Wissenschaftliche Publikationen
Originalarbeiten in wissenschaftlichen
Fachzeitschriften:
- *Schermer B., *Hopker K., *Omran H., Ghenoiu C., Fliegauf M., Fekete A., Horvath J., Kottgen M., Hackl M., Zschiedrich S., Huber T.B., Kramer-Zucker A., Zentgraf H., Blaukat A., Walz G., Benzing T.: Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and tar-geting to cilia. (*geteilte Erstautorenschaft) Embo J, 2005; 24: 4415-4424.
- Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Beverloo HB, Driessen GJ, Dworzak M, Fischer A, Zecca M, Zwaan CM, van Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH, Langerak AW: T-cell receptor Vβ skewing frequently occurs in refractory cytopenia of childhood and is associated with an expansion of effector cytotoxic T-cells: a prospective study by EWOG-MDS Blood Cancer J, 2014; 4 (online): e209. : http://dx.doi.org/10.1038/bcj.2014.28
- Aalbers AM, van den Heuvel-Eibrink MM, Baumann I, Dworzak M, Hasle H, Locatelli F, Moerloose BD, Schmugge M, Mejstrikova E, Nováková M, Zecca M, Zwaan CM, Te Marvelde JG, Langerak AW, Dongen JJ, Pieters R, Niemeyer CM, van der Velden VH: Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood. Haematologica, 2015; 100 (3): 315-323. : http://doi:10.3324/haematol.2014.107706
- Aalbers AM, van den Heuvel-Eibrink MM, de Haas V, Te Marvelde JG, de Jong AX, van der Burg M, Dworzak M, Hasle H, Locatelli F, De Moerloose B, Schmugge M, Stary J, Zecca M, Zwaan CM, van de Loosdrecht AA, van Dongen JJ, Niemeyer CM, van der Velden VH: Applicability of a reproducible flow cytometry scoring system in the diagnosis of refractory cytopenia of childhood. Leukemia, 2013; 27 (9): 1923-1925. : http://dx.doi.org/10.1038/leu.2013.81
- Aalbers AM, van der Velden VH, Yoshimi A, Fischer A, Noellke P, Zwaan CM, Baumann I, Beverloo HB, Dworzak M, Hasle H, Locatelli F, De Moerloose B, Gohring G, Schmugge M, Stary J, Zecca M, Langerak AW, van Dongen JJ, Pieters R, Niemeyer CM, van den Heuvel-Eibrink MM: The clinical relevance of minor paroxysmal nocturnal hemoglobinuria clones in refractory cytopenia of childhood: a prospective study by EWOG-MDS. Leukemia, 2014; 28: 189-192.
- Abd El-Moneim ES,, Fuerste HO,, Krueger M,, Elmagd AA,, Brandis M,, Schulte-Moenting J,, Hentschel R.: Pressure support ventilation combined with volume guarantee versus synchronized intermittent mandatory ventilation: a pilot crossover trial in premature infants in their weaning phase. Pediatric critical care medicine, 2005; 6 (3): 286-292.
- Abdulhay NJ, Fiorini C, Verboon JM, Ludwig LS, Ulirsch JC, Zieger B, Lareau CA, Mi X, Roy A, Obeng EA, Erlacher M, Gupta N, Gabriel SB, Ebert BL, Niemeyer CM, Khoriaty RN, Ancliff P, Gazda HT, Wlodarski MW, Sankaran VG: Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation. J Exp Med, 2019; 216 (5): 1050-1060. : http://dx.doi.org/10.1084/jem.20181625
- Abecasis GR, Noguchi E, Heinzmann A, Traherne JA, Bhattacharyya S, Leaves NI, Anderson GG, Zhang Y, Lench NJ, Carey A, Cardon LR, Moffatt MF, Cookson WO: Extent and distribution of linkage disequilibrum in three genomic regions. Am J Hum Genet, 2001; 68 (1): 191-197.
- Abraham J, Nunez-Alvarez Y, Hettmer S, Carrio E, Chen HI, Nishijo K, Huang ET, Prajapati SI, Walker RL, Davis S, Rebeles J, Wiebush H, McCleish AT, Hampton ST, Bjornson CR, Brack AS, Wagers AJ, Rando TA, Capecchi MR, Marini FC, Ehler BR, Zarzabal LA, Goros MW, Michalek JE, Meltzer PS, Langenau DM, LeGallo RD, Mansoor A, Chen Y, Suelves M, Rubin BP, Keller C: Lineage of origin in rhabdomyosarcoma informs pharmacological response. Gene Dev, 2014; 28 (14): 1578-1591. : http://dx.doi.org/10.1101/gad.238733.114
- Adam S, Akroyd R, Bernabei S, Bollhalder S, Boocock S, Burlina A, Coote T, Corthouts K, Dalmau J, Dawson S, Defourny S, De Meyer A, Desloovere A, Devlin Y, Diels M, Dokoupil K, Donald S, Evans S, Fasan I, Ferguson C, Ford S, Forga M, Gallo G, Grünert SC, Heddrich-Ellerbrok M, Heidenborg C, Jonkers C, Lefebure K, Luyten K, MacDonald A, Meyer U, Micciche A, Muller E, Portnoi P, Ripley S, Robert M, Robertson LV, Rosenbaum-Fabian S, Sahm K, Schultz S, Singleton K, Sjoqvist E, Stoelen L, Terry A, Thompson S, Timmer C, Vande Kerckhove K, van der Ploeg L, Van Driessche M, van Rijn M, van Teeffelen-Heithoff A, Vitoria I, Voillot C, Wenz J, Westbrook M, Wildgoose J, Zweers H: How strict is galactose restriction in adults with galactosaemia? International practice. Mol Genet Metab, 2015; 115 (1): 23-26. : http://dx.doi.org/10.1016/j.ymgme.2015.03.008
- Adatia I, Gittenberger de Groot AC: Unroofed coronary sinus and coronary sinus orifice atresia - implications for management of complex congenital heart disease. J. Am. Coll. Cardiol, 1995; 84: 55-63.
- Adrian JE, Wolf A, Steinbach A, Rößler J, Süss R: Targeted delivery to neuroblastoma of novel siRNA-anti-GD2-liposomes prepared by dual asymmetric centrifugation and sterol-based post-insertion method. Pharm Res-dordr, 2011; 28 (9): 2261-2272. : http://dx.doi.org/10.1007/s11095-011-0457-y
- Afable MG, Wlodarski M, Makishima H, Shaik M, Sekeres MA, Tiu RV, kalaycio M, O'Keefe CL, Maciejewski JP: SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood, 2011; 117 (25): 6876-6884. : http://dx.doi.org/10.1182/blood-2010-11-314393
- Afreen S, Weiss JM, Strahm B, Erlacher M: Concise Review: Cheating Death for a Better Transplant. Stem Cells, 2018; 36 (11): 1646-1654. : http://dx.doi.org/10.1002/stem.2901
- Afshar B,, Broughton K, Creti R, Detcheva A, Hufnagel M, Kriz P, Lambertsen L, Lovgren M, Melin P, Orefici G, Poyart C, Radtke A, Rodriguez-Granger J, Skov Sørensen UB, Telford J, Valinsky L, Zachariadou L, Members of the DEVANI study group, Efstratiou A: International External Quality Assurance for Laboratory Diagnosis and Typing of Streptococcus agalactiae (group B streptococci) J Clin Microbiol, 2011; 49: 1475-1482.
- Agyeman P, Aebi C, Hirt A, Niggli FK, Nadal D, Simon A, Ozsahin H, Kontny U, Kuhne T, Beck Popovic M, Leibundgut K, Bodmer N, Ammann RA: Predicting bacteremia in children with cancer and fever in chemotherapy-induced neutropenia: results of the prospective multicenter SPOG 2003 FN study. Pediatr Infect Dis J, 2011; 30 (7): e114-e119. : http://dx.doi.org/10.1097/INF.0b013e318215a290
- Ahne T, Ahne S, Berner R, Krüger M: Schwere Sepsis im Kindesalter am Beispiel des Waterhouse-Friderichsen-Syndroms
Severe sepsis in childhood exemplified by Waterhouse-Friderichsen syndrome
Gibt es präklinische Therapieoptionen? Are there preclinical therapeutic options? Notfall Rettungsmed, 2010; 13: 251-258. : http://dx.doi.org/10.1007/s10049-010-1316-9
- Alanay Y, Superti-Furga A, Karel F, Tuncbilek E: Spondylo-ocular syndrome: a new entity involving the eye and spine. Am J Med Genet A, 2006; 140 (6): 652-656.
- Albert K, Jakob A, Rompel R: [Multimodal ablative therapy of florid oral papillomatosis]. J Dtsch Dermatol Ges, 2008; 6 (6): 505-506. : http://dx.doi.org/10.1111/j.1610-0387.2008.06759.x
- Albinski M, Hufnagel M, Schelling J, Fleck T, Siepe M, Zieger B, Stiller B: Cardiac thrombus with risk of fulminant pulmonary embolism in paediatric antiphospholipid syndrome. Klin Padiatr, 2016; 228 (4): 219-222. : http://dx.doi.org/10.1055/s-0042-104121
- Albinski M, Hufnagel M, Schelling J, Fleck T, Siepe M, Zieger B, Stiller B: Cardiac thrombus with risk of fulminant pulmonary embolism in paediatric antiphospholipid syndrome. Klin Padiatr, 2016; 228 (4): 219-222. : http://dx.doi.org/10.1055/s-0042-104121
- Albinski M, Hufnagel M, Schelling J, Fleck T, Siepe M, Zieger B, Stiller B: Cardiac thrombus with risk of fulminant pulmonary embolism in paediatric antiphospholipid syndrome. Klin Padiatr, 2016; 228 (4): 219-222. : http://dx.doi.org/10.1055/s-0042-104121
- Ali M, Highet LJ, Lacombe D, Goizet C, King MD, Tacke U, van der Knaap MS, Lagae L, Rittey C, Brunner HG, von Bokhoven H, Hamel B, Oade YA, Sanchis A, Desguerre I, Cau D, Mathieu N, Moutard ML, Lebon P, Kumar D, Jackson AP, Crow YJ: A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21 PubMed (elektronisch abrufbar), 2005 (online).
- Ali M et al, Tacke U: A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21 J Med Genet, 2006; 43 (5): 444-450.
- Almaazmi M, Schmid MB, Havers S, Reister F, Lindner W, Mayer B, Hummler HD, Fuchs H: Cerebral near-infrared spectroscopy during transition of healthy term newborns. Neonatology, 2013; 103 (4): 246-251. : http://dx.doi.org/10.1159/000345926
- Alrohaif H, Pogoryelova O, Al-Ajmi A, Aljeryan LA, Alrashidi NH, Alefasi SA, Urtizberea A, Lochmuller H, Bastaki L: GNE myopathy in the bedouin population of Kuwait: Genetics, prevalence, and clinical description. Muscle Nerve, 2018; 58 (5): 700-707. : http://dx.doi.org/10.1002/mus.26337
- Alrohaif H, Topf A, Evangelista T, Lek M, McArthur D, Lochmuller H: Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. Neurol Genet, 2018; 4 (2): e226-e226. : http://dx.doi.org/10.1212/NXG.0000000000000226
- Al Seraihi AF, Rio-Machin A, Tawana K, Bodor C, Wang J, Nagano A, Heward JA, Iqbal S, Best S, Lea N, McLornan D, Kozyra EJ, Wlodarski MW, Niemeyer CM, Scott H, Hahn C, Ellison A, Tummala H, Cardoso SR, Vulliamy T, Dokal I, Butler T, Smith M, Cavenagh J, Fitzgibbon J: GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML. Leukemia, 2018; 32: 2502-2507. : http://dx.doi.org/10.1038/s41375-018-0134-9
- Althaus K, Zieger B, Bakchoul T, Jurk K: Standardization of Light Transmission Aggregometry for Diagnosis of Platelet Disorders: An Inter-Laboratory External Quality Assessment. Thromb Haemostasis, 2019; 119 (7): 1154-1161. : http://dx.doi.org/10.1055/s-0039-1688791
- Althaus-Salzmann M, Carafoli E, Jakob A: Ca2+, K+ redistributions and alpha-adrenergic activation of glycogenolysis in perfused rat livers. Eur J Biochem, 1980; 106 (1): 241-248.
- Ammann RA, Bodmer N, Hirt A, Niggli FK, Nadal D, Simon A, Ozsahin H, Kontny U, Kühne T, Popovic MB, Lüthy AR, Aebi C: Predicting adverse events in children with fever and chemotherapy-induced neutropenia: the prospective multicenter SPOG 2033 FN study. J Clin Oncol, 2010; 28 (12): 2008-2014.
- Ammann S, Lehmberg K, Zur Stadt U, Janka G, Rensing-Ehl A, Klemann C, Heeg M, Bode S, Fuchs I, Ehl S: Primary and secondary hemophagocytic lymphohistiocytosis have different patterns Eur J Immunol, 2017; 47 (2): 364-373. : http://dx.doi.org/10.1002/eji.201646686
- Ammann S, Lehmberg K, Zur Stadt U, Klemann C, Bode SFN, Speckmann C, Janka G, Wustrau K, Rakhmanov M, Fuchs I, Hennies HC, Ehl S: Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis. J Clin Immunol, 2017; 37 (8): 770-780. : http://dx.doi.org/10.1007/s10875-017-0443-1
- Anastasopoulos C, Reisert M, Kiselev VG, Nguyen-Thanh T, Schulze-Bonhage A, Zentner J, Mader I: Local and global fiber tractography in patients with epilepsy Am J Neuroradiol, 2014; 35 (2): 291-296. : http://dx.doi.org/10.3174/ajnr.A3752
- Andrade-Valenca L, Mari F, Jacobs J, Zijlmans M, Olivier A, Gotman J, Dubeau F: Interictal high frequency oscillations (HFOs) in patients with focal epilepsy and normal MRI. Clin Neurophysiol, 2012; 123 (1): 100-105. : http://dx.doi.org/10.1016/j.clinph.2011.06.004
- Andreiuolo F, Varlet P, Tauziede-Espariat A, Junger ST, Dorner E, Dreschmann V, Kuchelmeister K, Waha A, Haberler C, Slavc I, Corbacioglu S, Riemenschneider MJ, Leipold A, Rudiger T, Korholz D, Acker T, Russo A, Faber J, Sommer C, Armbrust S, Rose M, Erdlenbruch B, Hans VH, Bernbeck B, Schneider D, Lorenzen J, Ebinger M, Handgretinger R, Neumann M, van Buiren M, Prinz M, Roganovic J, Jakovcevic A, Park SH, Grill J, Puget S, Messing-Junger M, Reinhard H, Bergmann M, Hattingen E, Pietsch T: Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathol, 2018. : http://dx.doi.org/10.1111/bpa.12659 (in Druck)
- Andreiuolo F, Varlet P, Tauziede-Espariat A, Junger ST, Dorner E, Dreschmann V, Kuchelmeister K, Waha A, Haberler C, Slavc I, Corbacioglu S, Riemenschneider MJ, Leipold A, Rudiger T, Korholz D, Acker T, Russo A, Faber J, Sommer C, Armbrust S, Rose M, Erdlenbruch B, Hans VH, Bernbeck B, Schneider D, Lorenzen J, Ebinger M, Handgretinger R, Neumann M, van Buiren M, Prinz M, Roganovic J, Jakovcevic A, Park SH, Grill J, Puget S, Messing-Junger M, Reinhard H, Bergmann M, Hattingen E, Pietsch T: Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathol, 2019; 29 (2): 205-216. : http://dx.doi.org/10.1111/bpa.12659
- André N, Verschuur A, Rössler J, Sterba J: Anti-Angiogenic therapies for children with cancer. Curr Cancer Drug Tar, 2010; 10 (8): 879-989.
- Andre-Schmutz I, Dal-Cortivo L, Six E, Kaltenbach S, Cocchiarella F, Le Chenadec J, Cagnard N, Cordier AG, Benachi A, Mandelbrot L, Azria E, Bouallag N, Luce S, Ternaux B, Reimann C, Revy P, Radford-Weiss I, Leschi C, Recchia A, Mavilio F, Cavazzana M, Blanche S: Genotoxic signature in cord blood cells of newborns exposed in utero to a Zidovudine-based antiretroviral combination. J Infect Dis, 2013; 208 (2): 235-243. : http://dx.doi.org/10.1093/infdis/jit149
- Antes G, Bassler D, Forster J, Ollenschläger G: Die methodische Qualität von Leitlinien - dargestellt am Beispiel Asthma bronchiale Z ärztl Fortbild Qual sich, 1998; 92: 295-297.
- Antiel RM, Caudill JS, Burkhardt BE, Brands CK, Fischer PR: Iron insufficiency and hypovitaminosis D in adolescents with chronic fatigue and orthostatic intolerance. South Med J, 2011; 104 (8): 609-611. : http://dx.doi.org/10.1097/SMJ.0b013e3182246809
- Antunes AT, Goos YJ, Pereboom TC, Hermkens D, Wlodarski MW, Da Costa L, MacInnes AW: Ribosomal Protein Mutations Result in Constitutive p53 Protein Degradation through Impairment of the AKT Pathway. Plos Genet, 2015; 11 (7): e1005326. : http://dx.doi.org/10.1371/journal.pgen.1005326
- APPLETON R, FICHTNER K, LAMOREAUX L, ALEXANDER J, HALSALL G, MURRAY G, GAROFALO E, GABAPENTIN STUDY GROUP: Gabapentin as Add-on therapy in children with refractory partial seizures: A 12-week, multicentre, double-blind, placebo-controlled study Epilepsia,, 1999; 40: 1147-1154.
- Arbeitsgruppe MRGN der Deutschen Gesellschaft für Pädiatrische Infektiologie, des Paed IC Projektes, Dr. Markus Hufnagel ist aktives Mitglied des Paed IC-Projekts: Infektionspräventives Vorgehen bei Nachweis von MRGN im Kindesalter. Hygiene + Medizin, 2014; 39: 344-357.
- Arbeitsgruppe MRSA der Deutschen Gesellschaft für Pädiatrische Infektiologie, des Paed IC Projektes, Dr. Markus Hufnagel ist aktives Mitglied des Paed IC-Projekts: Umgang mit MRSA-Nachweisen bei ansonsten gesunden Kindern ohne Infektionszeichen. Hygiene + Medizin, 2014; 39: 344-357.
- Archambeault S, Flores NJ, Yoshimi A, Kratz CP, Reising M, Fischer A, Noellke P, Locatelli F, Sedlacek P, Flotho C, Zecca M, Emanuel PD, Castleberry RP, Niemeyer CM, Bader P, Loh ML: Development of an allele-specific minimal residual disease assay for patients with juvenile myelomonocytic leukemia. Blood, 2008; 111 (3): 1124-1127. : http://dx.doi.org/10.1182/blood-2007-06-093302
- Archer NM, Amorim RP, Naves R, Hettmer S, Diller LR, Ribeiro KB, Rodriguez-Galindo C: An Increased Risk of Second Malignant Neoplasms After Rhabdomyosarcoma: Population-Based Evidence for a Cancer Predisposition Syndrome? Pediatr Blood Cancer, 2016; 63 (2): 196-201. : http://dx.doi.org/10.1002/pbc.25678
- Ardelt PU *, Cederqvist M *, Barth M, Frankenschmidt A: The SIGHT questionnaire: A novel assessment tool for Satisfaction In Genital Hypospadias Treatment. J Pediatr Urol, 2017; 13 (1): 33.e1-33.e8. : http://dx.doi.org/10.1016/j.jpurol.2016.10.011
- ARENAS N, JAKOB A, GORI RM: [The value of colposcopy in the fight against cervical cancer]. An Bras Ginecol, 1949; 27 (3): 209-214.
- Arnold R, Gorenflo M, Bottler P, Eichhorn J, Jung C, Goebel B: Tissue Doppler derived isovolumic acceleration in patients after atrial repair for dextrotransposition of the great arteries. Echocardiogr-j Card, 2008; 25 (7): 732-738. : http://dx.doi.org/10.1111/j.1540-8175.2008.00686.x
- Arnold R, Ley S, Ley-Zaporozhan J, Eichhorn J, Schenk JP, Ulmer H, Kauczor HU: Visualization of coronary arteries in patients after childhood Kawasaki syndrome: value of multidetector CT and MR imaging in comparison to conventional coronary catheterization. Pediatr Radiol, 2007; 37 (10): 998-1006.
- Arnold R, Ley-Zaporozhan J, Ley S, Loukanov T, Sebening C, Kleber JB, Goebel B, Hagl S, Karck M, Gorenflo M: Outcome after mechanical aortic valve replacement in children and young adults. Ann Thorac Surg, 2008; 85 (2): 604-610. : http://dx.doi.org/10.1016/j.athoracsur.2007.10.035
- Arnold R, Neu M, Hirtler D, Gimpel C, Markl M, Geiger J: Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome. Pediatr Radiol, 2017; 47 (4): 382-390. : http://dx.doi.org/10.1007/s00247-016-3767-8
- Arnold R, Neu M, Hirtler D, Gimpel C, Markl M, Geiger J: Magnetic resonance imaging 4-D flow-based analysis of aortic hemodynamics in Turner syndrome. Pediatr Radiol, 2017; 47 (4): 382-390. : http://dx.doi.org/10.1007/s00247-016-3767-8
- Arnold R, Schwendinger D, Jung S, Pohl M, Jung B, Geiger J, Gimpel C: Left ventricular mass and systolic function in children with chronic kidney disease-comparing echocardiography with cardiac magnetic resonance imaging. Pediatr Nephrol, 2016; 31 (2): 255-265. : http://dx.doi.org/10.1007/s00467-015-3198-z
- Arnold R, Goebel B, Ulmer HE, Gorenflo M, Poerner TC: An exercise tissue Doppler and strain rate imaging study of diastolic myocardial dysfunction after Kawasaki syndrome in childhood. Cardiol Young, 2007; 19 (jul): 1-9.
- Arri SJ, Fluegge K, Mueller U, Berner R: Antibiotic resistance patterns among respiratory tract pathogens at a German university childrens hospital over a period of 10 years Eur J Pediatr, 2005 (online).
- Arshad SH, Bojarskas J, Tsitoura S, Matthews S, Mealy B, Dean T, Karmaus W, Frischer T, Kuehr, J, Forster J: The SPACE study group. Prevention of sensitization to house dust mite by allergen avoidance in school age children: a randomized controlled study. Clin Exp Allergy, 2002; 32: 843-849.
- Arshad SH, Karmaus W, Matthews S, Mealy B, Dean T, Frischer T, Tsitoura S, Bojarskas J, Kuehr J, Forster J.: Association of allergy-related symptoms with sensitisation to common allergens in an adult European population. J Invest Allerg Clin, 2001; 11: 94-102.
- Arun T, Verma SK, Panda PK, Joseyphus RJ, Jha E, Akbari-Fakhrabadi A, Sengupta P, Ray DK, Benitha VS, Jeyasubramanyan K, Satyam PV: Facile synthesized novel hybrid graphene oxide/cobalt ferrite magnetic nanoparticles based surface coating material inhibit bacterial secretion pathway for antibacterial effect. Mat Sci Eng C-bio S, 2019; 104: 109932-109932. : http://dx.doi.org/10.1016/j.msec.2019.109932
- Aschka I, Aumann V, Bergmann F, Budde U, Eberl W, Eckhof-Donovan S, Krey S, Nowak-Göttl U, Schobeß R, Sutor AH, Wendisch J, Schneppenheim R: Prevalence of factor V Leiden in children with thromoboembolism. Eur. J. Pediatr., 1996; 155: 1009-1014.
- Aschka I, Krey S, Barthels M, Bergmann F, Budde U, Eberl W, Eckhof-Donovan S, Eisert R, Kreuz W, Nowak-Göttl, U, Plendl H, Schobeß R, Sutor A, Schwabe R, Schnep-penheim, R: APC-Resistenz im Kindesalter. Mschr Kinderheilk, 1995; 143: 159.
- Aspesi A, Betti M, Sculco M, Actis C, Olgasi C, Wlodarski MW, Vlachos A, Lipton JM, Ramenghi U, Santoro C, Follenzi A, Ellis SR, Dianzani I: A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia. Hum Mutat, 2018; 39 (8): 1102-1111. : http://dx.doi.org/10.1002/humu.23551
- Aspesi A, Monteleone V, Betti M, Actis C, Morleo G, Sculco M, Guarrera S, Wlodarski MW, Ramenghi U, Santoro C, Ellis SR, Loreni F, Follenzi A, Dianzani I: Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy. Sci Rep-uk, 2017; 7 (1): 12010-12010. : http://dx.doi.org/10.1038/s41598-017-12307-5
- Avila NA, Mueller BU, Carrasquillo JA, Kontny HU, Jaffe ES, Pizzo PA: Multilocular thymic cysts: imaging features in children with human immunodeficiency virus infection. Radiology, 1996; 201 (1): 130-134.
- Azukaitis K, Ju W, Kirchner M, Nair V, Smith M, Fang Z, Thurn-Valsassina D, Bayazit A, Niemirska A, Canpolat N, Bulut IK, Yalcinkaya F, Paripovic D, Harambat J, Cakar N, Alpay H, Lugani F, Mencarelli F, Civilibal M, Erdogan H, Gellermann J, Vidal E, Tabel Y, Gimpel C, Ertan P, Yavascan O, Melk A, Querfeld U, Wühl E, Kretzler M, Schaefer F: Low levels of urinary epidermal growth factor predict chronic kidney disease progression in children. Kidney Int, 2019; 96 (1): 214-221. : http://dx.doi.org/10.1016/j.kint.2019.01.035
- Baars JC, G Ihorst, J Forster, T. Frischer, W karmaus, M Henschen, J Kuehr: Lungenfunktionsreferenzwerte im Schulalter pneumologie, 2000. (in Druck)
- Baars JC, Ihorst G, Forster J, Frischer T, Karmaus W, Henschen M, Kuhr J: Lungenfunktionsreferenzwerte im Schulalter. Pneumologie, 2001; 55: 72-78.
- Baasov T, Sheffer-Dee-Noor S, Kohen A, Jakob A, Belakhov V: Catalytic mechanism of 3-deoxy-D-manno-2-octulosonate-8-phosphate synthase. The use of synthetic analogues to probe the structure of the putative reaction intermediate. Eur J Biochem, 1993; 217 (3): 991-999.
- Babel N, Brestrich G, Gondek LP, Sattler A, Wlodarski MW, Poliak N, Bethke N, Thiel A, Hammer MH, Reinke P, Maciejewski JP: Clonotype Analysis of Cytomegalovirus-Specific Cytotoxic T Lymphocytes. J Am Soc Nephrol, 2009; 20 (2): 344-352.
- Babor F, Peters C, Manser AR, Glogova E, Sauer M, Potschger U, Ahlmann M, Cario G, Feuchtinger T, Gruhn B, Gungor T, Horn PA, Kremens B, Lang P, Mezger M, Muller I, Mytilineos J, Oevermann L, Pichler H, Scherenschlich N, Schuster FR, Siepermann M, Stachel D, Strahm B, Wossmann W, Escherich G, Zimmermann M, Schrappe M, Borkhardt A, Eckert C, Bader P, Uhrberg M, Meisel R: Presence of centromeric but absence of telomeric group B KIR haplotypes in stem cell donors improve leukaemia control after HSCT for childhood ALL. Bone Marrow Transpl, 2019. : http://dx.doi.org/10.1038/s41409-019-0543-z (in Druck)
- Bächle B, Brüstle S, Kruse S: Mehr als die übliche Müdigkeit? Die Schwester Der Pfleger, 2005; 44: 98-102.
- Back E, Toder R, Fuchshuber A: De novo inverted duplication of chromosome 7(q21.3®q35): cytogenetic diagnosis confirmed by FISH analysis. Clin Genet, 2001; 60: 77-82.
- Bader P, Beck J, Frey A, Schlegel PG, Hebarth H, Handgetinger R, Einsele H, Niemeyer C, Benda N, Faul C, Kanz L, Niethammer D, Klingebiel T: Serial and quantitative analysis of mixed hematopoietic chimerism by PCR in patients with acute leukemias allows the prediction of relapse after allogeneic BMT Bone Marrow Transplantation, 1998; 21: 487-495.
- Bader P, Kreyenberg H, Hoelle W, Dueckers G, Handgretinger R, Lang P, Kremens B, Dilloo D, Sykora KW, Schrappe M, Niemeyer C, Von Stackelberg A, Gruhn B, Henze G, Greil J, Niethammer D, Dietz K, Beck JF, Klingebiel T: Increasing mixed chimerism is an important prognostic factor for unfavorable outcome in children with acute lymphoblastic leukemia after allogeneic stem-cell transplantation: possible role for pre-emptive immunotherapy? J Clin Oncol, 2004; 22 (9): 1696-1705.
- Bader P, Kreyenberg H, Hoelle W, Dueckers G, Kremens B, Dilloo D, Sykora KW, Niemeyer C, Reinhardt D, Vormoor J, Gruhn B, Lang P, Greil J, Handgretinger R, Niethammer D, Klingebiel T, Beck JF: Increasing mixed chimerism defines a high-risk group of childhood acute myelogenous leukemia patients after allogeneic stem cell transplantation where pre-emptive immunotherapy may be effective. Bone Marrow Transpl, 2004; 33 (8): 815-821.
- Bader P, Niemeyer C, Weber G, Coliva T, Rossi V, Kreyenberg H, Gerecke A, Biondi A: WT1 gene expression: useful marker for minimal residual disease in childhood myelodysplastic syndromes and juvenile myelo-monocytic leukemia? Eur J Haematol, 2004; 73 (1): 25-28.
- Bader P, Niemeyer C, Weber G, Coliva T, Rossi V, Kreyenberg H, Gerecke A, Biondi A: WT1 gene expression: useful marker for minimal residual disease in childhood myelodysplastic syndromes and juvenile myelo-monocytic leukemia? European Journal of Haematology, 2004; 73: 25-28.
- Bader P, Niemeyer C, Willasch A, Kreyenberg H, Strahm B, Kremens B, Gruhn B, Dilloo D, Vormoor J, Lang P, Niethammer D, Klingebiel T, Beck J: Children with myelodysplastic syndrome (MDS)and increasing mixed chimerism after allogeneic stem cell transplantation have a poor outcome which can be improved by pre-emptive immunotherapy Brit J Haematol, 2005; 128: 649-658.
- Bader P, Stoll K, Huber S, Geiselhart A, Handgretinger R, Niemeyer C, Einsele H, Schegel PG, Niethammer D, Beck J, Klingebiel T:: Characterization of lineage-specific chimaerism in patients with acute leukaemia and myelodysplastic syndrome after allogeneic stem cell transplantation before and after relapse. Brit J Haematol, 2000; 108 (4): 761-768.
- Badiani A, Jakob A, Rodaros D, Stewart J: Sensitization of stress-induced feeding in rats repeatedly exposed to brief restraint: the role of corticosterone. Brain Res, 1996; 710 (1-2): 35-44.
- Baehr A, Gerecke A, Liese C, Berner R: Neuroborreliosis manifested as persistent vomiting in three children. Scand J Infect Dis, 2008; 40 (6-7): 587-588. : http://dx.doi.org/10.1080/00365540801894761
- Baehr A, Gerecke A, Liese C, Berner R: Neuroborreliosis manifested as persistent vomiting in three children. Scand J Infect Dis, 2008; 40 (6-7): 587-588.
- Baghai M, Heilmann C, Beyersdorf F, Nakamura L, Geisen U, Olschewski M, Zieger B: Platelet dysfunction and acquired von Willebrand syndrome in patients with left ventricular assist devices. Eur J Cardio-thorac, 2015; 48 (3): 421-427. : http://dx.doi.org/10.1093/ejcts/ezu510
- Baghai M, Tamura N, Beyersdorf F, Henze M, Prucker O, Rühe J, Goto S, Zieger B, Heilmann C: Platelet repellent properties of hydrogel coatings on polyurethane-coated glass surfaces. Asaio J, 2014; 60 (5): 587-593. : http://dx.doi.org/10.1097/MAT.0000000000000118
- Bähr A, Schulte-Vallentin M, Hasse J, Werner M, Jüttner E, Uhl M, Niemeyer CM, Kontny: Extrathoracal pulmonary sequestration in the differential diagnosis of paravertebral tumors in the neonate Klin Padiatr, 2006; 218 (1): 13-15.
- Bähr AS, Rößler J: Update: Die Behandlung infantiler Hämangiome. ÄP Pädiatrie, 2010; 6: 25-29.
- Bailey DGN, Fuchs H, Hentschel R: Carboxyhemoglobin - the forgotten parameter of neonatal hyperbilirubinemia. J Perinat Med, 2017; 45 (5): 613-617. : http://dx.doi.org/10.1515/jpm-2016-0053
- Balcarek K, Venhoff N, Deveaud C, Beauvoit B, Bonnet J, Kirschner J, Venhoff AC, Lebrecht D, Walker UA: Role of Pyrimidine Depletion in the Mitochondrial Cardiotoxicity of Nucleoside Analogue Reverse Transcriptase Inhibitors.
Jaids-j Acq Imm Def, 2010; 55 (5): 550-557. : http://dx.doi.org/10.1097/QAI.0b013e3181f25946
- Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A: Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur J Pediatr, 2005; 164 (8): 509-514.
- Balshem H, Helfand M, Schünemann HJ, Oxman AD, Kunz R, Brozek J, Vist GE, Falck-Ytter Y, Meerpohl J, Norris S, Guyatt GH: GRADE guidelines: 3. Rating the quality of evidence. J Clin Epidemiol, 2011; 64: 401-406. : http://dx.doi.org/10.1016/j.jclinepi.2010.07.015
- BALZ G, JAKOB A: [Physical conditions of grid radiotherapy in the framework of conventional depth radiotherapy]. Strahlentherapie, 1958; 107 (2): 271-277.
- BALZ G, JAKOB A: [Observations on radiation protection in contact with radium and similar gamma activities]. Strahlentherapie, 1960; 111: 286-296.
- Bandi SR, Brandts C, Rensinghoff M, Grundler R, Tickenbrock L, Kohler G, Duyster J, Berdel WE, Muller-Tidow C, Serve H, Sargin B: E3 ligase-defective Cbl mutants lead to a generalized mastocytosis and myeloproliferative disease. Blood, 2009; 114 (19): 4197-4208. : http://dx.doi.org/10.1182/blood-2008-12-190934
- Banerjea MC, Diener W, Kutschke G, Schneble HJ, Korinthenberg R, Sutor AH: Pro- and Anticoagulatory Factors under Sodium Valproate-Therapy in Children Neuropediatrics, 2002; 33: 215-220.
- Banerjea MC, Diener W, Kutschke G, Schneble HJ, Korinthenberg R, Sutor AH: Pro- and anticoagulatory factors under sodium valproate-therapy in children. Neuropediatrics, 2002; 33 (4): 215-220.
- Bannasch H, Kontny U, Kruger M, Stark GB, Niemeyer CM, Brandis M, Horch RE: A semisynthetic bilaminar skin substitute used to treat pediatric full-body toxic epidermal necrolysis: wraparound technique in a 17-month-old girl. Arch Dermatol, 2004; 140 (2): 160-162. : http://dx.doi.org/10.1001/archderm.140.2.160
- Bannasch H, Kontny U, Krüger M, Stark GB, Niemeyer CM, Brandis M, Horch RE: A semisynthetic bilaminar skin substitute used to treat pediatric full-body toxic epidermal necrolysis: wraparound technique in a 17-month-old girl. Arch Dermatol, 2004; 140 (2): 160-162.
- Bansagi B, Phan V, Baker MR, O'Sullivan J, Jennings MJ, Whittaker RG, Muller JS, Duff J, Griffin H, Miller JAL, Gorman GS, Lochmuller H, Chinnery PF, Roos A, Swan LE, Horvath R: Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation. Neurology, 2018; 90 (21): e1842-e1848. : http://dx.doi.org/10.1212/WNL.0000000000005566
- Barchet W, Oehen S, Klenerman P, Wodarz D, Bocharov G, Lloyd AL, Nowak MA, Hengartner H, Zinkernagel RM, Ehl S.: Direct quantitation of rapid elimination of viral antigen-positive lymphocytes by antiviral CD8(+)T cells in vivo. Eur J Immunol, 2000; 30 (5): 1356-1363.
- Barchet W, Oehen S, Klenerman P, Wodarz D, Bocharov G, Lloyd AL, Nowak MA, Hengartner H, Zinkernagel RM, Ehl S: Direct quantitation of rapid elimination of viral antigen-positive lymphocytes by antiviral CD8(+) T cells in vivo. Eur J Immunol, 2000; 30 (5): 1356-1363.
- Baric I, Erdol S, Saglam H, Lovric M, Beluzic R, Vugrek O, Blom HJ, Fumic K: Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders? JIMD Rep, 2016. : http://dx.doi.org/10.1007/8904_2016_543 (in Druck)
- Barisoni L, Gimpel C, Kain R, Laurinavicius A, Bueno G, Zeng C, Liu Z, Schaefer F, Kretzler M, Holzman LB, Hewitt SM: Digital pathology imaging as a novel platform for standardization and globalization of quantitative nephropathology. Clin Kidney J, 2017; 10 (2): 176-187. : http://dx.doi.org/10.1093/ckj/sfw129
- Baris S, Schulze I, Ozen A, Aydiner EK, Altuncu E, Karasu GT, Ozturk N, Lorenz M, Schwarz K, Vraetz T, Ehl S, Barlan IB: Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation. J Clin Immunol, 2014; 34 (6): 601-606. : http://dx.doi.org/10.1007/s10875-014-0059-7
- Barroso M, Florindo C, Kalwa H, Silva Z, Turanov AA, Carlson BA, de Almeida IT, Blom HJ, Gladyshev VN, Hatfield DL, Michel T, Castro R, Loscalzo J, Handy DE: Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression. J Biol Chem, 2014; 289 (22): 15350-15362. : http://dx.doi.org/10.1074/jbc.M114.549782
- Barroso M, Kao D, Blom HJ, Tavares de Almeida I, Castro R, Loscalzo J, Handy DE: S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation. Bba-mol Basis Dis, 2016; 1862 (1): 82-92. : http://dx.doi.org/10.1016/j.bbadis.2015.10.019
- Barth H, Ulsenheimer A, Pape GR, Diepolder HM, Hoffmann M, Neumann-Haefelin C, Thimme R, Henneke P, Klein R, Paranhos-Baccala G, Depla E, Liang TJ, Blum HE, Baumert TF: Uptake and presentation of hepatitis C virus-like particles by human dendritic cells. Blood, 2005; 105 (9): 3605-3614.
- Barth H, Ulsenheimer A, Pape GR, Diepolder HM, Hoffmann M, Neumann-Haefelin C, Thimme R, Henneke P, Klein R, Paranhos-Baccala G, Depla E, Liang TJ, Blum HE, Baumert TF: Uptake and presentation of hepatitis C virus-like particles by human dendritic cells. Blood, 2005; 105 (9): 3605-3614. : http://dx.doi.org/10.1182/blood-2004-05-1952
- Barth M: Die rekursive Herstellung von Normalität als handlungsleitende Rahmung der Arzt-Eltern-Interaktion in den ersten pädiatrischen Früherkennungsuntersuchungen. Z Soziol Erzieh Sozi, 2015; 35 (1): 39-52.
- Barth M: [Pediatrician-parent interaction and early prevention : A review about the limits in addressing psychosocial risks during well-child visits]. Bundesgesundheitsbla, 2016; 59 (10): 1315-1322. : http://dx.doi.org/10.1007/s00103-016-2426-4
- Barth M: [Pediatrician-parent interaction and early prevention : A review about the limits in addressing psychosocial risks during well-child visits]. Bundesgesundheitsbla, 2016; 59 (10): 1315-1322. : http://dx.doi.org/10.1007/s00103-016-2426-4
- Barth M, Belzer F: [Case finding in early prevention networks - a heuristic for ambulatory care settings]. Bundesgesundheitsbla, 2016; 59 (6): 795-802. : http://dx.doi.org/10.1007/s00103-016-2348-1
- Bartsakoulia M, Pyle A, Troncoso-Chandia D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmuller H, Kleinle S, Chinnery PF, Grünert S, Kirschner J, Eisner V, Horvath R: A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Hum Mol Genet, 2018; 27 (7): 1186-1195. : http://dx.doi.org/10.1093/hmg/ddy033
- Bartsakoulia M, Pyle A, Troncoso-Chandia D, Vial-Brizzi J, Paz-Fiblas MV, Duff J, Griffin H, Boczonadi V, Lochmuller H, Kleinle S, Chinnery PF, Grunert S, Kirschner J, Eisner V, Horvath R: A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies. Hum Mol Genet, 2018; 27 (7): 1186-1195. : http://dx.doi.org/10.1093/hmg/ddy033
- Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, Greinacher A, Tacke U, Barth M, Busse A, Oldenburg J, Bommer M, Strahm B, Superti-Furga A, Zieger B: Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. Thromb Haemostasis, 2011; 106 (3): 475-483.
- Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, Greinacher A, Tacke U, Barth M, Busse A, Oldenburg J, Bommer M, Strahm B, Superti-Furga A, Zieger B: Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. Thromb Haemostasis, 2011; 106 (3): 475-483. : http://dx.doi.org/10.1160/TH11-05-0305
- Bartsch I, Sandrock K, Lanza F, Nurden P, Hainmann I, Pavlova A, Greinacher A, Tacke U, Barth M, Busse A, Oldenburg J, Bommer M, Strahm B, Superti-Furga A, Zieger B: Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. Thromb Haemostasis, 2011; 106 (3): 475-483.
- Bartsch I, Bläser S, Röseler S, Sandrock K, Busse A, Huber M, Rempp H, Lieber M, Horn J, Brendle C, Zieger B.: Human endothelial and platelet septin SEPT11: Cloning of novel variants and characterisation of interaction partners. Thromb Haemostasis, 2010; 104 (6): 1201-1210.
- Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kalwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R: Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study. J Allergy Clin Immun, 2018; 141 (3): 1036-1049.e5. : http://dx.doi.org/10.1016/j.jaci.2017.10.041
- Bassler D, Antes G, Forster J: Cochrane collaboration and Evidenz-basierte Medizin - Was hat der Kinderarzt davon? Der Kinderarzt, 1998; 29: 899-907.
- Bassler D, Antes G, Forster J: Leitlinien-Bericht Asthma bronchiale Teil 2: Strukturierte Leitlinien-Abstracts (Deutschland, Großbritannien) Z ärztl Fortbild Qual sich, 1999; 93: 213-218.
- Bassler D, Scholtyssek C, Forster J, Antes G: Verringerung der Fehlermöglichkeiten bei der Studienselektion für pädiatrische Übersichtsarbeiten und Meta-Analysen. Monatsschr Kinderh, 2001; 149: 1046-1049.
- Batz C, Hasle H, Bergstrasser E, van den Heuvel-Eibrink MM, Zecca M, Niemeyer CM, Flotho C: Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? Blood, 2010; 115 (12): 2557-2558. : http://dx.doi.org/10.1182/blood-2009-12-260901
- Batz C, Sandrock I, Niemeyer CM, Flotho C: Methylation of the PTEN gene CpG island is infrequent in juvenile myelomonocytic leukemia. Leukemia Res, 2009; 33: 1578-1579.
- Bauer CP, Genzel C, Bergmann R, Wahn V, Forster J, Zepp F, Wahn U, MAS-Gruppe: Einfluss der Ernährung im frühen Säuglingsalter auf die Manifestation einer atopischen Dermatitis und Sensibilisierung gegen Kuhmilchprotein Allergo J., 1998; 7: 264-270.
- Bauer J, Beedgen B, Böhler Th, Sontheimer D, Zilow EP, Linderkamp O: Bronchopulmonale Dysplasie : Retrospektive Analyse verschiedener Behandlungsformen und Entwurf eines therapeutischen Stufenplans Klinische Pädiatrie, 1996; 208: 56-60.
- Bauer J, Fischer Ch, Sontheimer D, Linderkamp O: Metabolic rate and energy balance in very low birthweight infants during kangaroo care by their mothers and fathers J. Pediatr., 1996; 129: 608-611.
- Bauer J, Hentschel R, Linderkamp O: Effect of sepsis syndrome on neonatal oxygen consumption and energy expenditure. Pediatrics, 2002; 110 (6): e69-e69.
- Bauer J, Hentschel R, Zahradnik H, Karck U, Linderkamp O: Vaginal delivery and neonatal outcome in extremely-low-birth-weight infants below 26 weeks of gestational age. Am J Perinat, 2003; 20: 181-188.
- Baumann I, Führer M, Behrendt S, Campr V, Csomor J, Furlan I, de Haas V, Kerndrup G, Leguit RJ, De Paepe P, Noellke P, Niemeyer CM, Schwarz S: Morphological differentiation of severe plastic anaemia from hypocellular refractory cytopenia of childhood: reproducibility of histopathological diagnostic criteria. Histopathology, 2012; 61 (1): 10-17. : http://dx.doi.org/10.1111/bjh.12083.
- Baumgartner D, Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D: Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr, 2007; 150 (2): 192- 197.
- Bausch B, Wellner U, Bausch D, Schiavi F, Barontini M, Sanso G, Walz MK, Peczkowska M, Weryha G, Dall'igna P, Cecchetto G, Bisogno G, Moeller L, Bockenhauer D, Patocs A, Racz K, Zabolotnyi D, Yaremchuk S, Dzivite-Krisane I, Castinetti F, Taieb D, Malinoc A, von Dobschuetz E, Roessler J, Schmid KW, Opocher G, Eng C, Neumann HP: Long term prognosis of patients with pediatric pheochromocytoma. Endocr-relat Cancer, 2014; 21: 17-25. : http://dx.doi.org/10.1530/ERC-13-0415
- Bayar A, Acun C, Dursun A, Verhoeven N, Bonafe L, Keser S, Superti-Furga A: Metaphyseal enchondrodysplasia with 2-hydroxy-glutaric aciduria: observation of a third case and further delineation. Clin Dysmorphol, 2005; 14 (1): 7-11.
- Beck BB, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper MJ, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob DE, Grohe B, Wolf MT, Nurnberg G, Yigit G, Salido EC, Hoppe B: Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies. Eur J Hum Genet, 2013; 21 (2): 162-172. : http://dx.doi.org/10.1038/ejhg.2012.139
- Becker H, Yoshida K, Blagitko-Dorfs N, Claus R, Pantic M, Abdelkarim M, Niemoller C, Greil C, Hackanson B, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Dohner K, Schnittger S, Henneke P, Niemeyer CM, Flotho C, Pfeifer D, Ogawa S, Lubbert M: Tracing the development of acute myeloid leukemia in CBL syndrome. Blood, 2014; 123 (12): 1883-1886. : http://dx.doi.org/10.1182/blood-2013-10-533844
- Becker H, Yoshida K, Blagitko-Dorfs N, Claus R, Pantic M, Abdelkarim M, Niemöller C, Greil C, Hackanson B, Shirashi Y, Chiba K, Tanaka H, Miyano S, Döhner K, Schnittger S, Henneke P, Niemeyer CM, Flotho C, Pfeifer D, Ogawa S, Lübbert M: Tracing the development of acute myeloid leukemia in CBL syndrome. Blood, 2014; 123 (12): 1883-1886.
- Becker-Heck A, Zohn IE, Okabe N, Pollock A, Lenhart KB, Sullivan-Brown J, McSheene J, Loges NT, Olbrich H, Haeffner K, Fliegauf M, Horvath J, Reinhardt R, Nielsen KG, Marthin JK, Baktai G, Anderson KV, Geisler R, Niswander L, Omran H, Burdine RD: The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet, 2011; 43 (1): 79-84. : http://dx.doi.org/10.1038/ng.727
- Becker J, Jakob A: alpha-Adrenergic stimulation of glycolysis and Na+, K+-transport in perfused rat liver. Eur J Biochem, 1982; 128 (2-3): 293-296.
- Becker J, Jakob A: The hepatic response to Ca2+ is inhibited by Mg2+ and enhanced by phenylephrine or ouabain. Biochim Biophys Acta, 1985; 844 (3): 352-358.
- Beck JF, Klingebiel T, Kreyenberg H, Schaudt A, Wolle W, Niethammer D, Bader P: [Relapse of childhood ALL, AML and MDS after allogeneic stem cell transplantation can be prevented by donor lymphocyte infusion in a critical stage of increasing mixed chimerism] Klin Padiatr, 2002; 214 (4): 201-205.
- Beck S., Kühr J., Schütz v.V., Seydewitz H.H., Brandis M., Greger R., Kunzelmann K.: Lack of correlation between CFTR expression, CFTR Cl-currents, amiloride-sensitive Na+ conductance, and cystic fibrosis phenotypes. Pediatric Pulmonology, 1999; 27: 251-259.
- Beetz N, Rommel C, Schnick T, Neumann E, Lother A, Monroy-Ordonez EB, Zeeb M, Preissl S, Gilsbach R, Melchior-Becker A, Rylski B, Stoll M, Schaefer L, Beyersdorf F, Stiller B, Hein L: Ablation of biglycan attenuates cardiac hypertrophy and fibrosis after left ventricular pressure overload. J Mol Cell Cardiol, 2016; 101: 145-155. : http://dx.doi.org/10.1016/j.yjmcc.2016.10.011
- Beetz N, Rommel C, Schnick T, Neumann E, Lother A, Monroy-Ordonez EB, Zeeb M, Preissl S, Gilsbach R, Melchior-Becker A, Rylski B, Stoll M, Schaefer L, Beyersdorf F, Stiller B, Hein L: Ablation of biglycan attenuates cardiac hypertrophy and fibrosis after left ventricular pressure overload. J Mol Cell Cardiol, 2016; 101: 145-155. : http://dx.doi.org/10.1016/j.yjmcc.2016.10.011
- Beetz R, Bokenkamp A, Brandis M, Hoyer P, John U, Kemper MJ, Kirschstein M, Kuwertz-Broking E, Misselwitz J, Muller-Wiefel DE, Rascher W.: [Diagnosis of congenital dilatation of the urinary tract.Consensus Group of the Pediatric Nephrology Working Society in cooperation with the Pediatric Urology Working Group of the German Society of Urology and with the Pediatric Urology Working Society in the Germany Society of Pediatric Surgery] Urologe A, 2001; 40 (6): 495-507.
- Beier R, Albert MH, Bader P, Borkhardt A, Creutzig U, Eyrich M, Ehlert K, Gruhn B, Greil J, Handgretinger R, Holter W, Klingebiel T, Kremens B, Lang P, Mauz-Korholz C, Meisel R, Muller I, Peters C, Reinhardt D, Sedlacek P, Schulz A, Schuster FR, Schrauder A, Strahm B, Sykora KW, Wossmann W, Zimmermann M, Sauer MG: Allo-SCT using BU, CY and melphalan for children with AML in second CR. Bone Marrow Transpl, 2013; 48: 651-656. : http://dx.doi.org/10.1038/bmt.2012.204
- Belaidi AA, Arjune S, Santamaria-Araujo JA, Sass JO, Schwarz G: Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum. JIMD Rep, 2012; 5: 35-43. : http://dx.doi.org/10.1007/8904_2011_89
- Belard S, Brand J, Schulze-Sturm U, Janda A, von Both U, Tacoli C, Alberer M, Kempf C, Stegemann MS, Kruger R, Varnholt V, Blohm M, Reiter K, Zoller T, Suttorp N, Mall M, von Bernuth H, Gratopp A, Hubner J, Hufnagel M, Kobbe R, Kurth F: Intravenous Artesunate for Imported Severe Malaria in Children Treated in Four Tertiary Care Centers in Germany: A Retrospective Study. Pediatr Infect Dis J, 2019; 38 (11): e295-e300. : http://dx.doi.org/10.1097/INF.0000000000002417
- Belzer F, Ebel K, Hugenschmidt B, Fressle R, Barth M: Frühe Hilfen in der Kinderarztpraxis – ein Freiburger Modellprojekt Kinderärztliche Praxis, 2015; 86 (6): 362-368.
- Belzer F, Golz T, Krug I, Barth M, Haeffner K: [Access to Early Childhood Interventions in Childrens Hospital: Screening as Clinical Routine Procedure - Exploration and Transfer by a Specialized Team]. Klin Padiatr, 2018; 230 (2): 81-87. : http://dx.doi.org/10.1055/s-0043-121990
- Belzer F, Kleinert L, Buchholz A, Mall V, Barth M: Pädiatrische Einschätzung von elterlichen Belastungen und Unterstützungsbedarf - Der Pädiatrische Anhaltsbogen im Praxistest Prävention und Gesundheitsförderung, 2015; 10 (4): 314-319. (download: http://10.1007/s11553-014-0480-z)
- Bender M, Stritt S, Nurden P, van Eeuwijk JM, Zieger B, Kentouche K, Schulze H, Morbach H, Stegner D, Heinze K, Dütting S, Gupta S, Witke W, Falet H, Fischer A, Hartwig JH, Nieswandt B: Megakaryocyte-specific Profilin 1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect. Nat Commun, 2014; 5 (online): 4746. : http://dx.doi.org/10.1038/ncomms5746
- Benesch M, Leuschner I, Wardelmann E, Thielen M, Schmid I, Kontny U, Ebetsberger G, Frey E, Graf N, Schneider DT, Kremens B, Amann G, Urban C, Schlemmer M, Quehenberger F, Klingebiel T, Dantonello T, Koscielniak E: Gastrointestinal stromal tumours in children and young adults: a clinicopathologic series with long-term follow-up from the database of the Cooperative Weichteilsarkom Studiengruppe (CWS). Eur J Cancer, 2011; 47 (11): 1692-1698. : http://dx.doi.org/10.1016/j.ejca.2011.03.014
- Benesch M, von Bueren AO, Dantonello T, von Hoff K, Pietsch T, Leuschner I, Claviez A, Bierbach U, Kropshofer G, Korinthenberg R, Graf N, Suttorp M, Kortmann RD, Friedrich C, von der Weid N, Kaatsch P, Klingebiel T, Koscielniak E, Rutkowski S: Primary intracranial soft tissue sarcoma in children and adolescents: a cooperative analysis of the European CWS and HIT study groups. J Neuro-oncol, 2013; 111 (3): 337-345.
- Benzing T, Gerke P, Hopker K, Hildebrandt F, Kim E, Walz G: Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2. P Natl Acad Sci Usa, 2001; 98: 9784-9789.
- Bera A, Herbert S, Jakob A, Vollmer W, Gotz F: Why are pathogenic staphylococci so lysozyme resistant? The peptidoglycan O-acetyltransferase OatA is the major determinant for lysozyme resistance of Staphylococcus aureus. Mol Microbiol, 2005; 55 (3): 778-787. : http://dx.doi.org/10.1111/j.1365-2958.2004.04446.x
- Berger A, Diener W, Korinthenberg R, Krägeloh-Mann I, Stephani U, Neubauer B, Todt H, Schächtele M, Rating D: Benigne Partialepilepsie des Kleinkindesalters (Watanabe) Monatsschr Kinderh, 2004; 152: 54-61.
- Berger A, Diener W, Stephani U, Schächtele M, Rating D: Benigne frühkindliche Partialepilepsie nach Watanabe Epilepsieblätter, 1997; 10: 76-80.
- Berger-Sallawitz F.: Suizidalität im Kindes- und Jugendalter. Kinderkrankenschwester, 1998; 08: 353.
- Bergmann C, Fliegauf M, Brüchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kränzlin B, Nürnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nürnberg P, Gretz N, Lo C, Lienkamp S, Schäfer T, Walz G, Benzing T, Zerres K, Omran H: Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia Am J Hum Genet, 2008; 82 (4): 959-970.
- Bergmann R.L., Dudenhausen J., Bergmann E., Bergmann, K.E., Schmidt E., Bauer C.B., Dorsch W., Forster J., Wahn, U: Wie werden Säugling in Deutschland ernährt?. Monatsschr Kinderheilkd, 1994; 142: 412-417.
- Bergmann R.L., edenharter G., Bergmann K.E., Forster J. Bauer C.P., Wahn V., Zepp F., Wahn U.: Atopic Dermatitis in early infancy predicts allergic airway disease at 5 years. clin. Exper. Allergy, 1998; 28: 965-970.
- Bergmann R.L., Edenharter G., Bergmann K.E., Guggenmoos-Holzmann I., Forster J., Bauer C.P., Wahn V., Zepp F., Wahn U.: Predictability of early atopy by cord blood-IgE and parental history. Clin. Exp. Allergy, 1997; 27: 752-760.
- Bergmann RL, Bergmann KE, Lau-Schadendorf S, Luck W, Dannemann A, Bauer CP, Dorsch W, Forster J, Schmidt E, Schulz J, Wahn U: Atopic diseases in infancy. The German multicenter atopy study (MAS-90). Pediatr Allergy Immunol., 1994; 5: 19-25.
- Bergstraesser E, Hasle H, Rogge T, Fischer A, Zimmermann M, Noellke P, Niemeyer CM: Non-hematopoietic stem cell transplantation treatment of juvenile myelomonocytic leukemia: a retrospective analysis and definition of response criteria. Pediatr Blood Cancer, 2007; 49 (5): 629-633. : http://dx.doi.org/10.1002/pbc.21038
- Bergsträsser E, Nissen B, Sauter S, Duffner U, Brandis M, Niemeyer C: Behandlung der akuten Immunthrombozytopenie des Kindesalters mit einer Einzeldosis Immunglobulin. Monatsschr Kinderheilkd, 1997; 145: 526-528.
- Bergsträsser E, Nissen B, Sauter S, Duffner U, Niemeyer C: Treatment of acute immun thrombocytopenia treatment of acute immune thrombocytopenia (ITP) in childhood with a single dose of intravenous imunoglobulin (letter). Pediatr. Hemat. Oncol., 1997; 14: 91-92.
- Bergwerff CE, Luman M, Blom HJ, Oosterlaan J: No Tryptophan, Tyrosine and Phenylalanine Abnormalities in Children with Attention-Deficit/Hyperactivity Disorder. Plos One, 2016; 11 (3): e0151100-e0151100. : http://dx.doi.org/10.1371/journal.pone.0151100
- Berner, Schumacher, Zimmerhackl LB, Frankenschmidt, A., Brandis M: Infection of the testis with salmonellosis. J Ped Inf Dis., 1994.
- Berner R: Soorinfektionen- ein Ausschlußgrund für Gemeinschaftseinrichtungen?. Pädiat. prax., 1993; 46: 288.
- Berner R: Soorinfektionen- ein Ausschlußgrund für Gemeinschaftseinrichtungen?. Tägl Prax, 1995; 36: 744.
- Berner R: Diphtherie als tödliche Krankheit - Fallberichte aus der Kinderklinik. Hautnah Pädiatrie, 1996; 8: 388-392.
- Berner R: Antimicrobial susceptibility pattern of streptococcus pneumoniae and haemophilus influenzae in a German pediatric hospital, 1993 to 1997. Pediatr. Infect. Dis. J., 1998; 17: 925-927.
- Berner R, Boisnard F, Thomas S, Mwawasi G, Reynolds D: Safety and immunogenicity of fully liquid DTaP(5)-IPV-Hib pediatric combination vaccine (Pediacel(R)) compared to DTaP(3)-HBV-IPV/Hib (Infanrix(R) Hexa) when coadministered with heptavalent pneumococcal conjugate vaccine (PCV7) as a booster at 11-18 months of age: a phase III, modified double-blind, randomized, controlled, multicenter study. Vaccine, 2012; 30 (35): 5270-5277. : http://dx.doi.org/10.1016/j.vaccine.2012.05.064
- Berner R, Csorba J, Brandis M: Different cytokine expression in cord blood mononuclear cells after stimulation with neonatal
sepsis or colonizing strains of Streptococcus agalactiae Pediatr Res, 2001; 49 (5): 691-697.
- Berner R, Furll B, Stelter F, Drose J, Muller HP, Schutt C: Elevated Levels of Lipopolysaccharide-Binding Protein and Soluble CD14
in Plasma in Neonatal Early-Onset Sepsis. Clin Diagn Lab Immun, 2002; 9 (2): 440-445.
- Berner R, Heinen F, Pelz K, Sauer M, Korinthenberg R: Ventricular shunt infection and meningitis due to Bacillus cereus in a young child with brain tumor Neuropediatrics, 1997; 28: 333-334.
- Berner R, Heinen F, Pelz K, van Velthoven V, Sauer M, Korinthenberg R: Ventricular shunt-infection and meningitis due to bacillus cereus. Neuropediatrics, 1997; 28: 333-334.
- Berner R, Herdeg S, Gordjani N, Brandis M: Streptococcus pyogenes meningitis: report of a case and review of the literature. Eur J Pediatr, 2000; Jul;159 (7): 527-529.
- Berner R, Kist M, Sauer M: Encephalopathy associated with Yersinia enterocolitica O:3. Lancet, 1998; 418.
- Berner R, Krause MF, Gordjani N, Zipfel PF, Boehm N, Krueger M, Brandis M, Zimmerhackl LB: Hemolytic uremic syndrome due to an altered factor H triggered by neonatal pertussis. Pediatr Nephrol, 2002; 17 (3): 190-192.
- Berner R, Leititis JU, Fürste HO, Brandis M: Bacterial tracheitis caused by corynebakterium diphtheriae. Eur. J. Pediatr., 1997; 156: 207-208.
- Berner R, Niemeyer C, Funke A, Tawfeek M, Rau U, Schwab C, Richter K, Leititis JU, Brandis M: Zytokine, Wachstumsfaktoren und Adhäsionsmoleküle bei Neugeborenen-Sepsis. Paediatr Paedol, 1994; 29: 57.
- Berner R, Niemeyer CM, Leititis JU, Funke A, Schwab C, Rau U, Richter K, Tawfeek MSK, Clad A, Brandis M: Plasma levels and gene-expression of G-CSF, TNF-alpha-IL-ß, IL-6, IL-8 and sICAM in neonatal early-onset sepsis. Pediatr. Res., 1998; 44: 469-477.
- Berner R, Niemeyer CM, Leititis JU, Funke A, Schwab C, Rau U, Richter K, Tawfeek MS, Clad A, Brandis M: Plasma levels and gene expression of granulocyte colony-stimulating factor, tumor necrosis factor-alpha, interleukin (IL)-1beta, IL-6, IL-8, and soluble intercellular adhesion molecule-1 in neonatal early onset sepsis. Pediatr Res, 1998; 44 (4): 469-477. : http://dx.doi.org/10.1203/00006450-199810000-00002
- Berner R, Pelz K, Funke A, Leititis JU, Brandis M: Fatal sepsis in a premature infant caused by corynebacterium amycolatum. J. Clin. Microbiol., 1997; 35: 1011-1012.
- Berner R, Ruess M, Bereswill S, Brandis M.: Polymorphisms in the cell wall-spanning domain of the C protein
beta-antigen in clinical Streptococcus agalactiae isolates are caused by
genetic instability of repeating DNA sequences. Pediatr Res, 2002; 51 (1): 106-111.
- Berner R, Sauter S, Duffner U, Brandis M, Niemeyer CM: Bakteriämie-Episoden bei pädiatrisch-onkologischen Patienten, insbesondere durch Streptokokken der Viridans-Gruppe. Klin Padiatr, 1998; 210: 256-260.
- Berner R, Sauter S, Duffner U, Brandis M, Niemeyer CM: [Bacteremic episodes in pediatric oncologic patients, especially caused by the Streptococcus viridans group]. Klin Padiatr, 1998; 210 (4): 256-260. : http://dx.doi.org/10.1055/s-2008-1043888
- Berner R, Sauter S, Michalski Y, Niemeyer C: Central venous catheter infection by Apergillus fumigatus in a patient with B-Type Non-Hodgkin-Lymphoma. Med. Pediatr. Oncol., 1996; 27: 202-204.
- Berner R, Sauter S, Michalski Y, Niemeyer CM: Central venous catheter infection by Aspergillus fumigatus in a patient with B-type non-Hodgkin lymphoma. Med Pediatr Oncol, 1996; 27 (3): 202-204. : http://dx.doi.org/10.1002/(SICI)1096-911X(199609)27:3<202::AID-MPO13>3.0.CO;2-H
- Berner R, Schumacher RF, Bartelt S, Forster J, Brandis M: Bacteremia in hospitalized children: predisposing conditions and case-related microorganisms. Eur J Clin Microbiol Infect Dis, 1998; 17: 337-340.
- Berner R, Schumacher RF, Brandis M, Forster J: Colonization and infection with Moraxella catarrhalis in childhood. Eur. J. Clin. Microbiol., 1996; 15: 506-509.
- Berner R, Schumacher RF, Forster J: Survey on Rotavirus-infections in a german pediatric hospital. Eur. J. Clin. Microbiol., 1997; 16: 479-481.
- Berner R, Schumacher RF, Frankenschmidt A, Zimmerhackl LB, Brandis M: Salmonella-Orchitis in a 10-week-old boy. Acta Paediatrica, 1994; 83: 992-993.
- Berner R, Schumacher RF, Hameister S, Forster J: Occcurence and impact of community acquired and nosocomial rotavirus-infections - a hospital-based study over 10 years Acta Paediatr., 1999; Suppl. 426: 48-52.
- Berner R, Schumacher RF, Zimmerhackl LB, Frankenschmidt A, Brandis M: Salmonella enteritidis orchitis in a 10-week old boy. Acta Paediatrica, 1994; 83: 992-993.
- Berner R, Schwoerer F, Schumacher RF, Meder M, Forster J: Community and nosocomially acquired respiratory syncytial virus infection in a German paediatric
hospital from 1988 to 1999 Eur J Pediatr, 2001; 160 (9): 541-547.
- Berner R, Tüxen B, Clad A, Forster J, Brandis M: Elevated gene expression of interleukin-8 in cord blood is a sensitive marker for neonatal infection. Eur J Pediatr, 2000; 159 (3): 205-210.
- Berner R, Welter P, Brandis M: Cytokine Expression of Cord and Adult Blood Mononuclear Cells in
Response to Streptococcus agalactiae. Pediatr Res, 2002; 51 (3): 304-309.
- Berner R., Bender A., Rensing C., Forster J., Brandis M.: Low prevalence of the immunoglobulin-A-binding beta antigen of the C protein among Streptococcus agalactiae isolates causing neonatal sepsis. Eur. J. Clin. Microbiol. Infect. Dis., 1999; 18: 545-550.
- Bertini E, Dessaud E, Mercuri E, Muntoni F, Kirschner J, Reid C, Lusakowska A, Comi GP, Cuisset JM, Abitbol JL, Scherrer B, Ducray PS, Buchbjerg J, Vianna E, van der Pol WL, Vuillerot C, Blaettler T, Fontoura P: Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. Lancet Neurol, 2017; 16 (7): 513-522. : http://dx.doi.org/10.1016/S1474-4422(17)30085-6
- Bertram H, Emmel M, Ewert P, Grohmann J, Haas NA, Jux C, Kehl HG, Kitzmuller E, Kretschmar O, Muller G, Wiebe W: Stenting of Native Right Ventricular Outflow Tract Obstructions in Symptomatic Infants. J Interv Cardiol, 2015; 28 (3): 279-287. : http://dx.doi.org/10.1111/joic.12198
- Berweck S, Walther M, Brodbeck V, Wagner N, Koerte I, Henschel V, Juenger H, Staudt M, Mall V: Abnormal motor cortex excitability in congenital stroke Pediatr Res, 2008; 63 (1): 84-88.
- Berweck S,, Staudt M,, Mall V,, Hodapp M,, Borggraefe I,, Kuhnke N,, Juenger H: Systemphysiologisch begründete Therapien bei Zerebralparese Monatsschr Kinderh, 2009; 157: 1113-1119.
- Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmuller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM: Survival patterns and cancer determinants in families with myotonic dystrophy type 1. Eur J Neurol, 2019; 26 (1): 58-65. : http://dx.doi.org/10.1111/ene.13763
- Bettendorf M, Albers N, Bauer J, Heinrich UE, Linderkamp O, Maser-Gluth: Longitudinal evaluation of salivary cortisol levels in full-term and preterm neonates Horm. Res., 1998; 50 (6): 303-308.
- Betz R, Rensing C, Otto E, Mincheva A, Zehnder D, Lichter P, Hildebrandt F: Children with ocular motor apraxia type Cogan carry deletions in the gene J Pediatr, 2000; 136 (6): 828-831.
- Beyer K, Nickel R, Freidhoff L, Bjorksten B, Huang SK, Barnes KC, MacDonald S, Forster J, Zepp F, Wahn V, Beaty TH, Marsh DG, Wahn U: Communications: association and linkage of atopic dermatitis with chromosome 13q12-14 and 5q31-33 markers J Invest Dermatol, 2000; 115 (5): 906-908.
- Beytia Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J: High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency. Mol Cell Probe, 2014; 28 (4): 118-122. : http://dx.doi.org/10.1016/j.mcp.2013.11.002
- Bez C, Schubert R, Kopp M, Ersfeld Y, Rosewich M, Kuehr J, Kamin W, Berg AV, Wahu U, Zielen S: Effect of anti-immunoglobulin E on nasal inflammation in patients with seasonal allergic rhinoconjunctivitis. Clin Exp Allergy, 2004; 34 (7): 1079-1085.
- Bicker A, Dietrich D, Gleixner E, Kristiansen G, Gorr TA, Hankeln T: Extensive transcriptional complexity during hypoxia-regulated expression of the myoglobin gene in cancer. Hum Mol Genet, 2014; 23: 479-490. : http://dx.doi.org/10.1093/hmg/ddt438
- Bielicki JA, Sharland M, Johnson AP, Henderson KL, Cromwell DA: Selecting appropriate empirical antibiotic regimens for paediatric bloodstream infections: application of a Bayesian decision model to local and pooled antimicrobial resistance surveillance data. J Antimicrob Chemoth, 2016; 71 (3): 794-802. : http://dx.doi.org/10.1093/jac/dkv397
- Bielicki JA,, Lundin R,, Sharland M,, for the ARPEC Project: Antibiotic resistance prevalence in routine bloodstream isolates from children’s hospitals varies substantially from adult surveillance data in Europe. Pediatr Infect Dis J, 2015; 34: 734-741.
- Bierbaum S, Forster J, Berner R, Rücker G, Rohde G, Neumann-Haefelin D, Panning M: Detection of respiratory viruses using a multiplex real-time PCR assay in Germany, 2009/10. Arch Virol, 2014; 159 (4): 669-676. : http://dx.doi.org/10.1007/s00705-013-1876-3
- Bierbaum S, Konigsfeld N, Besazza N, Blessing K, Rucker G, Kontny U, Berner R, Schumacher M, Forster J, Falcone V, van de Sand C, Essig A, Huzly D, Rohde G, Neumann-Haefelin D, Panning M: Performance of a novel microarray multiplex PCR for the detection of 23 respiratory pathogens (SYMP-ARI study). Eur J Clin Microbiol, 2012; 31 (10): 2851-2861. : http://dx.doi.org/10.1007/s10096-012-1639-1
- Bierbaum S, Konigsfeld N, Besazza N, Blessing K, Rucker G, Kontny U, Berner R, Schumacher M, Forster J, Falcone V, van de Sand C, Essig A, Huzly D, Rohde G, Neumann-Haefelin D, Panning M: Performance of a novel microarray multiplex PCR for the detection of 23 respiratory pathogens (SYMP-ARI study). Eur J Clin Microbiol, 2012; 31 (10): 2851-2861. : http://dx.doi.org/10.1007/s10096-012-1639-1
- Bierbaum S, Nickel R, Zitnik S, Ahlert I, Lau S, Deichmann KA, Wahn U, Heinzmann A: Confirmation of association of IL-15 with pediatric asthma and comparison of different controls. Allergy, 2006; 61 (5): 576-580.
- Bierbaum S, Sengler C, Gerhold K, Berner R, Heinzmann A: Polymorphisms within interleukin 15 are associated with juvenile idiopathic arthritis. Clin Exp Rheumatol, 2006; 24 (2): 219-219.
- Bierbaum S, Superti-Furga A, Heinzmann A: Genetic polymorphisms of chitotriosidase in Caucasian children with bronchial asthma. Int J Immunogenet, 2006; 33 (3): 201-204.
- Bierbaum S, Nickel R, Koch A, Lau S, Deichmann KA, Wahn U, Superti-Furga A, Heinzmann A: Polymorphisms and Haplotypes of Acid Mammalian Chitinase are associated with bronchial asthma. Am J Resp Crit Care, 2005; 172 (12): 1505-1509.
- Biesterfeld S, Rickert D, Eichler S, Fürste K, Mrusek S, Alfer J: TV-image Analysis Based Quantification of the Proliferative Activity and the Apoptotic Rate in Thyroid Tumors and Thyroiditis. Anticancer Res, 2003; 23: 4269-4275.
- Biewer ES, Zurn C, Arnold R, Glockler M, Schulte-Monting J, Schlensak C, Dittrich S: Chylothorax after surgery on congenital heart disease in newborns and infants -risk factors and efficacy of MCT-diet. J Cardiothorac Surg, 2010; 5 (1) (online): 127. : http://dx.doi.org/10.1186/1749-8090-5-127
- Binninger S, Brüstle P, Korinthenberg R Streitlein-Böhme I: Promotion of family-friendliness at the Medical Faculty of Freiburg - taking stock of study participation. GMS Z Med. Ausbild., 2012; 29 (2) (online).
- Birkenhager R, Otto E, Schurmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F: Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet, 2001; 29: 310-314.
- Bissé E, Sutor AH, Wieland H: Postnatal levels of fetal and adult hemoglobins at different times in the developement of a child with a gamma globin gene triplication. Int J Ped Hematol/Oncol, 1994; 1: 263-269.
- Bladen CL, Rafferty K, Straub V, Monges S, Moresco A, Dawkins H, Roy A, Chamova T, Guergueltcheva V, Korngut L, Campbell C, Dai Y, Barisic N, Kos T, Brabec P, Rahbek J, Lahdetie J, Tuffery-Giraud S, Claustres M, Leturcq F, Ben Yaou R, Walter MC, Schreiber O, Karcagi V, Herczegfalvi A, Viswanathan V, Bayat F, de la Caridad Guerrero Sarmiento I, Ambrosini A, Ceradini F, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Oliveira J, Santos R, Neagu E, Butoianu N, Artemieva S, Rasic VM, Posada M, Palau F, Lindvall B, Bloetzer C, Karaduman A, Topaloglu H, Inal S, Oflazer P, Stringer A, Shatillo AV, Martin AS, Peay H, Flanigan KM, Salgado D, von Rekowski B, Lynn S, Heslop E, Gainotti S, Taruscio D, Kirschner J, Verschuuren J, Bushby K, Beroud C, Lochmuller H: The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia. Hum Mutat, 2013; 34 (11): 1449-1457. : http://dx.doi.org/10.1002/humu.22390
- Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Viswanathan V, Bayat F, Buccella F, Kimura E, Koeks Z, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Zimowski J, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Jeannet PY, Joncourt F, Diaz-Manera J, Gallardo E, Karaduman AA, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Bellgard MI, Kirschner J, Flanigan KM, Straub V, Bushby K, Verschuuren J, Aartsma-Rus A, Beroud C, Lochmuller H: The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat, 2015; 36 (4): 395-402. : http://dx.doi.org/10.1002/humu.22758
- Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A, Pisano P, Walter MC, Schreiber O, Lusakowska A, Jedrzejowska M, Kostera-Pruszczyk A, van der Pol L, Wadman RI, Gredal O, Karaduman A, Topaloglu H, Yilmaz O, Matyushenko V, Rasic VM, Kosac A, Karcagi V, Garami M, Herczegfalvi A, Monges S, Moresco A, Chertkoff L, Chamova T, Guergueltcheva V, Butoianu N, Craiu D, Korngut L, Campbell C, Haberlova J, Strenkova J, Alejandro M, Jimenez A, Ortiz GG, Enriquez GV, Rodrigues M, Roxburgh R, Dawkins H, Youngs L, Lahdetie J, Angelkova N, Saugier-Veber P, Cuisset JM, Bloetzer C, Jeannet PY, Klein A, Nascimento A, Tizzano E, Salgado D, Mercuri E, Sejersen T, Kirschner J, Rafferty K, Straub V, Bushby K, Verschuuren J, Beroud C, Lochmuller H: Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J Neurol, 2014; 261 (1): 152-163. : http://dx.doi.org/10.1007/s00415-013-7154-1
- Blaser S, Horn J, Wurmell P, Bauer H, Strumpell S, Nurden P, Pagenstecher A, Busse A, Wunderle D, Hainmann I, Zieger B: The novel human platelet septin SEPT8 is an interaction partner of SEPT4. Thromb Haemostasis, 2004; 91 (5): 959-966.
- Blaser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B: Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202). Gene, 2003; 312: 313-320.
- Blaser S, Roseler S, Rempp H, Bartsch I, Bauer H, Lieber M, Lessmann E, Weingarten L, Busse A, Huber M, Zieger B: Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. J Pathol, 2006; 210 (1): 103-110.
- Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B: Human septin-septin interaction: CDCrel 1 partners with KIAA0202. Febs Lett, 2002; 519: 169-172.
- Blesinger H, Kaulfuss S, Aung T, Schwoch S, Prantl L, Rossler J, Wilting J, Becker J: PIK3CA mutations are specifically localized to lymphatic endothelial cells of lymphatic malformations. Plos One, 2018; 13 (7) (online): e0200343-e0200343. : http://dx.doi.org/10.1371/journal.pone.0200343
- Blumchen K, Beder A, Beschorner J, Ahrens F, Gruebl A, Hamelmann E, Hansen G, Heinzmann A, Nemat K, Niggemann B, Wahn U, Beyer K: Modified oral food challenge used with sensitization biomarkers provides more J Allergy Clin Immun, 2014; 134 (2): 390-398. : http://dx.doi.org/10.1016/j.jaci.2014.03.035
- Blumchen K, Trendelenburg V, Ahrens F, Gruebl A, Hamelmann E, Hansen G, Heinzmann A, Nemat K, Holzhauser T, Roeder M, Rosenfeld L, Hartmann O, Niggemann B, Beyer K: Efficacy, safety, and quality of life in a multi-center, randomized, placebo-controlled trial of low-dose peanut oral immunotherapy in peanut allergic children. J Aller Cl Imm-pract, 2018. : http://dx.doi.org/10.1016/j.jaip.2018.10.048 (in Druck)
- Blümle A, Meerpohl J, Rücker G, Antes G, Schumacher M, von Elm E: Reporting of eligibility criteria of randomised trials: cohort study comparing trial protocols with subsequent articles. Brit Med J, 2011; 342 (online): d1828. : http://dx.doi.org/10.1136/bmj.d1828
- Bocharov G, Klenerman P, Ehl S: Predicting the dynamics of antiviral cytotoxic T-cell memory in response to different stimuli: cell
population structure and protective function. Immunol Cell Biol, 2001; 79: 74-76.
- Bocharov G, Klenerman P, Ehl S: Predicting the dynamics of antiviral cytotoxic T-cell memory in response to different stimuli: cell population structure and protective function. Immunol Cell Biol, 2001; 79 (1): 74-86.
- Bocharov G, Klenerman P, Ehl S: Modelling the dynamics of LCMV infection in mice: II. Compartmental structure and immunopathology. J Theor Biol, 2003; 221 (3): 349-378.
- Bocharov G, Klenerman P, Ehl S: Modelling the dynamics of LCMV infection in mice: II. Compartmental structure and immunopathology. J Theor Biol, 2003; 221 (3): 349-378.
- Boczonadi V, Meyer K, Gonczarowska-Jorge H, Griffin H, Roos A, Bartsakoulia M, Bansagi B, Ricci G, Palinkas F, Zahedi RP, Bruni F, Kaspar B, Lochmuller H, Boycott KM, Muller JS, Horvath R: Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons. Hum Mol Genet, 2018; 27 (12): 2187-2204. : http://dx.doi.org/10.1093/hmg/ddy127
- Bode C, Hanson SR, Schmedje JF, Haber E, Mehwald P, Kelly AB, Harker LA, Runge MS: Antithrombotic potency of hirudin is increased in nonhuman primates by fibrin targeting. Circulation 95, 1997; 4: 800-804.
- Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Gross-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S: The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis. Haematologica, 2015; 100 (7): 978-988. : http://dx.doi.org/10.3324/haematol.2014.121608
- Bode SF, Bogdan C, Beutel K, Behnisch W, Greiner J, Henning S, Jorch N, Jankofsky M, Jakob M, Schmid I, Veelken N, Vraetz T, Janka G, Ehl S, Lehmberg K: Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area. J Pediatr-us, 2014; 165 (1): 147-153.e1. : http://dx.doi.org/10.1016/j.jpeds.2014.03.047
- Bode SF, Egg M, Wallesch C, Hermanns-Clausen M: 10-fold liraglutide overdose over 7 months resulted only in minor side-effects. J Clin Pharmacol, 2013; 53 (7): 785-786. : http://dx.doi.org/10.1002/jcph.94 (download: http://onlinelibrary.wiley.com/doi/10.1002/jcph.94/abstract)
- Bode SF, Giesler M, Heinzmann A, Kruger M, Straub C: Self-perceived attitudes toward interprofessional collaboration and interprofessional education among different health care professionals in pediatrics. GMS J Med Educ, 2016; 33 (2) (online): 1-15. : http://dx.doi.org/10.3205/zma001016
- Bode SF, Straub C, Giesler M, Biller S, Forster J, Kruger M: Audience-response systems for evaluation of pediatric lectures-comparison with a classic end-of-term online-based evaluation. GMS Z Med Ausbild, 2015; 32 (2) (online): Doc18-Doc18. : http://dx.doi.org/10.3205/zma000960
- Bode SF,, Jehle T, Bach M.: Pattern electroretinogram in glaucoma suspects: new findings from a longitudinal study. Invest Ophth Vis Sci, 2011; 52 (7): 4300-4306. : http://10.1167/iovs.10-6381
- Bode SFN,, Schulze I, Vraetz T, Strahm B, Ehl S, Speckmann C: Rezidivierende Otitiden und Pneumonien. Kinderärztliche Praxis, 2012; 3: 152-154.
- Bode SFN,, Vraetz T, Schulze I, Strahm B, Ehl S, Speckmann C: Ein 11 Jahre alter Junge mit rezidivierenden bronchialen Infekten. Kinderärztliche Praxis, 2012; 3: 149-151.
- Bode SFN,, Vraetz T, Schulze I, Strahm B, Ehl S, Speckmann C: Ein 5-monatiger Säugling mit rezidierenden Bronchitiden und Gedeihstörung. Kinderärztliche Praxis, 2012; 3: 155-156.
- Bode SFN,, Vraetz T, Schulze I, Strahm B, Ehl S, Speckmann C: Rezidivierende Abszesse und Kolitis. Kinderärztliche Praxis, 2012; 3: 158-160.
- Bode SFN,, Vraetz T, Schulze I, Strahm B, Ehl S, Speckmann C: iarrhoe, Gedeihstörung, Infektanfälligkeit und Ekzem. Kinderärztliche Praxis, 2012; 3: 161-162.
- Bode SFN,, Vraetz T, Schulze I, Strahm B, Ehl S, Speckmann C: Eine ausgeprägte EBV-Infektion. Kinderärztliche Praxis, 2012; 3: 164-167.
- Bodi I, Grünert SC, Becker N, Stoelzle-Feix S, Spiekerkoetter U, Zehender M, Bugger H, Bode C, Odening KE: Mechanisms of acquired long QT syndrome in patients with propionic academia. Heart Rhythm, 2016; 13 (6): 1335-1345. : http://dx.doi.org/10.1016/j.hrthm.2016.02.003
- Boeckelmann D, Hengartner H, Greinacher A, Nowak-Gottl U, Sachs UJ, Peter K, Sandrock-Lang K, Zieger B: Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. Blood Cell Mol Dis, 2017; 67: 69-74. : http://dx.doi.org/10.1016/j.bcmd.2017.01.010
- Boedeker CC, Erlic Z, Richard S, Kontny U, Gimenez-Roqueplo AP, Cascon A, Robledo M, de Campos JM, van Nederveen FH, de Krijger RR, Burnichon N, Gaal J, Walter MA, Reschke K, Wiech T, Weber J, Rückauer KPlouin PF, Darrozet V, Giraud S, Eng C, Neumann HP: Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J Clin Endocr Metab, 2009; 94 (6): 1938-1944.
- Boettler P, Claus P, Herbots L, McLaughlin M, D'hooge J, Bijnens B, Ho SY, Kececioglu D, Sutherland GR: New aspects of the ventricular septum and its function: an echocardiographic study. Heart, 2005; 91 (10): 1343-1348.
- Boettler P, Hartmann M, Watzl K, Maroula E, Schulte-Moenting J, Knirsch W, Dittrich S, Kececioglu D: Heart Rate Effects on Strain and Strain Rate in Healthy Children. J Am Soc Echocardiog, 2005; 18 (11): 1121-1130.
- Böhler T,, Bruder I,, Ruef P,, Arand J,, Teufel M,, Mohrmann M,, Hentschel R: Necrotizing enterocolitis and focal intestinal perforation in neonatal intensive care units in the state of baden-württemberg, Germany Pediatr Rep, 2014; 6 (1) (online): 5194. : http://doi: 10.4081/pr.2014.5194 (in Druck)
- Bohn B, Mönkemöller K, Hilgard D, Dost A, Schwab KO, Lilienthal E, Hammer E, Hake K, Fritsch M, Gohlke B, de Beaufort C, Holl RW: Oral contraception in adolescents with type 1 diabetes and its association with cardiovascular risk factors. A multicenter DPV study on 24 011 patients from Germany, Austria or Luxembourg.
Pediatr Diabetes, 2018; 19 (5): 937-944. : http://dx.doi.org/10.1111/pedi.12656.
- Bohnet W., Kühr J., Kopp M., Ulmer C., Ihorst G., Forster J.: Effekt der natürlichen Ozonexposition auf lungenmechanische Meßgrößen bei Grundschülern. Monatsschrift Kinderheilkunde, 1999; 146: 617-621.
- Bohnet W., Kühr J., Kopp M. Ulmer C., Ihorst G., Forster J.: Effekt der natürlichen Ozonexposition auf lungenmechanische Meßgrößen bei Grundschülern. Monatschrift Kinderheilkkunde, 1998; 146: 617-621.
- Bojarskas J, Gaigaliene R, Gidriene D, Kudzyte J, Vaideliene L, Forster J: Populiaciniu tyrimu reiksme vaiku bronchines astoms diagnostikai. Medicina, 1997; 33: 13-17.
- Bollig C, Schell LK, Rücker G, Allert R, Motschall E, Niemeyer CM, Bassler D, Meerpohl JJ: Deferasirox for managing iron overload in people with thalassaemia. Cochrane Db Syst Rev, 2017; 8 (online): CD007476. : http://dx.doi.org/10.1002/14651858.CD007476.pub3
- Bonafe L, Dermitzakis ET, Unger S, Greenberg CR, Campos-Xavier BA, Zankl A, Ucla C, Antonarakis SE, Superti-Furga A, Reymond A: Evolutionary comparison provides evidence for pathogenicity of RMRP mutations. PloS Genetics, 2005; 1 (4): e47.
- Bonafé L, Hastbacka J, de la Chapelle A, Campos-Xavier AB, Chiesa C, Forlino A, Superti-Furga A, Rossi A: A novel mutation in the sulphate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. J Med Genet, 2008; 45 (12): 827-831.
- Bonnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Beroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN: Diagnostic approach to the congenital muscular dystrophies. Neuromuscular Disord, 2014; 24 (4): 289-311. : http://dx.doi.org/10.1016/j.nmd.2013.12.011
- Booth C, Gilmour KC, Veys P, Genney AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik-Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB: X-linked lymphoproliferatve disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood, 2011; 117 (1): 53-62.
- Borhani Haghighi A, Nabavizadeh A, Sass JO, Safari A, Lankarani KB: Mitochondrial neurogastrointestinal encephalomyopathy. Arch Iran Med, 2009; 12 (6): 588-590.
- Boria I, Garelli E, Gauda H, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Da Costa L, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros C, Clinton C, Dobson L, Vlachos A, Atsidaftos E, Lipton J, Ellis SR, Ramenghi U, Dianzani L: The ribosomal basis of Diamond-Blackfan anemia: mutation and database update. Hum Mutat, 2010; 31 (12): 1269-1279.
- Borrek S, Hildebrandt A, Forster J: Gammalinolensäure-reiche Borretschsamenöl-Kapseln bei Kindern mit Atopischer Dermatitis-Eine placebokontrollierte Doppelblind-Studie. Klin Pädiatr, 1997; 209: 100-104.
- Borusiak P, Bast T, Kluger G, Weidenfeld A, Langer T, Jenke AC, Wiegand G: A longitudinal, randomized, and prospective study of nocturnal monitoring in children and adolescents with epilepsy: Effects on quality of life and sleep. Epilepsy Behav, 2016; 61: 192-198. : http://dx.doi.org/10.1016/j.yebeh.2016.05.035
- Bosse HM, Gaedicke G, Gross M, Forster J, Hoffmann F, Krüger M, Muntau AC, Reinhardt D, Schatz UA, Sostmann K, Superti-Furga A: 4 innovative pädiatrische Curricula Monatsschr Kinderh, 2008; 156: 436-445.
- Botezatu L, Michel LC, Makishima H, Schroeder T, Germing U, Haas R, van der Reijden B, Marneth AE, Bergevoet SM, Jansen JH, Przychodzen B, Wlodarski M, Niemeyer C, Platzbecker U, Ehninger G, Unnikrishnan A, Beck D, Pimanda J, Hellstrom-Lindberg E, Malcovati L, Boultwood J, Pellagatti A, Papaemmanuil E, Le Coutre P, Kaeda J, Opalka B, Moroy T, Duhrsen U, Maciejewski J, Khandanpour C: GFI1(36N) as a therapeutic and prognostic marker for myelodysplastic syndrome. Exp Hematol, 2016; 44 (7): 590-595.e1. : http://dx.doi.org/10.1016/j.exphem.2016.04.001
- Bouderlique T, Pena-Perez L, Kharazi S, Hils M, Li X, Krstic A, De Paepe A, Schachtrup C, Gustafsson C, Holmberg D, Schachtrup K, Mansson R: The Concerted Action of E2-2 and HEB Is Critical for Early Lymphoid Specification. Front Immunol, 2019; 10: 455-455. : http://dx.doi.org/10.3389/fimmu.2019.00455
- Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C.: NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet, 2000; 24: 349-354.
- Bouyou-Akotet MK,, Ramharter M, Ngoungou EB, Mamfoumbi MM, Mihindou MP, Missinou MA, Kurth F,, Bélard S, Agnandji ST, Issifou S, Heidecker JL, Trapp S, Kremsner PG, Kombila M.: Efficacy and safety of a new pediatric artesunate-mefloquine drug formulation for the treatment of uncomplicated falciparum malaria in Gabon. Wien Klin Wochenschr, 2010; 122 (5-6): 173-178.
- Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Nake A, Lindner M, Heringer J, Hoffmann GF, Muhlhausen C, Maier EM, Ensenauer R, Garbade SF, Kolker S: Newborn screening: A disease-changing intervention for glutaric aciduria type 1. Ann Neurol, 2018; 83 (5): 970-979. : http://dx.doi.org/10.1002/ana.25233
- Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, Germeshausen M, Brandes G, Lee-Gessler J, Noyan F, Gatzke AK, Minkov M, Greil J, Kratz C, Petropoulou T, Pellier I, Bellanné-Chantelot C, Rezaei N, Mönkemöller K, Irani-Hakimeh N, Bakker H, Gerardy-Schahn R, Zeidler C, Grimbacher B, Welte K, Klein C: A syndrome with congenital neutropenia caused by mutations in G6PC3. New Engl J Med, 2009; 360: 32-43.
- Brado J, Dechant MJ, Menza M, Komancsek A, Lang CN, Bugger H, Foell D, Jung BA, Stiller B, Bode C, Odening KE: Phase-contrast magnet resonance imaging reveals regional, transmural, and base-to-apex dispersion of mechanical dysfunction in patients with long QT syndrome. Heart Rhythm, 2017; 14 (9): 1388-1397. : http://dx.doi.org/10.1016/j.hrthm.2017.04.045
- Brandau O., Schuster V., Weiss M., Hellebrand H., Fink FM., Kreczy A., Friedrich W., Strahm B., Niemeyer C., Belohradsky BH., Meindl A.: Epstein-barr virus-negative boys with non-hodgkin lymphoma are mutated in SH2D1A gene, as are patients with x-linked lymphoproliferative disease. Hum. Mol. Genet., 1999; Dec;8(13): 2407-2413.
- Brandis M: Presentation of the 2001 Jean Hamburger Award to Professor Anita Aperia. Kidney Int, 2003; 63 (6): 2335-2336.
- Braun DA, Sadowski CE, Kohl S, Lovric S, Astrinidis SA, Pabst WL, Gee HY, Ashraf S, Lawson JA, Shril S, Airik M, Tan W, Schapiro D, Rao J, Choi WI, Hermle T, Kemper MJ, Pohl M, Ozaltin F, Konrad M, Bogdanovic R, Buscher R, Helmchen U, Serdaroglu E, Lifton RP, Antonin W, Hildebrandt F: Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome. Nat Genet, 2016; 48 (4): 457-465. : http://dx.doi.org/10.1038/ng.3512
- Braunschweiger F, Otten JE, Rößler J: Diagnostik und Therapie von Malformationen der Lymphgefäße im Kopf- und Halsbereich. LymphForsch, 2012; 16 (1): 6-11.
- Bräutigam P, Zimmerhackl LB, Frankenschmidt A, Stöver B, Brandis M, Moser E: Ergebnisse der Nierenfunktionsszintigraphie bei kongenitaler Ureterabgangsstenose. Monatssch Kinderheilkde, 1994; 142: 975-980.
- Breit S, Ashman K, Wilting J, Rossler J, Hatzi E, Fotsis T, Schweigerer L: The N-myc oncogene in human neuroblastoma cells: down-regulation of an angiogenesis inhibitor identified as activin A. Cancer Res, 2000; 60 (16): 4596-4601.
- Breit S, Rossler J, Fotsis T, Schweigerer L: N-myc down-regulates activin A. Biochem Bioph Res Co, 2000; 274 (2): 405-409. : http://dx.doi.org/10.1006/bbrc.2000.3147
- Bresolin S, Zecca M, Flotho C, Trentin L, Zangrando A, Sainati L, Stary J, de Moerloose B, Hasle H, Niemeyer CM, Te Kronnie G, Locatelli F, Basso G: Gene expression-based classification as an independent predictor of clinical outcome in juvenile myelomonocytic leukemia. J Clin Oncol, 2010; 28 (11): 1919-1927. : http://dx.doi.org/10.1200/JCO.2009.24.4426
- Bretschneider I, Clemente MJ, Meisel C, Guerreiro M, Streitz M, Hopfenmüller W, Maciejewski JP, Wlodarski MW, Volk HD: Discrimination of T-cell subsets and T-cell receptor repertoire distribution. Immunol Res, 2014; 58 (1): 20-27. : http://dx.doi.org/10.1007/s12026-013-8473-0
- Breuning, M, Hettmer, S, Strahm, B, Bengel, J, Niemeyer, CM: Krebskranke Kinder und ihre Familien: Verständnis für das Erleben. Dtsch Arztbl, 2016; 113 (51): A2362-A2363.
- Brickmann C, Leonhardt A, Auwärter V, Sassen MC: Respiratorische Insuffizienz durch Konsum synthetischer Cannabinoide. Pädiatrische Praxis, 2014; 81: 267-275.
- Briegel W, Hofmann C, Schwab KO: Moebius sequence: behaviour problems of preschool children and parental stress. Genet Counsel, 2007; 18 (3): 267-275.
- Briegel W, Schneider M, Schwab KO: 22q11.2 deletion syndrome: behaviour problems of infants and parental stress. Child Care Hlth Dev, 2007; 33 (3): 319-324.
- Briegel W,, Hofmann C,, Schwab KO.: Behaviour problems of patients with Moebius sequence and parental stress. Journal of paediatrics and child health, 2010; 46 (4): 144-148.
- Briegel W,, Schneider M,, Schwab KO.: 22q11.2 deletion syndrome: behaviour problems of children and adolescents and parental stress. Child Care Hlth Dev, 2008; 34 (6): 795-800.
- Briegel W, Schimek M, Kamp-Becker I, Hofmann C, Schwab KO: Autism spectrum disorders in children and adolescents with Moebius sequence. Eur Child Adoles Psy, 2009; 18 (8): 515-519.
- Briegel W, Schneider M,, Schwab KO: 22q11.2 deletion: Handicap-related problems and coping strategies of primary caregivers. Z Kinder Jugendpsychiatr Psychother, 2009; 37 (6): 535-540.
- Briel M, Lane M, Montori VM, Bassler D, Glasziou P, Malaga G, Akl EA, Ferreira-Gonzalez I, Alonso-Coello P, Urrutia G, Kunz R, Culebro CR, da Silva SA, Flynn DN, Elamin MB, Strahm B, Murad MH, Djulbegovic B, Adhikari NK, Mills EJ, Gwadry-Sridhar F, Kirpalani H, Soares HP, Elnour NO, You JJ, Karanicolas PJ, Bucher HC, Lampropulos JF, Nordmann AJ, Burns KE, Mulla SM, Raatz H, Sood A, Kaur J, Bankhead CR, Mullan RJ, Nerenberg KA, Vandvik PO, Coto-Yglesias F, Schünemann H, Tuche F, Chrispim PP Cook DJ, Lutz K, Ribic CM, Vale N, Erwin PJ, Perera R, Zhou Q, Heels-Ansdell D, Ramsay T, Walter SD, Guyatt GH: Stopping randomized trials early for benefit: a protocol of the Study of Trial Policy of Interim Truncation-2 (STOPIT-2). Trials, 2009; 10: 49.
- Brignier AC, Mahlaoui N, Reimann C, Picard C, Kracker S, de Vergnes N, Rieux-Laucat F, Frange P, Suarez F, Neven B, Masseau A, Aladjidi N, Donadieu J, Corby A, Bienvenu B, Cony-Makhoul P, Fischer A, Cavazzana M, Durandy A: Early-onset hypogammaglobulinemia: A survey of 44 patients. J Allergy Clin Immun, 2015; 136 (4): 1097-1099.e2. : http://dx.doi.org/10.1016/j.jaci.2015.03.038
- Brixel LR, Monteilh-Zoller MK, Ingenbrandt CS, Fleig A, Penner R, Enklaar T,, Zabel B, Prawitt D: TRPM5 regulates glucose-stimulated insulin secretion Pflug Arch Eur J Phy, 2010; 460 (1): 69-76.
- Bruder JC, Dumpelmann M, Piza DL, Mader M, Schulze-Bonhage A, Jacobs-Le Van J: Physiological Ripples Associated with Sleep Spindles Differ in Waveform Morphology from Epileptic Ripples. Int J Neural Syst, 2017; 27 (7) (online): 1750011-1750011. : http://dx.doi.org/10.1142/S0129065717500113
- Brune T, Baytar-Dagly B, Hentschel R, Harms E, Louwen F: Infants of mothers with HELLP syndrome compensate intrauterine growth retardation faster than unaffected premature infants: does HELLP change fetal programming? Biol Neonate, 2002; 82 (3): 174-180.
- Brune T, Garritsen H, Hentschel R, Louwen F, Harms E, Jorch G: Efficacy, recovery, and safety of RBCs from autologous placental blood: clinical experience in 52 newborns. Transfusion, 2003; 43: 1210-1216.
- Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S: A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood, 2012; 119 (12): 2754-2763. : http://dx.doi.org/10.1182/blood-2011-08-374199
- Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P: Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell, 2006; 124 (2): 287-299.
- Buderus S, Scholz D, Behrens R, Classen M, De Laffolie J, Keller KM, Zimmer KP, Koletzko S: Inflammatory bowel disease in pediatric patients: Characteristics of newly diagnosed patients from the CEDATA-GPGE Registry. DTSCH ARZTEBL INT, 2015; 112 (8): 121-127. : http://dx.doi.org/10.3238/arztebl.2015.0121
- Buderus S, Scholz D, Behrens R, Classen M, De Laffolie J, Keller KM, Zimmer KP, Koletzko S: Inflammatory bowel disease in pediatric patients: Characteristics of newly diagnosed patients from the CEDATA-GPGE Registry. DTSCH ARZTEBL INT, 2015; 112 (8): 121-127. : http://dx.doi.org/10.3238/arztebl.2015.0121
- Budny B, Chen W, Omran H, Fliegauf M, Tzschach A, Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH: A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome J Hum Genet, 2006; 120: 171-178.
- Bulley SR, Strahm B, Doyle J, Lee Dupuis L: Defibrotide for the treatment of hepatic veno-occlusive disease in children Pediatr Blood Cancer, 2006. (in Druck)
- Bunchman T, Navarro M, Broyer M, Sherbotie J, Chavers B, Tonshoff B, Birk P, Lerner G, Lirenman D, Greenbaum L, Walker R, Zimmerhackl LB, Blowey D, Clark G, Ettenger R, Arterburn S, Klamerus K, Fong A, Tang H, Thomas S, Ramos E.: The use of mycophenolate mofetil suspension in pediatric renal allograft recipients. Pediatr Nephrol, 2001; 16: 978-984.
- Buonocore F, Kuhnen P, Suntharalingham JP, Del Valle I, Digweed M, Stachelscheid H, Khajavi N, Didi M, Brady AF, Blankenstein O, Procter AM, Dimitri P, Wales JK, Ghirri P, Knobl D, Strahm B, Erlacher M, Wlodarski MW, Chen W, Kokai GK, Anderson G, Morrogh D, Moulding DA, McKee SA, Niemeyer CM, Gruters A, Achermann JC: Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans. J Clin Invest, 2017; 127 (5): 1700-1713. : http://dx.doi.org/10.1172/JCI91913
- Burger BJ, Niemeyer CM: [Leukemias in children and adolescents]. Med Monatsschr Pharm, 1999; 22 (6): 175-183.
- Bürger BJ, Niemeyer C: Leukämien bei Kindern und Jugendlichen Medizin Monatsschr Pharmazeuten, 1999; 22: 175.
- Burgi J, Kunz B, Abrami L, Deuquet J, Piersigilli A, Scholl-Burgi S, Lausch E, Unger S, Superti-Furga A, Bonaldo P, van der Goot FG: CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome. Nat Commun, 2017; 8: 15861-15861. : http://dx.doi.org/10.1038/ncomms15861
- Burkhardt B, Woessmann W, Zimmermann M, Kontny U, Vormoor J, Doerffel W, Mann G, Henze G, Niggli F, Lduwig WD, Janssen D, Riehm H, Schrappe M, Reiter A: Impact of cranial radiotherapy on central nervous system prophylaxis in children and adolescents with central nervous system-negative stage III or IV lymphoblastic lymphoma. J Clin Oncol, 2006; 24 (3): 491-499.
- Burkhardt BE, Arnold R, Schlensak C, Bokenkamp R, Stiller B: Aorto-right ventricular tunnel causing functional tricuspid atresia. Circulation, 2012; 125 (16): e591-e594. : http://dx.doi.org/10.1161/CIRCULATIONAHA.111.062570
- Burkhardt BE, Fischer PR, Brands CK, Porter CB, Weaver AL, Yim PJ, Pianosi PT: Exercise Performance in Adolescents with Autonomic Dysfunction. J Pediatr-us, 2011; 158 (1): 15-19.e1. : http://dx.doi.org/10.1016/j.jpeds.2010.07.020
- Burkhardt BE, Rucker G, Stiller B: Prophylactic milrinone for the prevention of low cardiac output syndrome and mortality in children undergoing surgery for congenital heart disease. Cochrane Db Syst Rev, 2015; 3 (online): CD009515-CD009515. : http://dx.doi.org/10.1002/14651858.CD009515.pub2
- Burkhardt BE, Stiller B, Grohmann J: Stenting of the obstructed ductus venosus as emergency and bridging strategy in a very low birth weight infant with infradiaphragmatic total anomalous pulmonary venous connection. Catheter Cardio Inte, 2014; 84 (5): 820-823. : http://dx.doi.org/10.1002/ccd.25560
- Burkhardt BE, Stiller B, Grohmann J: Stenting of the obstructed ductus venosus as emergency and bridging strategy in a very low birth weight infant with infradiaphragmatic total anomalous pulmonary venous connection. Catheter Cardio Inte, 2014; 84 (5): 820-823. : http://dx.doi.org/10.1002/ccd.25560
- Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sanchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG: A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. New Engl J Med, 2015; 373 (11): 1010-1020. : http://dx.doi.org/10.1056/NEJMoa1501365
- Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM: Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve, 2014; 50 (4): 477-487. : http://dx.doi.org/10.1002/mus.24332
- Buyse GM, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, McDonald CM, Rummey C, Meier T: Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. Lancet, 2015; 385 (9979): 1748-1757. : http://dx.doi.org/10.1016/S0140-6736(15)60025-3
- Byrgazov K, Kastner R, Gorna M, Hoermann G, Koenig M, Lucini CB, Ulreich R, Benesch M, Strenger V, Lackner H, Schwinger W, Sovinz P, Haas OA, van den Heuvel-Eibrink M, Niemeyer CM, Hantschel O, Valent P, Superti-Furga G, Urban C, Dworzak MN, Lion T: NDEL1-PDGFRB fusion gene in a myeloid malignancy with eosinophilia associated with resistance to tyrosine kinase inhibitors. Leukemia, 2017; 31: 237-240. : http://dx.doi.org/10.1038/leu.2016.250
- Bzduch V, Behulova D, Fabriciova K, Salingova A, Saligova J, Stastna S, Lehnert W, Sass JO, Koza L, Benedekova M: Deficit MCAD - nase skusenosti so styrmi sympatomatickymi pacientami. Ces-Slov Pediat, 2003; 58 (7): 430-432.
- Bzduch V, Behulova D, Fabricova K, Sass JO: Klinicke priznaky poruch beta-oxidacie mastnych kyselin
[Clinical features of fatty acid beta-oxidation defects] Pediatria (Bratisl.), 2009; 4 (2): 81-84.
- Bzduch V, Behulova D, Lehnert W, Fabriciova K, Kozak L, Salingova A, Hrabincova E, Benedekova M.: Metabolic cause of Reye-like syndrome. Bratisl Lek Listy, 2001; 102: 427-429.
- Bzdúch V, Lehnert W, Behúlová D, Kozák L, Hrabincová E, Fabriciova K, Ãalingová A, Benedeková M: Gypsy origin of the first case of MCAD deficiency in Slovakia, detected by tandem mass spectrometry. J Inherit Metab Dis, 2001; 24 Suppl. 1: 67.
- C. Reihle, V. van Velthoven-Wurster, M. Eckenweiler1, B. Zieger3, O. Moske-Eick4, J. Kirschner1, R. Korinthenberg1: Verlauf bei 3 Kindern mit Moya-Moya Monatsschr Kinderh, 2011; 159 Suppl. 3: 220.
- Caffier PP, Berl JC, Muggli A, Reinhardt A, Jakob A, Moser M, Fietze I, Scherer H, Holzl M: Snoring noise pollution-the need for objective quantification of annoyance, regulatory guidelines and mandatory therapy for snoring. Physiol Meas, 2007; 28 (1): 25-40. : http://dx.doi.org/10.1088/0967-3334/28/1/003
- Campagna DR, de Bie CI, Schmitz-Abe K, Sweeney M, Sendamarai AK, Schmidt PJ, Heeney MM, Yntema HG, Kannengiesser C, Grandchamp B, Niemeyer CM, Knoers NV, Swart S, Marron G, van Wijk R, Raymakers RA, May A, Markianos K, Bottomley SS, Swinkels DW, Fleming MD: X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations. Am J Hematol, 2014; 89 (3): 315-319.
- Campana D, Flotho C, Coustan-Smith E, Pui CH, Downing JR: Molecular predictors of outcome in acute lymphoblastic leukemia Ann Hematol, 2008; 87: S40-S42.
- Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L: Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet, 2009; 84 (6): 760-770. : http://dx.doi.org/10.1016/j.ajhg.2009.05.002
- Candotti F, Oakes SA, Giliani S, Johnston JA, Schumacher RF, Bodolato R, Notarangelo LD, Bozzi F, Strina D, Vezzoni P, Blaese MR, O' Shea JJ, Villa A: Structural and functional basis for JAK 3-deficient severe combined immunodeficiency. Blood, 1997; 90: 3996-4003.
- Cantú Rajnoldi A, Fenu S, Kerndrup G, van Wering ER, Niemeyer CM, Baumann I, for the European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS): Evaluation of dysplastic features in myelodysplastic syndromes: experience from the morphology group of the European Working Group of MDS in Childhood (EWOG-MDS) Ann Hematol, 2005; 84: 429-433.
- Cao J, O'Donnell D, Vu H, Payza K, Pou C, Godbout C, Jakob A, Pelletier M, Lembo P, Ahmad S, Walker P: Cloning and characterization of a cDNA encoding a novel subtype of rat thyrotropin-releasing hormone receptor. J Biol Chem, 1998; 273 (48): 32281-32287.
- Capuano F, Mulleder M, Kok R, Blom HJ, Ralser M: Cytosine DNA methylation is found in Drosophila melanogaster but absent in Saccharomyces cerevisiae, Schizosaccharomyces pombe, and other yeast species. Anal Chem, 2014; 86 (8): 3697-3702. : http://dx.doi.org/10.1021/ac500447w
- Cario H, Grosse R, Janssen G, Jarisch A, Meerpohl J, Strauss G: Guidelines for diagnosis and treatment of secondary iron overload in patients with congenital anemia. Klin Padiatr, 2010; 222 (6): 399-406.
- Carnevalli LS, Scognamiglio R, Cabezas-Wallscheid N, Rahmig S, Laurenti E, Masuda K, Jöckel L, Kuck A, Suier S, Polykratis A, Erlacher M, Pasparakis M, Essers MA, Trumpp A: Improved HSC reconstitution and protection from inflammatory stress and chemotherapy in mice lacking granzyme B. J Exp Med, 2014; 211 (5): 769-779. : http://dx.doi.org/10.1084/jem.20131072
- Carrier F, Georgel PT, Pourquier P, Blake M, Kontny HU, Antinore MJ, Gariboldi M, Myers TG, Weinstein J, Pommier Y, Fornace AJ Jr: Gadd45 a p53-responsive stress protein, modifies DNA accessibility on damaged chromatin. Moll. Cell. Biol., 1999; 19 (3): 1673-1685.
- Carrier F, Georgel PT, Pourquier P, Blake M, Kontny HU, Antinore MJ, Gariboldi M, Myers TG, Weinstein JN, Pommier Y, Fornace AJ Jr: Gadd45, a p53-responsive stress protein, modifies DNA accessibility on damaged chromatin. Mol Cell Biol, 1999; 19 (3): 1673-1685.
- Castiglioni A, Hettmer S, Lynes MD, Rao TN, Tchessalova D, Sinha I, Lee BT, Tseng YH, Wagers AJ: Isolation of progenitors that exhibit myogenic/osteogenic bipotency in vitro by fluorescence-activated cell sorting from human fetal muscle. Stem Cell Reports, 2014; 2 (1): 92-106. : http://dx.doi.org/10.1016/j.stemcr.2013.12.006
- Cesaro S, Peffault de Latour R, Tridello G, Pillon M, Carlson K, Fagioli F, Jouet JP, Koh MB, Panizzolo IS, Kyrcz-Krzemien S, Maertens J, Rambaldi A, Strahm B, Blaise D, Maschan A, Marsh J, Dufour C: Second allogeneic stem cell transplant for aplastic anaemia: a retrospective study by the Severe Aplastic Anaemia Working Party of the European Society for Blood and Marrow Transplantation. Brit J Haematol, 2015; 171 (4): 606-614. : http://dx.doi.org/10.1111/bjh.13650
- Chamova T, Bichev S, Todorov T, Gospodinova M, Taneva A, Kastreva K, Zlatareva D, Krupev M, Hadjiivanov R, Guergueltcheva V, Grozdanova L, Tzoneva D, Huebner A, V der Hagen M, Schoser B, Lochmuller H, Todorova A, Tournev I: Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation. Neuromuscular Disord, 2018; 28 (8): 625-632. : http://dx.doi.org/10.1016/j.nmd.2018.05.005
- Chang BD, Broude EV, Dokmanovic M, Zhu H, Ruth A, Xuan Y, Kandel ES, Lausch E, Christov K, Roninson IB: A senescence-like phenotype distinguishes tumor cells that undergo terminal proliferation arrest after exposure to anticancer agents. Cancer Res, 1999; 59 (15): 3761-3767.
- Chao MM, Ebell W, Bader P, Beier R, Burkhardt B, Feuchtinger T, Handgretinger R, Hanenberg H, Koehl U, Kratz C, Kremens B, Lang P, Meisel R, Mueller I, Roessig C, Sauer M, Schlegel PG, Schulz A, Strahm B, Thol F, Sykora KW: Consensus of German transplant centers on hematopoietic stem cell transplantation in Fanconi anemia. Klin Padiatr, 2015; 227 (3): 157-165. : http://dx.doi.org/10.1055/s-0035-1548841
- Chao MM, Illsinger S, Yoshimi A, Das AM, Kratz CP: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential. Klin Padiatr, 2017; 229 (6): 335-357. : http://dx.doi.org/10.1055/s-0043-120266
- Chao MM, Kontny U, Brink I, Göhring G, Schmitt-Gräff A, Rister M, Strahm B: Extramedullary relapse of therapy-related myelodysplastic syndrome after donor leukocyte infusion. Ann Hematol, 2008; 87 (2): 165-166.
- Chao MM, Thomay K, Goehring G, Wlodarski M, Pastor V, Schlegelberger B, Schindler D, Kratz CP, Niemeyer C: Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms. Klin Padiatr, 2017; 229 (6): 329-334. : http://dx.doi.org/10.1055/s-0043-117046
- Chao MM, Todd MA, Kontny U, Neas K, Sullivan MJ, Hunter AG, Picketts DJ, Kratz CP: T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6. Pediatr Blood Cancer, 2010; 55 (4): 722-724.
- Chen D, Roberts R, Pohl M, Nigam S, Kreidberg J, Wang Z, Heino J, Ivaska J, Coffa S, Harris RC, Pozzi A, Zent R: Differential expression of collagen- and laminin-binding integrins mediates ureteric bud and inner medullary collecting duct cell tubulogenesis. Am J Physiol-renal, 2004; 287 (4): F602-f611.
- Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Burgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ: Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes. Orphanet J Rare Dis, 2015; 10: 99-99. : http://dx.doi.org/10.1186/s13023-015-0321-y
- Chin H, Meyer C, Herr R, Janzarik WG, Lambert S, Jones DT, Jacob K, Benner A, Witt H, Remke M, Bender S, Falkenstein F, Van Anh TN, Olbrich H, von Deimling A, Pekrun A, Kulozik AE, Gnekow A, Scheurlen W, Witt O, Omran H, Jabado N, Collins VP, Brummer T, Marschalek R, Lichter P, Korshunov A, Pfister SM: Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrozytoma Acta Neuropathol, 2011; 121 (6): 763-74.
- Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ: Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A, 2008; 146 (23): 3038-3053. : http://dx.doi.org/10.1002/ajmg.a.32554
- Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S: Raine syndrome: a rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet A, 2007; 143 (24): 3280-3285.
- Chitnis T, Arnold DL, Banwell B, Bruck W, Ghezzi A, Giovannoni G, Greenberg B, Krupp L, Rostasy K, Tardieu M, Waubant E, Wolinsky JS, Bar-Or A, Stites T, Chen Y, Putzki N, Merschhemke M, Gartner J: Trial of Fingolimod versus Interferon Beta-1a in Pediatric Multiple Sclerosis. New Engl J Med, 2018; 379 (11): 1017-1027. : http://dx.doi.org/10.1056/NEJMoa1800149
- Cho TJ, Matsumoto K, Fano V, Dai J, Kim OH, Chae JH, Yoo WJ, Tanaka Y, Matsui Y, Takigami I, Monges S, Zabel B, Shimizu K, Nishimura G, Lausch E, Ikegawa S: TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Am J Med Genet A, 2012; 158 (4): 795-802. : http://dx.doi.org/10.1002/ajmg.a.35268
- Christiansen M, Ammann S, Speckmann C, Mogensen TH: XIAP deficiency and MEFV variants resulting in an autoinflammatory lymphoproliferative syndrome. BMJ Case Rep, 2016. : http://dx.doi.org/10.1136/bcr-2016-216922 (in Druck)
- Chronakis IS, Jakob A, Hagstrom B, Ye L: Encapsulation and selective recognition of molecularly imprinted theophylline and 17beta-estradiol nanoparticles within electrospun polymer nanofibers. Langmuir, 2006; 22 (21): 8960-8965. : http://dx.doi.org/10.1021/la0613880
- Cimbalistiene L, Kucinskas V, Klimiene R, Lehnert W: The fist case of propionic acidemia in Lithuania: Review of the literature and a short case report. Acta Medica Lithuanica, 2000; 7 Suppl. 2: 59-63.
- Cimbalistien L, Kuinskas V, Drazdien N, Lehnert W: Succinate semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): Review of the literature and a short case report. Laboratorin Medicina, 2001; 3: 47-50.
- Cipriani S, Phan V, Medard JJ, Horvath R, Lochmuller H, Chrast R, Roos A, Spendiff S: Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C. Int J Mol Sci, 2018; 19 (12): 4072. : http://dx.doi.org/10.3390/ijms19124072
- Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P, UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F: ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies Brain, 2013; 136 (1): 269-281.
- Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M: A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet, 2010; 42 (1): 27-29.
- Claviez A, Ngoumou B, Harder L, Baumann I, Niemeyer C: Marked thrombocytosis in a child with advanced myelodysplastic syndrome Leukemia Lymphoma, 2004; 45 (4): 849-850.
- Clemente MJ, Przychodzen B, Hirsch CM, Nagata Y, Bat T, Wlodarski MW, Radivoyevitch T, Makishima H, Maciejewski JP: Clonal PIGA mosaicism and dynamics in paroxysmal nocturnal hemoglobinuria. Leukemia, 2018; 32: 2507-2511. : http://dx.doi.org/10.1038/s41375-018-0138-5
- Clemente MJ, Wlodarski MW, Makishima H, Viny AD, Bretschneider I, Shaik M, Bejanyan N, Lichtin AE, His eD, Paquette RL, Loughran TP Jr, Maciejewski JP: Clonal drift demonstrates unexpected dynamics of the T-cell repertoire in T-large granular lymphocyte leukemia. Blood, 2011; 118 (16): 4384-4393.
- Coenen-Stass AML, Sork H, Gatto S, Godfrey C, Bhomra A, Krjutskov K, Hart JR, Westholm JO, O'Donovan L, Roos A, Lochmuller H, Puri PL, El Andaloussi S, Wood MJA, Roberts TC: Comprehensive RNA-Sequencing Analysis in Serum and Muscle Reveals Novel Small RNA Signatures with Biomarker Potential for DMD. Mol Ther-nucl Acids, 2018; 13: 1-15. : http://dx.doi.org/10.1016/j.omtn.2018.08.005
- Cogulu O, Gunduz C, Karaca E, Onay H, Superti-Furga A, Ozkinay F: Duane anomaly, meningomyelocele, dextroposition of heart and localized vertebrocostal alterations with associated anomalies in a girl. Genet Counsel, 2007; 18 (1): 77-83.
- Cornberg M, Protzer U, Petersen J, Wedemeyer H, Berg T, Jilg W, Erhardt A, Wirth S, Sarrazin C, Dollinger MM, Schirmacher P, Dathe K, Kopp IB, Zeuzem S, Gerlich WH, Manns MP: Prophylaxis, diagnosis and therapy of hepatitis B virus infection - the German guideline]. Z Gastroenterol, 2011; 49: 871-930. : http://dx.doi.org/10.1055/s-0031-1273462
- Cornberg M, Protzer U, Petersen J, Wedemeyer H, Berg T, Jilg W, Erhardt A, Wirth S, Sarrazin C, Dollinger MM, Schirmacher P, Dathe K, Kopp IB, Zeuzem S, Gerlich WH, Manns MP: [Prophylaxis, diagnosis and therapy of hepatitis B virus infection - the German guideline]. Z Gastroenterol, 2011; 49 (7): 871-930. : http://dx.doi.org/10.1055/s-0031-1273462
- Corydon MJ, Gregersen N, Lehnert W: Ethylmalonic Aciduria is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase. Pediatr. Res., 1996; 39: 1059-1066.
- Costa A, Gupta R, Signorino G, Malara A, Cardile F, Biondo C, Midiri A, Galbo R, Trieu-Cuot P, Papasergi S, Teti G, Henneke P, Mancuso G, Golenbock DT, Beninati C: Activation of the NLRP3 inflammasome by group B streptococci. J Immunol, 2012; 188 (4): 1953-1960. : http://dx.doi.org/10.4049/jimmunol.1102543
- Costa A, Gupta R, Signorino G, Malara A, Cardile F, Biondo C, Midiri A, Galbo R, Trieu-Cuot P, Papasergi S, Teti G, Henneke P, Mancuso G, Golenbock DT, Beninati C: Activation of the NLRP3 inflammasome by group B streptococci. J Immunol, 2012; 188 (4): 1953-1960. : http://dx.doi.org/10.4049/jimmunol.1102543
- Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ: Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: A large patient cohort study. J Allergy Clin Immun, 2017; 139 (2): 597-606.e4. : http://dx.doi.org/10.1016/j.jaci.2016.06.021
- Crazzolara R, Maurer K, Schulze H, Zieger B, Zustin J, Schulz AS: A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III. Pediatr Blood Cancer, 2015; 62 (9): 1677-1679. : http://dx.doi.org/10.1002/pbc.25537
- Cretien A, Proust A, Delaunay J, Rince P, Leblanc T, Ducrocq R, Simansour M, Marie I, Tamary H, Meerpohl J, Niemeyer CM, Gazda H, Sieff C, Ball S, Tchernia G, Mohandas N, Da Costa L: Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. Am J Hematol, 2010; 85 (2): 111-116.
- Crétien A, Proust A, Delaunay J, Rincé P, Leblanc T, Ducrocq R, Marie I, Tamary H, Meerpohl J, Niemeyer CM, Gazda H, Ball S, Mohandas N, Tchernia G, da Costa L: Genetic variants in the non-coding region of RPS19 gene, in Diamond-Blackfan anemia: potential implications for phenotype heterogeneity. Am J Hematol, 2009; 85 (2): 111-116.
- Creutzig, U., Körholz, D., Niemeyer, C.M., Kabisch, H., Graf, N., Reiter, A., Scheel-Walter, H., Bender-Götze, C., Behnisch, W., Hermann, J., Mann, G., Ritter, J., Zimmermann, M.: Toxicity and effectivity of high-dose Idarubicin during AML induction therapy: Results of a pilot study in children. Klin Padiatr, 2000; 212: 163-168.
- Creutzig U, Bender-Götze C, Ritter J, Zimmermann M, Graf N, Schott G, Lampert F, Niemeyer C: The role of intensive AML-specific therapy in treatment of children with RAEB and REAB-t Leukemia, 1998; 12: 652-659.
- Creutzig U, Berthold F, Boos J, Fleischhack G, Gadner H, Gnekow A, Graubner U, Henze G, Hermann J, Imbach P, Jurgens H, Kabisch H, Korholz D, Niemeyer CM, Reinhardt D, Reiter A, Ritter J, Spaar HJ, Zimmermann M.: [Improved treatment results in children with AML: Results of study AML-BFM 93] Klin Padiatr, 2001; 213: 175-185.
- Creutzig U, Berthold F, Boos J, Fleischhack G, Gadner H, Gnekow A, Graubner U, Henze G, Hermann J, Imbach P, Jurgens H, Kabisch H, Korholz D, Niemeyer CM, Reinhardt D, Reiter A, Ritter J, Spaar HJ, Zimmermann M: [Improved treatment results in children with AML: Results of study AML-BFM 93]. Klin Padiatr, 2001; 213 (4): 175-185. : http://dx.doi.org/10.1055/s-2001-16849
- Creutzig U, Korholz D, Niemeyer CM, Kabisch H, Graf N, Reiter A, Scheel-Walter H, Bender-Gotze C, Behnisch W, Hermann J, Mann G, Ritter J, Zimmermann M: Toxicity and effectiveness of high-dose idarubicin during AML induction therapy: results of a pilot study in children. Klin Padiatr, 2000; 212 (4): 163-168. : http://dx.doi.org/10.1055/s-2000-9671
- Creutzig U, Korholz D, Niemeyer CM, Kabisch K, Graf N, Reiter A, Scheel-Walter H, Bender-Gotze C, Behnisch W, Hermann J, Mann G, Ritter J, Zimmermann M: 3 x 14 mg/m2 idarubicin during induction: results of a pilot study in children with AML. Leukemia, 2000; 14 (2): 340-342.
- Creutzig U, Körholz D, Niemeyer C, Kabisch K, Graf N, Reiter A, Scheel-Walter H, Bernder-Götze Ch, Behnisch W, Hermann J, Mann G, Ritter J, Zimmermann M: 3x14 mg/m2 idarubicin during induction. Results of a pilot study in children with AML Leukemia, 2000; 14: 340-342.
- Creutzig U, Ritter J, Ludwig D, Niemeyer C, Reinisch, I, Stollmann-Gibbels B, Zimmermann M, Harbott J: Akute Myeloische Leukämie bei Kindern mit Down-Syndrom. Klin Pädiatr, 1995; 207: 1-10..
- Creutzig U, Ritter J, Vormoor J, Ludwig WD, Niemeyer C, Reinisch I, Stollmann-Gibbels B, Zimmermann M, Harbott J: Myelodysplasia and acute myelogenous leukemia in Down's syndrome. A report of 40 children of AML-BFN study group. Leukemia, 1996; 10: 1677-1686.
- Creutzig U, Ritter J, Zimmermann M, Hermann J, Gadner H, Sawatzki DB, Niemeyer CM, Schwabe D, Selle B, Boos J, Kuhl J, Feldges A.: Idarubicin improves blast cell clearance during induction therapy in children with AML: results of study AML-BFM 93. AML-BFM Study Group. Leukemia, 2001; 15: 348-354.
- Creutzig U, Ritter J, Zimmermann M, Hermann J, Gadner H, Sawatzki DB, Niemeyer CM, Schwabe D, Selle B, Boos J, Kuhl J, Feldges A: Idarubicin improves blast cell clearance during induction therapy in children with AML: results of study AML-BFM 93. AML-BFM Study Group. Leukemia, 2001; 15 (3): 348-354.
- Creutzig U, Zimmermann M, Lehrnbecher T, Graf N, Hermann J, Niemeyer CM, Reiter A, Ritter J, Dworzak M, Stary J, Reinhardt D: Less toxicity by optimizing chemotherapy, but not by addition of granulocyte colony-stimulating factor in children and adolescents with acute myeloid leukemia: results of AML-BFM 98. J Clin Oncol, 2006; 24 (27): 4499-4506. : http://dx.doi.org/10.1200/JCO.2006.06.5037
- Crow RA, Hart KA, McDermott MP, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Hirtz D, Lochmuller H, Straub V, Ciafaloni E, Shieh PB, Spinty S, Childs AM, Manzur AY, Morandi L, Butterfield RJ, Horrocks I, Roper H, Flanigan KM, Kuntz NL, Mah JK, Morrison L, Darras BT, von der Hagen M, Schara U, Wilichowski E, Mongini T, McDonald CM, Vita G, Barohn RJ, Finkel RS, Wicklund M, McMillan HJ Jr, Hughes I, Pegoraro E, Bryan Burnette W, Howard JF, Thangarajh M, Campbell C, Griggs RC, Bushby K, Guglieri M: A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial. Trials, 2018; 19 (1): 291-291. : http://dx.doi.org/10.1186/s13063-018-2645-0
- Crow YJ et al, Tacke U: Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutiéres syndrome and mimic congenital viral brain infection Nat Genet, 2006; 38 (8): 910-916.
- Cseh A, Niemeyer CM, Yoshimi A, Dworzak M, Hasle H, van den Heuvel-Eibrink MM, Locatelli F, Masetti R, Schmugge M, Groß-Wieltsch U, Canadás A, Kulozik AE, Olcay L, Suttorp M, Furlan I, Strahm B, Flotho C: Bridging to transplant with azacitidine in juvenile myelomonocytic leukemia: a retrospective analysis of the EWOG-MDS study group. Blood, 2015; 125 (14): 2311-2313. : http://dx.doi.org/10.1182/blood-2015-01-619734
- Cseh AM, Niemeyer CM, Yoshimi A, Catala A, Fruhwald MC, Hasle H, van den Heuvel-Eibrink MM, Lauten M, De Moerloose B, Smith OP, Bernig T, Gruhn B, Kulozik AE, Metzler M, Olcay L, Suttorp M, Furlan I, Strahm B, Flotho C: Therapy with low-dose azacitidine for MDS in children and young adults: a retrospective analysis of the EWOG-MDS study group. Brit J Haematol, 2016; 172: 930-936. : http://dx.doi.org/10.1111/bjh.13915
- Cuffe JE, Bielfeld-Ackermann A, Thomas J, Leipziger J, korbmacher C: ATP stimulates apical CI secretion and reduces amiloride-sensitive Na+ absorption in M-1 mouse cortical collecting duct cells J Physiol-london, 2000; 524 Pt 1: 77-90.
- Cybulla M, Walter K, Neumann HP, Widmer U, Schärer M, Sunder-Plassmann G, Jansen T, Rolfs A, Beck M: Fabry disease: demographic data since introduction of enzyme replacement therapy Deut Med Wochenschr, 2007; 132 (28): 1505-1509.
- Cybulla M,, Kleber M,, Walter KN,, Kroeber SM,, Neumann HP,, Engelhardt M: Is Fabry disease associated with leukaemia? Brit J Haematol, 2006; 135 (2): 264-265.
- Cybulla M,, Walter KN,, Schwarting A, Divito R, Feriozzi S, Sunder-Plassmann G; European FOS Investigators Group: Kidney transplantation in patients with Fabry disease. Transpl Int, 2009; 22 (4): 475-481.
- D'Souza SS, Gururaj AE, Raj HM, Rössler J, Salimath BP: Inhibition of ascites tumor growth in vivo by sTie-2 is potentiated by a combinatorial therapy with sFLT-1. J Gene Med, 2010; 12 (12): 968-980.
- D'Souza SS, Scherzinger-Laude K, Simon M, Salimath BP, Rossler J: Angiopoietin-2 inhibition using siRNA or the peptide antagonist L1-10 results in antitumor activity in human neuroblastoma. J Cancer Res Clin, 2012; 138 (12): 2017-2026. : http://dx.doi.org/10.1007/s00432-012-1282-3
- Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW: Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience. Eur J Med Genet, 2018; 61 (11): 664-673. : http://dx.doi.org/10.1016/j.ejmg.2017.10.017
- Da Costa L, Tchernia G, Gascard P, Lo A, Meerpohl J, Niemeyer C, Chasis JA, Fixler J, Mohandas N: Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in two Diamond Blackfan Anemia patients: Potential insights into pathophysiology Blood, 2003; 101 (12): 5039-12.
- da Cruz E, Lechner E, Stiller B, Munoz R, Beghetti M, Fakler U, Haas N: Recommendations from the Association for European Paediatric Cardiology for training in paediatric cardiac intensive care. Cardiol Young, 2011; 21 (4): 480-484. : http://dx.doi.org/10.1017/S1047951111000655
- Dahan K, Fuchshuber A, Adamis S, Smaers M, Kroiss S, Loute G, Cosyns J-P, Hildebrandt F, Verellen-Dumoulin C, Pirson Y: Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: strong evidence for allelism. J Am Soc Nephrol, 2001; 12: 2348-2357.
- Dai J, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S: TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet, 2010; 55 (7): 400-402. : http://dx.doi.org/10.1038/jhg.2010.37
- Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S: Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet, 2010; 47 (10): 704-709. : http://dx.doi.org/10.1136/jmg.2009.075358
- Dai J,, Cho TJ, Unger S, Lausch E, Nishimura G, Kim OH, Superti-Furga A, Ikegawa S.: TRPV4-pathy, a novel channelopathy affecting diverse systems. J Hum Genet, 2010; 55 (7): 400-402.
- Dai J,, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.: Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. J Med Genet, 2010; 47 (10): 704-709.
- Dallacasagrande V, Zink M, Huth S, Jakob A, Muller M, Reichenbach A, Kas JA, Mayr SG: Tailoring substrates for long-term organotypic culture of adult neuronal tissue. Adv Mater, 2012; 24 (18): 2399-2403. : http://dx.doi.org/10.1002/adma.201200816
- Dan B, Motta F, Vles JHS, Vloeberghs M, Becher JG, Eunson P, Gautheron V, Lütjen S, Mall V, Pascual-Pascual SI, Pauwels P, Røste GK: Consensus on the appropriate use of intrathecal baclofen (ITB) therapy in paediatric spasticity Eur J Paediatr Neuro, 2010; 14 (1): 19-28.
- Dannemann A, van Ree R, Kulig M, Bergmann RL, Bauer P, Forster J, Guggenmoos-Holzmann I, Aalberse RC, Wahn U: Specific IgE and IgG4 immune responses to tetaus and diphtheria toxoid in atopic and nonatopic children during the first two years of life. Int. Arch. Allergy Imm., 1996; 111: 262-267.
- Dantonello TM, Int-Veen C, Schuck A, Seitz G, Leuschner I, Nathrath M, Schlegel PG, Kontny U, Behnisch W, Veit-Friedrich I, Kube S, Hallmen E, Kazanowska B, Ladenstein R, Paulussen M, Ljungman G, Bielack SS, Klingebiel T, Koscielniak E: Survival following disease recurrence of primary localized alveolar rhabdomyosarcoma. Pediatr Blood Cancer, 2013; 60 (8): 1267-1273. : http://dx.doi.org/10.1002/pbc.24488
- Das BK, Verma SK, Das T, Panda PK, Parashar K, Suar M, Parashar SKS: Altered electrical properties with controlled copper doping in ZnO nanoparticles infers their cytotoxicity in macrophages by ROS induction and apoptosis. Chem-biol Interact, 2019; 297: 141-154. : http://dx.doi.org/10.1016/j.cbi.2018.11.004
- Das Neugeborene mit, zyanotischem Herzfehler.: Acute renal failure due to mechanical haemolysis after percutaneous catheter occlusion of a patent arterial duct. Int J Cardiol, 1998. (in Druck)
- Dati F, Baudner S, Metzmann E, Toth T, Tuengler P, Jakob A: Early detection of microalbuminuria by four different immunochemical methods. Contrib Nephrol, 1988; 68: 166-171.
- Dechant MJ, van der Werf-Grohmann N, Neumann E, Spiekerkoetter U, Stiller B, Grohmann J: Thyroidal response following iodine excess for cardiac catheterisation and intervention in early infancy. Int J Cardiol, 2016; 223: 1014-1018. : http://dx.doi.org/10.1016/j.ijcard.2016.08.292
- Dechant MJ, van der Werf-Grohmann N, Neumann E, Spiekerkoetter U, Stiller B, Grohmann J: Thyroidal response following iodine excess for cardiac catheterisation and intervention in early infancy. Int J Cardiol, 2016; 223: 1014-1018. : http://dx.doi.org/10.1016/j.ijcard.2016.08.292
- Deetjen P, Thomas J, Lehrmann H, Kim SJ, Leipziger J, (Deetjen P an Thomas J contributed equally to this work): The luminal P2Y receptor in the isolated perfused mouse cortical collecting duct. J Am Soc Nephrol, 2000; 11: 1798-1806.
- Deichmann K, Bardutzky J, Forster J, Heinzmann A, Kühr J: Common polymorphismus in the coding of the IL4-receptor gene. Biochem Biophys Res Communications, 1997; 231: 696-697.
- Deichmann K, Heinzmann A, Brüggenolte E, Forster J, Kühr J: An Mse I RFLP in the Human CTLA4 Promotor. Biochem. Bioph. Res. Comm., 1996; 225: 817-818.
- Deichmann K.A., Heinzmann A., Kruse S., Forster J., Kuehr J.: Association studies on beta2-adrenoceptor polymorphisms and enhanced IgE responsiveness in an atopic population. Clin. Allergy, 1999; 29: 794-799.
- Deichmann K.A., Schmidt A., Heinzmann A., Kruse S., Forster J., Kuehr J.: Association studies on ß2-adrenoceptor polymorphisms and enhanced IgE responsiveness in an atopic population. Clinical and Experimental Allergy, 1999; 29(6): 794-799.
- Deichmann K.A., Starke B., Schlenther S., Heinzmann A., Sparholt S.H., Forster J. and Kuehr J.: Linkage and association studies of atopy and the chromosome 11q13 region. Journal of Medical Genetics, 1999; 36(5): 379-382.
- Deichmann KA, Henizmann A, Forster J, Dischinger S, Mehl CH, Brueggenolte E, Hildebrandt F, Moseler M, Kuehr J: Linkage and allelic association of atopy and markers flanking the IL4-receptor gene. Clin Exp Allerg, 1998; 28: 151-155.
- Deichmann KA, Hildebrandt F, Heinzmann A, Schlenther S, Forster J, Kuehr J: Absence of mutations in the 6th exon of Fc epsilon RI-beta Adv Exp Med Biol, 1996; 409: 355-588.
- Deindl P, Peri-Jerkan S, Deichmann K, Niggemann B, Lau S, Sommerfeld C, Sengler C, Muller S, Wahn U, Nickel R, Heinzmann A;, German Multicenter Atopy Study Group: No association of histamine- N-methyltransferase polymorphism with asthma or bronchial hyperresponsiveness in two German pediatric populations. Pediatr Allergy Immu, 2005; 16 (1): 40-42.
- de Jong MD, Reusken C, Horby P, Koopmans M, Bonten M, Chiche JD, Giaquinto C, Welte T, Leus F, Schotsman J, Goossens H, (Dr. Markus Hufnagel ist aktives Mitglied des PREPARE consortium): Preparedness for admission of patients with suspected Ebola virus disease in European hospitals: a survey, August-September 2014. Eurosurveillance, 2014; 19 (48): pii=20980. : http://www.eurosurveillance.org/ViewArticle.aspx?ArticleId=20980
- de la Morena MT, Leonard D, Torgerson TR, Cabral-Marques O, Slatter M, Aghamohammadi A, Chandra S, Murguia-Favela L, Bonilla FA, Kanariou M, Damrongwatanasuk R, Kuo CY, Dvorak CC, Meyts I, Chen K, Kobrynski L, Kapoor N, Richter D, DiGiovanni D, Dhalla F, Farmaki E, Speckmann C, Espanol T, Shcherbina A, Hanson IC, Litzman J, Routes JM, Wong M, Fuleihan R, Seneviratne SL, Small TN, Janda A, Bezrodnik L, Seger R, Raccio AG, Edgar JD, Chou J, Abbott JK, van Montfrans J, Gonzalez-Granado LI, Bunin N, Kutukculer N, Gray P, Seminario G, Pasic S, Aquino V, Wysocki C, Abolhassani H, Dorsey M, Cunningham-Rundles C, Knutsen AP, Sleasman J, Costa Carvalho BT, Condino-Neto A, Grunebaum E, Chapel H, Ochs HD, Filipovich A, Cowan M, Gennery A, Cant A, Notarangelo LD, Roifman CM: Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immun, 2017; 139 (4): 1282-1292. : http://dx.doi.org/10.1016/j.jaci.2016.07.039
- Delhalle S, Bode SFN, Balling R, Ollert M, He FQ: A roadmap towards personalized immunology. NPJ Syst Biol Appl, 2018; 4 (online): 9-9. : http://dx.doi.org/10.1038/s41540-017-0045-9
- Delmo Walter EM, Alexi-Meskishvili V, Huebler M, Loforte A, Stiller B, Weng Y, Berger F, Hetzer R: Extracorporeal membrane oxygenation for intraoperative cardiac support in children with congenital heart disease. Interact Cardiovasc Thorac Surg, 2010; 10 (5): 753-758. : http://dx.doi.org/10.1510/icvts.2009.220475
- Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB: Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency. Mol Genet Metab, 2013; 108 (4): 263-266. : http://dx.doi.org/10.1016/j.ymgme.2013.01.011
- Delvendahl I, Jung N, Mainberger F, Kuhnke N, Cronjaeger M, Mall V: Occlusion of bidirectional plasticity by preceding low-frequency stimulation in the human motor cortex. Clin Neurophysiol, 2010; 121 (4): 594-602. : http://dx.doi.org/10.1016/j.clinph.2009.09.034
- Delvendahl I, Jung NH, Kuhnke NG, Ziemann U, Mall V: Plasticity of motor threshold and motor-evoked potential amplitude - A model of intrinsic and synaptic plasticity in human motor cortex ? Brain Stimul, 2012; 5 (4): 586-593.
- Delvendahl I, Kuhnke NG, Jung NH, Mainberger F, Cronjaeger M, Unterrainer J, Hauschke D, Mall V: The time course of motor cortex plasticity after spaced motor practice. Brain Stimul, 2011; 4 (3): 156-164.
- Delvendahl I, Lindemann H, Heidegger T, Normann C, Ziemann U, Mall V: Effects of lamotrigine on human motor cortex plasticity. Clin Neurophysiol, 2013; 124 (1): 148-153. : http://dx.doi.org/10.1016/j.clinph.2012.05.011
- Demmerath EM, Bohler S, Kunze M, Erlacher M: In vitro and in vivo evaluation of possible pro-survival activities of PGE2, EGF, TPO and FLT3L on human hematopoiesis. Haematologica, 2018. : http://dx.doi.org/10.3324/haematol.2018.191569 (in Druck)
- Demmerath EM, Bohler S, Kunze M, Erlacher M: In vitro and in vivo evaluation of possible pro-survival activities of PGE2, EGF, TPO and FLT3L on human hematopoiesis. Haematologica, 2019; 104 (4): 669-677. : http://dx.doi.org/10.3324/haematol.2018.191569
- Denschlag D, Ackermann S, Battista MJ, Cremer W, Egerer G, Follmann M, Haas H, Harter P, Hettmer S, Horn LC, Juhasz-Boess I, Kast K, Kohler G, Kroncke T, Lindel K, Mallmann P, Meyer-Steinacker R, Mustea A, Petru E, Reichardt P, Schmidt D, Strauss HG, Tempfer C, Thiel F, Ulrich U, Vogl T, Vordermark D, Gass P, Beckmann MW: Sarcoma of the Uterus. Guideline of the DGGG and OEGGG (S2k Level, AWMF Register Number 015/074, February 2019). Geburtsh Frauenheilk, 2019; 79 (10): 1043-1060. : http://dx.doi.org/10.1055/a-0882-4116
- Denzer C, Karges B, Näke A, Rosenbauer J, Schober E, Schwab KO, Holl RW, DPV Initiative, the BMBF-Competence Network Diabetes Mellitus: Subclinical hypothyroidism and dyslipidemia in children and adolescents with type 1 diabetes mellitus. Eur J Endocrinol, 2013; 168 (4): 601-608. : http://doi: 10.1530/EJE-12-0703
- Dereven'kova IA, Hannibal L, Dürr M, Salnikov DS, Bui Thi TT, Makarov SV, Koifman OI, Ivanović-Burmazović I: Redox turnover of organometallic B12 cofactors recycles vitamin C: Sulfur assisted reduction of dehydroascorbic acid by cob(II)alamin J Organomet Chem, 2017; 839: 53-59. : https://doi.org/10.1016/j.jorganchem.2017.01.002
- Dereven'kov IA, Hannibal L, Makarov SV, Makarova AS, Molodtsov PA, Koifman OI: Characterization of the complex between native and reduced bovine serum albumin with aquacobalamin and evidence of dual tetrapyrrole binding. J Biol Inorg Chem, 2018; 23 (5): 725-738. : http://dx.doi.org/10.1007/s00775-018-1562-8
- De Rocco D, Zieger B, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A: MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet, 2013; 56 (1): 7-12. : http://dx.doi.org/10.1016/j.ejmg.2012.10.009
- De Rocco D,, Zieger B,, Platokouki H, Heller PG, Pastore A, Bottega R, Noris P, Barozzi S, Glembotsky AC, Pergantou H, Balduini CL, Savoia A, Pecci A: MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations Eur J Med Genet, 2013; 56: 7-12.
- Dersch R, Anastasopoulos C, Hader C, Stich O: Vertebral artery dissection associated with sildenafil abuse J Clin Neurosci, 2013; 20 (5): 742.
- Deshmukh SD, Kremer B, Freudenberg M, Bauer S, Golenbock DT, Henneke P: Macrophages recognize streptococci through bacterial single-stranded RNA. Embo Rep, 2011; 12 (1): 71-76. : http://dx.doi.org/10.1038/embor.2010.189
- Deshmukh SD, Kremer B, Freudenberg M, Bauer S, Golenbock DT, Henneke P: Macrophages recognize streptococci through bacterial single-stranded RNA. Embo Rep, 2011; 12 (1): 71-76. : http://dx.doi.org/10.1038/embor.2010.189
- Deshmukh SD, Muller S, Hese K, Rauch KS, Wennekamp J, Takeuchi O, Akira S, Golenbock DT, Henneke P: NO is a macrophage autonomous modifier of the cytokine response to streptococcal single-stranded RNA. J Immunol, 2012; 188 (2): 774-780. : http://dx.doi.org/10.4049/jimmunol.1101383
- Deshmukh SD, Müller S, Hese K, Rauch KS, Wennekamp J, Takeuchi O, Akira S, Golenbock DT, Henneke P: NO Is a Macrophage Autonomous Modifier of the Cytokine Response to Streptococcal Single-Stranded RNA. J Immunol, 2012; 188 (2): 774-780. : http://dx.doi.org/10.4049/jimmunol.1101383
- Despres S, Engel MW, Zabel B: [Skeletal dysplasias. The network SKELNET] Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz, 2007; 50 (12): 1548-1555.
- Després S, Engel MW, Zabel B: Skeletal dysplasias. The network SKELNET. Bungesgesundheitsblatt: Gesundheitsforschung, Gesundheitsschutz, 2007; 50 (12): 1548-1555.
- Deters M, Koch I, Ganzert M, Hermanns-Clausen M, Sturer A, Hahn A, Meyer H, Szibor R, Ebbecke M, Heppner HJ, Hruby K, Reinecke HJ, Scheer M, Seidel C, Hentschel H: [Carbon monoxide poisoning from indoor barbecues-incidents reported to the German-speaking Poison Information Centers and the German Federal Institute for Risk Assessment (BfR) in Berlin]. Arch Kriminol, 2011; 227 (3-4): 102-110.
- Deters M, Koch I, Ganzert M, Hermanns-Clausen M, Sturer A, Hahn A, Meyer H, Szibor R, Ebbecke M, Heppner HJ, Hruby K, Reinecke HJ, Scheer M, Seidel C, Hentschel H: [Carbon monoxide poisoning from indoor barbecues-incidents reported to the German-speaking Poison Information Centers and the German Federal Institute for Risk Assessment (BfR) in Berlin]. Arch Kriminol, 2011; 227 (3-4): 102-110.
- Dettmer V, Bloom K, Gross M, Weissert K, Aichele P, Ehl S, Cathomen T: Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro. Hum Gene Ther, 2019; 30 (8): 975-984. : http://dx.doi.org/10.1089/hum.2019.025
- Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MC, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, van der Goot FG: Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. Embo Mol Med, 2011; 3 (4): 208-221. : http://dx.doi.org/10.1002/emmm.201100124
- Deuquet J, Lausch E, Guex N, Abrami L, Salvi S, Lakkaraju A, Ramirez MC, Martignetti JA, Rokicki D, Bonafe L, Superti-Furga A, van der Goot FG: Hyaline fibromatosis syndrome inducing mutations in the ectodomain of anthrax toxin receptor 2 can be rescued by proteasome inhibitors. Embo Mol Med, 2011; 3 (4): 208-221. : http://dx.doi.org/10.1002/emmm.201100124
- Deuschl G, Heinen F, Guschlbauer B, Schneider S, Glocker FX, Lücking CH: Hand tremor in patients with spasmodic torticollis. Movement Disorders, 1997; 12: 547-552.
- de Vries AC, Bredius RG, Lankester AC, Bierings M, Trebo M, Sedlacek P, Niemeyer CM, Zecca M, Locatelli F, van den Heuvel-Eibrink MM: HLA-identical umbilical cord blood transplantation from a sibling donor in juvenile myelomonocytic leukemia. Haematologica, 2009; 94 (2): 302-304. : http://dx.doi.org/10.3324/haematol.2008.000216
- de Vries AC, Langerak AW, Verhaaf B, Niemeyer CM, Stary J, Schmiegelow K, van Wering ER, Zwaan CM, Beishuizen A, Pieters R, van den Heuvel-Eibrink MM: T-cell receptor Vbeta CDR3 oligoclonality frequently occurs in childhood refractory cytopenia (MDS-RC) and severe aplastic anemia. Leukemia, 2008; 22 (6): 1170-1174. : http://dx.doi.org/10.1038/leu.2008.23
- de Vries AC, Stam RW, Kratz CP, Zenker M, Niemeyer CM, van den Heuvel-Eibrink MM: Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia. Haematologica, 2007; 92 (11): 1574-1575. : http://dx.doi.org/10.3324/haematol.11493
- de Vries AC, Stam RW, Schneider P, Niemeyer CM, van Wering ER, Haas OA, Kratz CP, den Boer ML, Pieters R, van den Heuvel-Eibrink MM: Role of mutation independent constitutive activation of FTL3 in juvenile myelomonocytic leukemia. Haematol-hematol J, 2007; 92 (11): 1557-1560.
- de Vries ACH, Langerak AW, Verhaaf B, Niemeyer CM, Stary J, Schmiegelow K, van Wering E, Zwaan CM, Beishuizen A, Pieters R, van den Heuvel-Eibrink MM: T-cell receptor Vβ CDR3 oligoclonality frequently occurs in childhood refractory cytopenia (MDS-RC) and severe aplastic anemia. Leukemia, 2008; 22 (6): 1170-1174. : http://dx.doi.org/10.1038/leu.2008.23
- de Vries ACH, Stam RW, Kratz CP, Zenker M, Niemeyer CM, van den Heuvel-Eibrink MM, on behalf of the European Working Group on MDS in Childhood (EWOG-MDS): Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia. Haematol-hematol J, 2007; 92 (11): 1574-1575.
- Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, TalEidelitz M, Shalev H, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Fibach E, Ben-Asher E, Olender T, Koren A, Rössler J, Yaniv I, Zaizov R, Lancet D, Beckmann JS, Tamary H: Congenital Dyserythropoietic Anemia type I is caused by mutations in codanin-1
Am. J. Hum. Genet., 71(6):1467-74 (2002). Am J Hum Genet, 2002; 71 Suppl. 6: 1467-1474.
- Diener W: Brom als Antiepileptikum. Epilepsieblätter, 1994; 7: 47-52.
- Diepold M, Noellke P, Duffner U, Kontny U, Berner R: Performance of Interleukin-6 and Interleukin-8 serum levels in pediatric oncology patients with neutropenia and fever for the assessment of low-risk. Bmc Infect Dis, 2008; 8 (online). : http://dx.doi.org/10.1186/1471-2334-8-28
- Diepold M, Noellke P, Duffner U, Kontny U, Berner R: Performance of Interleukin-6 and Interleukin-8 serum levels in pediatric oncology patients with neutropenia and fever for the assessment of low-risk. Bmc Infect Dis, 2008; 8 (online): 28.
- Dieudonne G, Knerr I, Hofer SE, Faller U, Schwab KO, Dunstheimer D, Grulich-Henn J, Beyer P, Marg W, Näke A, Holl RW: Was hat sich in der Betreuung pädiatrischer Patienten mit Typ 1-Diabetes in den letzten 12 Jahren verändert? Analyse von 34.465 Patienten aus 188 pädiatrischen Diabeteszentren in Deutschland und Österreich. Pädiatrix, 2008. (in Druck)
- Dieudonne G,, Knerr I, Hofer SE, Faller U, Schwab KO, Dunstheimer D, Grulich-Henn J, Beyer P, Marg W, Näke A, Holl RW: Was hat sich in der Betreuung pädiatrischer Patienten mit Typ 1-Diabetes in den letzten 12 Jahren verändert? Analyse von 34.465 Patienten aus 188 pädiatrischen Diabeteszentren in Deutschland und Österreich. PÄD praktische Pädiatrie, 2009; 15 (3): 141-144.
- Dilloo D, Niemeyer C, Suttorp M, Vormoor J: Duration of storage of autologous hematopoietic stem cell products for children and adolescents with malignant diseases Klinische Pädiatrie, 2005; 217 (6): 371-373.
- di Mola FF, Friess H, Zhu ZW, Koliopanos A, Bley T, di Sebastiano P, Innocenti P, Zimmermann A, Buchler MW: Nerve growth factor an Trk high affinity receptor (TrkA) gene expression in inflammatory bowel disease. Gut, 2000; 46 (5): 670-679.
- Dinter J, Muhlhaus J, Jacobi SF, Wienchol CL, Coster M, Meister J, Hoefig CS, Muller A, Kohrle J, Gruters A, Krude H, Mittag J, Schoneberg T, Kleinau G, Biebermann H: 3-iodothyronamine differentially modulates alpha-2A-adrenergic receptor-mediated signaling. J Mol Endocrinol, 2015; 54 (3): 205-216. : http://dx.doi.org/10.1530/JME-15-0003
- Dittrich H, Buhrer C, Grimmer I, Dittrich S, Abdul-Khaliq H, Lange PE: Neurodevelopment at 1 year of age in infants with congenital heart disease. Heart, 2003; 89 (4): 436-441.
- Dittrich S: Invited commentary on the article "Modulation of calcium transport improves myocardial contractility and enzyme profiles after prolonged ischemia-reperfusion" Ann Thorac Surg, 2003; 76 (6): 2061-2061.
- Dittrich S, Aktuerk D, Seitz S, Mehwald P, Schulte-Monting J, Schlensak C, Kececioglu D: Effects of ultrafiltration and peritoneal dialysis on proinflammatory cytokines during cardiopulmonary bypass surgery in newborns and infants. Eur J Cardio-thorac, 2004; 25 (6): 935-940.
- Dittrich S, Germanakis J, Dahnert I, Stiller B, Dittrich H, Vogel M, Lange PE: Randomised trial on the influence of continuous magnesium infusion on arrhythmias following cardiopulmonary bypass surgery for congenital heart disease. Intens Care Med, 2003; 29 (7): 1141-1144.
- Dittrich S, Germanakis J, Dittrich H, Daehnert I, Ewert P, Alexi-Meskishvili V, Vogel M, Lange PE: Comparison of sodium nitroprusside versus esmolol for the treatment of hypertension following repair of coarctation of the aorta Interactive Cardiovasc Thorac Surg, 2003; 2 (2): 111-115.
- Dittrich S, Gloeckler M, Arnold R, Sarai K, Siepe M, Beyersdorf F, Schlensak C: Hybrid pulmonary valve implantation: injection of a self-expanding tissue valve through the main pulmonary artery. Ann Thorac Surg, 2008; 85 (2): 632-634. : http://dx.doi.org/10.1016/j.athoracsur.2007.08.010
- Dittrich S, Graf E, Trollmann R, Neudorf U, Schara U, Heilmann A, von der Hagen M, Stiller B, Kirschner J, Pozza RD, Muller-Felber W, Weiss K, von Au K, Khalil M, Motz R, Korenke C, Lange M, Wilichowski E, Pattathu J, Ebinger F, Wiechmann N, Schroder R: Effect and safety of treatment with ACE-inhibitor Enalapril and beta-blocker metoprolol on the onset of left ventricular dysfunction in Duchenne muscular dystrophy - a randomized, double-blind, placebo-controlled trial. Orphanet J Rare Dis, 2019; 14 (1): 105-105. : http://dx.doi.org/10.1186/s13023-019-1066-9
- Dittrich S, Grohmann J, Grollmus O, Johansson S, Mehwald P, Kececioglu D: Multifokale Lungendurchblutung bei Pulmonalatresie mit Ventrikelseptumdefekt Zeitschrift Herz-, Thorax- und Gefäßchirurgie, 2001; 15 (4): 170-173.
- Dittrich S, Grollmuss O, Kruger M, Hentschel R, Mehwald P, Schlensak C, Kececioglu D: Early-onset Pneumocystis carinii pneumonia complicating Norwood II operation in a 3-month-old patient. Intens Care Med, 2002; 28 (11): 1685-1686.
- Dittrich S, Groneberg DA, Von Loeper J, Lippek F, Hegemann O, Grosse-Siestrup C, Lange PE: Influence of cold storage on renal ischemia reperfusion injury after non-heart-beating donor explantation. Nephron Exp Nephrol, 2004; 96 (3): E97-E102.
- Dittrich S, Kurschat K, Lange PE: Abnormal rheology in cyanotic congenital heart disease Scand J Urol Nephrol, 2001; 35 (5): 411-415.
- Dittrich S, Lippek F, Gratopp A, Grosse-Siestrup C, Lange PE, Buhrer C: Intravascular granulocyte aggregates caused by the selectin-binding carbohydrate fucoidin in pig kidneys. Clin Exp Pharmacol P, 2002; 29 (10): 909-914.
- Dittrich S, Priesemann M, Fischer T, Boettcher W, Muller C, Alexi-Meskishvili V, Lange PE: Circulatory arrest and renal function in open-heart surgery on infants. Pediatr Cardiol, 2002; 23 (1): 15-19.
- Dittrich S, Priesemann M, Fischer T, Boettcher W, Muller C, Dahnert I, Ewert P, Alexi-Meskishvili V, Hetzer R, Lange PE: Hemorheology and renal function during cardiopulmonary bypass in infants. Cardiol Young, 2001; 11 (5): 491-497.
- Doell C, Wulff B, Rössler J, Scharper J, Havers W: Primary B-cell Non - Hodgkin's Lymphoma of Bone in children. Eur J Pediatr, 2001; 160: 239-242.
- DOEPPER T, JAKOB A: [Urinary retention in irradiated female genital carcinoma (frequency and proposals for therapy)]. Strahlentherapie, 1959; 109: 289-294.
- Doll C, Wulff B, Rossler J, Schaper J, Havers W: Primary B-cell lymphoma of bone in children. Eur J Pediatr, 2001; 160 (4): 239-242.
- Dolman KM, Revesz T, Niemeyer CM, van Wering ER, de Saint Basile G, Canninga M, Bierings MB, Wulffraat NM: Myelodysplastic features in Griscelli syndrome. J Pediat Hematol Onc, 2004; 26 (5): 275-276.
- Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Kruger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm CA, Marston SB, Bonnemann CG: TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol, 2015; 78 (6): 982-994. : http://dx.doi.org/10.1002/ana.24535
- Donkervoort S, Papadaki M, de Winter JM, Neu MB, Kirschner J, Bolduc V, Yang ML, Gibbons MA, Hu Y, Dastgir J, Leach ME, Rutkowski A, Foley AR, Kruger M, Wartchow EP, McNamara E, Ong R, Nowak KJ, Laing NG, Clarke NF, Ottenheijm CA, Marston SB, Bonnemann CG: TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype. Ann Neurol, 2015; 78 (6): 982-994. : http://dx.doi.org/10.1002/ana.24535
- Dördelmann M, Schrappe M, Reiter A, Zimmermann M, Graf N, Schott G, Lampert F, Niemeyer C, Ritter J, Dörffel W, Nessler G, Kühl J, Riehm H, for the BMT Group: Down's syndrome in childhood acute lymphoplastic leukemia: Clinical characteristics and treatment outcome in four consecutive BMF trials Leukemia, 1998; 12: 645-651.
- Dörffel W, Albrecht M, Lüders H, Marciniak H, Parwaresch R, Schwarze E-W, Trauzeddel R, Havers W, Henze G, Janka-Schaub G, Mann G, Niemeyer C, Pötter R, Schellong G, Selle B, Treuner J, Rühl U: Multinationale Therapiestudie für den Morbus Hodgkin bei Kindern und Jugendlichen GPOH-HD 95. Zwischenbericht nach 2 1/2 Jahren Klin Pädiatr, 1998; 212-219.
- Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, Frey-Jakobs S, Weidinger S, Moebus L, Franke A, Schaffer AA, Bulashevska A, Fuchs S, Ehl S, Limaye S, Arkwright PD, Briggs TA, Langley C, Bethune C, Whyte AF, Alachkar H, Nejentsev S, DiMaggio T, Nelson CG, Stone KD, Nason M, Brittain EH, Oler AJ, Veltri DP, Leahy TR, Conlon N, Poli MC, Borzutzky A, Cohen JI, Davis J, Lambert MP, Romberg N, Sullivan KE, Paris K, Freeman AF, Lucas L, Chandrakasan S, Savic S, Hambleton S, Patel SY, Jordan MB, Theos A, Lebensburger J, Atkinson TP, Torgerson TR, Chinn IK, Milner JD, Grimbacher B, Cook MC, Snow AL: Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J Allergy Clin Immun, 2019; 143 (4): 1482-1495. : http://dx.doi.org/10.1016/j.jaci.2018.08.013
- Dork T, Macek M, Mekus F, Tummler B, Tzountzouris J, Casals T, Krebsova A, Koudova M, Sakmaryova I, Macek M, Vavrova V, Zemkova D, Ginter E, Petrova NV, Ivaschenko T, Baranov V, Witt M, Pogorzelski A, Bal J, Zekanowsky C, Wagner K, Stuhrmann M, Bauer I, Seydewitz HH, Neumann T, Jakubiczka S: Characterization of a novel 21 kb deletion, CFTRdele2,3(21kb) in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe. Hum Genet, 2000; 106: 259-268.
- Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Mesched D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge J, Schmidtke J, Stuhrmann M: Distinct Spectrum of CFTR Gene Mutations in Congenital Absence of Vas Deferens. Hum. Genet., 1997; 100: 365-367.
- Dormann S, Duffner U, Martini C, Bohm N, Korinthenberg R, Niemeyer C: Chronic myelopathy after combined chemo-radiotherapy in a patient with relapsed mediastinal B-cell lymphoma Med Pediatr Oncol, 2002; 38: 442-444.
- Dormann S, Duffner U, Martini C, Böhm N, Korinthenberg R, Niemeyer C: Brief report: chronic myelopathy after combined chemo-radiotherapy in a patient with relapsed mediastinal B-cell lymphoma. Med Pediatr Oncol, 2002; 38 (6): 442-444.
- Dormann S, Kruger M, Hentschel R, Rasenack R, Strahm B, Kontny U, Niemeyer C: ife-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome. Eur J Pediatr, 2004; 163 (7): 374-377.
- Dormann S, Krüger M, Hentschel R, Rasenack R, Strahm B, Kontny U, Niemeyer C: Life-threatening complications of transient abnormal myelopoiesis in neonates with Down syndrome Eur J Pediatr, 2004; 163 (7): 374-377.
- Dost A, Bechtold-Dalla Pozza S, Bollow E, Kovacic R, Vogel P, Feldhahn L, Schwab KO, Holl RW: Blood pressure regulation determined by ambulatory blood pressure profiles in children and adolescents with type 1 diabetes mellitus: Impact on diabetic complications. Pediatr Diabetes, 2017; 18 (8): 874-882. : http://dx.doi.org/10.1111/pedi.12502
- Dost A,, Molz E, Krebs A, Bechtold S, Kapellen T, Rohrer T, Raile K, Fritsch M,, Schwab KO, Holl R: Pulse pressure in children and adolescents with type 1 diabetes mellitus in Germany and Austria. Pediatr Diabetes, 2014; 15 (3): 236-243.
- Dougherty GW, Loges NT, Klinkenbusch JA, Olbrich H, Pennekamp P, Menchen T, Raidt J, Wallmeier J, Werner C, Westermann C, Ruckert C, Mirra V, Hjeij R, Memari Y, Durbin R, Kolb-Kokocinski A, Praveen K, Kashef MA, Kashef S, Eghtedari F, Häffner K, Valmari P, Baktai G, Aviram M, Bentur L, Amirav I, Davis EE, Katsanis N, Brueckner M, Shaposhnykov A, Pigino G, Dworniczak B, Omran H: DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. Am J Resp Cell Mol, 2016; 55 (2): 213-224. : http://dx.doi.org/10.1165/rcmb.2015-0353OC
- Doyon A, Haas P, Erdem S, Ranchin B, Kassai B, Mencarelli F, Lugani F, Harambat J, Matteucci MC, Chinali M, Habbig S, Zaloszyc A, Testa S, Vidal E, Gimpel C, Azukaitis K, Kovacevic A, Querfeld U, Schaefer F: Impaired Systolic and Diastolic Left Ventricular Function in Children with Chronic Kidney Disease - Results from the 4C Study. Sci Rep-uk, 2019; 9 (1): 11462-11462. : http://dx.doi.org/10.1038/s41598-019-46653-3
- Drewes YM, Poortvliet RK, Blom JW, de Ruijter W, Westendorp RG, Stott DJ, Blom HJ, Ford I, Sattar N, Wouter Jukema J, Assendelft WJ, de Craen AJ, Gussekloo J: Homocysteine levels and treatment effect in the PROspective Study of Pravastatin in the Elderly at Risk. J Am Geriatr Soc, 2014; 62 (2): 213-221. : http://dx.doi.org/10.1111/jgs.12660
- Driller K, Pagenstecher A, Uhl M, Omran H, Berlis A, Gründer A, Sippel AE: Nuclear factor I X deficiency causes brain malformation and severe skeletal defects Mol Cell Biol, 2007; 27 (10): 3855-3867.
- Drognitz O, Donauer J, Kamgang J, Baier P, Neeff H, Lohrmann C, Pohl M, Hopt UT, Kirste G, Pisarski P: Living-donor kidney transplantation: the Freiburg experience. Langenbeck Arch Surg, 2007; 392 (1): 23-33.
- Drognitz O, Kirste G, Schramm I, Assmann A, Pohl M, Gobel H, Thomusch O, Hopt UT, Pisarski P: Kidney transplantation with concomitant unilateral nephrectomy: a matched-pair analysis on complications and outcome. Transplantation, 2006; 81 (6): 874-880.
- Druhan JP, Jakob A, Stewart J: The development of behavioral sensitization to apomorphine is blocked by MK-801. Eur J Pharmacol, 1993; 243 (1): 73-77.
- Drygalski Av, Bergsträßer E, Duffner U, Sauter S, Laer Dv, Brandis M, Niemeyer CM: Mumpsinfektion mit Meningoenzephalitis bei einem immunsupprimierten Kind mit akuter lymphatischer Leukämie. Monatsschr Kinderheilk, 1998; 146: 328-330.
- Du Bois F, Stiller B, Borth-Bruhns T, Unseld B, Kubicki R, Hoehn R, Reineker K, Grohmann J, Fleck T: Echocardiographic characteristics in Fontan patients before the onset of protein-losing enteropathy or plastic bronchitis. Echocardiogr-j Card, 2018; 35 (1): 79-84. : http://dx.doi.org/10.1111/echo.13737
- DuBose SN, Hermann JM, Tamborlane WV, Beck RW, Dost A, DiMeglio LA, Schwab KO, Holl RW, Hofer SE, Maahs DM: Obesity in Youth with Type 1 Diabetes in Germany, Austria, and the United States. J Pediatr-us, 2015; 167 (3): 627-32.e1. : http://dx.doi.org/10.1016/j.jpeds.2015.05.046
- Duffner U, Bergsträsser E, Sauter S, Bertz H, Niemeyer CM: Spuriously elevated cyclosporin A level caused by polyurethane central venous catheter. Lancet, 1998; 352: 1442.
- Duffner U, Lu B, Hildebrandt GC, Teshima T, Williams DL, Reddy P, Ordemann R, Clouthier SG, Lowler K, Liu C, Gerard C, Cooke KR, Ferrara JL: Role of CXCR3-induced donor T-cell migration in acute GVHD. Exp Hematol, 2003; 31 (10): 897-902.
- Duffner U, Niemeyer CM, Brandis M: Late effects after therapy of childhood cancer. Onkologie, 2000; 23: 112-118.
- Duffner U, Sauter S, Bergsträsser E, Brandis M, Niemeyer C: Onkologische Nachsorge - ein patientenorientiertes Konzept. Ein Basisdiagnostikplan für pädiatrisch-onkologische Patienten. Klin Pädiatr, 1995; 207: 193-203.
- Duffner U, Yoshinobu M, Kenneth R, Pavan R, Ordemann R, Chem L, James L, Takanori T: Host dendritic cells alone are sufficient to initate acute graft-versus host disease J Immunol, 2004; 172: 7393-7398.
- Dührsen U, Kratz CP, Flotho C, Lauenstein T, Bommer M, Konig E, Brittinger G, Heimpel H: Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation Ann Hematol, 2011; 90 (3): 301-306. : http://dx.doi.org/10.1007/s00277-010-1088-9
- Duijkers FA, McDonald A, Janssens GE, Lezzerini M, Jongejan A, van Koningsbruggen S, Leeuwenburgh-Pronk WG, Wlodarski MW, Moutton S, Tran-Mau-Them F, Thauvin-Robinet C, Faivre L, Monaghan KG, Smol T, Boute-Benejean O, Ladda RL, Sell SL, Bruel AL, Houtkooper RH, MacInnes AW: HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans. Am J Hum Genet, 2019. : http://dx.doi.org/10.1016/j.ajhg.2019.03.024 (in Druck)
- Dümpelmann M, Jacobs J, Kerber K, Schulze-Bonhage A: Automatic 80-250Hz "ripple" high frequency oscillation detection in invasive subdural grid and strip recordings in epilepsy by a radial basis function neural network. Clin Neurophysiol, 2012; 123 (9): 1721-1731. : http://dx.doi.org/10.1016/j.clinph.2012.02.072
- Dümpelmann M, Jacobs J, Schulze-Bonhage A: Temporal and spatial characteristics of high frequency oscillations as a new biomarker in epilepsy. Epilepsia, 2015; 56 (2): 197-206. : http://dx.doi.org/10.1111/epi.12844
- Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, Elawad M, Fiil BK, Gyrd-Hansen M, Salzer U, Speckmann C, Grimbacher B: Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. J Clin Immunol, 2015; 35 (5): 439-444. : http://dx.doi.org/10.1007/s10875-015-0166-0
- Eckenweiler M, Catarino CB, Gallenmueller C, Klopstock T, Lagrèze WA, Korinthenberg R, Kirschner J: Mitochondrial DNA mutation 14487T>C manifesting as Leber`s hereditary optic neuropathy J Neurol, 2015; 262 (12): 2776-2779. : http://dx.doi.org/10.1007/s00415-015-7955-5
- Edenharter G, Gergamnn RL, Bergamann KE, Wahn V, Forster J, Zepp F, Wahn U: Cord blood IgE as risk factor and predictor for atopic diseases Clin Exp Allergy, 1998; 28: 671-678.
- Edenharter G., R.L. Bergmann, Bergmann K.E., Bauer CP., Forster J., Wahn V., Zepp F., ahn U.: Cord Blood-IgE as Risk Factor and Predictor for Atopic Diseases. Clin. Exper. Allergy, 1998; 28: 671-678.
- Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J, Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H: Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination. Brain, 2019; 142 (10): 2948-2964. : http://dx.doi.org/10.1093/brain/awz248
- Ehehalt S, Blumenstock G, Willasch AM, Hub R, Ranke MB, Neu A, DIARY-study Group Baden-Württemberg: Continuous rise in incidence of childhood Type 1 diabetes in Germany. Diabetic Med, 2008; 25 (6): 755-757.
- Ehehalt S, Dietz K, Willasch AM, Neu A, Baden-Württemberg Diabetes Incidence Registry (DIARY) Group: Epidemiological perspectives on type 1 diabetes in childhood and adolescence in germany: 20 years of the Baden-württemberg Diabetes Incidence Registry (DIARY). Diabetes Care, 2010; 33 (2): 338-340.
- Ehehalt S, Gauger N, Blumenstock G, Feldhahn L, Scheffner T, Schweizer R, Neu A, for the DIARY-Group Baden-Wuerttemberg.: Hemoglobin A1c is a reliable criterion for diagnosing type 1 diabetes in childhood and adolescence. Pediatr Diabetes, 2010; 116 (7): 446-449. : http://doi: 10.1111/j.1399-5448.2009.00633.x
- Ehehalt S, Popovic P, Muntoni S, Muntoni S, Willasch A, Hub R, Ranke MB, Neu A, DIARY Group Baden-Wuerttemberg: Incidence of diabetes mellitus among children of Italian migrants substantiates the role of genetic factors in the pathogenesis of type 1 diabetes. Eur J Pediatr, 2009; 168: 613-617. : http://dx.doi.org/10.1007/s00431-008-0808-9
- Ehehalt S,, Dietz K, Willasch AM, Neu A; DIARY-Group Baden-Wuerttemberg.: Prediction model for the incidence and prevalence of type 1 diabetes in childhood and adolescence: evidence for a cohort-dependent increase within the next two decades in Germany. Pediatr Diabetes, 2012; 13 (1): 15-20. : http://doi: 10.1111/j.1399-5448.2011.00799.x
- Ehl, S, Bischoff R, Ostler T, Vallbracht S, Schulte-Monting J, Poltorak A, Freudenberg M: The role of Toll-like receptor 4 versus interleukin-12 in immunity to respiratory syncytial virus. Eur J Immunol, 2004; 34: 1146-1153.
- Ehlken B, Karmaus W, Frank HD, Henker J, Rieger C, Stehr K, Petersen G, Lorkowski G, Forster J, RoMoD-Study Group: Rotavireninfektionen im Kindesalter Krh Hyg Inf verh, 1998; 20: 103-106.
- Ehl S, Aichele P, Ramseier H, Barchet W, Hombach J, Pircher H, Hengartner H, Zinkernagel RM: Antigen persistence and time of T-cell tolerization determine the efficacy of tolerization protocols for prevention of skin graft rejection. Nat Med, 1998; Sep; 4(9): 1015-1019.
- Ehl S, Aichele P, Ramseier H, Barchet W, Hombach J, Pircher H, Hengartner H, Zinkernagel RM: Antigen persistence and time of T-cell tolerization determine the efficacy of tolerization protocols for prevention of skin graft rejection. Nat Med, 1998; 4 (9): 1015-1019. : http://dx.doi.org/10.1038/2001
- Ehl S, Aichele P, Ramseier H, Barchet W, Hombach J, Pircher HP, Hengartner H, Zinkernagel RM: Antigen persistance and time point of T cell tolerization determine the efficacy of tolerization protocols for prevention of skin graft rejection. Nat. Med., 1999; 9: 1015-1019. (in Druck)
- Ehl S, Barchet W, Oehen S, Aichele P, Hombach J, Hengartner H, Zinkernagel RM: Donor cell persistence and activation-induced unresponsiveness of periphereal CD8+T cells. Eur J Immunol, 2000; 30: 883-891.
- Ehl S, Barchet W, Oehen S, Aichele P, Hombach J, Hengartner H, Zinkernagel RM: Donor cell persistence and activation-induced unresponsiveness of peripheral CD8+ T cells. Eur J Immunol, 2000; 30 (3): 883-891. : http://dx.doi.org/10.1002/1521-4141(200003)30:3<883::AID-IMMU883>3.0.CO;2-U
- Ehl S, Bischoff R, Ostler T, Vallbracht S, Schulte-Monting J, Poltorak A, Freudenberg M: The role of Toll-like receptor 4 versus interleukin-12 in immunity to respiratory syncytial virus. Eur J Immunol, 2004; 34 (4): 1146-1153. : http://dx.doi.org/10.1002/eji.200324449
- Ehl S, Gehring B, Pohlandt F: A detailed analysis of changes in serum C-reactive protein levels in neonates treated for bacterial infection. Eur J Pediatr, 1999; 158 (3): 238-242.
- Ehl S, Gering B, Bartmann P, Hogel J, Pohlandt F: C-reactive protein is a useful marker for guiding duration of antibiotic therapy in suspected neonatal bacterial infection. Pediatrics, 1997; 99 (2): 216-221.
- Ehl S, Gering B, Bertmann P, Hogel J, Pohlandt F: C-reactive protein is a useful marker for guiding duration of antibiotic therapy in suspected neonatal bacterial infection. Pediatrics, 1997; 99: 216-221.
- Ehl S, Hoffmann-Rohrer U, Nagata S, Hengartner H, Zinkernagel R: Different susceptibility of cytotoxic T cells to CD95 (Fas/Apo-1) ligand-mediated cell death after activation in vitro versus in vivo. J Immunol, 1996; 156 (7): 2357-2360.
- Ehl S, Hoffmann-Rohrer U, Nagata S, Hengartner H, Zinkernagel RM: Different susceptibility of cytotoxic T cells to CD95 (Fas/Apo-1) ligand-mediated cell death after activation in vitro versus in vivo. J. Immunol., 1996; 156: 2357-2360.
- Ehl S, Hombach J, Aichele P, Hengartner H, Zinkernagel RM: Bystander activation of cytotoxic T cells: studies on the mechanism and evaluation of in vivo significance in a transgenic mouse model. J. Exp. Med., 1997; 185: 1241-1251.
- Ehl S, Hombach J, Aichele P, Hengartner H, Zinkernagel RM: Bystander activation of cytotoxic T cells: studies on the mechanism and evaluation of in vivo significance in a transgenic mouse model. J Exp Med, 1997; 185 (7): 1241-1251.
- Ehl S, Hombach J, Aichele P, Odermatt B, Ruelicke T, Hengartner H, Zinkernagel RM, Pircher HP: Viral and bacterial infections interfere with peripheral tolerance induction and activate CD8+ T cells to cause immunopathology. J. Exp. Med., 1998; 187: 763-774.
- Ehl S, Hombach J, Aichele P, Rulicke T, Odermatt B, Hengartner H, Zinkernagel R, Pircher H: Viral and bacterial infections interfere with peripheral tolerance induction and activate CD8+ T cells to cause immunopathology. J Exp Med, 1998; 187 (5): 763-774.
- Ehl S, Klenermann P, Aichele P, Hengartner H, Zinkernagel RM: A functional and kinetic comparision of antiviral effector and memory cytotoxic T lymphocyte populations in vivo and in vitro. Eur. J. Immunol., 1997; 27: 3404-3413.
- Ehl S, Klenerman P, Aichele P, Hengartner H, Zinkernagel RM: A functional and kinetic comparison of antiviral effector and memory cytotoxic T lymphocyte populations in vivo and in vitro. Eur J Immunol, 1997; 27 (12): 3404-3413.
- Ehl S, Klenerman P, Zinkernagel RM, Bocharov G: The impact of the number of CTL precursors on the outcome of virus infection. Cell Immunol., 1998; 189: 66-73.
- Ehl S, Klenerman P, Zinkernagel RM, Bocharov G: The impact of variation in the number of CD8(+) T-cell precursors on the outcome of virus infection. Cell Immunol, 1998; 189 (1): 67-73. : http://dx.doi.org/10.1006/cimm.1998.1344
- Ehl S, Nuesch R, Tanaka T, Myasaka M, Hengartner H, Zinkernagel R: A comparison of efficacy and specificity of three NK depleting antibodies. J Immunol Methods, 1996; 199 (2): 149-153.
- Ehl S, Nuesch R, Tanaka T, Myasaka M, Hengartner H, Zinkernagel RM: A comparision of efficacy and specificity of three NK depleting antibodies. J. Immunol. Methods, 1996; 149-153.
- Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P: A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest, 2005; 115 (11): 3140-3148. : http://dx.doi.org/10.1172/JCI25221
- Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kühr J, Mascart F, Schmitt-Graeff A, Niemeyer CM, Fisch P: A variant of SCID with specific immune responses and predominance of γδ T cells. J Clin Invest, 2005; 115 (11): 3140-3148.
- Ehl S, Severin T, Sutor AH: DDAVP (desmopressin; 1-deamino-cys-8-D-arginine-vasopressin) treatment in children with haemophilia B. Brit J Haematol, 2000; 111 (4): 1260-1262.
- Ehl S, Severin T, Sutor AH: DDAVP (desmopressin; 1-deamino-cys-8-D-arginine-vasopressin) treatment in children with haemophilia B. Brit J Haematol, 2000; 111 (4): 1260-1262.
- Ehl S, Uhl M, Berner R, Bonafe L, Superti-Furga A, Kirchhoff A: Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. Rheumatol Int, 2004; 24 (1): 53-56. : http://dx.doi.org/10.1007/s00296-003-0341-0
- Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P: A variant of SCID with specific immune responses and predominance of gammadelta T cells. J Clin Invest, 2005; 115 (11): 3140-3148.
- Ehl S., Gehring B., Pohlandt F.: A detailed analysis of changes in serum C-reactive proteinlevels in neonates treated for bacterial infection. European Journal of Pediatrics, 1999; Mar 158(3): 238-242.
- Eichhorn JG,, Krissak R,, Rüdiger HJ,, Ley S,, Arnold R,, Boese J,, Krug R,, Gorenflo M,, Khalil M,, Ulmer H,, Kauczor HU,, Fink C.: Compliance of the normal-sized aorta in adolescents with Marfan syndrome: comparison of MR measurements of aortic distensibility and pulse wave velocity Rofo-fortschr Rontg, 2007; 179 (8): 841-6.
- Eiden S, Lausch E, Meckel S: Involution von Cherubismus im MRT unter Therapie mit Imatinib Rofo-fortschr Rontg, 2017; 189 (7): 675-677. : http://dx.doi.org/10.1055/s-0043-105074
- Elgizouli M, Logan C, Grychtol R, Rothenbacher D, Nieters A, Heinzmann A: Reduced PRF1 enhancer methylation in children with a history of severe RSV bronchiolitis in infancy: an association study. Bmc Pediatr, 2017; 17 (1): 65-65. : http://dx.doi.org/10.1186/s12887-017-0817-9
- Elgizouli M, Lowe DM, Speckmann C, Schubert D, Hulsdunker J, Eskandarian Z, Dudek A, Schmitt-Graeff A, Wanders J, Jorgensen SF, Fevang B, Salzer U, Nieters A, Burns S, Grimbacher B: Activating PI3Kdelta mutations in a cohort of 669 patients with primary immunodeficiency. Clin Exp Immunol, 2016; 183 (2): 221-229. : http://dx.doi.org/10.1111/cei.12706
- Ellerbroek VL, Bonfig W, Dorr HG, Bettendorf M, Hauffa B, Fricke-Otto S, Rohrer T, Reschke F, Schonau E, Schwab KO, Kapelari K, Rohl FW, Mohnike K, Holl RW: Long-term Surveillance of Children with Congenital Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (AQUAPE "Hypo Dok"). Klin Padiatr, 2015; 227 (4): 199-205. : http://dx.doi.org/10.1055/s-0035-1549978
- Elling R, Bottcher S, du Bois F, Muller A, Prifert C, Weissbrich B, Hofmann J, Korn K, Eis-Hubinger AM, Hufnagel M, Panning M: Epidemiology of Human Parechovirus Type 3 Upsurge in 2 Hospitals, Freiburg, Germany, 2018. Emerg Infect Dis, 2019; 25 (7): 1384-1388. : http://dx.doi.org/10.3201/eid2507.190257
- Elling R, Hufnagel M, Imm A, de Zoysa A, Lander F, Zumstein K, Kunze M, Lausch E, Krueger M, Henneke P: Synchronous recurrence of group B streptococcal late-onset sepsis in twins. Pediatrics, 2014; 133 (5): e1388-1391. : http://doi: 10.1542/peds.2013-0426
- Elling R, Keller B, Weidinger C, Haffner M, Deshmukh SD, Zee I, Speckmann C, Ehl S, Schwarz K, Feske S, Henneke P: Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils. J Allergy Clin Immun, 2016; 137 (5): 1587-1591.e7. : http://dx.doi.org/10.1016/j.jaci.2015.09.047
- Elling R, Robinson EK, Shapleigh B, Liapis SC, Covarrubias S, Katzman S, Groff AF, Jiang Z, Agarwal S, Motwani M, Chan J, Sharma S, Hennessy EJ, FitzGerald GA, McManus MT, Rinn JL, Fitzgerald KA, Carpenter S: Genetic Models Reveal cis and trans Immune-Regulatory Activities for lincRNA-Cox2. Cell Rep, 2018; 25 (6): 1511-1524.e6. : http://dx.doi.org/10.1016/j.celrep.2018.10.027
- Elling R, Spehl MS, Wohlfarth A, Auwaerter V, Hermanns-Clausen M: Prolonged hypoglycemia after a suicidal ingestion of repaglinide with unexpected slow plasma elimination. Clin Toxicol, 2016; 54 (2): 158-160. : http://dx.doi.org/10.3109/15563650.2015.1122793 (download: http://www.tandfonline.com/doi/full/10.3109/15563650.2015.1122793)
- Elling R, Stiller B, Grohmann J: Transcatheter device occlusion of the left ventricular outflow tract as treatment for severe aortic regurgitation in hypoplastic left heart syndrome. Catheter Cardio Inte, 2014. : http://dx.doi.org/10.1002/ccd.25782 (in Druck)
- Elling R, Stiller B, Grohmann J: Transcatheter device occlusion of the left ventricular outflow tract as treatment for severe aortic regurgitation in hypoplastic left heart syndrome. Catheter Cardio Inte, 2015; 86 (3): 463-466. : http://dx.doi.org/10.1002/ccd.25782
- El-Moneim AA, Kratz CP, Boell S, Rister M, Pahl HL, Niemeyer CM: Essential versus reactive thrombocytopenia in children: Retrospective analyses of 12 cases. Pediatr Blood Cancer, 2007; 49: 52-55.
- Emmerich F, Daskalakis M, Niemeyer CM: A novel HLA-C allele, HLA-Cw*06:20. Tissue Antigens, 2010; 76 (5): 425-425. : http://dx.doi.org/10.1111/j.1399-0039.2010.01540.x
- Endele S, Rosenberger G, Stefanova I, Tamer C, Popp B, Milh M, Fritsch A, Pientka FK, Kortüm F, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Rauch A,, Ropers H-H, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K: Mutations in GRIN2A and GRIN2B encoding modulatory subunits of NMDA receptors cause different neurodevelopmental phenotypes. Nat Genet, 2010; 42: 1021-1026.
- Enderle B, Moser I, Kannan C, Schwab KO, Urban G: Interstitial Glucose and Lactate Levels Are Inversely Correlated With the Body Mass Index: Need for In Vivo Calibration of Glucose Sensor Results With Blood Values in Obese Patients. J Diabetes Sci Technol, 2017: 1932296817730377-1932296817730377. : http://dx.doi.org/10.1177/1932296817730377 (in Druck)
- Enderle B, Moser I, Kannan C, Schwab KO, Urban G: Interstitial Glucose and Lactate Levels Are Inversely Correlated With the Body Mass Index: Need for In Vivo Calibration of Glucose Sensor Results With Blood Values in Obese Patients. J Diabetes Sci Technol, 2018; 12 (2): 341-348. : http://dx.doi.org/10.1177/1932296817730377
- Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S: A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol, 2006; 176 (8): 5060-5068.
- Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikolopoulos E, Peters A, Orlowska-Volk M, Schindler D, Friedrich W, Selle B, Niemeyer C, Ehl S: A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol, 2006; 176 (8): 5060-5068.
- Enders A, Fisch P, Schwarz K, Duffner U, Pannicke U, Nikopoulos E, Peters A, Orlowska-Volk M, Schneider D, Friedrich W, Selle B, Niemeyer CM, Ehl S: A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol, 2006; 176: 5060-5068.
- Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S: Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4. J Pediatr, 2004; 145 (5): 698-700. : http://dx.doi.org/10.1016/j.jpeds.2004.06.065
- Enders A, Pannicke U, Berner R, Henneke P, Radlinger K, Schwarz K, Ehl S: Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4. J Pediatr, 2004; 145 (5): 698-700. : http://dx.doi.org/10.1016/j.jpeds.2004.06.065
- Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Müller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer CM, Nurden P, Ehl S: Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood, 2006; 108 (1): 81-87.
- Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Muller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S: Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood, 2006; 108 (1): 81-87.
- Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, Kontny U, Muller C, Nurden A, Rohr J, Henschen M, Pannicke U, Niemeyer C, Nurden P, Ehl S: Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood, 2006; 108 (1): 81-87. : http://dx.doi.org/10.1182/blood-2005-11-4413
- Enders Anselm, Pannicke Ulrich, Berner Reinhard, Henneke Phillip, Radlinger Klaus, Schwarz Klaus, Ehl Stephan: Two siblings with lethal pneumococcal meningitis in a family with mutations in Interleukin-1 receptor associated kinase 4. J Pediatr, 2004; 145: 698-670.
- Engelhardt M, Jakob A, Ruter B, Trepel M, Hirsch F, Lubbert M: Severe cold hemagglutinin disease (CHD) successfully treated with rituximab. Blood, 2002; 100 (5): 1922-1923.
- Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA: NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
Nmr Biomed, 2008; 21 (2): 138-147.
- Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA: NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed, 2008; 21 (2): 138-147. : http://dx.doi.org/10.1002/nbm.1170
- Engels E.M., Lange J, Beischer D, Kühr J, Kopp M.V.: In-vitro Leukotrienproduktion gemessen im CAST-ELISA über einen Beobachtungszeitraum von 5 Monaten. Allergologie, 2002; 25 (9): 450-465.
- Engels EM, Lange J, Beischer D, Kühr J, Kopp MV: In-vitro Leukotrienproduktion gemessen im CAST-ELISA über einen Beobachtungszeitraum von fünf Monaten. Allergologie, 2002; 25: 460-465.
- Enklaar T, Brixel LR,, Zabel B, Prawitt D: Adding efficiency: The role of the CAN ion channels TRPM4 and TRPM5 in pancreatic islets. Islets, 2010; 2 (5): 337-338.
- Ensenauer R, C.B. Müller, K.O. Schwab, K.M. Gibson, M. Brandis, W. Lehnert: 3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign. J Inherit Metab Dis, 2000; 23: 341-344.
- Ensenauer R, Niederhoff H, Ruiter JP, Wanders RJ, Schwab KO, Brandis M, Lehnert W: Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency. Ann Neurol, 2002; 51 (5): 656-659.
- Ensenauer R, Thiel T, Schwab K.O., Tacke U, Stöckler-Ipsiroglu S, Schulze A, Hennig J, Lehnert W: Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle Mol Genet Metab, 2004; 82: 208-213.
- Ensenauer R, Thiel T, Schwab KO, Tacke U, Stockler-Ipsiroglu S, Schulze A, Hennig J, Lehnert W: Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle. Mol Genet Metab, 2004; 82 (3): 208-213.
- Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D: A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet, 2004; 75 (6): 1136-1142. : http://dx.doi.org/10.1086/426318
- Ensenauer R., Hentschel R., Rückauer K., Rädecke J., Brandis M., Berner R.: Hepatopathy in two infants with short-bowel syndrome and cytomegalovirus infection. European Journal of Pediatric Surgery, 1999; 9: 244-247.
- Ensenauer R., Müller CB., Schwab KO., Gibson KM., Brandis M., Lehnert W.: 3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign. J. Inher. Metab. Dis, 1999.
- Erlacher M, Grunert SC, Cseh A, Steinfeld R, Salzer U, Lausch E, Nosswitz U, Duckers G, Niehues T, Ehl S, Niemeyer CM, Speckmann C: Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption. Pediatr Blood Cancer, 2015; 62 (6): 1091-1094. : http://dx.doi.org/10.1002/pbc.25364
- Erlacher M, Grunert SC, Cseh A, Steinfeld R, Salzer U, Lausch E, Nosswitz U, Duckers G, Niehues T, Ehl S, Niemeyer CM, Speckmann C: Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption. Pediatr Blood Cancer, 2015; 62 (6): 1091-1094. : http://dx.doi.org/10.1002/pbc.25364
- Erlacher M, Grünert SC, Cseh A, Steinfeld R, Salzer U, Lausch E, Nosswitz U, Dückers G, Niehues T, Ehl S, Niemeyer CM, Speckmann C: Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption. Pediatr Blood Cancer, 2015; 62: 1091-1094. : http://dx.doi.org10.1002/phc.25364
- Erlacher M, Heiss J, Hainmann I, Uhl M, Budde U, Oldenburg J, Ivaskevicius V, Al-Jamali J, Zajonc H, Superti-Furga A, Zieger B: Novel findings in two patients with late-diagnosed afibrinogenaemia: intraosseous haemorrhage and fingertip necrosis. Haemophilia, 2009; 15 (4): 980-982. : http://dx.doi.org/10.1111/j.1365-2516.2009.02033.x
- Erlacher M, Heiss J, Hainmann I, Uhl M, Budde U, Oldenburg J, Ivaskevicius V, Al-Jamali J, Zajonc H, Superti-Furga A, Zieger B: Novel findings in two patients with late-diagnosed afibrinogenaemia: intraosseous haemorrhage and fingertip necrosis. Haemophilia, 2009; 15 (4): 980-982.
- Ermisch B, Gross O, Netzer KO, Wber M, Brandis M, Zimmerhackl LB: Sporadic case of x-chomosomal Alport sndrome in a consanguineous family. Pediatr Nephrol, 2000; 14: 758-761.
- Ermisch B, Hildebrandt F, Zimmerhackl LB, Pohl M, Gordjani N, Niederhoff H, Matern D, Seydewitz HH, Lehnert W, Leititis JU, Brandis M: Behandlung des hyperammonämischen Komas bei Neugeborenen und Säuglingen durch Hämodialyse oder Hämofiltration. Monatsschr. Kinderheilk., 1997; 145: 714-718.
- Ermisch B, Zimmerhackl LB, Kirste G, Brandis M: Improvement of liver function in a pediatric patient with biiary cirrhosis after triple immunosuppression with mycophenolate following renal transplantation. Nephrol. Dial. Transpl., 1998; 13: 1324-1325.
- Escobar H, Häffner K, Pohl M, Hopfer H, Determann O, Lauten M, Kontny U: Acute renal failure associated with bilateral enlargement of the kidneys: a rare manifestation of acute lymphoblastic leukemia (ALL). Klin Padiatr, 2009; 221 (3): 176-178.
- Escobar H,, Häffner K,, Pohl M,, Hopfer H,, Determann O,, Lauten M,, Kontny U: Acute renal failure associated with bilateral enlargement of the kidneys: a rare manifestation of acute lymphoblastic leukemia (ALL). Klin Padiatr, 2009; 221 (3): 176-178.
- Esse R, Imbard A, Florindo C, Gupta S, Quinlivan EP, Davids M, Teerlink T, Tavares de Almeida I, Kruger WD, Blom HJ *, Castro R *: Protein arginine hypomethylation in a mouse model of cystathionine beta-synthase deficiency. Faseb J, 2014; 28 (6): 2686-2695. : http://dx.doi.org/10.1096/fj.13-246579
- Estephan EP, Zambon AA, Marchiori PE, da Silva AMS, Caldas VM, Moreno CAM, Reed UC, Horvath R, Topf A, Lochmuller H, Zanoteli E: Clinical variability of early-onset congenital myasthenic syndrome due to biallelic RAPSN mutations in Brazil. Neuromuscular Disord, 2018; 28 (11): 961-964. : http://dx.doi.org/10.1016/j.nmd.2018.08.007
- Estevez R, Boettger T, Stein V, Birkenhager R, Otto E, Hildebrandt F, Jentsch TJ: Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature, 2001; 414: 558-561.
- Etzler J, Peyrl A, Zatkova A, Schildhaus HU, Ficek A, Merkelbach-Bruse S, Kratz CP, Attarbaschi A, Hainfellner JA, Yao S, Messiaen L, Slavc I, Wimmer K: RNA-based muttion analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat, 2007; 29 (2): 299-305.
- Etzler J, Peyrl A, Zatkova A, Schildhaus HU, Ficet A, Merkelbach-Bruse S, Kratz CP, Attarbaschi A, Hainfellner JH, Yao S, Messiaen L, Slavc I, Wimmer K: RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. Hum Mutat, 2008; 29 (2): 299-305.
- Evangelou MW, Hockmann K, Pokharel R, Jakob A, Schulin R: Accumulation of Sb, Pb, Cu, Zn and Cd by various plants species on two different relocated military shooting range soils. J Environ Manage, 2012; 108: 102-107. : http://dx.doi.org/10.1016/j.jenvman.2012.04.044
- Ewert P, Berger F, Nagdyman N, Kretschmar O, Dittrich S, Abdul-Khaliq H, Lange P: Masked left ventricular restriction in elderly patients with atrial septal defects: a contraindication for closure? Catheter Cardio Inte, 2001; 52 (2): 177-180.
- Faber J, Schoene-Bake JC, Trautner P, von Lehe M, Elger CE, Weber B: Progressive fiber tract affections after temporal lobe surgery. Epilepsia, 2013; 54 (4): e53-57. : http://doi: 10.1111/epi.12077
- Faber J, Schuessler T, Finn A, Murdoch C, Zenz W, Habermehl P, Meyer CU, Zabel BU, Schmitt H, Zepp F, Knuf M: Age-dependent association of human mannose-binding lectin mutations with susceptibility to invasive meningococcal disease in childhood. Pediatr Infect Dis J, 2007; 26 (3): 243-246.
- Faber J, Meyer CU, Gemmer C, Russo A, Murdoch C, Zenz W, Mannhalter C,, Zabel BU,, Schmitt HJ, Habermehl P, Zepp F, Knuf M: Human toll-like receptor 4 mutations are associated with susceptibility to invasive meningococcal disease in infancy. Pediatr Infect Dis J, 2006; 25: 80-81.
- Faivre L, Meerpohl J, Da Costa L, Marie I, Nouvel C, Gnekow A, Bender-Götze C, Bauters F, Coiffier B, Peaud PY, Rispal P, Berrebi A, Berger C, Flesch M, Sagot P, Varet B, Niemeyer CM, Tchernia G, Leblanc T: High-risk pregnancies in Diamond-Blackfan anemia: a survey of 64 pregnancies from the French and German registries. Haematol-hematol J, 2006; 91 (4): 530-533.
- Falcone V, Bierbaum S, Kern W, Kontny U, Bertz H, Huzly D, Panning M: Influenza virus A(H1N1)pdm09 hemagglutinin polymorphism and associated disease in southern Germany during the 2010/11 influenza season. Arch Virol, 2013; 158 (6): 1297-1303. : http://dx.doi.org/10.1007/s00705-013-1610-1
- Falcone V, Panning M, Strahm B, Vraetz T, Bierbaum S, Neumann-Haefelin D, Huzly D: Prolonged KI polyomavirus infection in immunodeficient child. Emerg Infect Dis, 2012; 18 (4): 706-708.
- Farace F, Taylor M, Rössler J, Loriot Y, Besse B: Quantification of circulating vascular endothelial growth factor receptor-3-positive lymphatic/vascular endothelial progenitor cells. Clin Cancer Res, 2009; 15 (21): 6740-6741.
- Faraci M, Diesch T, Labopin M, Dalissier A, Lankester A, Gennery A, Sundin M, Uckan-Cetinkaya D, Bierings M, Peters AMJ, Garwer M, Schulz A, Michel G, Giorgiani G, Gruhn B, Locatelli F, Giardino S, Uyttebroeck A, Rialland F, Itala-Remes M, Dreger P, Shaw PJ, Bordon V, Schlegel PG, Mellgren K, Moraleda JM, Patrick K, Schneider P, Jubert C, Lawitschka A, Salooja N, Basak GW, Corbacioglu S, Duarte R, Bader P: Gonadal Function after Busulfan Compared with Treosulfan in Children and Adolescents Undergoing Allogeneic Hematopoietic Stem Cell Transplant. Biol Blood Marrow Tr, 2019; 25 (9): 1786-1791. : http://dx.doi.org/10.1016/j.bbmt.2019.05.005
- Farah RA, Kamel L, Roy N, Proven M, Wray K, Roberts I, Wlodarski MW: A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment. J Pediat Hematol Onc, 2019. : http://dx.doi.org/10.1097/MPH.0000000000001435 (in Druck)
- Farmand S, Henneke P, Hufnagel M, Berner R: Significant decline in the erythromycin resistance of group A streptococcus isolates at a German paediatric tertiary care centre. Eur J Clin Microbiol, 2011. : http://dx.doi.org/10.1007/s10096-011-1362-3 (in Druck)
- Farmand S, Henneke P, Hufnagel M, Berner R: Significant decline in erythromycin resistance of Group A Streptococcus isolates at a German paediatric tertiary care centre Eur J Clin Microbiol, 2012; 31: 707-710. : http://dx.doi.org/10.1007/s10096-011-1362-3
- Farmand S, Henneke P, Hufnagel M, Berner R: Significant decline in the erythromycin resistance of group A streptococcus isolates at a German paediatric tertiary care centre. Eur J Clin Microbiol, 2012; 31 (5): 707-710. : http://dx.doi.org/10.1007/s10096-011-1362-3
- Farmand S, Kremer B, Haffner M, Putsep K, Bergman P, Sundin M, Ritterbusch H, Seidl M, Follo M, Henneke P *, Henriques-Normark B *: Eosinophilia and reduced STAT3 signaling affect neutrophil cell death in autosomal-dominant Hyper-IgE syndrome. Eur J Immunol, 2018; 48 (12): 1975-1988. : http://dx.doi.org/10.1002/eji.201847650
- Farmand S, Wirth S, Henneke P: Reply to the correspondence letter by Dr. Giuseppe Indolfi "Spontaneous clearance of hepatitis C virus in vertically infected children. Any clue for treatment?" Eur J Pediatr, 2011. : http://dx.doi.org/10.1007/s00431-011-1583-6
- Farmand S, Wirth S, Loffler H, Woltering T, Kenzel S, Lainka E, Henneke P: Spontaneous clearance of hepatitis C virus in vertically infected children. Eur J Pediatr, 2012; 171 (2): 253-258. : http://dx.doi.org/10.1007/s00431-011-1517-3
- Farmand S,, Wirth S, Löffler H, Woltering T, Kenzel S, Lainka E,, Henneke P: Spontaneous clearance of hepatitis C virus in vertically infected children. Eur J Pediatr, 2012; 171 (2): 253-258. : http://doi: 10.1007/s00431-011-1517-3
- Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D: Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat, 2006; 27 (7): 705-710.
- Fassnacht U, Velthoven van V, Schwab K.O., Superti-Furga A, Korinthenberg R: Rationale und rationelle Diagnostik bei leichtem Schädel-Hirn-Trauma Kinderärztliche Praxis, 2007; 78: 207-210.
- Fauser S, Huppertz HJ, Bast T, Strobl K, Pantazis G, Altenmueller DM, Feil B, Rona S, Kurth C, Rating D, Korinthenberg R, Steinhoff BJ, Volk B, Schulze-Bonhage A: Clinical characteristics in focal cortical dysplasia: a retrospective evaluation in a series of 120 patients. Brain, 2006; 129 (7): 1907-1916.
- Fauser S, Schulze-Bonhage A, Honegger J, Carmona H, Huppertz HJ, Pantazis G, Rona S, Bast T, Strobl K, Steinhoff BJ, Korinthenberg R, Rating D, Volk B, Zentner J: Focal cortical dysplasias: surgical outcome in 67 patients in relation to histological subtypes and dual pathology Brain, 2004; 11: 2406-2418.
- Feddersen B, De la Fontaine L, Sass JO, Lutz J, Abicht A, Klopstock T, Verma IC, Meisenzahl E, Pogarell O: Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa. Am J Psychiat, 2009; 166 (4): 494-495. : http://dx.doi.org/10.1176/appi.ajp.2008.08101525
- Fegert J.M., Bergmann R., Vogl-Voswinckel L., Tacke U., Krause g., Groeger M., Bergmann K.E., Wahn U.: Verhaltensauffälligkeiten bei Neurodermitis in den ersten drei Lebensjahren. Kindheit und Entwicklung, 1996; 5,111: 262-267.
- Fegert J.M., Bergmann R., Vogl-Voswinkel L., Tacke U., Krause G., Groeger M., Bergmann K.E., Wahn U.: Verhaltensauffälligkeiten bei Neurodermitis in den ersten drei Lebensjahren. Kindheit und Entwicklung, 1999; 5, 111: 262-267.
- Fegert J.M., Schulz J., Bergmann R., Tacke U., Bergmann K.E., Wahn U.: Schlafverhalten in den ersten drei Lebensjahren. Praxis Kinderpsychol.Kinderpsychiat., 1997; 46: 69-91.
- Fegert JM, Bergmann R, Bauer CP, Forster J, Zepp F, Wahn V, Schmidt E, Bergmann KE, Wahn U: Atopisches Ekzem in den ersten 3 Lebensjahren. Ist diese Konstellation gleichbedeutend mit einer Störung der Mutter-Kind-Beziehung und Verhaltensauffälligkeiten? Pädiat Prax, 1997; 52: 233-244.
- Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U, Amann KU, Kruger-Stollfuss I, Bolz HJ, Häffner K, Pohl M, Bergmann C: Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr Nephrol, 2014; 29 (8): 1451-1456. : http://dx.doi.org/10.1007/s00467-014-2762-2
- Feis DL, Schoene-Bake JC, Elger C, Wagner J, Tittgemeyer M, Weber B: Prediction of post-surgical seizure outcome in left mesial temporal lobe epilepsy. Neuroimage Clin, 2013; 2: 903-911. : http://dx.doi.org/10.1016/j.nicl.2013.06.010
- Felgentreff K, Perez-Becker R, Speckmann C, Schwarz K, Kalwak K, Markelj G, Avcin T, Qasim W, Davies EG, Niehues T, Ehl S: Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency. Clin Immunol, 2011; 141 (1): 73-82. : http://dx.doi.org/10.1016/j.clim.2011.05.007
- Felgentreff K, Schupp W, Otten JE, Ruckauer KD, Uhl M, Juttner E, Superti-Furga A, Pohl M: Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue. Eur J Pediatr, 2009; 168 (9): 1141-1145. : http://dx.doi.org/10.1007/s00431-008-0887-7
- Felgentreff K, Schupp W, Otten JE, Rückauer KD, Uhl M, Jüttner E, Superti-Furga A*, Pohl M: Inspiratory stridor and dysphagia in two newborn infants caused by ectopic thymus tissue
Eur J Pediatr, 2008. (in Druck)
- Ferastraoaru V, Schulze-Bonhage A, Lipton RB, Dumpelmann M, Legatt AD, Blumberg J, Haut SR: Termination of seizure clusters is related to the duration of focal seizures. Epilepsia, 2016; 57 (6): 889-895. : http://dx.doi.org/10.1111/epi.13375
- Fernandez-Aguilar S, Noel JC, Van Regemorter N, Superti-Furga A, Bonafe L, Donner C: Diagnosis of atelosteogenesis type II after a routine echography at 12 weeks' pregnancy. Prenatal Diag, 2005; 25 (8): 717-718.
- Ferreiros N, Dresen S, Hermanns-Clausen M, Auwaerter V, Thierauf A, Muller C, Hentschel R, Trittler R, Skopp G, Weinmann W: Fatal and severe codeine intoxication in 3-year-old twins-interpretation of drug and metabolite concentrations. Int J Legal Med, 2009; 123 (5): 387-394. : http://dx.doi.org/10.1007/s00414-009-0340-0
- Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelecic J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kalwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Krivan G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR: Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. J Allergy Clin Immun, 2019. : http://dx.doi.org/10.1016/j.jaci.2018.12.1010 (in Druck)
- Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelecic J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kalwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Krivan G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR: Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. J Allergy Clin Immun, 2019; 143 (6): 2238-2253. : http://dx.doi.org/10.1016/j.jaci.2018.12.1010
- Feske S, Müller JM, Graf D, Kroczek RA, Dräger R, Niemeyer C, Baeuerle PA, Peter HH, Schlesier M: Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T Cells in T lymphocytes of two male siblings. Eur. J. Immunol., 1996; 26: 2119-2126.
- Feuerstein R, Seidl M, Prinz M, Henneke P: MyD88 in macrophages is critical for abscess resolution in staphylococcal skin infection. J Immunol, 2015; 194 (6): 2735-2745. : http://dx.doi.org/10.4049/jimmunol.1402566
- Fiehn C, Max R, Blank N, Schneider A, Schneider R, Maier SK, Becher J, Nordbeck P, Jakob AH: [In Process Citation]. Med Klin, 2010; 105 (1): 53-62. : http://dx.doi.org/10.1007/s00063-010-1006-x
- Fietzek U, Heinen F, Berweck S, Maute S, Hufschmidt A, Schulte-Mönting J, Lücking C, Korinthenberg R: Development of the corticospinal system and hand motor function: central conduction times and motor performance tests Dev Med Child Neurol, 2000; 42: 220-227.
- Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC: Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy. New Engl J Med, 2017; 377 (18): 1723-1732. : http://dx.doi.org/10.1056/NEJMoa1702752
- Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T: Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disord, 2018; 28 (3): 197-207. : http://dx.doi.org/10.1016/j.nmd.2017.11.004
- Finkel RS, Sejersen T, Mercuri E: 218th ENMC International Workshop:: Revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Neuromuscular Disord, 2017; 27 (6): 596-605. : http://dx.doi.org/10.1016/j.nmd.2017.02.014
- Fioredda F, Iacobelli S, Korthof ET, Knol C, van Biezen A, Bresters D, Veys P, Yoshimi A, Fagioli F, Mats B, Zecca M, Faraci M, Miano M, Arcuri L, Maschan M, O'Brien T, Diaz MA, Sevilla J, Smith O, Peffault de Latour R, de la Fuente J, Or R, Van Lint MT, Tolar J, Aljurf M, Fisher A, Skorobogatova EV, Diaz de Heredia C, Risitano A, Dalle JH, Sedlacek P, Ghavamzadeh A, Dufour C: Outcome of haematopoietic stem cell transplantation in dyskeratosis congenita. Brit J Haematol, 2018; 183 (1): 110-118. : http://dx.doi.org/10.1111/bjh.15495
- Fischer CB, Sontheimer D, Scheffer F, Bauer J, Linderkamp O: Cardiorespiratory stability of premature boys and girls during kangaroo care Early Hum. Dev., 1998; 52 (2): 145-153.
- Fischer Ch, Bauer J, Sontheimer D, Linderkamp O: Die Känguruhpflege Frühgeborener. Stand der Forschung und Erfahrungen in Heidelberg Pädiatr. Praxis, 1997; 52: 609-618.
- Fischer KG, Sutor AH: Hirudin. Semin Thromb Hemost, 2002; 28 (5): 403-404.
- Fischer S, Huemer M, Baumgartner M, Deodato F, Ballhausen D, Boneh A, Burlina, AB, Cerone R, Garcia P, Gökçay G, Grünewald S, Häberle J, Jaeken J, Ketteridge D,, Lindner M, Mandel H, Martinelli D, Martins EG, Schwab KO,, Gruenert SC,, Schwahn BC, Sztriha L, Tomaske M, Trefz F, Vilarinho L, Rosenblatt DS, Fowler B,, Dionisi-Vici C: Clinical presentation and outcome in a series of 88 patients with the cblC defect. J Inherit Metab Dis, 2014; 37 (5): 831-840. : http://doi: 10.1007/s10545-014-9687-6
- Flaquer A, Heinzmann A, Rospleszcz S, Mailaparambil B, Dietrich H, Strauch K, Grychtol R: Association study of mitochondrial genetic polymorphisms in asthmatic children. Mitochondrion, 2014; 14: 49-53. : http://dx.doi.org/10.1016/j.mito.2013.11.002
- Flechtner-Mors M, Schwab KO, Frohlich-Reiterer EE, Kapellen TM, Meissner T, Rosenbauer J, Stachow R, Holl RW: Overweight and Obesity Based on Four Reference Systems in 18,382 Paediatric Patients with Type 1 Diabetes from Germany and Austria. J Diabetes Res, 2015; 2015 (online): 370753. : http://dx.doi.org/10.1155/2015/370753
- Flechtner-Mors M, Thamm M, Wiegand S, Reinehr T, Schwab KO, Kiess W, Widhalm K, Holl RW: Comorbidities Related to BMI Category in Children and Adolescents: German/Austrian/Swiss Obesity Register APV Compared to the German KiGGS Study Horm Res Paediat, 2012; 77 (1): 19-26. : http://dx.doi.org/10.1159/000334147
- Fleck T, Benk C, Klemm R, Kroll J, Siepe M, Grohmann J, Hohn R, Humburger F, Beyersdorf F, Stiller B: First serial in vivo results of mechanical circulatory support in children with a new diagonal pump. Eur J Cardio-thorac, 2013; 44 (5): 828-835. : http://dx.doi.org/10.1093/ejcts/ezt427
- Fleck T, Schubert S, Ewert P, Stiller B, Nagdyman N, Berger F: Propofol Effect on Cerebral Oxygenation in Children with Congenital Heart Disease. Pediatr Cardiol, 2015; 36 (3): 543-549. : http://dx.doi.org/10.1007/s00246-014-1047-7
- Fleck T, Schubert S, Redlin M, Stiller B, Ewert P, Berger F, Nagdyman N: Influence of external cardiac pacing on cerebral oxygenation measured by Pediatr Anesth, 2010; 20 (6): 553-558. : http://dx.doi.org/10.1111/j.1460-9592.2010.03317.x
- Fleck T, Schubert S, Stiller B, Redlin M, Ewert P, Nagdyman N, Berger F: Capability of a new paediatric oesophageal Doppler monitor to detect changes in cardiac output during testing of external pacemakers after cardiac surgery. JOURNAL OF CLINICAL MONITORING AND COMPUTING, 2011; 25 (6): 419-425. : http://dx.doi.org/10.1007/s10877-011-9322-0
- Fleck TP, Dangel G, Bachle F, Benk C, Grohmann J, Kroll J, Siepe M, Hohn R, Kirschner J, Beyersdorf F, Stiller B: Long-Term Follow-Up on Health-Related Quality of Life After Mechanical Circulatory Support in Children. Pediatr Crit Care Me, 2017; 18 (2): 176-182. : http://dx.doi.org/10.1097/PCC.0000000000001019
- Fleck TP, Dangel G, Bachle F, Benk C, Grohmann J, Kroll J, Siepe M, Hohn R, Kirschner J, Beyersdorf F, Stiller B: Long-Term Follow-Up on Health-Related Quality of Life After Mechanical Circulatory Support in Children. Pediatr Crit Care Me, 2017; 18 (2): 176-182. : http://dx.doi.org/10.1097/PCC.0000000000001019
- Fliegauf M, Frohlich C, Horvath J, Olbrich H, Hildebrandt F, Omran H: Identification of the human CYS1 gene and candidate gene analysis in Boichis disease. Pediatr Nephrol, 2003; 18: 498-505.
- Fliegauf M, Horvath J, von Schnakenburg C, Olbrich H, Muller D, Thumfart J, Schermer B, Pazour GJ, Neumann HP, Zentgraf H, Benzing T, Omran H: Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol, 2006; 17 (9): 2424-2433.
- Fliegauf M, Horvath J, von Schnakenburg C, Olbrich H, Muller D, Thumfart J, Schermer B, Pazour G.J., Neumann H.P., Zentgraf H, Benzing T, Omran H: Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia J Am Soc Nephrol, 2006; 17: 2424-2433.
- Fliegauf M, Kahle A, Häffner K, Zieger B: Distinct localization of septin proteins to ciliary sub-compartments in airway epithelial cells. Biol Chem, 2014; 395 (2): 151-156. : http://dx.doi.org/10.1515/hsz-2013-0252
- Fliegauf M, Kahle A, Häffner K, Zieger B: Distinct localization of septin proteins to ciliary sub-compartments in airway epithelial cells. Biol Chem, 2014; 395 (2): 151-156. : http://dx.doi.org/10.1515/hsz-2013-0252
- Fliegauf M, Omran H: Novel tools to unravel molecular mechanisms in cilia-related disorders Trends Genet, 2006; 22: 241-245.
- Fliegauf M, Sonnen AF, Kremer B, Henneke P: Mucociliary clearance defects in a murine in vitro model of pneumococcal airway infection. Plos One, 2013; 8 (3) (online): e59925. : http://dx.doi.org/10.1371/journal.pone.0059925
- Fliegauf M., Olbrich H., Horvath J., Wildhaber J.H., Zariwala M.A., Kennedy M., Knowles M.R., Omran H.: Mislocalization of DNAH5 and DNAH9 in respiratory cells from primary ciliary dyski-nesia patients. :1343-1349, 2005 Am J Resp Crit Care, 2005; 171: 1343-1349.
- Florian Belzer,, Stefan Schmidt,, Gabriele Lucius-Hoene,, Johann F. Schneider,, Claudia L. Orellana-Rios,, Sebastian Sauer: Challenging the Construct Validity of Mindfulness
Assessment—a Cognitive Interview Study of the Freiburg
Mindfulness Inventory Mindfulness, 2012. (in Druck)
- Flotho C: Gene mutations do not operate in a vacuum: the increasing importance of epigenetics in juvenile myelomonocytic leukemia. Epigenetics, 2019; 14 (3): 236-244. : http://dx.doi.org/10.1080/15592294.2019.1583039
- Flotho C, Batz C, Hasle H, Bergstraesser E, van den Heuvel-Eibrink MM, Zecca M, Niemeyer CM, Zenker M: Mutational analysis of SHOC2, a novel Noonan-like gene, in juvenile myelomonocytic leukemia (JMML). Blood, 2010; 115 (4): 913.
- Flotho C, Claus R, Batz C, Schneider M, Sandrock I, Ihde S, Plass C, Niemeyer CM, Lubbert M: The DNA methyltransferase inhibitors azacitidine, decitabine and zebularine exert differential effects on cancer gene expression in acute myeloid leukemia cells. Leukemia, 2009; 23 (6): 1019-1028. : http://dx.doi.org/10.1038/leu.2008.397
- Flotho C, Coustan-Smith E, Pei D, Cheng C, Song G, Pui HC, Downing JR, Campana D: A set of genes that regulate cell proliferation predict treatment outcome in childhood acute lymohoblastic leukemia. Blood, 2007; 110: 1271-1277.
- Flotho C, Coustan-Smith E, Pei D, Iwamoto S, Song G, Cheng C, Pui CH, Downing JR, Campana D: Genes contributing to minimal residual disease in childhood acute lymphoblastic leukemia: prognostic significance of CASP8AP2. Blood, 2006; 108 (3): 1050-1057.
- Flotho C, Kratz CP, Bergstrasser E, Hasle H, Stary J, Trebo M, van den Heuvel-Eibrink MM, Wojcik D, Zecca M, Locatelli F, Niemeyer CM: Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations. Blood, 2008; 111 (2): 966-7; author reply 967. : http://dx.doi.org/10.1182/blood-2007-09-111831
- Flotho C, Paulun A, Batz C, Niemeyer CM: AKAP12, a gene with tumour suppressor properties, is a target of promoter DNA methylation in childhood myeloid malignancies. Brit J Haematol, 2007; 138 (5): 644-650. : http://dx.doi.org/10.1111/j.1365-2141.2007.06709.x
- Flotho C, Ruckauer K, Duffner U, Bergstasser E, Bohm N, Niemeyer CM: Mucinous cystadenoma of the ovary in a 15-year-old girl. J Pediatr Surg, 2001; 36 (6): E6-E6.
- Flotho C, Steinemann D, Mullighan CG, Neale G, Mayer K, Kratz CP, Schlegelberger B, Downing JR, Niemeyer CM: Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. Oncogene, 2007; 26 (39): 5816-5821. : http://dx.doi.org/10.1038/sj.onc.1210361
- Flotho C, Strahm B, Kontny U, Duffner U, Peters AM, Dupuis W, Niemeyer CM: Stem cell transplantation for paroxysmal nocturnal haemoglobinuria in childhood. Brit J Haematol, 2002; 118 (1): 124-127.
- Flotho C, Valcamonica S, Mach-Pascual S, Schmahl G, Corral L, Ritterbach J, Hasle H, Arico M, Biondi A, Niemeyer CM: RAS mutations and clonality analysis in children with juvenile myelomonocytic leukemia (JMML). Leukemia, 1999; 13 (1): 32-37.
- Flotho C, Vraetz T, Lang P, Niemeyer CM, Strahm B: Successful double umbilical cord blood transplantation for relapsed juvenile myelomonocytic leukemia Leukemia, 2013; 27 (4): 988-989. : http://dx.doi.org/10.1038/leu.2012.273
- Flotho C., Valcamonica S., Mach-Pascual S., Schmahl G., Corral L., Ritterbach J., Hasle H., Aricó M., Biondi A., Niemeyer C.: Ras mutations and clonality analysis in children with juvenile myelomonocytic leukemia. Leukemia, 1999; 13: 32-37.
- Fluegge K, Adams B, Luetke Volksbeck U, Serr A, Henneke P, Berner R: Low prevalence of methicillin-resistant Staphylococcus aureus (MRSA) in a southwestern region of Germany. Eur J Pediatr, 2006; 165 (10): 688-690.
- Fluegge K, Adams B, Luetke Volksbeck U, Serr A, Henneke P, Berner R: Low prevalence of methicillin-resistant Staphylococcus aureus (MRSA) in a southwestern region of Germany. Eur J Pediatr, 2006; 165 (10): 688-690. : http://dx.doi.org/10.1007/s00431-006-0159-3
- Fluegge K, Greiner P, Berner R: Late-onset group B streptococcal disease manifested by isolated cervical lymphadenitis Arch Dis Child, 2003; 88: 2019-2020.
- Fluegge K, Siedler A, Heinrich B, Schulte-Moenting J, Moennig MJ, Bartels DB, Dammann O, von Kries R, Berner R: Incidence and clinical presentation of invasive neonatal group B streptococcal infections in Germany Pediatrics, 2006; 117: 1139-1145.
- Fluegge K, Supper S, Siedler A, Berner R: Serotype distribution of invasive Group B Streptococcal isolates in neonates: results from a nationwide active laboratory surveillance study over 2 years in Germany Clin Infect Dis, 2005; 40: 760-763.
- Fluegge K,, Wons J, Spellerberg B, Swoboda S, Siedler A, Hufnagel M, Berner R: Genetic differences between invasive and non-invasive neonatal Group B Streptococcal (GBS) isolates Pediatr Infect Dis J, 2011; 30: 1027-1031.
- Fluegge Kirsten, Schweier O, Schiltz Emile, Batsford Steve, Berner Reinhard: Identification and immunoreactivity of proteins released from Streptococcus agalactiae Eur J Clin Microbiol, 2004; 23: 818-824.
- Fluegge Kirsten, Supper Sven, Siedler Anette, Berner Reinhard: Antibiotic susceptibility in neonatal invasive isolates of Streptococcus agalactiae from a nationwide surveillance study in Germany over 2 years Antimicrob Agents Ch, 2004; 48: 4444-4446.
- Fluhr S, Boerries M, Busch H, Symeonidi A, Witte T, Lipka DB, Mucke O, Nollke P, Krombholz CF, Niemeyer CM, Plass C, Flotho C: CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia. Clin Epigenetics, 2016; 8: 50-50. : http://dx.doi.org/10.1186/s13148-016-0216-3
- Fluhr S, Krombholz CF, Meier A, Epting T, Mucke O, Plass C, Niemeyer CM, Flotho C: Epigenetic dysregulation of the erythropoietic transcription factor KLF1 and the Epigenetics, 2017; 12 (8): 715-723. : http://dx.doi.org/10.1080/15592294.2017.1356959
- Forlino A, Gualeni B, Pecora F, Torre SD, Piazza R, Tiveron C, Tatangelo L, Superti-Furga A, Cetta G, Rossi A: Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. Novartis Found Symp, 2006; 273: 193-206.
- Forlino A, Piazza R, Tiveron C, Della Torre S, Tatangelo L, Bonafe L, Gualeni B, Romano A, Pecora F, Superti-Furga A, Cetta G, Rossi A: A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Hum Mol Genet, 2005; 14 (6): 859-871.
- Forster J, Guarino A, Parez N, Moraga F, Román E, Mory O, Tozzi AE, de Aguileta AL, Wahn U, Graham C, Berner R, Ninan T, Barberousse C, Meyer N, Soriano-Gabarró M, the Rotavirus Study Group: Hospital-based surveillance to estimate the burden of rotavirus gastroenteritis among European children younger than 5 years of age. Pediatrics, 2009; 123 (3): e393-e400. : http://dx.doi.org/10.1542/peds.2008-2088
- Forster J, Kühr J, Hauk P, Schwab O, Urbanek R: Stichprovokationen bei Kindern mit Insektengift-Allergien. Allergologie, 1996; 19: 330-333.
- Forster J, Maier O, Löbbert J, Kaufmehl K, Streckert HJ, Werchau H: Prevalence of antibodies against Hep-2 Cella antigen in infants and children hospitalized with respiratory syndcytial virus infection. Infection, 1996; 24, Nr. 6.
- Forster J, Schweizer M, Schumacher RF, Kaufmehl K, Lob S: MxA protein in infants and children with respiratory tract infections. Acta Paediatr., 1996; 85: 163-167.
- Forster J, Tacke U, Krebs H, Streckert HJ, Werchau H, Bergmann RL, Schulz J, Lau S, Wahn U: The respiratory syncytial virus infection: its role in aeroallergen sensitization during the first two ears of life. Pediatr. Allergy Immun., 1996; 7: 55-60.
- Forster J., Schumacher R.F: The clinical picture presented by preterm neonates infected with repiratory syncytial virus. Eur. J. Pediatr., 1995; 154: 901-905.
- Forster J., Streckert H.-J., Werchau H.: The humoral immune response of children and infants to a RSV infection: its maturation and association with illness. Klin Pädiatrie, 1995; 207: 313-316.
- Forster J., Tacke U., Krebs H., Streckert H.J., Werchau H., Bergmann R.L., Schulz J., Lau S., Wahn U.: Respiratory syncytial virus infection: its role in aeroallergen sensitization during the first two years of life. Pediatr. Allergy Immunol., 1996; 7: 55-60.
- Forster J. Tacke U., Krebs H., Streckert H.J., Werchau H., Bergmann R.L., Schulz J., Lau S., Wahn U.: Respiratory syncytial virus infection: its role in aeroallergen sensitization during the first two years of life. Pediatr. Allergy Immunol., 1999; 7: 55-60.
- Forster Johannes, Ihorst Gabriele, Rieger Christian HL, Volker Stephan, Frank Hans Dieter, Gurth Heidrun, Berner Reinhard, Rohwedder Angela, Werchau Hermann, Schumacher Martin, Tsai Theodore, Petersen Gudula: Prospective population-based study of viral lower respiratory tract infections in children under three years (the PRI.DE study). Eur J Pediatr, 2004; 163: 709-716.
- Forzano F, Lituania M, Viassolo A, Superti-Furga F, Wildhardt G, Zabel B, Faravelli F: A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A, 2007; 143 (23): 2815-2820.
- Foster PS, Mould AW, Yang M, Mackenzie J, Mattes J, Hogan SP, Mahalingam S, Mckenzie AN, Rothenberg ME, Young IG, Matthaei KI, Webb DC.: Elemental signals regulating eosinophil accumulation in the lung. Immunol Rev, 2001; 179: 173-181.
- Fotsis T, Breit S, Lutz W, Rossler J, Hatzi E, Schwab M, Schweigerer L: Down-regulation of endothelial cell growth inhibitors by enhanced MYCN oncogene expression in human neuroblastoma cells. Eur J Biochem, 1999; 263 (3): 757-764.
- Fourie E, Erasmus E, Swarts JC, Jakob A, Lang H, Joone GK, VAN Rensburg CE: Cytotoxicity of ferrocenyl-ethynyl phosphine metal complexes of gold and platinum. Anticancer Res, 2011; 31 (3): 825-829.
- Fourie E, Erasmus E, Swarts JC, Tuchscherer A, Jakob A, Lang H, Joone GK, Van Rensburg CE: Cytotoxicity of hydrophylic silver carboxylato complexes. Anticancer Res, 2012; 32 (2): 519-522.
- Francis RJ,, Chatterjee B,, Loges NT,, Zentgraf H,, Omran H,, Lo CW: Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway. Am J Physiol-lung C, 2009; 296 (6): 1067-1075.
- Franck P, Duffner U, Schulze-Seemann W, Riede U, Dordelmann M, Niemeyer CM: Testicular relapse after 13 years of complete remission of acute lymphoblastic leukemia. Urol Int, 1998; 60 (4): 239-241.
- Franck P, Duffner U, Schulze-Seeman W, Riede U, Dördelmann M, Niemeyer CM: Testicular relapse after 13 years of complete remission for acute lymphoblastic leukemia. Urologia internationalis, 1998; 60: 239-241.
- Frankenschmidt A, Pohl M, Zimmerhackl LB, Sommerkamp H: Coincidence of two rarities: patent umbilical artery causing infant ureteral obstruction and ureteral xanthine calculus. Urologia Internationalis, 1997; 58: 189-191.
- Frankenschmidt A, Zimmerhackl LB, Sommerkamp H: Endoscopic treatment of reflux by subureteric collagen injection: a critical review of five-yeras experience. J Endourology, 1997; 11: 343-348.
- Franz F, Angerer V, Hermanns-Clausen M, Auwarter V, Moosmann B: Metabolites of synthetic cannabinoids in hair-proof of consumption or false friends for interpretation? Anal Bioanal Chem, 2016; 408 (13): 3445-3452. : http://dx.doi.org/10.1007/s00216-016-9422-2
- Frese M, Weeber M, Weber F, Speth V, Haller O: Mx1 sensitivity: Batken virus is an orthomoyxovirus closely related to Dhori virus J. Gen. Virol., 1997; 78 (Pt 10): 2453-2458.
- Freudenberg F, Wintergerst U, Roesen-Wolff A, Albert MH, Prell C, Strahm B, Koletzko S, Ehl S, Roos D, Tommasini A, Ventura A, Belohradsky BH, Seger R, Roessler J, Güngör T: Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. J Allergy Clin Immun, 2010; 125 (4): 943-946.e1.. : http://dx.doi.org/10.1016/j.jaci.2010.01.035
- Freunscht I, Popp B, Blank R, Endele S, Moog U, Petri H, Prott EC, Reis A, Rubo J, Zabel B, Zenker M, Hebebrand J, Wieczorek D: Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene. Behav Brain Funct, 2013; 9 (1): 20-20. : http://dx.doi.org/10.1186/1744-9081-9-20
- Frey S, Krempl CD, Schmitt-Graff A, Ehl S: Role of T cells in virus control and disease after infection with pneumonia virus of mice. J Virol, 2008; 82 (23): 11619-11627. : http://dx.doi.org/10.1128/JVI.00375-08
- Frischer T, Halmerbauer G, Gartner C, Rath R, Tauber E, Schierl M, Koller DY, Urbanek R, Forster J, Kuhr J: Eosinophil-derived proteins in nasal lavage fluid of neonates of allergic parents and the development of respiratory symptoms during the first 6 months of life. Collaborative SPACE team. Study on the Prevention of Allergy in Children in Europe Allergy, 2000; 55 (8): 773-777.
- Frischer T, Pullwitt A, Kühr J, Meinert R, Haschke N: Aromatic hydroxylation in nasal fluid following ambient ozone exposure. Free Radical Biol Med, 1997; 22: 201-207.
- Frischer T., R. Meinert, R. Urbanek, J. Kuehr: Variability of peak expiratory flow rate in children: short and long term reproducibility. Thorax, 1995; 50: 35-9..
- Frischer T., Studnicka M., Gartner C., Tauber E., Horak F., Veiter A., Spengler J., Kuehr J., Urbanek R.: Lung function growth and ambient ozone: a three-year population study in school children Am. Journal of Respir. Crit. Care Med., 1999; 160: 390-396.
- Froesch ER, Burgi H, Muller WA, Humbel RE, Jakob A, Labhart A: Nonsuppressible insulinlike activity of human serum: purification, physiochemical and biological properties and its relation to total serum ILA. Recent Prog Horm Res, 1967; 23: 565-616.
- Froesch ER, Jakob A, Zahnd GR, Simon E: Immunoreactive insulin, suppressible, and non suppressible insulinlike activities in rats after administration of glucose and induction of hyperglycaemia by mannoheptulose. Diabetologia, 1966; 2 (4): 265-268.
- Froesch ER, Waldvogel M, Meyer UA, Jakob A, Labhart A: Effects of 5-methylpyrazole-3-carboxylic acid on adipose tissue. II. Antilipolytic and hypoglycemic effects in vivo. Mol Pharmacol, 1967; 3 (5): 442-452.
- Froesch ER, Waldvogel M, Meyer UA, Jakob A, Labhart A: Effects of 5-methylpyrazole-3-carboxylic acid on adipose tissue. I. Inhibition of lipolysis, effects on glucose, fructose, and glycogen metabolism in vitro and comparison with insulin. Mol Pharmacol, 1967; 3 (5): 429-441.
- Frommer A, Hjeij R, Loges NT, Edelbusch C, Jahnke C, Raidt J, Werner C, Wallmeier J, Grosse-Onnebrink J, Olbrich H, Cindric S, Jaspers M, Boon M, Memari Y, Durbin R, Kolb-Kokocinski A, Sauer S, Marthin JK, Nielsen KG, Amirav I, Elias N, Kerem E, Shoseyov D, Häffner K, Omran H: Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. Am J Resp Cell Mol, 2015; 53 (4): 563-573. : http://dx.doi.org/10.1165/rcmb.2014-0483OC
- Fruhwirth M, Heininger U, Ehlken B, Petersen G, Laubereau B, Moll-Schuler I, Mutz I, Forster J.: International variation in disease burden of rotavirus gastroenteritis in children with community- and nosocomially acquired infection. Pediatr Infect Dis J, 2001; 8: 784-791.
- Frydrychowicz A, Arnold R, Harloff A, Schlensak C, Hennig J, Langer M, Markl M: Images in cardiovascular medicine. In vivo 3-dimensional flow connectivity mapping after extracardiac total cavopulmonary connection. Circulation, 2008; 118 (2): e16-e17. : http://dx.doi.org/10.1161/CIRCULATIONAHA.107.761304
- Frydrychowicz A, Arnold R, Hirtler D, Schlensak C, Stalder AF, Hennig J, Langer M, Markl M: Multidirectional flow analysis by cardiovascular magnetic resonance in aneurysm development following repair of aortic coarctation. J Cardiovasc Magn R, 2008; 10 (1) (online): 30. : http://dx.doi.org/10.1186/1532-429X-10-30
- Frydrychowicz A, Bley TA, Dittrich S, Hennig J, Langer M, Markl M: Visualization of Vascular Hemodynamics in a Case of a large Patent Ductus Arteriosus Using Flow Sensitive 3D CMR at 3T J Cardiovasc Magn R, 2007; 9: 585-587.
- Frydrychowicz A, Markl M, Hirtler D, Harloff A, Schlensak C, Geiger J, Stiller B, Arnold R: Aortic hemodynamics in patients with and without repair of aortic coarctation: in vivo analysis by 4D flow-sensitive magnetic resonance imaging. Invest Radiol, 2011; 46 (5): 317-325. : http://dx.doi.org/10.1097/RLI.0b013e3182034fc2
- Fuchs H, Rossmann N, Schmid MB, Hoenig M, Thome U, Mayer B, Klotz D, Hummler HD: Permissive hypercapnia for severe acute respiratory distress syndrome in immunocompromised children: A single center experience. Plos One, 2017; 12 (6) (online): e0179974-e0179974. : http://dx.doi.org/10.1371/journal.pone.0179974
- Fuchs H, Schoss J, Mendler MR, Lindner W, Hopfner R, Schulz A, Hoenig M, Steinbach D, Debatin KM, Hummler HD, Schmid M: The Cause of Acute Respiratory Failure Predicts the Outcome of Noninvasive Ventilation in Immunocompromised Children. Klin Padiatr, 2015; 227 (6-07): 322-328. : http://dx.doi.org/10.1055/s-0034-1395692
- Fuchshuber A, Gribouval O, Ronner V, Kroiss S, , Karle S, Brandis M, Hildebrandt F: Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J Am Soc Nephrol, 2001; 12 (2): 374-378.
- Fuchshuber A, Hildebrandt F, Brandis M: Genetik hereditärer Nierenerkrankungen. Der Kinderarzt, 1997; 28: 787-796.
- Fuchshuber A, Janssen F, Niaudet P, Gribouval O, Kamoun A, Antignac C: Presymptomatic diagnosis of familial steroid-resistant nephrotic syndrome by segregation analysis. Lancet, 1996; 347: 1050-1051.
- Fuchshuber A, Kroiss S, Karle S, Berthold S, Huck K, , Burton C, Rahman N, Koptides M, Deltas C, Otto E, Rüschendorf F, Feest T, Hildebrandt F: Refinement of the Gene Locus for Autosomal Dominant Medullary Cystic Kidney Disease Type 1 (MCKD1) and Construction of a Physical and Partial Transcriptional Map of the Region. Genomics, 2001; 72: 278-284.
- Fuchshuber A, Kühnemund O, Keuth B, Lütticken R, Michalk D, Querfeld U: Pneumococcal vaccine in children and young adults with chronic renal disease. Nephrol. Dial. Transpl., 1996; 11: 468-473.
- Fuchshuber A, Mucha B, Baumgartner ER, Vollmer M, Hildebrandt F.: mut° Methylmalonic Acidemia: Eleven novel mutations of the Methylmalonyl CoA Mutase including an deletion-insertion mutation. Hum Mutat, 2000; 16: 179.
- Fuchshuber A, Niaudet P, Gribouval O, Jean G, Gubler MC, Broyer M, Antignac C: Congenital nephrotic syndrome of the finnish type (CNF): Linkage to the CNF locus in a non-finnish population. Pediatr. Nephrol., 1996; 10: 135-138.
- Fuchshuber A, Querfeld U, Michalk D: Hereditäre Nierenerkrankungen. Der Kinderarzt, 1996; 27: 356-365.
- Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Harties L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheunk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S: Patients with T+ /low NK+ IL-2 receptor ʏ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency. Eur J Immunol, 2014; 44 (10): 3129-3140. : http://dx.doi.org/10.1002/eji.201444689
- Fuchs S, Rensing-Ehl A, Pannicke U, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Kruger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K, Ehl S: Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. Blood, 2015; 126 (14): 1658-1669. : http://dx.doi.org/10.1182/blood-2015-03-631374
- Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, Maul-Pavicic A,, Bass T, Vraetz T, Strahm B, Ankermann T, Benson M, Caliebe A, Fölster-Holst R, Kaiser P, Thimme R, Schamel WW, Schwarz K, Feske S, Ehl S: Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol, 2012; 188 (3): 1523-1533. : http://dx.doi.org/10.4049/jimmunol.1102507
- Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, Maul-Pavicic A, Bass T, Vraetz T, Strahm B, Ankermann T, Benson M, Caliebe A, Fölster-Holst R, Kaiser P, Thimme R, Schamel WW, Schwarz K, Feske S, Ehl S: Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol, 2012; 188 (3): 1523-1533. : http://dx.doi.org/10.4049/jimmunol.1102507
- Fuchs S*, Rensing-Ehl A*, Pannicke U*, Lorenz MR, Fisch P, Jeelall Y, Rohr J, Speckmann C, Vraetz T, Farmand S, Schmitt-Graeff A, Kruger M, Strahm B, Henneke P, Enders A, Horikawa K, Goodnow C, Schwarz K*, Ehl S*: Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. Blood, 2015; 126 (14): 1658-1669. : http://dx.doi.org/10.1182/blood-2015-03-631374
- Fuchsuber A, Deltas C, Berthold S, Stavrou C, Vollmer B, Burton C, Feest T, Krieter D, Gal A, Brandis M, Pierides A, Hildebrandt F: Autosomal dominant medullary cystic kidney disease: evidence of gene locus heterogeneity. Nephrol Dial Transplant, 1998; 13: 1955-1957.
- Führer D., Mix M., Willgeroth H., Holzapfel H.P., Petrykowski W.v.: Autosomal dominant nonautoimmune hyperthyroidism.
Clinical features - diagnosis - therapy. Exp. Clin. Endocirnol. Diabetes, 1998; 106 (Suppl. 4): 10-15.
- Führer M, Burdach S, Ebell W, Gadner H, Haas R, Harbott J, Janka-Schaub G, Klingebiel T, Kremens B, Niemeyer C, Rampf U, Reiter A, Ritter J, Schulz A, Walther U, Zeidler C, Bender-Götz C: Relapse and clonal disease in children with aplastic anemia (AA) after immunosuppressive therapy (IST): The SAA 94 Experience Klin Pädiatr, 1998; 210: 173-179.
- Führer M, Rampf U, Baumann I, Faldum A, Niemeyer CM, Janka-Schaub G, Friedrich W, Ebell W, Borkhardt A, Bender-Götze C, for the German/Austrian Aplastic Anemia Working Group: Immunosuppressive therapy for aplastic anemia in children: a more severe disease predicts better survival Blood, 2005; 106 (6): 2102-2104.
- Fujita H, Hashimoto Y, Russel S, Zieger B, Ware J: In vivo expression of murine platelet glycoprotein Ib-alpha- Blood, 1998; 92: 488-495.
- Fukada T, Civic N, Furuichi T, Shimoda S, Mishima K, Higashiyama H, Idaira Y, Asada Y, Kitamura H, Yamasaki S, Hojyo S, Nakayama M, Ohara O, Koseki H,, Dos Santos HG, Bonafe L, Ha-Vinh R, Zankl A, Unger S, Kraenzlin ME, Beckmann JS, Saito I, Rivolta C, Ikegawa S, Superti-Furga A, Hirano T.: The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways PLoS ONE., 2008; 3 (11): e3642.
- Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Baric I, Zabot MT, Kondo N: Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Bba-mol Basis Dis, 2011; 1812 (5): 619-624. : http://dx.doi.org/10.1016/j.bbadis.2011.01.015
- Funke A, Berner R, Schmeisser B, Tawfeek M, Leititis, JU, Niemeyer CM: Charakterisierung der Neutropenie bei neonataler Sepsis. Klin Pädiatr, 1994; 206: 142.
- Funke A, Berner R, Traichel B, Schmeisser D, Leititis JU, Niemeyer CM: Frequency, natural course and outcome of neonatal neutropenia. Pediatrics, 2000; 106: 45-51.
- Funke A, Berner R, Traichel B, Schmeisser D, Leititis JU, Niemeyer CM: Frequency, natural course, and outcome of neonatal neutropenia. Pediatrics, 2000; 106 (1 Pt 1): 45-51.
- Furniss HE, Kubicki R, Stiller B, Reineker K, Siepe M, Grohmann J: Retrograde transcatheter aortic valve closure in an infant with failing Norwood stage I palliation: a case report. J Med Case Rep, 2019; 13 (1): 217-217. : http://dx.doi.org/10.1186/s13256-019-2141-5
- Furuichi T, Kayserili H, Hiraoka S, Nishimura G, Ohashi H, Alanay Y, Lerena JC, Aslanger AD, Koseki H, Cohn DH, Superti-Furga A, Unger S, Ikegawa S: Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. J Med Genet, 2009; 46 (8): 562-568. : http://dx.doi.org/10.1136/jmg.2008.065201
- Gaal J *, van Nederveen FH *, Erlic Z *, Korpershoek E, Oldenburg R, Boedeker CC, Kontny U, Neumann HP *, Dinjens WN *, de Krijger RR *: Parasympathetic paragangliomas are part of the Von Hippel-Lindau syndrome. J Clin Endocr Metab, 2009; 94 (11): 4367-4371.
- Gamez-Diaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, Morio T, Worth AJ, Blessing J, Van de Veerdonk F, Feuchtinger T, Kanariou M, Schmitt-Graeff A, Jung S, Seneviratne S, Burns S, Belohradsky BH, Rezaei N, Bakhtiar S, Speckmann C, Jordan M, Grimbacher B: The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency. J Allergy Clin Immun, 2016; 137 (1): 223-230. : http://dx.doi.org/10.1016/j.jaci.2015.09.025
- Ganter K, Deichmann KA, Heinzmann A: Association study of polymorphisms within matrix metalloproteinase 9 with bronchial asthma. International journal of immunogenetics, 2005; 32 (4): 233-236.
- Gantert M, Lewrick F, Adrian JE, Rössler J, Steenpass T, Schubert R, Pschka-Süss R: Receptor-specific targeting with liposomes in vitro based on sterol-PEG (1300) anchors. Pharm Res-dord, 2009; 26 (3): 529-538.
- Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G: Mandibuloacral dysplasia type A in childhood. Am J Med Genet A, 2009; 149 (10): 2258-2264. : http://dx.doi.org/10.1002/ajmg.a.33005
- Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A: Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation. Am J Med Genet A, 2011; 155 (2): 332-336. : http://dx.doi.org/10.1002/ajmg.a.33793
- Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A: Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. Am J Med Genet A, 2011; 155A (2): 332-336. : http://dx.doi.org/10.1002/ajmg.a.33793
- Garcia-Angarita N *, Kirschner J *, Heiliger M, Thirion C, Walter MC, Schnittfeld-Acarlioglu S, Albrecht M, Müller K, Wieczorek D, Lochmüller H, Krause S: Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. Neuromuscular Disord, 2009; 19 (7): 481-484.
- Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafe L: The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C, 2012; 160 (3): 217-229. : http://dx.doi.org/10.1002/ajmg.c.31333
- Garvey MA, Mall V: Transcranial magnetic stimulation in children Clin Neurophysiol, 2008; 119 (5): 973-984.
- Gautam S, Kirschnek S, Gentle IE, Kopiniok C, Henneke P, Hacker H, Malleret L, Belaaouaj A, Hacker G: Survival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-beta (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation. Cell Death Differ, 2013; 20 (8): 1068-1079. : http://dx.doi.org/10.1038/cdd.2013.39
- Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs, AH, Sieff CA.: Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for on-19q non-8p disease. Blood, 2001; 97: 2145-2150.
- Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA: Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood, 2001; 97 (7): 2145-2150.
- Gazda HT, Kowalska A, Merida-Long LB, Latawiec E, Schneider H, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer CM, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA: Ribosomal protein S24 gene in mutated in Diamond-Blackfan Anemia. Am J Hum Genet, 2006; 79: 1110-1118.
- Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue ME, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer CM, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH: Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thums in Diamond-Blackfan anemia patients. Am J Hum Genet, 2008; 83: 769-780.
- Gazda HT, Zhong R, Long L, Niewiadomska E, Lipton JM, Ploszynska A, Zaucha JM, Vlachos A, Atsidaftos E, Viskochil DH, Niemeyer CM, Meerpohl JJ, Rokicka-Milewska R, Pospisilova D, Wiktor-Jedrzejczak W, Nathan DG, Beggs AH, Sieff CA: RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Brit J Haematol, 2004; 127 (1): 105-113. : http://dx.doi.org/10.1111/j.1365-2141.2004.05152.x
- Geiger J, Arnold R, Baumann T, Uhl M, Jung BA, Langer M, Markl M: Rare pattern of aortic arch branching in a patient with operated congenital heart disease. J Cardiovasc Med (Hagerstown), 2009; 10 (8): 654-656. : http://dx.doi.org/10.2459/JCM.0b013e32832bca76
- Geiger J, Arnold R, Herzer L, Hirtler D, Stankovic Z, Russe M, Langer M, Markl M: Aortic wall shear stress in Marfan syndrome. Magn Reson Med, 2013; 70 (4): 1137-1144. : http://dx.doi.org/10.1002/mrm.24562
- Geiger J, Hirtler D, Burk J, Stiller B, Arnold R, Jung B, Langer M, Markl M: Postoperative pulmonary and aortic 3D haemodynamics in patients after repair of transposition of the great arteries. Eur Radiol, 2014; 24 (1): 200-208. : http://dx.doi.org/10.1007/s00330-013-2998-4
- Geiger J, Hirtler D, Gottfried K, Rahman O, Bollache E, Barker AJ, Markl M, Stiller B: Longitudinal Evaluation of Aortic Hemodynamics in Marfan Syndrome: New Insights from a 4D Flow Cardiovascular Magnetic Resonance Multi-Year Follow-Up Study. J Cardiovasc Magn R, 2017; 19 (1): 33-44. : http://dx.doi.org/10.1186/s12968-017-0347-5
- Geiger J, Markl M, Herzer L, Hirtler D, Loeffelbein F, Stiller B, Langer M, Arnold R: Aortic flow patterns in patients with Marfan syndrome assessed by flow-sensitive four-dimensional MRI. J Magn Reson Imaging, 2012; 35 (3): 594-600. : http://dx.doi.org/10.1002/jmri.23500
- Geiger J, Markl M, Jung B, Grohmann J, Stiller B, Langer M, Arnold R: 4D-MR flow analysis in patients after repair for tetralogy of Fallot. Eur Radiol, 2011; 21 (8): 1651-1657. : http://dx.doi.org/10.1007/s00330-011-2108-4
- Geiger J, Markl M, Stiller B, Schlensak C, Arnold R: Iatrogenic neonatal type B aortic dissection: comprehensive MRI-based diagnosis and follow-up. Pediatr Radiol, 2011; 41 (10): 1333-1336. : http://dx.doi.org/10.1007/s00247-011-2066-7
- Geiger J, Walter K, Uhl M, Bley TA, Jüttner E, Brink I, Kirschbaum A, Kontny U: Imaging Findings in a 3-year-old Girl with Type III Pleuropulmonary Blastoma. in Vivo, 2007; 21 (6): 1119-1122.
- Geisen U, Heilmann C, Beyersdorf F, Benk C, Berchtold-Herz M, Schlensak C, Budde U, Zieger B: Non-surgical bleeding in patients with ventricular assist devices could be explained by acquired von Willebrand disease. Eur J Cardio-thorac, 2008; 33 (4): 679-684. : http://dx.doi.org/10.1016/j.ejcts.2007.12.047
- Geisen U, Zieger B, Nakamura L, Weis A, Heinz J, Michiels JJ, Heilmann C: Comparison of Von Willebrand factor (VWF) activity VWF: Ac with VWF ristocetin cofactor activity VWF: RCo. Thromb Res, 2014; 134: 246-250.
- Geisen U *, Brehm K *, Trummer G, Berchtold-Herz M, Heilmann C, Beyersdorf F, Schelling J, Schlagenhauf A, Zieger B: Platelet Secretion Defects and Acquired von Willebrand Syndrome in Patients With Ventricular Assist Devices. J Am Heart Assoc, 2018; 7 (2) (online): e006519. : http://dx.doi.org/10.1161/JAHA.117.006519
- Gempel K, von Praun C, Baumkotter J, Lehnert W, Ensenauer R, Gerbitz KD, Bauer MF: Adult" form of muscular carnitine palmitoyltransferase II deficiency: manifestation in a 2-year-old child. Eur J Pediatr, 2001; 160: 548-551.
- Gemperle O, Neuweiler J, Reutter FW, Hildebrandt F, Krapf R: Familial glomerulopathy with giant fibrillar (fibronectin positive) deposits: 15 Yaer follow-up in a large kindred. Am. J. Kidney Dis., 1996; 28: 668-675.
- Gentner S, Laube M, Uhlig U, Yang Y, Fuchs HW, Dreyhaupt J, Hummler HD, Uhlig S, Thome UH: Inflammatory Mediators in Tracheal Aspirates of Preterm Infants Participating in a Randomized Trial of Permissive Hypercapnia. Front Pediatr, 2017; 5: 246-246. : http://dx.doi.org/10.3389/fped.2017.00246
- Genzel-Boroviczény O,, Seidl T,, Rieger-Fackeldey E, Abicht J, Christ F.: Impaired microvascular perfusion improves with increased incubator temperature in preterm infants. Pediatr Res, 2007; 61: 239-242.
- Gerber A, Karch H, Allerberger F, Verweyen HM, Zimmerhackl LB: Clinical course and the role of Shiga toxin-producing Escherichia coli infection in hemolytic-uremic syndrome 1997-2000 in pediatric patients in Germany and Austria: A prospective study. J Infect Dis, 2002; 186: 493-500.
- Gerber A, Kirchhoff-Moradpour AH, Obieglo S, Brandis M, Kirschfink M, Zipfel PF, Goodship JA, Zimmerhackl LB.: Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality. Pediatr Nephrol, 2003; 18: 952-955.
- Gerhardt TM, Schmahl G, Floto C, Rath AV, Niemeyer CM: Expression of the Evi-1 gene in haemotopoietic cells of children with juvenile myelomonocytic leukemia and normal donors. Brit. J. Haematol., 1997; 99: 882-887.
- Gerhardt TM, Schmahl GE, Flotho C, Rath AV, Niemeyer CM: Expression of the Evi-1 gene in haemopoietic cells of children with juvenile myelomonocytic leukaemia and normal donors. Brit J Haematol, 1997; 99 (4): 882-887.
- Germanakis I, Bender C, Hentschel R, Braun K, Dittrich S, Kececioglu D: Hypercontractile heart failure caused by catecholamine therapy in premature neonates. Acta Paediatr, 2003; 92 (7): 836-838.
- Germanakis J, Dittrich S, Schlensak C, Kececioglu D: Ventricular fibrillation in a teenager as first manifestation of anomalous origin of left coronary artery from pulmonary artery Hellenic J Cardiol, 2003; 44: 155-158.
- Germeshausen M, Schulze H, Kratz C, Wilkens L, Repp R, Shannon K, Welte K, Ballmaier M: An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia Leukemia, 2005; 19 (4): 611-617.
- Germing U, Aul C, Niemeyer CM, Haas R, Bennett JM: Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes. Ann Hematol, 2008; 87 (9): 691-699. : http://dx.doi.org/10.1007/s00277-008-0499-3
- Gerner P, Lausch E, Friedt M, Tratzmuller R, Spangenberg C, Wirth S: Hepatitis B virus core promoter mutations in children with multiple J Med Virol, 1999; 59 (4): 415-423.
- Gerner PR, Friedt M, Oettinger R, Lausch E, Wirth S: The hepatitis B virus seroconversion to anti-HBe is frequently associated with HBV genotype changes and selection of preS2-defective particles in chronically infected children. Virology, 1998; 245 (1): 163-172. : http://dx.doi.org/10.1006/viro.1998.9126
- Gharun K, Senges J, Seidl M, Losslein A, Kolter J, Lohrmann F, Fliegauf M, Elgizouli M, Vavra M, Schachtrup K, Illert AL, Gilleron M, Kirschning CJ, Triantafyllopoulou A, Henneke P: Mycobacteria exploit nitric oxide-induced transformation of macrophages into permissive giant cells. Embo Rep, 2017; 18 (12): 2144-2159. : http://dx.doi.org/10.15252/embr.201744121
- Ghosh S, Honscheid A, Duckers G, Ginzel S, Gohlke H, Gombert M, Kempkes B, Klapper W, Kuhlen M, Laws HJ, Linka RM, Meisel R, Mielke C, Niehues T, Schindler D, Schneider D, Schuster FR, Speckmann C, Borkhardt A: Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency. Haematologica, 2017; 102 (2): e69-e72. : http://dx.doi.org/10.3324/haematol.2016.155838
- Gibson KM, Christensen E, Jakobs C, Fowler B, Clarke MA, Hammersen G, Raab K, Kobori J, Moosa A, Vollmer B, Rossier E, Kimberly A, Matern D, Brouwer OB, Finkelstein J, Aksu F, Weber HP, Bakkeren JAJM, Gabreels FJM, Bluestone D: The clinical phenotype of succinic semialdehydedehydrogenase deficiency (4-Hydroxybutyric Aciduria): case reports of 23 new patients. Pediatrics, 1997; 99: 567-574.
- Giesler M, Biller S, Korinthenberg R, Streitlein-Böhme I: GMA Jahrestagung 2009 - Ein Rückblick GMS Zeitschrift für Medizinische Ausbildung 2010, 2010; 27 (3): 1-4.
- Gildein HP: Das Neugeborene mit zyanotischem Herzfehler. Kinderkrankenschwester, 1997. (in Druck)
- Gildein HP, Berner R, Willke E, Mocellin R: Endokarditisprophylaxe bei herzkranken Kindern. Monatsschr Kinderheilk, 1994; 142: 905-907.
- Gildein HP, Berner R, Willke E, Mocellin R: "Endokarditisprophylaxe" bei herzkranken Kindern. Ein Mißverständnis und die Folgen. Monatsschr Kinderheilk, 1994; 142: 905-907.
- Gildein HP, Däbritz S, Geibel A, Sarai K, Vazquez-Jimenez J, Hügel W, Mocellin R: Transcatheter closure of atrial septal defects by the "buttoned" device. Complications and need for surgical revision. Pediatr Cardiol, 1997; 18: 328-331.
- Gildein HP, Goh TH, Wilkinson JL, Mocellin R: Ballondilatation der kritischen Pulmonalstenose. Morphologische Voraussetzungen und Ergebnisse. Z. Kardiol., 1994; 83 (Suppl 1): 40.
- Gildein HP, Goh TH, Wilkinson JL, Mocellin R: Entwicklung des Pulmonalklappenringdurchmesser und der rechtsventrikulären Strukturen nach Ballondilataion einer kritischen Pulmonalstenose. Monatsschr Kinderheilk, 1994; 142 (Suppl 1): 87.
- Gildein HP, Goh TH, Wilkinson JL, Mocellin R: Ballondilatation einer kritischen Pulmonalklappenstenose bei 12 Neugeborenen. Z. Kardiol., 1994; 83: 96.
- Gildein HP, Grävinghoff L, Goltz K, Schmaltz AA, Weil J, Mocellin R: Perkutaner Verschluß des kleinen offenen Duktus mit thrombogenen Spiralen. Z. Kardiol., 1995; 84: 766.
- Gildein HP, Kleinert S, Goh TH, Wilkinson JL: The pulmonary valve grows after balloon dilatation of neonatal critical pulmonary valve stenosis. Am. Heart J., 1998. (in Druck)
- Gildein HP, Kleinert S, Goh TH, Wilkinson JL.: Treatment of critical pulmonary valve stenosis in the neonatal period by balloon dilatation. Am. Heart J., 1996; 131: 1007-1011.
- Gildein HP, Kleinert S, Layangool T, Wilkinson JL: Acquired coronary artery fistula in children after ventricular septal myectomy of the right or left ventricular outflow tract. Am. Heart J., 1995; 130: 1124-1126.
- Gildein HP, Kleinert S, Weintraub RG, Wilkinson JL, Karl T, Mee RBB: Surgical commissurotomy of the aortic valve: Outcome of surgical valvotomy in neonates with critical aortic stenosis. Am. Heart J., 1996; 131: 754-759.
- Gildein HP, Mocellin R: Catheter closure of a residual aortopulmonary window after corretive surgery. Cardiol Young, 1995; 5: 96-97.
- Gildein HP, Mocellin R: Rekanalisation eines Ductus arteriosus Botalli nach Katheterverschluß mit einem Rashkind-Doppelschirmchen. 1997. (in Druck)
- Gildein HP, Mocellin R, Kaufmehl K: Oxygen uptake transient kinetics during constant-load exercise in children after operations of ventricular septal defect, tetralogy of Fallot, transposition of the great arteries or tricuspid valve atresia. Am. J. Cardiol., 1994; 74: 166-169.
- Gildein HP, Önaldi D, Gordjani N: Acute renal failure due to mechanical haemolysis after percutaneous catheter occlusion of a patent arterial duct. International Journal of Cardiology, 1997; 66: 66-67.
- Gildein HP, Önaldi D, Gordjani N: Acute renal failure due to mechanical haemolysis after percutaneous catheter occlusion of a patent arteriel duct. International Journal of Cardiology, 1998; 63: 317-318.
- Gildein HP, Wildberg A, Mocellin R: Vergleichende Untersuchungen der Hämodynamik unter Prostazyklin und Nifedipin bei Patienten mit Eisenmenger-Syndrom. Z. Kardiol., 1995; 84: 55-63.
- Gildein HP., Germeroth O., Lilje C., Krüger M., Wildberg A., Mocellin R.: Internventioneller Verschluss des persistiernden Ductus arteriosus Botalli mit Gianturco-Spiralen. Z. Kardiol., 1999; 88: 514-520.
- Gildein P, Kleinert S, Goh TH, Weintraub RG, Wilkinson JL, Menahem S, Edis BD, Fong LV, Karl T, Pawade, A: Outcome following surgical valvotomy in neonates with isolated critical aortic valve stenosis. Aust NZ J Med, 1994; 24: 635.
- Gilsbach R, Preissl S, Gruning BA, Schnick T, Burger L, Benes V, Wurch A, Bonisch U, Gunther S, Backofen R, Fleischmann BK, Schubeler D, Hein L: Dynamic DNA methylation orchestrates cardiomyocyte development, maturation and disease. Nat Commun, 2014; 5 (online): 5288. : http://dx.doi.org/10.1038/ncomms6288
- Gilsbach R, Preissl S, Gruning BA, Schnick T, Burger L, Benes V, Wurch A, Bonisch U, Gunther S, Backofen R, Fleischmann BK, Schubeler D, Hein L: Dynamic DNA methylation orchestrates cardiomyocyte development, maturation and disease. Nat Commun, 2014; 5: 5288-5288. : http://dx.doi.org/10.1038/ncomms6288
- Gilsbach R, Preissl S, Gruning BA, Schnick T, Burger L, Benes V, Wurch A, Bonisch U, Gunther S, Backofen R, Fleischmann BK, Schubeler D, Hein L: Dynamic DNA methylation orchestrates cardiomyocyte development, maturation and disease. Nat Commun, 2014; 5: 5288-5288. : http://dx.doi.org/10.1038/ncomms6288
- Gimpel C, Avni EF, Breysem L, Burgmaier K, Caroli A, Cetiner M, Haffner D, Hartung EA, Franke D, König J, Liebau MC, Mekahli D, Ong ACM, Pape L, Titieni A, Torra R, Winyard PJD, Schaefer F: Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.
Radiology, 2019; 290 (3): 769-782. : http://dx.doi.org/10.1148/radiol.2018181243
- Gimpel C, Bergmann C, Bockenhauer D, Breysem L, Cadnapaphornchai MA, Cetiner M, Dudley J, Emma F, Konrad M, Harris T, Harris PC, Konig J, Liebau MC, Marlais M, Mekahli D, Metcalfe AM, Oh J, Perrone RD, Sinha MD, Titieni A, Torra R, Weber S, Winyard PJD, Schaefer F: International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol, 2019; 15 (11): 713-726. : http://dx.doi.org/10.1038/s41581-019-0155-2
- Gimpel C, Bergmann C, Brinkert F, Cetiner M, Gembruch U, Haffner D, Kemper M, König J, Liebau M, Maier RF, Oh J, Pape L, Riechardt S, Rolle U, Rossi R, Stegmann J, Vester U, Kaisenberg CV, Weber S, Schaefer F: [Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies]. Klin Padiatr, 2020; 232 (5): 228-248. : http://dx.doi.org/10.1055/a-1179-0728
- Gimpel C, Franke D: Bildgebende Diagnostik bei Kindern mit Nierenzysten und Zystenniere Monatsschr Kinderh, 2019; 167 (6): 530-538.
- Gimpel C, Heinrich A, Fehrenbach H, Pfeiffer J, Pisarski P, Pohl M: Increased incidence of adenoidectomy and tonsillectomy in children with renal transplantation. Pediatr Nephrol, 2014; 29 (8): 1441-1450. : http://dx.doi.org/10.1007/s00467-014-2775-x
- Gimpel C, Jung BA, Jung S, Brado J, Schwendinger D, Burkhardt B, Pohl M, Odening KE, Geiger J, Arnold R: Magnetic resonance tissue phase mapping demonstrates altered left ventricular diastolic function in children with chronic kidney disease. Pediatr Radiol, 2017; 47 (2): 169-177. : http://dx.doi.org/10.1007/s00247-016-3741-5
- Gimpel C, Krause A, Franck P, Krueger M, von Schnakenburg C: Exposure to furosemide as the strongest risk factor for nephrocalcinosis in preterm infants. Pediatr Int, 2010; 52 (1): 51-56. : http://dx.doi.org/10.1111/j.1442-200X.2009.02886.x
- Gimpel C, Schaefer F: Williams-Beuren syndrome--stretching to learn big lessons from small patients. Nephrol Dial Transpl, 2010; 25 (2): 339-341. : http://dx.doi.org/10.1093/ndt/gfp614
- Gimpel C, Wühl E, Arbeiter K, Drozdz D, Trivelli A, Charbit M, Gellermann J, Dusek J, Jankauskiene A, Emre S, Schaefer F, ESCAPE Trial Group: Superior consistency of ambulatory blood pressure monitoring in children: implications for clinical trials. J Hypertens, 2009; 27 (8): 1568-1574.
- Gimpel C,, Masioniene L, Djakovic N, Schenk JP, Haberkorn U, Tönshoff B, Schaefer F: Complications and long-term outcome of primary obstructive megaureter in childhood. Pediatr Nephrol, 2010; 25 (9): 1679-1686.
- Gläsker S, Kruger MT, Klingler JH, Wlodarski M, Klompen J, Schatlo B, Hippchen B, Neumann HP, Van Velthoven V: Hemangioblastomas and neurogenic polyglobulia. Neurosurgery, 2013; 72 (6): 930-935. : http://dx.doi.org/10.1227/NEU.0b013e31828ba793
- Glaus MA, Baeyens B, Bradbury MH, Jakob A, Van Loon LR, Yaroshchuk A: Diffusion of 22Na and 85Sr in montmorillonite: evidence of interlayer diffusion being the dominant pathway at high compaction. Environ Sci Technol, 2007; 41 (2): 478-485.
- Glocker E, Ehl S, Grimbacher B: Common variable immunodeficiency in children. Curr Opin Pediatr, 2007; 19 (6): 685-692. : http://dx.doi.org/10.1097/MOP.0b013e3282f1ddd5
- Glocker E,, Ehl S, Grimbacher B: Common variable immunodeficiency in children. Curr Opin Pediatr, 2007; 19 (6): 685-692.
- GLOCKER F-X, RÖSLER K-M, LINDEN D, HEINEN F, HESS C-W, LÜCKING C-H: Facial nerve dysfunction in hereditary motor and sensory neuropathy type I and III Muscle & Nerve, 1999; 22: 1201-1208.
- Glöckler M, Severin T, Arnold R, Greiner P, Schwab KO, Uhl M, Schlensak C, Rössler J, Dittrich S: First description of three patients with multifocal lymphangiomatosis and protein-losing enteropathy following palliation of complex congenital heart disease with total cavo-pulmonary connection. Pediatr Cardiol, 2008; 29 (4): 771-774.
- Glöckler M, Severin T, Arnold R, Greiner P, Schwab KO, Uhl M, Schlensak C, Rossler J, Dittrich S: First description of three patients with multifocal lymphangiomatosis and protein-losing enteropathy following palliation of complex congenital heart disease with total cavo-pulmonary connection. Pediatr Cardiol, 2008; 29 (4): 771-774. : http://dx.doi.org/10.1007/s00246-007-9194-8
- Glöckler M, Severin T, Arnold R, Greiner P, Schwab KO, Uhl M, Schlensak C, Rössler J, Dittrich S: First Description of Three Patients with Multifocal Lymphangiomatosis and Protein-Losing Enteropathy Following Palliation of Complex Congenital Heart Disease with Total Cavo-Pulmonary Connection. Pediatr Cardiol, 2008; 29 (4): 771-774. : http://10.1007/s00246-007-9194-8
- Goebel B, Arnold R, Koletzki E, Ulmer HE, Eichhorn J, Borggrefe M, Figulla HR, Poerner TC: Exercise tissue Doppler echocardiography with strain rate imaging in healthy young individuals: feasibility, normal values and reproducibility. Int J Cardiovasc Imaging, 2006; Epub ahead of print. (in Druck)
- Goebel B, Arnold R, Koletzki E, Ulmer HE, Eichhorn J, Borggrefe M, Figulla HR, Poerner TC: Exercise tissue Doppler echocardiography with strain rate imaging in healthy young individuals: feasibility, normal values and reproducibility. Int J Cardiovas Imag, 2007; 23 (2): 149-55.
- Goebel B, Poerner T, Gorenflo M, Lauten A, Jung C, Grohmann J, Figulla H, Arnold R: Regional myocardial function in children with chronic aortic regurgitation. Echocardiogr-j Card, 2010; 27 (8): 1021-1027. : http://dx.doi.org/10.1111/j.1540-8175.2010.01195.x
- Goemans N, Mercuri E, Belousova E, Komaki H, Dubrovsky A, McDonald CM, Kraus JE, Lourbakos A, Lin Z, Campion G, Wang SX, Campbell C: A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy. Neuromuscular Disord, 2018; 28 (1): 4-15. : http://dx.doi.org/10.1016/j.nmd.2017.10.004
- Gohring G, Erlacher M, van Buiren M, Juttner E, Niemeyer CM, Schlegelberger B: Mesenteric chloroma with t(16;16) followed by acute myelomonocytic leukemia with clonal evolution. Cancer Genet Cytogen, 2007; 179 (2): 162-164. : http://dx.doi.org/10.1016/j.cancergencyto.2007.08.016
- Gohring G, Hanke C, Kratz C, Kontny U, Steinemann D, Niemeyer CM, Schlegelberger B: Fluorescence in situ hybridization using the subtelomeric 11q probe as a diagnostic tool for congenital thrombocytopenia. Ann Hematol, 2006; 85 (12): 883-885.
- Göhring G, Erlacher M, van Buiren M, Jüttner E, Niemeyer CM, Schlegelberger B: Mesenteric chloroma with t(16;16) followed by acute myelomonocytic leukemia with clonal evolution. Cancer Genet Cytogen, 2007; 179 (2): 162-164.
- Göhring G, Hanke C, Kratz C, Kontny U, Steinemann D, Niemeyer CM, Schlegelberger B: Fluorescence in situ hybridization using the subtelomeric 11q probe as a diagnostic tool for congenital thrombocytopenia. Ann Hematol, 2006; 85: 883-885.
- Göhring G, Karow A, Steinemann D, Wilkens L, Lichter P, Zeidler C, Niemeyer C, Welte K, Schlegelberg B: Chromosomal aberrations in congenital bone marrow failure disorders - an early indicator for leukemogenesis? Ann Hematol, 2007; 86: 733-739.
- Göhring G, Michalova K, Beverloo HB, Betts D, Harbott J, Haas OA, Kerndrup G, Sainati L, Bergstraesser E, Hasle H, Stary J, Trebo M, van den Heuvel-Eibrink MM, Zecca M, van Wering ER, Fischer A, Noellke P, Strahm B, Locatelli F, Niemeyer CM, Schlegelberger B: Complex karyotype newly defined: the strongest prognostic factor in advanced childhood myelodysplastic syndrome. Blood, 2010; 116 (19): 3766-3769.
- Göhring G, Thomay K, Schmidt G, Ripperger T, Xu M, Wittner N, Chao MM, Baumann I, Niewisch M, Reinhardt D, Klingebiel T, Thol F, Schlegelberger B, Niemeyer CM: A common ancestral DNMT3A-mutated preleukemic clone giving rise to AML and MDS in an adolescent girl. Leukemia Lymphoma, 2017; 58 (3): 718-721. : http://dx.doi.org/10.1080/10428194.2016.1207765
- Gong H, Zolzer F, von Recklinghausen G, Rossler J, Breit S, Havers W, Fotsis T, Schweigerer L: Arginine deiminase inhibits cell proliferation by arresting cell cycle and inducing apoptosis. Biochem Bioph Res Co, 1999; 261 (1): 10-14. : http://dx.doi.org/10.1006/bbrc.1999.1004
- Gonzalez Coraspe JA, Weis J, Anderson ME, Munchberg U, Lorenz K, Buchkremer S, Carr S, Zahedi RP, Brauers E, Michels H, Sunada Y, Lochmuller H, Campbell KP, Freier E, Hathazi D, Roos A: Biochemical and pathological changes result from mutated Caveolin-3 in muscle. Skelet Muscle, 2018; 8 (1): 28. : http://dx.doi.org/10.1186/s13395-018-0173-y
- Gordjani N, Frankenschmid A, Zimmerhackl LB, Brandis M: Subureteral collagen injection versus antireflux surgery in primary vesico-ureteral reflux grade III. Eur. J. Pediatr., 1996; 155: 491-494.
- Gordjani N, Henon P, Rondeau E, Hermine O: Purpuras thrombotiques thrombocytopeniques syndromes hemolytiques et uremiques micro-angiopathies thrombotiques. Hematologie, 1998; 4: 75-87.
- Gordjani N, Nitschke R, Greger R, Leipziger J: Capacitative Ca2+-entry (CEE) induced by luminal and basolateral ATP in polaryzed MDCK/C7-cells is restricted to the basolateral membrane. Nieren- und Hochdruck-Krankheiten, 1998; 26: 404.
- Gordjani N, Nitschke R, Kerstan D, Greger R, Leipziger J: Capacitative Ca-entry (CCE) induced by luminal and basolateral ATP in the polarised MDCK. C7 cells is restricted to the basolateral membrane. Cell Calcium, 1997; 22(2): 121-128.
- Gordjani N, Sutor AH: Coagulation Changes associated with the Hemolytic Uremic Syndrome. 1998; 24: 1-20.
- Gordjani N, Sutor AH, Zimmerhackl LB, Brandis M: Hemolytic uremic syndromes in childhood. Seminars in Thrombosis and Hemostasis, 1997; 23: 281-293.
- Gordjani N, T Epting, P Fischer-Reipe, R Greger, M Brandis, J Leipziger, R Nitschke: Cyclosporin-A-induced effects on the free Ca2+ concentration in LLC-PK1-cells and their mechanisms. Pflug Arch Eur J Phy, 2000; 439: 627-633.
- Gordjani N., Herdeg S., Ross U.H., Grimme H. and Brandis M.: Focal dermal hypoplasia (Goltz-Gorlin-Syndrom) associated with obstructive papillomatosis of the Larynx and Hypopharynx. European Journal of Dermatology, 1999; 11(1): 1-2.
- Gorenflo M, Apitz C, Miera O, Stiller B, Schranz D, Berger F, Hager A, Kaemmerer H: [Pulmonary hypertension/pulmonary arterial hypertension in congenital heart disease and therapy of pulmonary arterial hypertension in children]. Deut Med Wochenschr, 2014; 139 Suppl. 4: 166-170. : http://dx.doi.org/10.1055/s-0034-1387491
- Gorenflo M, Apitz C, Miera O, Stiller B, Schranz D, Berger F, Hager A, Kaemmerer H: [Pulmonary hypertension/pulmonary arterial hypertension in congenital heart disease and therapy of pulmonary arterial hypertension in children]. Deut Med Wochenschr, 2014; 139 Suppl 4: S166-S170. : http://dx.doi.org/10.1055/s-0034-1387491
- Gorr TA, Wichmann D, Hu J, Hermes-Lima M, Welker AF, Terwilliger N, Wren JF, Viney M, Morris S, Nilsson GE, Deten A, Soliz J, Gassmann M: Hypoxia tolerance in animals: biology and application. Physiol Biochem Zool, 2010; 83 (5): 733-752.
- Görtler I., Urbanek R., Forster J: Characterization of antigens and allergens in hypoallergenic infant formulae. Eur. J. Pediatr., 1995; 154: 289-294.
- Gothwal M, Nakamura L, Hainmann I, Koehler U, Schilling F, Rost S, Oldenburg J, Zieger B: Molecular genetic analysis of a patient with moderate hemophilia A and psychomotor developmental delay. Klin Padiatr, 2013; 225 (3): 175-176. : http://dx.doi.org/10.1055/s-0033-1341490
- Gothwal M, Nakamura L, Hainmann I, Koehler U, Schilling F, Rost S, Oldenburg J, Zieger B: Molecular genetic analysis of a patient with moderate hemophilia A and psychomotor developmental delay. Klin Padiatr, 2013; 225 (3): 175-176. : http://dx.doi.org/10.1055/s-0033-1341490
- Gothwal M, Sandrock-Lang K, Zieger B: Genetics of inherited platelet disorders. Hamostaseologie, 2014; 34: 133-141. : http://dx.doi.org/10.5482/HAMO-13-09-0049
- Gotze T, Blessing H, Grillhosl C, Gerner P, Hoerning A: Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment. Front Pediatr, 2015; 3: 43-43. : http://dx.doi.org/10.3389/fped.2015.00043
- Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospisilova D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W: The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood, 2018; 131 (20): 2183-2192. : http://dx.doi.org/10.1182/blood-2017-10-810796
- Grantzow R, Schmittenbecher P, Cremer H, Höger P, Rössler J, Hamm H, Hohenleutner U: Hemangiomas in infancy and childhood. S 2k guideline of the German Society of Dermatology with the working group Pediatric Dermatology together with the German Society for Pediatric Surgery and the German Society for Pediatric Medicine. J Dtsch Dermatol Ges, 2008; 6 (4): 324-329.
- Grasemann C, Schundeln MM, Hovel M, Schweiger B, Bergmann C, Herrmann R, Wieczorek D, Zabel B, Wieland R, Hauffa BP: Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile Paget's disease. J Clin Endocr Metab, 2013; 98 (8): 3121-3126. : http://dx.doi.org/10.1210/jc.2013-1143
- Grasemann C, Unger N, Hovel M, Arweiler-Harbeck D, Herrmann R, Schundeln MM, Muller O, Schweiger B, Lausch E, Meissner T, Kiewert C, Hauffa BP, Shaw NJ: Loss of Functional Osteoprotegerin: More Than a Skeletal Problem. J Clin Endocr Metab, 2017; 102 (1): 210-219. : http://dx.doi.org/10.1210/jc.2016-2905
- Grasemann H, van's Gravesande KS, Buscher R, Drazen JM, Ratjen F: Effects of sex and of gene variants in constitutive nitric oxide synthases on exhaled nitric oxide. Am J Resp Crit Care, 2003; 15 (8): 1113-1116.
- Grasemann H, van's Gravesande KS, Buscher R, Knauer N, Silverman ES, Palmer LJ, Drazen JM, Ratjen F: Endothelial nitric oxide synthase variants in cystic fibrosis lung disease. Am J Resp Crit Care, 2003; 167 (3): 390-394.
- Gratwohl A, Baldomero H, Aljurf M, Pasquini MC, Bouzas LF, Yoshimi A, Szer J, Lipton J, Schwendener A, Gratwohl M, Frauendorfer K, Niederwieser D, Horowitz M, Kodera Y, Worldwide Network of Blood, Bone Marrow Transplantation: Hematopoietic stem cell transplantation: a global perspective. Jama-j Am Med Assoc, 2010; 303 (16): 1617-1624.
- Graubner UB., Boos J., Creutzig U., Dörffel W., Lakomek M., Niemeyer C., Schrappe M., Spaar H-J., Belohradsky BH.: Die antiinfektiöse Prophylaxe in der pädiatrischen Onkologie. Klin. Pädiatr., 1999; 211: 347-352.
- Greger R, Bleich M, Leipziger J, Ecke D, Mall M, Kunzelmann K: Regulation of ion transport in colonic crypts. News Physiol. Sci., 1997; 12: 62-66.
- Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kolvraa: Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-A, together conferring susceptibility to ethylmalonic aciduria. Hum. Mol. Genet., 1998; 7: 619-627.
- Greiner J, Schrappe M, Claviez A, Zimmermann M, Niemeyer C, Kolb R, Eberl W, Berthold F, Bergstrasser E, Gnekow A, Lassay E, Vorwerk P, Lauten M, Sauerbrey A, Rischewski J, Beilken A, Henze G, Korte W, Moricke A: THROMBOTECT - a randomized study comparing low molecular weight heparin, antithrombin and unfractionated heparin for thromboprophylaxis during inudction therapy of acute lymphoblastic leukemia in children and adolescents. Haematologica, 2019; 104 (4): 756-765. : http://dx.doi.org/10.3324/haematol.2018.194175
- Grobe HR, Kunath F, Tramer MR, Lang B, Meerpohl JJ: Evidence-based anesthesiology: knowledge transfer from research into clinical practice. Anaesthesist, 2011; 60 (5): 407-413. : http://dx.doi.org/10.1007/s00101-011-1895-y
- Gröber-Grätz D, Widhalm K, de Zwaan M, Reinehr T, Blüher S, Schwab KO, Wiegand S, Holl RW: Body mass index or waist circumference: which is the better predictor for hypertension and dyslipidemia in overweight/obese children and adolescents?
Association of cardiovascular risk related to body mass index or waist
circumference
Horm Res Paediat, 2013; 80 (3): 170-178.
- Grobner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hubschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Fruhwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM: The landscape of genomic alterations across childhood cancers. Nature, 2018; 555 (7696): 321-327. : http://dx.doi.org/10.1038/nature25480
- Grohmann J, Blanke P, Benk C, Schlensak C: Trans-catheter closure of the native aortic valve with an Amplatzer Occluder to treat progressive aortic regurgitation after implantation of a left-ventricular assist device. Eur J Cardio-thorac, 2011; 39 (6): e181-e183. : http://dx.doi.org/10.1016/j.ejcts.2011.01.036
- Grohmann J, Hohn R, Fleck T, Schmoor C, Stiller B: Transcatheter closure of atrial septal defects in children and adolescents: Single-center experience with the GORE(R) septal occluder. Catheter Cardio Inte, 2014; 84 (6): E51-E57. : http://dx.doi.org/10.1002/ccd.25494
- Grohmann J, Hohn R, Fleck T, Stiller B, Neumann E, Sigler M, Kroll J, Beyersdorf F, Siepe M: No-React(R) Injectable BioPulmonic valves re-evaluated: discouraging follow-up results. Interact Cardiov Th, 2015; 21 (5): 657-665. : http://dx.doi.org/10.1093/icvts/ivv214
- Grohmann J, Sigler M, Siepe M, Stiller B: A new breakable stent for recoarctation in early infancy: Preliminary Clinical Experience. Catheter Cardio Inte, 2016; 87 (4): E143-E150. : http://dx.doi.org/10.1002/ccd.26393
- Grohmann J, Stiller B, Neumann E, Jakob A, Fleck T, Pache G, Siepe M, Hohn R: Bronchial compression following pulmonary artery stenting in single ventricle lesions: how to prevent, and how to decompress. Clin Res Cardiol, 2016; 105 (4): 323-331. : http://dx.doi.org/10.1007/s00392-015-0924-2
- Grohmann J, Wildberg C, Zartner P, Abu-Tair T, Tarusinov G, Kitzmuller E, Schmoor C, Stiller B, Kampmann C: Multicenter midterm follow-up results using the gore septal occluder for atrial septal defect closure in pediatric patients. Catheter Cardio Inte, 2017; 89 (7): E226-E232. : http://dx.doi.org/10.1002/ccd.26881
- Grom AA, Ilowite NT, Pascual V, Brunner HI, Martini A, Lovell D, Ruperto N, Leon K, Lheritier K, Abrams K: Rate and Clinical Presentation of Macrophage Activation Syndrome in Patients With Systemic Juvenile Idiopathic Arthritis Treated With Canakinumab. Arthritis Rheumatol, 2016; 68 (1): 218-228. : http://dx.doi.org/10.1002/art.39407
- Groppa S, Oliviero A, Eisen A, Quartarone A, Cohen LG, Mall V, Kaelin-Lang A, Mima T, Rossi S, Thickbroom GW, Rossini PM, Ziemann U, Valls-Sole J, Siebner HR: A practical guide to diagnostic transcranial magnetic stimulation: report of an IFCN committee. Clin Neurophysiol, 2012; 123 (5): 858-882. : http://dx.doi.org/10.1016/j.clinph.2012.01.010
- Gropp U., Ludwig A.-Ch.: Pflege von Säuglingen und Kleinkindern mit Neurodermitis. Heilberufe, 1998; 08: 12.
- Gropp U., Ludwig A.-Ch.: Sehr junge Patienten mit Neurodermitis. PROCARE, 1999; 01: 12.
- Gropp Ulrike: Neurodermitis-Pflegeziel und Pflegeplanung. Kinderkrankenschwester, 1998; 10: 435.
- Grosch M, Gruner B, Spranger S, Stutz AM, Rausch T, Korbel JO, Seelow D, Nurnberg P, Sticht H, Lausch E, Zabel B, Winterpacht A, Tagariello A: Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype. Matrix Biol, 2013; 32 (7-8): 387-392. : http://dx.doi.org/10.1016/j.matbio.2013.05.001
- Groß M, Brune T, Jorch G, Rabe J, Hentschel R: Significance of respiratory synctial virus (RSV) infection in the 1st year of life Infection, 2000; 28: 34-37.
- Gross-Selbeck G, Löffler H, Diener W: Therapie der benignen Partialepilepsien Epilepsie-Blätter, 1997; 10: 66-72.
- Grundmann S, Hoehn R, Kroll J, Grohmann J: Percutaneous Pulmonary Valve Implantation in the Patched Right Ventricular Outflow Tract 51 Years after Surgical Repair for Tetralogy of Fallot. J Heart Valve Dis, 2016; 25 (5): 648-650.
- Grundmann U, Heinzmann A, Schwering L, Urbanek R, Kopp MV: Diagnostic Approach Identifying Hydroxyethyl Starch (HES) Triggering a Severe Anaphylactic Reaction during Anesthesia in a 15-Year-Old Boy. Klin Padiatr, 2010; 222 (7): 469-470. : http://dx.doi.org/10.1055/s-0030-1255075
- Grünert S, Schmidts M, Kenzel S, Sass JO, Greiner P, Pohl M, Hentschel R: D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome. Journal of pediatric gastroenterology and nutrition, 2010; 50 (1): 106-107.
- Grünert S,, Schmidts M, Pohlenz J, Kopp MV, Uhl M, Schwab KO: Congenital central hypothyroidism due to a homozygous mutation in the TSHβ subunit gene. Case Reports in Pediatrics, 2011; Vol 2011 (online). : http://doi:10.1155/2011/36987
- Grünert SC: Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency. Orphanet J Rare Dis, 2014; 9 (online): 117-117. : http://dx.doi.org/10.1186/s13023-014-0117-5
- Grünert SC, Brichta CM, Krebs A, Clement HW, Rauh R, Fleischhaker C, Hennighausen K, Sass JO, Schwab KO: Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations. Nutr J, 2013; 12 (online): 60. : http://dx.doi.org/10.1186/1475-2891-12-60
- Grünert SC, Fowler B, Superti-Furga A, Sass JO, Schwab KO: Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease. Brain Dev-jpn, 2011; 33 (5): 432-436.
- Grünert SC, Mullerleile S, De Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Burgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO: Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis, 2013; 8 (online): 6. : http://dx.doi.org/10.1186/1750-1172-8-6
- Grünert SC, Müllerleile S, de Silva L Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus JP, Superti-Furga A, Schwab KO, Sass JO: Propionic acidemia: neonatal versus selective metabolic screening. J Inherit Metab Dis, 2012; 35 (1): 41-49. : http://dx.doi.org/10.1007/s10545-011-9419-0
- Grünert SC, Rosenbaum-Fabian S, Schumann A, Schwab KO, Mingirulli N, Spiekerkoetter U: Successful pregnancy in maple syrup urine disease: a case report and review of the literature. Nutr J, 2018; 17 (1): 51-58. : http://dx.doi.org/10.1186/s12937-018-0357-7
- Grünert SC, Schlatter SM, Schmitt RN, Gemperle-Britschgi C, Mrazova L, Balci MC, Bischof F, Coker M, Das AM, Demirkol M, de Vries M, Gokcay G, Haberle J, Ucar SK, Lotz-Havla AS, Lucke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab KO, Mitchell GA, Sass JO: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Mol Genet Metab, 2017; 121 (3): 206-215. : http://dx.doi.org/10.1016/j.ymgme.2017.05.014
- Grünert SC, Schmitt RN, Schlatter SM, Gemperle-Britschgi C, Balci MC, Berg V, Coker M, Das AM, Demirkol M, Derks TGJ, Gokcay G, Ucar SK, Konstantopoulou V, Christoph Korenke G, Lotz-Havla AS, Schlune A, Staufner C, Tran C, Visser G, Schwab KO, Fukao T, Sass JO: Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency. Mol Genet Metab, 2017; 122 (1-2): 67-75. : http://dx.doi.org/10.1016/j.ymgme.2017.06.012
- Grünert SC, Schwab KO, Pohl M, Sass JO, Santer R: Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. Mol Genet Metab, 2012; 105 (3): 433-437. : http://dx.doi.org/10.1016/j.ymgme.2011.11.200
- Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR: 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis, 2012; 7 (online): 31. : http://dx.doi.org/10.1186/1750-1172-7-31
- Grünert SC, Villavicencio-Lorini P, Wermuth B, Lehnert W, Sass JO, Schwab KO: Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management. J Diabetes Metab Disord, 2013; 12 (1) (online): 37-37. : http://dx.doi.org/10.1186/2251-6581-12-37
- Grünert SC, Wendel U, Lindner M, Leichsenring M, Schwab KO, Vockley J, Lehnert W, Ensenauer R: Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis, 2012; 7 (online): 9. : http://dx.doi.org/10.1186/1750-1172-7-9
- Grunewald TG, Greulich N, Kontny U, Fruhwald M, Rutkowski S, Kordes U, Scheurlen W, Schmidt W, Stachel D, Metzler M, Mittler U, Graf N, Benesch M, Burdach S: Targeted therapeutics in treatment of children and young adults with solid tumors: an expert survey and review of the literature. Klin Padiatr, 2012; 224 (3): 124-131. : http://dx.doi.org/10.1055/s-0032-1301930
- Grychtol R: "Little hedgehogs of doubts"--
die Insulinschocktherapie in den 190er bis 1950er Jahren Praxis (Bern 1994), 2008; 97 (15): 835-839.
- Gudbjartsson DF, Bjornsdottir US, Halapi E, Helgadottir A, Sulem P, Jonsdottir GM, Thorleifsson G, Helgadottir H, Steinthorsdottir V, Stefansson H, Williams C, Hui J, Beilby J, Warrington NM, James A, Palmer LJ, Koppelman GH, Heinzmann A, Krueger M, Boezen HM, Wheatley A, Altmuller J, Shin HD, Uh ST, Cheong HS, Jonsdottir B, Gislason D, Park CS, Rasmussen LM, Porsbjerg C, Hansen JW, Backer V, Werge T, Janson C, Jönsson UB, Ng MC, Chan J, So WY, Ma R, Shah SH, Granger CB, Quyyumi AA, Levey AI, Vaccarino V, Reilly MP, Rader DJ, Williams MJ, van Rij AM, Jones GT, Trabetti E, Malerba G, Pignatti PF, Boner A, Pescollderungg L, Girelli D, Olivieri O, Martinelli N, Ludviksson BR, Ludviksdottir D, Eyjolfsson GI, Arnar D, Thorgeirsson G,, Deichmann K, Thompson PJ, Wjst M, Hall IP, Postma DS, Gislason T, Gulcher J, Kong A, Jonsdottir I, Thorsteinsdottir U, Stefansson K.: Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. Nat Genet, 2009; 41 (3): 342-347.
- Guenther K, Vach W, Kachel W, Bruder I, Hentschel R: Auditing Neonatal Intensive Care: Is PREM a Good Alternative to CRIB for Mortality Risk Adjustment in Premature Infants? Neonatology, 2015; 108: 172-178. : http://dx.doi.org/10.1159/000433414
- Guergueltcheva V, Muller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmuller H: Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations. J Neurol, 2012; 259 (5): 838-850. : http://dx.doi.org/10.1007/s00415-011-6262-z
- Guerin MV, Regnier F, Feuillet V, Vimeux L, Weiss JM, Bismuth G, Altan-Bonnet G, Guilbert T, Thoreau M, Finisguerra V, Donnadieu E, Trautmann A, Bercovici N: TGFbeta blocks IFNalpha/beta release and tumor rejection in spontaneous mammary tumors. Nat Commun, 2019; 10 (1): 4131-4131. : http://dx.doi.org/10.1038/s41467-019-11998-w
- Guglieri M, Bushby K, McDermott MP, Hart KA, Tawil R, Martens WB, Herr BE, McColl E, Wilkinson J, Kirschner J, King WM, Eagle M, Brown MW, Willis T, Hirtz D, Shieh PB, Straub V, Childs AM, Ciafaloni E, Butterfield RJ, Horrocks I, Spinty S, Flanigan KM, Kuntz NL, Baranello G, Roper H, Morrison L, Mah JK, Manzur AY, McDonald CM, Schara U, von der Hagen M, Barohn RJ, Campbell C, Darras BT, Finkel RS, Vita G, Hughes I, Mongini T, Pegoraro E, Wicklund M, Wilichowski E, Bryan Burnette W, Howard JF, McMillan HJ, Thangarajh M, Griggs RC: Developing standardized corticosteroid treatment for Duchenne muscular dystrophy. Contemp Clin Trials, 2017; 58: 34-39. : http://dx.doi.org/10.1016/j.cct.2017.04.008
- Guinan EC, Tarbell NJ, Niemeyer CM, Sallan SE, Weinstein HJ: Intravascular hemolysis and renal insufficiency after bone marrow transplantation. Blood, 1988; 72 (2): 451-455.
- Guinan EC, Tarbell NJ, Niemeyer CM, Sallan SE, Weinstein HJ: Intravascular hemolysis and renal insufficiency after bone marrow transplantation. Blood, 1988; 72 (2): 451-455.
- Gumbinger C,, Rohsbach CB,, Schulze-Bonhage A,, Korinthenberg R,, Zentner J,, Häffner M,, Fauser S.: Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes Epilepsia, 2009; 50 (6): 1396-1408.
- Gupta R, Ghosh S, Monks B, DeOliveira RB, Tzeng TC, Kalantari P, Nandy A, Bhattacharjee B, Chan J, Ferreira F, Rathinam V, Sharma S, Lien E, Silverman N, Fitzgerald K, Firon A, Trieu-Cuot P, Henneke P, Golenbock DT: RNA and beta-hemolysin of group B Streptococcus induce interleukin-1beta (IL-1beta) by activating NLRP3 inflammasomes in mouse macrophages. J Biol Chem, 2014; 289 (20): 13701-13705. : http://dx.doi.org/10.1074/jbc.C114.548982
- Gupta S, Gallego-Villar L, Wang L, Lee HO, Nasrallah G, Al-Dewik N, Haberle J, Thony B, Blom HJ, Ben-Omran T, Kruger WD: Analysis of the Qatari R336C cystathionine beta-synthase protein in mice. J Inherit Metab Dis, 2019; 42 (5): 831-838. : http://dx.doi.org/10.1002/jimd.12140
- Guttman J, Kessler V, Mols G, Hentschel R, Haberthür C, Geiger K: Continous calculation of intratracheal pressure in the presence of pediatric endotracheal tubes Crit Care Med, 2000; 28: 1018-1026.
- Guttsches AK, Dekomien G, Claeys KG, von der Hagen M, Huebner A, Kley RA, Kirschner J, Vorgerd M: Two novel nebulin variants in an adult patient with congenital nemaline myopathy. Neuromuscular Disord, 2015; 25 (5): 392-396. : http://dx.doi.org/10.1016/j.nmd.2015.01.013
- Guyatt G, Oxman AD, Aki EA, Kunz R, Vist G, Brozek J, Norris S, Falck-Ytter Y, Glasziou P, deBeer H, Jaeschke R, Rind D, Meerpohl J, Dahm P, Schünemann HJ: GRADE guidelines: 1. Introduction - GRADE evidence profiles and summary of finding tables. J Clin Epidemiol, 2011; 64: 383-394. : http://dx.doi.org/10.1016/j.jclinepi.2010.04.026
- Guyatt GH, Oxman AD, Kunz R, Brozek J, Alonso-Coello P, Rind D, Devereaux PJ, Montori VM, Freyschuss B, Vist G, Jaeschke R, Williams JW Jr, Murad MH, inclair D, Falck-Ytter Y, Meerpohl J, Whittington C, Thorlund K, Andrews J, Schünemann HJ: GRADE guidelines 6. Rating the quality of evidence-imprecision. J Clin Epidemiol, 2011; 64 (12): 1283-1293. : http://dx.doi.org/10.1016/j.jclinepi.2011.01.012
- Guyatt GH, Oxman AD, Kunz R, Woodcock J, Brozek J, Helfand M, Alonso-Coello P, Falck-Ytter Y, Jaeschke R, Vist G, Akl EA, Post PN, Norris S, Meerpohl J, Shukla VK, Nasser M, Schünemann HJ, GRADE Working Group: GRADE guidelines: 8. Rating the quality of evidence - indirectness J Clin Epidemiol, 2011; 64 (12): 1303-1310. : http://dx.doi.org/10.1016/j.jclinepi.2011.04.014
- Guyatt GH, Oxman AD, Montori V, Vist G, Kunz R, Brozek J, Alonso-Coello P, Djulbegovic B, Atkins D, Falck-Ytter Y, Williams JW Jr, Meerpohl J, Norris SL, Akl EA, Schünemann HJ: GRADE guidelines: 5. Rating the quality of evidence - publication bias. J Clin Epidemiol, 2011; 64 (12): 1277-1282.
- Guyatt GH, Oxman AD, Sultan S, Glasziou P, Akl EA, Alonso-Coello P, Atkins D, Kunz R, Brozek J, Montori V, Jaeschke R, Rind D, Dahm P, Meerpohl J, Vist G, Berliner E, Norris S, Falck-Ytter Y, Murad MH, Schünemann HJ, GRADE Working Group: GRADE guidelines: 9. Rating up the quality of evidence. J Clin Epidemiol, 2011; 64 (12): 1311-1316. : http://dx.doi.org/10.1016/j.jclinepi.2011.06.004
- Guyatt GH, Oxman AD, Vist G, Kunz R, Brozek J, Alonso-Coello P, Montori V, Akl EA, Djulbegovic B, Falck-Ytter Y, Norris SL, Williams JW Jr, Atkins D, Meerpohl J, Schünemann HJ: GRADE guidelines: 4. Rating the quality of evidence-study limitations (risk of bias). J Clin Epidemiol, 2011; 64 (4): 407-415. : http://dx.doi.org/10.1016/j.jclinepi.2010.07.017
- Haase R, Vilser C, Mauz-Korholz C, Hasenclever D, Kluge R, Ruschke K, Borkhardt A, Seeger K, Lehrnbecher T, Kulozik A, Rossler J, Burdach S, Jurgens H, Korholz D: Evaluation of the prognostic meaning of C-reactive protein (CRP) in children and adolescents with classical Hodgkin's lymphoma (HL). Klin Padiatr, 2012; 224 (6): 377-381. : http://dx.doi.org/10.1055/s-0032-1323824
- Haberlandt E, Scholl-Bürgi S, Neuberger J, Felber S, Gotwald T, Sauter R, Rostasy K, Karall D, Korinthenberg R: Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy Eur J Paediatr Neuro, 2009; 13: 257-260.
- Hackl A, Becker JU, Korner LM, Ehren R, Habbig S, Nusken E, Nusken KD, Ebner K, Liebau MC, Muller C, Pohl M, Weber LT: Mycophenolate mofetil following glucocorticoid treatment in Henoch-Schonlein purpura nephritis: the role of early initiation and therapeutic drug monitoring. Pediatr Nephrol, 2018; 33 (4): 619-629. : http://dx.doi.org/10.1007/s00467-017-3846-6
- Hackstein H, Hecker M, Kruse S, Bohnert A, Ober C, Deichmann KA, Bein G: A novel polymorphism in the 5' promotor region of the human interleukin-4 receptor a chain gene influences soluble interleukin-4 receptor protein levels. Immunogenetics, 2001; 53: 264-269.
- Haegelen C, Perucca P, Châtillon CE, Andrade-Valenca L, Zelmann R, Jacobs J, Collins DL, Dubeau F, Olivier A, Gotman J: High-frequency oscillations, extent of surgical resection, and surgical outcome in drug-resistant focal epilepsy Epilepsia, 2013; 54 (5): 848-857. : http://dx.doi.org/10.1111/epi.12075
- Häffner K, Michelfelder S, Pohl M: Successful therapy of C3Nef-positive C3 glomerulopathy with plasma therapy and immunosuppression. Pediatr Nephrol, 2015; 30 (11): 1951-1959. : http://dx.doi.org/10.1007/s00467-015-3111-9
- Häffner K, Zimmerhackl LB, von Schnakenburg C, Brandis M, Pohl M: Complete remission of post-transplant FSGS recurrence by long-term plasmapheresis. Pediatr Nephrol, 2005; 20 (7): 994-997.
- Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM: Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria. J Inherit Metab Dis, 2015; 38 (5): 873-879. : http://dx.doi.org/10.1007/s10545-015-9841-9
- Hagen von der M, Schallner J, Kaindl A.M., Koehler K, Mitzscherling P, Abicht A, Grieben U, Korinthenberg R, Kress W, Moers von A, Mueller J.S., Schara U, Vorgerd M, Walter M.C., Müller-Reible C, Huebner C, Lochmueller H, Huebner A: Facing the genetic heterogeneity in neuromuscular disorders: Linkage analysis as an economic diagnostic approach towards the molecular diagnosis Neuromuscular Disord, 2006; 16 (1): 4-13.
- Hahn A, Heinemeyer G, Kayser D, Michalak H, Noack K, Wolski M, Bunjes R, Tetzner M, Stürer A, Jonitz W, von, Clarmann M und Ganzert M: Vergiftungsfälle mit Chemikalien in Giftinformationszentren - Modellversuch zur Harmonisierung und Standardisierung der Dokumentation von Vergiftungsfällen. Bundesgesundheitsblatt, 1996; 2: 54-58.
- Hahn A, Wolski M, Noack K, Heinemeyer G, Kayser D, Jonitz W, Michalak H, Stürer A: Erfassung der Vergiftungsfälle und Auswertungen in den Informations- und Behandlungszentren für Vergiftungen in der Bundesrepublik Deutschland. Max von Pettenkofer-Institut des Bundesgesundheitsamtes. MvP-Heft, 1994; 5.
- Hainmann I, Korinthenberg R, Oldenburg J, Pavlova A, Mader I, Zieger B: Compound heterozygosity of the Protein S-Gene as a Cause of severe cerebral sinovenous thrombosis in a 7-year old children Klin Padiatr, 2010; 222: 194-195.
- Hainmann I, Korinthenberg R, Oldenburg J, Pavlova A, Mader I, Zieger B: Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child. Klin Padiatr, 2010; 222 (3): 194-195.
- Hainmann I, Korinthenberg R, Oldenburg J, Pavlova A, Mader I, Zieger B: Compound heterozygosity of the protein S-gene as a cause of severe cerebral sinovenous thrombosis in a 7-year-old child. Klin Padiatr, 2010; 222 (3): 194-195.
- Hainmann I, Oldenburg J, Pavlova A, Superti-Furga A, Zieger B: Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency. Hamostaseologie, 2009; 29 (2): 184-186.
- Hainmann I, Oldenburg J, Pavolova A, Superti-Furga A, Zieger B: Identification of a novel factor X deletion in combination with a missense mutation in the F10 gene - Genotype-phenotype correlation in a girl with severe factor X deficiency. Hämastaseologie, 2009; 29 (2): 184-186.
- Halaas O, Liabakk NB, Vik R, Beninati C, Henneke P, Sundan A, Espevik T: Monocytes stimulated with group B streptococci or interferons release tumour necrosis factor-related apoptosi-inducing ligand. Scand J Immunol, 2004; 60 (1-2): 74-81.
- Halaas O, Liabakk NB, Vik R, Beninati C, Henneke P, Sundan A, Espevik T: Monocytes stimulated with group B streptococci or interferons release tumour necrosis factor-related apoptosis-inducing ligand. Scand J Immunol, 2004; 60 (1-2): 74-81. : http://dx.doi.org/10.1111/j.0300-9475.2004.01448.x
- Halapi E, Gudbjartsson DF, Jonsdottir GM, Bjornsdottir US, Thorleifsson G, Helgadottir H, Williams C, Koppelman GH, Heinzmann A, Boezen HM, Jonasdottir A, Blondal T, Gudjonsson SA, Jonasdottir A, Thorlacius T, Henry AP, Altmueller J, Krueger M, Shin HD, Uh ST, Cheong HS, Jonsdottir B, Ludviksson BR, Ludviksdottir D, Gislason D, Park CS, Deichmann K, Thompson PJ, Wjst M, Hall IP, Postma DS, Gislason T, Kong A, Jonsdottir I, Thorsteinsdottir U, Stefansson K: A sequence variant on 17q21 is associated with age at onset and severity of asthma. Eur J Hum Genet, 2010; 18 (8): 902-908. : http://dx.doi.org/10.1038/ejhg.2010.38
- Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, Sass JO, Fischer J, Topcu M: L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. Neuropediatrics, 2008; 39 (2): 119-122. : http://dx.doi.org/10.1055/s-2008-1081217
- Haliloglu G, Temucin CM, Oguz KK, Celiker A, Coskun T, Sass JO, Fischer J, Topcu M: Peripheral neuropathy in a patient with d-2-hydroxyglutaric aciduria J Inherit Metab Dis, 2009. : http://dx.doi.org/10.1007/s10545-009-0933-2 (in Druck)
- Haller M, Fluegge K, Arri SJ, Adams B, Berner R: Association between resistance to erythromycin and the presence of the internalization-associated gene prtF1 in Streptococcus pyogenes isolates from German pediatric patients Antimicrob Agents Ch, 2005; 49: 2990-2993.
- Haller M, Henzler-Le Boulanger A, Sass JO, Brandis M, Zimmerhackl LB, , . 2005 Feb;20(2): Successful extracorporeal treatment of a male with hyperammonaemic coma Nephrol Dial Transpl, 2005; 20 (2): 453-455.
- Haller Maria, Brandis Matthias, Berner Reinhard: Antibiotic resistance of urinary tract pathogens and rationales for empiric intravenous therapy Pediatr Nephrol, 2004; 19: 982-986.
- Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nurnberg P, Sander T, Kunz WS: A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 2014; 83 (23): 2183-2187. : http://dx.doi.org/10.1212/WNL.0000000000001055
- Hallmann K, Zsurka G, Moskau-Hartmann S, Kirschner J, Korinthenberg R, Ruppert AK, Ozdemir O, Weber Y, Becker F, Lerche H, Elger CE, Thiele H, Nurnberg P, Sander T, Kunz WS: A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy. Neurology, 2014; 83 (23): 2183-2187. : http://dx.doi.org/10.1212/WNL.0000000000001055
- Halmerbauer G, Gartner C, Koller D, Schierl M, Kuhr J, Forster J, Urbanek R, Frischer T: Eosinophil cationic protein and eosinophil protein X in the nasal lavage of children during the first 4 weeks of life. SPACE Collaborative Study Team. Allergy, 2000; 55 (12): 1121-1126.
- Hammerer-Lercher A, Erlacher P, Bittner R, Korinthenberg R, Skladal D, Sorichter S, Sperl, W, Puschendorf B, Mair J: Clinical and Experimental Results on Cardiac Troponin Expression
in Duchenne Muscular Dystrophy Clin Chem, 2001; 47: 451-458.
- HAMMER G, HILLER J, JAKOB A: [The expert opinion on the so-called chronic radiation injury]. Strahlentherapie, 1954; 94 (1): 64-71.
- HAMMER G, JAKOB A, HILLER J, STRAUSS E: [Therapy with radioisotopes]. Ther Ggw, 1954; 93 (3): 81-86.
- Hammerle K, Shayan P, Niemeyer CM, Flotho C: Expression analysis of alpha-NAC and ANX2 in juvenile myelomonocytic leukemia using SMART polymerase chain reaction and "virtual Northern" hybridization. Cancer Genet Cytogen, 2003; 142 (2): 149-152.
- Hanke C, Roessler J, Stegmaier S, Koscielniak E, Niemeyer CM, Kontny U: Alveolar rhabdomyosarcoma mimicking lymphoma with bone marrow involvement. Eur J Pediatr, 2006 (online): Epub ahead. (in Druck)
- Hanke CA, Barth K, Nakamura L, Budde U, Arnold R, Zieger B, Stiller B: Lepirudin treatment in a boy with suspected HIT II after surgery because of tetralogy of Fallot. Hamostaseologie, 2009; 29 (2): 168-170.
- Hanke CA, Hentschel R, Berner R, Timme S, Superti-Furga A, Ruckauer KD, von Schnakenburg C: Clostridium perfringens intestinal gas gangrene in a preterm newborn. Eur J Pediatr Surg, 2009; 19 (4): 257-259. : http://dx.doi.org/10.1055/s-2008-1038958
- Hanke CA, Otten JE, Berner R, Serr A, Splettstoesser W, von Schnakenburg C: Ulceroglandular tularemia in a toddler in Germany after a mosquito bite. Eur J Pediatr, 2009; 168 (8): 937-940. : http://dx.doi.org/10.1007/s00431-008-0862-3
- Hanke CA, Roessler J, Stegmaier S, Koscielniak E, Niemeyer CM, Kontny U: Alveolar rhabdomyosarcoma mimicking lymphoma with bone marrow involvement. Eur J Pediatr, 2007; 166 (5): 505-506. : http://dx.doi.org/10.1007/s00431-006-0269-y
- Hanke CA, Stiller B, Nakamura L, Grohmann J, Zieger B: Prophylactic use of clopidogrel in paediatric cardiac patients. Klin Padiatr, 2012; 224 (3): 166-169. : http://dx.doi.org/10.1055/s-0032-1306345
- Hanke CA, Stiller B, Nakamura L, Grohmann J, Zieger B: Prophylactic use of clopidogrel in paediatric cardiac patients. Klin Padiatr, 2012; 224 (3): 166-169. : http://dx.doi.org/10.1055/s-0032-1306345
- Hanke CA,, Barth K,, Nakamura L,, Budde U,, Arnold R,, Zieger B,, Stiller B: Lepirudin treatment in a boy with suspected HIT II after surgery because of tetralogy of Fallot. Haemostaseologie, 2009; 29: 168-170.
- Hannibal L, Bolisetty K, Axhemi A, DiBello PM, Quadros EV, Fedosov S, Jacobsen DW: Transcellular transport of cobalamin in aortic endothelial cells. Faseb J, 2018; 32 (10): 5506-5519. : http://dx.doi.org/10.1096/fj.201701141RR
- Hannibal L, Lysne V, Bjorke-Monsen AL, Behringer S, Grunert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ: Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency. Front Mol Biosci, 2016; 3: 27-27. : http://dx.doi.org/10.3389/fmolb.2016.00027
- Hannibal L, Tomasina F, Capdevila DA, Demicheli V, Tortora V, Alvarez-Paggi D, Jemmerson R, Murgida DH, Radi R: Alternative Conformations of Cytochrome c: Structure, Function, and Detection. Biochemistry-us, 2016; 55 (3): 407-428. : http://dx.doi.org/10.1021/acs.biochem.5b01385
- Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE: The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet, 2009; 84 (6): 801-806. : http://dx.doi.org/10.1016/j.ajhg.2009.04.021
- Hanusch J, Schwieger A, Sers C, Schaefer R, Bauer G: Oncogenic transformation increases the sensivity for apoptosis induction inhibitors of macromolecular synthesis. Int J Oncol, 2000; 17 (1): 89-95.
- Hardt SE, Eicken A, Berger F, Schubert S, Carminati M, Butera G, Grohmann J, Hohn R, Nielsen-Kudsk JE, Hildick-Smith D, Settergren M, Thomson JD, Geis N, Sondergaard L: Closure of patent foramen ovale defects using GORE(R) CARDIOFORM septal occluder: Results from a prospective European multicenter study. Catheter Cardio Inte, 2017; 90 (5): 824-829. : http://dx.doi.org/10.1002/ccd.26993
- Harsha Raj M, Yashaswini B, Rossler J, Salimath BP: Combinatorial treatment with anacardic acid followed by TRAIL augments induction of apoptosis in TRAIL resistant cancer cells by the regulation of p53, MAPK and NFkappabeta pathways. Apoptosis, 2016; 21 (5): 578-593. : http://dx.doi.org/10.1007/s10495-016-1223-8
- Hartel C, Hartz A, Bahr L, Gille C, Gortner L, Simon A, Orlikowsky T, Muller A, Korner T, Henneke P, Haase R, Zemlin M, Viemann D, Gebauer C, Thome U, Ziegler A, Rupp J, Herting E, Gopel W: Media Stories on NICU Outbreaks Lead to an Increased Prescription Rate of Third-Line Antibiotics in the Community of Neonatal Care. Infect Cont Hosp Ep, 2016; 37 (8): 924-930. : http://dx.doi.org/10.1017/ice.2016.95
- Hartel C, Pagel J, Spiegler J, Buma J, Henneke P, Zemlin M, Viemann D, Gille C, Gehring S, Frommhold D, Rupp J, Herting E, Gopel W: Lactobacillus acidophilus/Bifidobacterium infantis probiotics are associated with increased growth of VLBWI among those exposed to antibiotics. Sci Rep-uk, 2017; 7 (1) (online): 5633-5633. : http://dx.doi.org/10.1038/s41598-017-06161-8
- Hartmann JT, Oechsle K, Huober J, Jakob A, Azemar M, Horger M, Kanz L, Bokemeyer C: An open label, non-comparative phase II study of gemcitabine as salvage treatment for patients with pretreated adult type soft tissue sarcoma. Invest New Drug, 2006; 24 (3): 249-253. : http://dx.doi.org/10.1007/s10637-005-3537-1
- Hartmann S, Okun JG, Schmidt C, Langhans CD, Garbade SF, Burgard P, Haas D, Sass JO, Nyhan WL, Hoffmann GF: Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry. Clin Chem, 2006; 52 (6): 1127-1137.
- Harttrampf AC, Matheiowetz P, Hermanns-Clausen M: [A rare but important differential diagnosis in consciousness disorders of unknown origin: carbon monoxide poisoning] MMW Fortschr Med, 2009; 151 (8): 34-36.
- Hasegawa D, Chen X, Hirabayashi S, Ishida Y, Watanabe S, Zaike Y, Tsuchida M, Masunaga A, Yoshimi A, Hama A, Kojima S, Ito M, Nakahata T, Manabe A: Clinical characterisics and treatment outcome in 65 cases with refractory cytopenia of childhood defined according to the WHO 2008 classification. Brit J Haematol, 2014; 166 (5): 758-766.
- Hashmi SK, Punia JN, Marcogliese AN, Gaikwad AS, Fisher KE, Roy A, Rao P, Lopez-Terrada DH, Ringrose J, Loh ML, Niemeyer CM, Rau RE: Sustained remission with azacitidine monotherapy and an aberrant precursor B-lymphoblast population in juvenile myelomonocytic leukemia. Pediatr Blood Cancer, 2019; 66 (10): e27905-e27905. : http://dx.doi.org/10.1002/pbc.27905
- Hasle H, Abrahamsson J, Arola M, Karow A, O'Marcaigh A, Reinhardt D, Webb DK, van Wering E, Zeller B, Zwaan CM, Vyas P: Myeloid leukemia in children 4 years or older with Down syndrome often lacks GATAL mutation and cytogenetics and risk of relapse are more akin to sporadic AML Leukemia, 2008; 22 (7): 1428-1430.
- Hasle H, Alonzo TA, Auvrignon A, Behar C, Chang M, Creutzig U, Fischer A, Forestier E, Fynn A, Haas OA, Harbott J, Harrison CJ, Heerema NA, van den Heuvel-Eibrink MM, Kaspers GJ, Locatelli F, Noellke P, Polychronopoulou S, Ravindranath Y, Razzouk B, Reinhardt D, Savva NN, Stark B, Suciu S, Tsukimoto I, Webb DK, Wojcik D, Woods WG, Zimmermann M, Niemeyer CM, Raimondi SC: Monosomy 7 and deletion 7q in children and adolescents with acute myeloid leukemia: an international retrospective study. Blood, 2007; 109 (11): 4641-4647. : http://dx.doi.org/10.1182/blood-2006-10-051342
- Hasle H, Arico M, Basso G, Biondi A, Cantu Rajnoldi A, Creutzig U, Fenu S, Fonatsch C, Haas OA, Harbott J, Kardos G, Kerndrup G, Mann G, Niemeyer CM, Ptoszkova H, Ritter J, Slater R, Stary J, Stollmann-Gibbels B, Testi AM, van Wering ER, Zimmermann M: Myelodysplastic syndrome, juvenile myelomonocytic leukemia, and acute myeloid leukemia associated with complete or partial monosomy 7. European Working Group on MDS in Childhood (EWOG-MDS). Leukemia, 1999; 13 (3): 376-385.
- Hasle H, Baumann I, Bergstrasser E, Fenu S, Fischer A, Kardos G, Kerndrup G, Locatelli F, Rogge T, Schultz KR, Stary J, Trebo M, van den Heuvel-Eibrink MM, Harbott J, Nollke P, Niemeyer CM: The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). Leukemia, 2004; 18 (12): 2008-2014. : http://dx.doi.org/10.1038/sj.leu.2403489
- Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, Head DR: Reply to Gassas et al. Leukemia, 2003; 17 (12): 2532-2532.
- Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, Head DR: A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia, 2003; 17 (2): 277-282. : http://dx.doi.org/10.1038/sj.leu.2402765
- Hasselbacher K, Wiggins RC, Matejas V, Hinkes BG, Mucha B, Hoskins BE, Ozaltin F, Nurnberg G, Becker C, Hangan D, Pohl M, Kuwertz-Broking E, Griebel M, Schumacher V, Royer-Pokora B, Bakkaloglu A, Nurnberg P, Zenker M, Hildebrandt F: Recessive missense mutations in LAMB2 expand the clinical spectrum of LAMB2-associated disorders. Kidney Int, 2006; 70 (6): 1008-1012.
- Hatz C, Werlein J, Mutsch M, Hufnagel M, Behrens RH: Japanese encephalitis: defining risk incidence for travelers to endemic countries and vaccine prescribing from the UK and Switzerland. J Travel Med, 2009; 16 (3): 200-203. : http://dx.doi.org/10.1111/j.1708-8305.2009.00334.x
- Hauck F, Blumenthal B, Fuchs S, Lenoir C, Martin E, Speckmann C, Vraetz T, Mannhardt-Laakmann W, Lambert N, Gil M, Borte S, Audrain M, Schwarz K, Lim A, Schamel WW, Fischer A, Ehl S, Rensing-Ehl A, Picard C, Latour S: SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling. Clin Immunol, 2015; 161 (2): 103-109. : http://dx.doi.org/10.1016/j.clim.2015.07.002
- Haug V, Korinthenberg R: Rhabdomyolyse und Myoglobinurie - verschiedene Manifestationen des gleichen Phänomens Pädiatrische Praxis, 2008; 71: 499-514.
- Haug V, Korinthenberg R, Omran H, Kirschner J: Extremer Erregungszustand als führendes Symptom einer Hemiplegischen Migräne mit ATP1A2-Mutation Neuropädiatrie in Klinik und Praxis, 2010; 2: 54-57.
- Haug V, Linder-Lucht M, Zieger B, Korinthenberg R, Mall V, Mader I: Unilateral venous thalamic infarction in a child mimicking a thalamic tumor J Child Neurol, 2009; 24: 105-109.
- Haug V,, Linder-Lucht M, Zieger B, Korinthenberg R, Mall V,, Mader I.: Unilateral venous thalamic infarction in a child mimicking a thalamic tumor. J Child Neurol, 2009; 24 (1): 105-109.
- Hauk P., Friedl K., Kaufmehl K., Urbanek R., Forster, J.: Subsequent insect stings in children with hymenoptera sensitivity. J. Pediatr., 1995; 126: 185-190.
- Hauk P., Otto J. Schwak K.O., Kaufmehl K., Eichler, H.G., Urbanek R., Forster J: Anaphylactic reactions to bee-sting challenges in allergic children are not modified by endogenous catecholamines. Ped Research, 1995; 38: 998-1002.
- Hausherr CK, Schiffer IB, Gebhard S, Banic A, Tanner B, Kolbl H, Thoenes E, Beckers T, Spangenberg C, Prawitt D, Trost T,, Zabel B,, Oesch F, Hermes M, Hengstler JG: Dephosphorylation of p-ERK1/2 in relation to tumor remission after HER-2 and Raf1 blocking therapy in a conditional mouse tumor model Mol Carcinogen, 2006; 45: 302-308.
- Havliza K, Jakob A, Rompel R: Erythema multiforme majus (Fuchs syndrome) associated with Mycoplasma pneumoniae infection in two patients. J Dtsch Dermatol Ges, 2009; 7 (5): 445-448. : http://dx.doi.org/10.1111/j.1610-0387.2008.06978.x
- Heers M, Hirschmann J, Jacobs J, Dumpelmann M, Butz M, von Lehe M, Elger CE, Schnitzler A, Wellmer J: Frequency domain beamforming of magnetoencephalographic beta band activity in epilepsy patients with focal cortical dysplasia. Epilepsy Res, 2014; 108 (7): 1195-1203. : http://dx.doi.org/10.1016/j.eplepsyres.2014.05.003
- Hefft S, Brandt A, Zwick S, von Elverfeldt D, Mader I, Cordeiro J, Trippel M, Blumberg J, Schulze-Bonhage A: Safety of hybrid electrodes for single-neuron recordings in humans Neurosurgery, 2013; 73 (1): 78-85.
- Heideking M,, Lander F, Hufnagel M,, Pfeifer Y, Wicker E, Krause G, Berner R: Antibiotic susceptibility profiles of neonatal invasive isolates of Escherichia coli from a 2-year nationwide surveillance study in Germany, 2009-2010. Eur J Clin Microbiol, 2013; 224: 1221-1223.
- Heil M, Podebrad F, Prado E, Beck T, Mosand A, Sewell AC, Böhles H, Lehnert W: Enantioselective analysis of ketone bodies in patiens with ß-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. J Chromatogr B, 2000; 739 (2): 313-324.
- Heilmann C, Geisen U, Beyersdorf F, Nakamura L, Benk C, Berchtold-Herz M, Trummer G, Schlensak C, Zieger B: Acquired von Willebrand syndrome in patients with ventricular assist device or total artificial heart Thromb Haemostasis, 2010; 103 (5): 962-967.
- Heilmann C, Geisen U, Beyersdorf F, Nakamura L, Trummer G, Berchtold-Herz M, Schlensak C, Zieger B: Acquired Von Willebrand syndrome is an early-onset problem in ventricular assist device patients. Eur J Cardio-thorac, 2011; 40 (6): 1328-1333. : http://dx.doi.org/10.1016/j.ejcts.2011.03.021
- Heilmann C, Trummer G, Beyersdorf F, Brehm K, Berchtold-Herz M, Schelling J, Geisen U *, Zieger B *: Acquired Von Willebrand syndrome in patients on long-term support with HeartMate II. Eur J Cardio-thorac, 2017; 51 (3): 587-590. : http://dx.doi.org/10.1093/ejcts/ezw348
- Heilmann C,, Geisen U, Benk C, Berchtold-Herz M, Trummer G, Schlensak C, Zieger B, Beyersdorf F.: Haemolysis in patients with ventricular assist devices: major differences between systems. Eur J Cardio-thorac, 2009; 36 (3): 580-584.
- Heilmann C *, Geisen U *, Beyersdorf F, Nakamura L, Benk C, Trummer G, Berchtold-Herz M, Schlensak C, Zieger B: Acquired von Willebrand syndrome in patients with extracorporeal life support (ECLS). Intens Care Med, 2012; 38 (1): 62-68. : http://dx.doi.org/10.1007/s00134-011-2370-6
- Heimpel H, Schwarz K, Ebnother M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Rössler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E: Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood, 2006; 107 (1): 334-340.
- Heinen F: Encephalitis. Kinderkrankenschwester, 1995; 14 (12): 518.
- Heinen F: Treatment of adductor muscles in children with cerebral palsy. LMB Public Relations, Kongressband Tagung Evian, 1995.
- Heinen F, Berweck S, Herrmann J, Linder M, Michaelis U, Stein S, Kirschner J, Mall V, Korinthenberg R: Botulinum-Toxin A: Lokale Pharmakotherapie bei spastischen Bewegungsstörungen im Kindesalter Kinderärztliche Praxis, 2001; 1: 18-32.
- Heinen F, Berweck S, Hufschmidt A, Korinthenberg R: Altersgebundene Charakteristika transkranieller Magnetstimulation und motorische Leistungstest. Monatsschr Kinderheilk, 1994; 142: 765.
- Heinen F, Döderlein L, Hustedt U, Fitzek U, Berweck S, Schröder S, Mall V, Wiedenhöfer B, Sprinz A, Benecke R, Behrens K.E., Wissel J, Krägeloh-Mann I: Botulinumtoxin für Kinder mit Zerebralparesen: 10-Punkte-Tabelle, 2007 Monatsschr Kinderh, 2007; 6: 537-543.
- Heinen F, Fietzek U, Maute S, Berweck S, Hufschmidt, A, Korinthenberg R: Entwicklung und Störung motorischer Kompetenz im Kindesalter: Neurophysiologische Beiträge der transkraniellen Magnetstimulation und motorischer Leistungstests. Monatsschr Kinderheilk, 1995; 143: 491.
- Heinen F, Greiner P, Müller H: Peptische Oesophagusstenose als Komplikation gastro-oesophagealer Gleithernie bei Cornelia de Lange-Syndrom, 44.Jahrestagung der süddeutschen Gesellschaft für Kinderheilkunde und Jugendmedizin. Monatsschr Kinderheilk, 1995; 143: 4,440.
- Heinen F, Korinthenberg R: Botulinum Toxin in pediatric indications. J Neurol Transm (Gen Sect, 1995; 102: XXI.
- Heinen F, Korinthenberg R: Does transcranial magnetic stimulation allow early diagnosis of Rett syndrome? Neuropediatrics, 1996; 27: 223-224.
- Heinen F, Korinthenberg R, Stücker R, Deuschl G: Dystonic posture of lower extremities associated with Myelomeningocele: Successful treatment with Botulinum A Toxin in a six month old child. Neuropediatrics, 1995; 26: 214-216.
- Heinen F, Korinthenberg R, Stücker R, Deuschl G., Botulinum A Toxin: Management of Dysfunctional Posture: One Year Follow up. Supplement No 72, March 1995/Vol37, 1995; 3: 58.
- Heinen F, Mall V, Korinthenberg R: Torticollis spasmodicus Monatsschr Kinderheilk, 1997; 145: 395-396.
- Heinen F, Mall V, Wissel J, Bernius P, Stücker R, Linder M, Philipsen A, Korinthenberg R: Botulinum Toxin A: Neue Möglichkeiten in der Behandlung spastischer Bewegungsstörungen Monatsschr Kinderheilk, 1997; 145: 1088-1092.
- Heinen F, Matern D, Pringsheim W, Leititis JU, Brandis M: Zinc deficiency in an exclusively breast-fed preterm infant. Eur. J. Pediatr., 1995; 154: 71-75.
- Heinen F, Matern D, Pringsheim W, Leititis JU, Brandis M: Zink deficiency in an exclusivly breast-fed preterm infant. Infant Nutrition Digest, 1995: 14-16.
- Heinen F, Petersen H, Fietzek U, Mall V, Schulte-Mönting J: Transcranial magnetic stimulation in patients with Rett-Syndrome: Preliminary results European Child & Adolescent Psychiatry, 1997; 6 Suppl.1: 61-63.
- Heinen F, Scheidt C E, Nickel T, Rayki O, Wissel J: Spasmodic torticollis - a multicentre study on behavioural aspects. II. Signs, symptoms and course Behav Neurol, 1996; 9: 81-88.
- Heinen F, Wissel J, Korinthenberg R, Poewe W, Deuschl G: Management of dystonic and spastic posture in children: treatment with botulinum A toxin. J Neurol, Suppl 2, Vol 242, 1995; 6: 46.
- Heinen F, Wissel J, Philipsen A, Korinthenberg R, Schenkel A, Poewe W, Deuschl G: Botulinum Toxin in der Pädiatrie - Ein Jahres Verlauf bei 20 Patienten. Gesamtverband Deutscher Nervenärzte, Abstraktband, 1995.
- Heinen F, Wissel J, Philipsen A, Mall V, Leititis JU: Interventional neuropediatrics: treatment of dystonic and spastic muscular hyperactivity with botulinum toxin A Neuropediatrics, 1997; 28: 307-313.
- HEINEN F, FIETZEK U, BERWECK S, HUFSCHMIDT A, DEUSCHL G, KORINTHENBERG R: Fast corticospinal system and motor performance in young school children: conduction proceeds skill. Pediatric Neurology, 1998; 19(3): 217-221.
- HEINEN F, GLOCKER F-X, FIETZECK U, MEYER B-U, LÜCKING C-H, KORINTHENBERG R: Absence of transcallosal inhibition following focal magnetic stimulation in preschool children. Annals of Neurology, 1998; 43: 606-612.
- HEINEN F, KIRSCHNER J, FIETZEK U, GLOCKER F-X, MALL V, KORINTHENBERG R: Absence of transkallosal inhibition in adolescents with diplegic cerebral palsy Muscle and Nerve, 1999; 22: 255-257.
- HEINEN F, LINDER M, MALL V, KIRSCHNER J, KORINTHENBERG R: Adductor spasticity in children with cerebral palsy and treatment with botulinum toxin typ A: the parents' view of functional outcome European Journal of Neurology, 1999; 4: 47-50.
- Heinen F,, Desloovere K, Schroeder AS, Berweck S, Borggraefe I, van Campenhout A, Andersen GL, Aydin R, Becher JG, Bernert G, Caballero IM, Carr L, Valayer EC, Desiato MT, Fairhurst C, Filipetti P, Hassink RI, Hustedt U, Jozwiak M, Kocer SI, Kolanowski E, Krägeloh-Mann I, Kutlay S, Mäenpää H, Mall V, McArthur P, Morel E, Papavassiliou A, Pascual-Pascual I, Pedersen S, Plasschaert FS, van der Ploeg I, Remy-Neris O, Renders A, Di Rosa G, Steinlin M, Tedroff K, Valls JV, Viehweger E, Molenaers G: The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy. Eur J Paediatr Neuro, 2010; 14 (1): 45-66.
- Heinen F., Mall V., Rückauer K.D., Greiner P., Sontheimer J., Brandis M., Korinthenberg R.: Lack of response to botulinum toxin A in patients with hypertrophic pyloric stenosis. Eur. J. Pediatr., 1999; 158: 436.
- Heining C, Spyridonidis A, Bernhardt E, Schulte-Monting J, Behringer D, Grullich C, Jakob A, Bertz H, Finke J: Lymphocyte reconstitution following allogeneic hematopoietic stem cell transplantation: a retrospective study including 148 patients. Bone Marrow Transpl, 2007; 39 (10): 613-622. : http://dx.doi.org/10.1038/sj.bmt.1705648
- Heinzinger M, Waller CF, Rostenstiel A, Scheid S, Lange W: Quality of IL-3 and G-CSF mobilized stem cells in patients with early chronic phase CML. Leukemia, 1998; 12: 333-339.
- Heinzmann A, Ahlert I, Kurz T, Berner R, Deichmann KA: Association study suggests opposite effects of polymorphisms within IL8on bronchial asthma and respiratory
syncytial virus bronchiolitis. J Allergy Clin Immun, 2004; 114 (3): 671-676.
- Heinzmann A, Blattmann S, Forster J, Kuehr J, Deichmann KA: Common polymorphisms and alternative splicing in the ILT3 gene are not associated with atopy. Eur J Immunogenet, 2000; 27: 121-127.
- Heinzmann A, Brugger M, Bierbaum S, Mailaparambil B, Kopp MV, Strauch K: Joint influences of Acidic-Mammalian-Chitinase with Interleukin-4 and Toll-like receptor-10 with Interleukin-13 in the genetics of asthma. Pediatr Allergy Immu, 2010; 21 (4 Pt 2): e679-e686. : http://dx.doi.org/10.1111/j.1399-3038.2010.01053.x
- Heinzmann A, Brugger M, Engels C, Prömpeler H, Superti-Furga A, Strauch K, Krueger M: Risk factors of neonatal respiratory distress following vaginal delivery and caesarean section in the German population. Acta Paediatr, 2009; 98 (1): 25-30. : http://dx.doi.org/10.1111/j.1651-2227.2008.01150.x
- Heinzmann A, Deichmann KA: Genetik der atopischen Dermatitis. Allergologie, 2001; 24: 397-407.
- Heinzmann A, Deichmann KA: Genes for Atopy and Asthma. Curr Opin Allergy Clin Immunol, 2001; 1: 387-392.
- Heinzmann A, Dietrich H, Deichmann KA: Association of UGRP1 with bronchial asthma. Int Arch Allergy Imm, 2003; 131 (4): 291-295.
- Heinzmann A, Gerhold K, Ganter K, Kurz T, Schuchmann L, Keitzer R, Berner R, Deichmann KA: Association study of polymorphisms within Interleukin 18 in juvenile idiopathic arthritis and bronchial asthma Allergy, 2004; 59 (8): 845-849.
- Heinzmann A, Grotherr P, Jerkic S-P, Lichtenberg A, Braun S, Kruse S, Forster J, Kühr J, Deichmann K.A: Studies on linkage and association of atopy with the chromosomal region 12q13-24 Clin Exp Allergy, 2000; 30 (11): 1555-1562.
- Heinzmann A, Mao X-Q, Akaiwa M, Kroemer R.T, Gao P-S, Ohshima K, Umeshita R, Abe Y, Braun S, Yamashita T, Roberts M.H, Sugimoto R, Arima K, Arinobu Y, Yu B, Kruse S, Enomoto T, Dake Y, Kawai M, Shimazu S, Sasaki S, Adra C.N, Kitaichi M, Inoue H, Yamauchi K, Tomichi N, Kurimoto F, Hamasaki N, Hopkin J.M, Izuhara K, Shirakawa T, Deichmann K.A: Genetic variants of IL-13 signalling and human asthma and atopy. Hum Mol Genet, 2000; 9 (4): 549-559.
- Heinzmann A, Mueller H, Forster J, Deichmann K.A.: Aminosäure-basierende Formula-Nahrung bei Soforttyp-Allergien auf Kuhmilch. Allergo J, 2001; 10: 37.
- Heinzmann A, Plesnar C, Kuehr J, Forster J, Deichmann KA: Common polymorphisms in the CTLA-4 and CD28 genes at 2q33 are not associated with asthma or atopy Eur J Immunogenet, 2000; 27: 57-61.
- Heinzmann A, Bauer E, Ganter K, Kurz T, Deichmann KA: Polymorphisms of the TGF-beta1 gene are not associated with bronchial asthma in Caucasian children. Pediatr Allergy Immu, 2005; 16 (4): 310-314.
- Heinzmann A, Mailaparambil B, Mingirulli N, Krueger M: Association of interleukin-13/-4 and toll-like receptor 10 with preterm births. Neonatology, 2009; 96 (1): 175-181.
- Heinzmann A., Blattmann S., Spuergin P., Forster J., Deichmann K.A.: The recognition of sequentiel B cell epitopes of ß-Lactoglobulin does not vary with the clinical manifestation of cow´s milk allergy. International Archives of Allergy and Immunology, 1999; 120(4): 280-286.
- Heise G, Lemmer J, Weng Y, Hubler M, Alexi-Meskishvili V, Bottcher W, Hetzer R, Berger F, Stiller B: Biomarker responses during mid-term mechanical cardiac support in children. J Heart Lung Transpl, 2008; 27 (2): 150-157. : http://dx.doi.org/10.1016/j.healun.2007.11.564
- Hellemans J, Simon M, Dheedene A,1 Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Andrea Superti-F,, Mortier G: Homozygous Inactivating Mutations
in the NKX3-2 Gene Result
in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Am J Hum Genet, 2009; 85: 916-922.
- Heller C, Heinecke A, Junker R, Knofler R, Kosch A, Kurnik K, Schobess R, von Eckardstein A, Strater R, Zieger B, Nowak-Gottl U; Childhood Stroke Study Group.: Cerebral venous thrombosis in children: a multifactorial origin. Circulation, 2003; 108: 1362-1367.
- Helou J,, Otto EA,, Attanasio M,, Allen SJ,, Parisi MA,, Glass I,, Utsch B,, Hashimi S,, Fazzi E,, Omran H,, O'Toole JF,, Sayer JA,, Hildebrandt F: Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet, 2007; 44 (10): 657-663.
- Helsmoortel HH, Bresolin S, Lammens T, Cave H, Noellke P, Caye A, Ghazavi F, de Vries A, Hasle H, Labarque V, Masetti R, Stary J, An den Heuvel-Eibrink MM, Philippe J, Van Roy N, Benoit Y, Speleman F, Niemeyer C, Flotho C, Basso G, Te Kronnie G, Van Vlierberghe P, De Moerloose B: LIN28B overexpression defines a novel fetal-like subgroup of juvenile myelomonocytic leukemia. Blood, 2016; 127 (9): 1163-1172. : http://dx.doi.org/10.1182/blood-2015-09-667808
- Helsmoortel HH, De Moerloose B, Pieters T, Ghazavi F, Bresolin S, Cave H, de Vries A, de Haas V, Flotho C, Labarque V, Niemeyer C, De Paepe P, Van Roy N, Stary J, van den Heuvel-Eibrink MM, Benoit Y, Schulte J, Goossens S, Berx G, Haigh JJ, Speleman F, Van Vlierberghe P, Lammens T: LIN28B is over-expressed in specific subtypes of pediatric leukemia and regulates lncRNA H19. Haematologica, 2016; 101 (6): e240-e244. : http://dx.doi.org/10.3324/haematol.2016.143818
- Hemmer MC, Wierer M, Schachtrup K, Downes M, Hubner N, Evans RM, Uhlenhaut NH: E47 modulates hepatic glucocorticoid action. Nat Commun, 2019; 10 (1): 306-306. : http://dx.doi.org/10.1038/s41467-018-08196-5
- Hengstler JG, Bockamp EO, Hermes M, Brulport M, Bauer A, Schormann W, Schiffer IB, Hausherr C, Eshkind L, Antunes C, Franzen A, Krishnamurthi K, Lausch E, Lessig R, Chakrabarti T, Prawitt D, Zabel B, Spangenberg C: Oncogene-blocking therapies: new insights from conditional mouse tumor models. Curr Cancer Drug Tar, 2006; 6 (7): 603-612.
- Heninger E, Otto E, Imm A, Caridi G, Hildebrandt F: Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. Am J Kidney Dis, 2001; 37: 1131-1139.
- Henneke P, Berner R: SIRS and group-B streptococcal sepsis in newborns: pathogenesis and perspectives in adjunctive therapy. Semin Fetal Neonatal Med, 2006; 11 (5): 333-342.
- Henneke P, Berner R: Interaction of neonatal phagocytes with group B streptococcus: recognition and response. Infect Immun, 2006; 74 (6): 3085-3095.
- Henneke P, Berner R: Interaction of neonatal phagocytes with group B streptococcus: recognition and response. Infect Immun, 2006; 74 (6): 3085-3095. : http://dx.doi.org/10.1128/IAI.01551-05
- Henneke P, Berner R: SIRS and group-B streptococcal sepsis in newborns: pathogenesis and perspectives in adjunctive therapy. Semin Fetal Neonat M, 2006; 11 (5): 333-342. : http://dx.doi.org/10.1016/j.siny.2006.03.003
- Henneke P, Dramsi S, Mancuso G, Chraibi K, Pellegrini E, Theilacker C, Hubner J, Santos-Sierra S, Teti G, Golenbock DT, Poyart C, Trieu-Cuot P: Lipoproteins are critical TLR2 activating toxins in group B streptococcal sepsis. J Immunol, 2008; 180 (9): 6149-6158.
- Henneke P, Dramsi S, Mancuso G, Chraibi K, Pellegrini E, Theilacker C, Hubner J, Santos-Sierra S, Teti G, Golenbock DT, Poyart C, Trieu-Cuot P: Lipoproteins are critical TLR2 activating toxins in group B streptococcal sepsis. J Immunol, 2008; 180 (9): 6149-6158.
- Henneke P, Golenbock DT: TIRAP: how Toll receptors fraternize. Nat Immunol, 2001; 2 (9): 828-830. : http://dx.doi.org/10.1038/ni0901-828
- Henneke P, Golenbock DT: Innate immune recognition of lipopolysaccharide by endothelial cells. Crit Care Med, 2002; 30 (5 Suppl): S207-S213.
- Henneke P, Golenbock DT: Innate immune recognition of lipopolysaccharide by endothelial cells. Crit Care Med, 2002; 30 (5 Suppl): S207-S213.
- Henneke P, Golenbock DT: Phagocytosis, innate immunity, and host-pathogen specificity. J Exp Med, 2004; 199 (1): 1-4. : http://dx.doi.org/10.1084/jem.20031256
- Henneke P, Morath S, Uematsu S, Weichert S, Pfitzenmaier M, Takeuchi O, Muller A, Poyart C, Akira S, Berner R, Teti G, Geyer A, Hartung T, Trieu-Cuot P, Kasper DL, Golenbock DT: Role of lipoteichoic acid in the phagocyte response to group B streptococcus. J Immunol, 2005; 174 (10): 6449-6455.
- Henneke P, Osmers I, Bauer K, Lamping N, Versmold HT, Schumann RR: Impaired CD14-dependent and independent response of polymorphonuclear leukocytes in preterm infants. J Perinat Med, 2003; 31 (2): 176-183. : http://dx.doi.org/10.1515/JPM.2003.024
- Henneke P, Osmers J, Bauer K, Lamping N, Versmold HT, Schumann RR: Impaired CD-14-dependent and independent response of polymorphonueclear leikocytes in preterm infants. J Perinat Med, 2003; 31 (2): 176-183.
- Henneke P, Takeuchi O, Malley R, Lien E, Ingalls RR, Freeman MW, Mayadas T, Nizet V, Akira S, Kasper DL, Golenbock DT: Cellular activation, phagocytosis, and bactericidal activity against group B streptococcus involve parallel myeloid differentiation factor 88-dependent and independent signaling pathways. J Immunol, 2002; 169 (7): 3970-3977.
- Henneke P, Takeuchi O, Malley R, Lien E, Ingalls RR, Freeman MW, Mayadas T, Nizet V, Akira S, Kasper DL, Golenbock DT: Cellular activation, phagocytosis, and bactericidal activity against group B streptococcus involve parallel myeloid differentiation factor 88-dependent and independent signaling pathways. J Immunol, 2002; 169 (7): 3970-3977.
- Henneke P, Takeuchi O, van Strijp JA, Guttormsen HK, Smith JA, Schromm AB, Espevik TA, Akira S, Nizet V, Kasper DL, Golenbock DT: Novel engagement of CD14 and multiple toll-like receptors by group B streptococci. J Immunol, 2001; 167 (12): 7069-7076.
- Henneke P, Morath S, Uematsu S, Weichert S, Pfitzenmaier M, Takeuchi O, Muller A, Poyart C, Akira S, Berner R, Teti G, Geyer A, Hartung T, Trieu-Cuot P, Kasper DL, Golenbock DT: Role of lipoteichoic acid in the phagocyte response to group B streptococcus. J Immunol, 2005; 174 (10): 6449-6455.
- Hennersdorf F, Florian S, Jakob A, Baumgartner K, Sonneck K, Nordheim A, Biedermann T, Valent P, Buhring HJ: Identification of CD13, CD107a, and CD164 as novel basophil-activation markers and dissection of two response patterns in time kinetics of IgE-dependent upregulation. Cell Res, 2005; 15 (5): 325-335. : http://dx.doi.org/10.1038/sj.cr.7290301
- Hennes E, Zotter S, Dorninger L, Hartmann H, Häusler M, Huppke P, Jacobs J, Kraus V, Makowski C, Schlachter K, Ulmer H, van Baalen A, Koch J, Gotwald T, Rostasy K: Long-term outcome of children with acute cerebellitis. Neuropediatrics, 2012; 43 (5): 240-8.
- Hennies I, Gimpel C, Gellermann J, Moller K, Mayer B, Dittrich K, Buscher AK, Hansen M, Aulbert W, Wuhl E, Nissel R, Schalk G, Weber LT, Pohl M, Wygoda S, Beetz R, Klaus G, Fehrenbach H, Konig S, Staude H, Beringer O, Bald M, Walden U, von Schnakenburg C, Bertram G, Wallot M, Haeffner K, Wiech T, Hoyer PF, Pohl M: Presentation of pediatric Henoch-Schonlein purpura nephritis changes with age and renal histology depends on biopsy timing. Pediatr Nephrol, 2018; 33 (2): 277-286. : http://dx.doi.org/10.1007/s00467-017-3794-1
- Henschen M, Firscher T, Pracht T, Spiekerköter E, Karmaus W, Meinert R, Lehnert W, Werle E, Kühr J: The internal dose of passive smoking at home depends on the size of the dwelling. Environ. Res., 1997; 72: 65-71.
- Henschen M, Hoo AF, Dixon P, Stocks J: The raised volume technique: search for a correct way of data analysis in infants less than 2 months of age. Journal of Applied Physiology, 1998; 85(5): 1989-1997.
- Henschen M, Stocks J: Assessement of airway function using partial expiratory flow volume curves: How reliable is VmaxFRC during early infancy? American Journal of Respiratory and Critical Care Medicine, 1999; 159: 480-486.
- Henschen M,, Stocks J,, Brookes I,, Frey U.: New aspects of airway mechanics in pre-term infants. Eur Respir J, 2006; 27: 913-920.
- Hentschel M, Gildein P, Brandis M, Zimmerhackl LB: Endothelin (ET-1) is involved in the contrast media induced nephrotoxicity in children with congenital heart disease. Clinical Nephrology, 1995; 43 (Suppl. 1): 12-15.
- Hentschel R: Die Bedeutung des Geburtsgewichtes und der Schwangerschaftsdauer in der modernen Neonatologie. Geburtsh Frauenheilk, 2005; 65: 272-278.
- Hentschel R: Beatmungssteuerung mit Hilfe von Messwerten des Drucks und des Gasflusses. Neonatologie Scan, 2017; 05 (04): 297-315. : http://10.1055/s-0042-107448
- Hentschel R, Brune T, Franke N, Harms E, Jorch G: Sequential changes in compliance and resistance after bolus administration or slow infusion of surfactant in preterm infants. Intens Care Med, 2002; 28 (5): 622-628.
- Hentschel R, Guenther K, Vach W, Bruder I: Risk-adjusted mortality of VLBW infants in high-volume versus low-volume NICUs. Arch Dis Child-fetal, 2018. : http://10.1136/archdischild-2018-314956 (in Druck)
- Hentschel R, Guenther K, Vach W, Bruder I: Risk-adjusted mortality of VLBW infants in high-volume versus low-volume NICUs Arch Dis Child-fetal, 2019; 104: F390-F395.
- Hentschel R, Jorch G: Acute side effects of surfactant treatment. J Perinat Med, 2002; 30 (2): 143-148.
- Hentschel R, Lödige B, Bulla M: Renal insufficiency in the neonatal period. Clin. Nephrol., 1996; 46: 54-58.
- Hentschel R, Semar N, Guttmann J: Inspiratory capacity at inflation hold in ventilated newborns: a surrogate measure for static compliance of the respiratory system. Pediatr Crit Care Me, 2012; 13 (5): 560-567. : http://dx.doi.org/10.1097/PCC.0b013e31823c99f5
- Hentschel R, Suska A, Volbracht A, Brune T, Jorch G: Modification of the open circuit N2, washout technique for measurement of functional residual capacity in premature infants. Ped Pulm, 1997; 23: 434-441.
- Hentschel R, Suska A, Volbracht A, Harms E, Haberland H, Jorch G: Physical effects of heliox versus oxygen on measurements of functional residual capacity by the nitrogen washout technique in small lung volumes: a model study. Pediatr Pulm, 2001; 31: 255-260.
- Hentschel R, Willital G, Hülskamp G, Rieger C: Airway compression following the development of thymus hyperplasia in an infant with Pierre Robin sequence and congenital diaphragmatic hernia. Pediatr Pulm, 2001; 32: 476-479.
- Hentschel R,, Bingel C, Dittrich F, Wauer R, Westmeier W, Gortner L: Neurodevelopmental outcome and pulmonary morbidity 2 years after early versus late surfactant treatment : Does it really differ? Acta Paediatr, 2009; 98: 654-659.
- Hentschel R,, Buntzel J, Guttmann J, Schumann S: Endotracheal tube resistance and inertance in a model of mechanical ventilation of newborns and small infants - the impact of ventilator settings on tracheal pressure swings. Physiol Meas, 2011; 32: 1439-1451.
- Hentschel R,, Mohr T,, Pelz K,, Zahradnik HP,, Beck KH :: Red blood cells and plasma harvested from cord blood of premature and mature infants: sterility and indicators of quality for early retransfusion. J Neonatal-Perinatal Med 4, 1-8 (2011), 2011; 4 (1): 1-8.
- Hentschel R, Lindner K, Krueger M, Reiter-Theil S.: Restriction of ongoing intensive care in neonates: a prospective study. Pediatrics, 2006; 118 (2): 563-569.
- Hentschel R.: Besonderheiten ethischer Fragestellungen in der Neonatalogie. Ethik i. d. Medizin, 1999; 11: 246-248.
- Hentschel R.: Die Lunge des Neugeborenen. Neonatologie Scan, 2014; 3: 49-72.
- Hentschel R., Wiescholek U., von Lenerke J., Harms E., Jorch G.: Coagulation-associated complications of indwelling arterial and central venous catheters during heparin prophylaxis - a prospective study. Eur. J. Ped., 1999; 158: 126-129.
- Herbst A, Kordonouri O, Schwab KO, Schmidt F, Holl RW: Impact of physical activity on cardiovascular risk factors in children with type 1 diabetes: a multicenter study of 23,251 patients. Diabetes Care, 2007; 30 (8): 2098-2100.
- Herdy J, Schafer S, Kim Y, Ansari Z, Zangwill D, Ku M, Paquola A, Lee H, Mertens J, Gage FH: Chemical modulation of transcriptionally enriched signaling pathways to optimize the conversion of fibroblasts into neurons. Elife, 2019; 8. : http://dx.doi.org/10.7554/eLife.41356
- Herget GW, Kontny U, Saueressig U, Baumhoer D, Hauschild O, Elger T, Sudkamp NP, Uhl M: [Osteochondroma and multiple osteochondromas : Recommendations on the diagnostics and follow-up with special consideration to the occurrence of secondary chondrosarcoma.] Radiologe, 2013; 53 (12): 1125-1136. : http://dx.doi.org/10.1007/s00117-013-2571-9
- Hermanns-Clausen M: Akute Vergiftungen im Kindesalter intensivmedizin up2date, 2014; 10 (3): 261-279. : http://dx.doi.org/10.1055/s-0034-1365460 (download: http://https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0034-1365460)
- Hermanns-Clausen M, Kithinji J, Spehl M, Angerer V, Franz F, Eyer F, Auwarter V: Adverse effects after the use of JWH-210 - a case series from the EU Spice II plus project. Drug Test Anal, 2016; 8 (10): 1030-1038. : http://dx.doi.org/10.1002/dta.1936
- Hermanns-Clausen M, Kneisel S, Hutter M, Szabo B, Auwarter V: Acute intoxication by synthetic cannabinoids-four case reports. Drug Test Anal, 2013; 5 (9-10): 790-794. : http://dx.doi.org/10.1002/dta.1483 (download: http://onlinelibrary.wiley.com/doi/10.1002/dta.1483/abstract)
- Hermanns-Clausen M, Kneisel S, Szabo B, Auwarter V: Acute toxicity due to the confirmed consumption of synthetic cannabinoids: clinical and laboratory findings. Addiction, 2013; 108 (3): 534-544. : http://dx.doi.org/10.1111/j.1360-0443.2012.04078.x (download: http://onlinelibrary.wiley.com/doi/10.1111/j.1360-0443.2012.04078.x/abstract;jsessionid=023D50B2F6EC7A59CDE7878D5E42BCAC.f03t02)
- Hermanns-Clausen M, Müller D, Kithinji J, Angerer V, Franz F, Eyer F, Neurath H, Liebetrau G, Auwarter V: Acute side effects after consumption of the new synthetic cannabinoids AB-CHMINACA and MDMB-CHMICA. Clin Toxicol, 2018; 56 (6): 404-411. : http://dx.doi.org/10.1080/15563650.2017.1393082 (download: https://www.tandfonline.com/doi/abs/10.1080/15563650.2017.1393082?journalCode=ictx20)
- Hermanns-Clausen M, Scherrer E, Stedtler U: Manifeste Intoxikationen im Kindesalter – Ursachen und Vergiftungsumstände. Pädiatrische Praxis, 2006; 67: 633-643.
- Hermanns-Clausen M, Sydow A, Desel H: Klinische Symptomatik von Metoprololüberdosierungen in Abhängigkeit von der eingenommenen Dosis Intensivmedizin und Notfallmedizin, 2005; 42: 47-52.
- Hermanns-Clausen M, Weinmann W, Auwarter V, Ferreiros N, Trittler R, Muller C, Pahl A, Superti-Furga A, Hentschel R: Drug dosing error with drops: severe clinical course of codeine intoxication in twins. Eur J Pediatr, 2009; 168 (7): 819-824. : http://dx.doi.org/10.1007/s00431-008-0842-7
- Hermanns-Clausen M, Scherrer E, Stedtler U: Manifeste Intoxikationen im Kindesalter Ursachen und Vergiftungsumstände. tägliche praxis, 2006; 47: 305-315.
- Hermanns-Clausen M, Schindler F, Stedtler U, Zilker T, Felgenhauer N.: [Poisoning by the autumn crocus plant] MMW Fortschr Med, 2006; 148 (12): 45-47.
- Hermanns-Clausen M., Rauch F: Schwere Amitriptylinvergiftung mit Hypocalciämie. Intensivmedizin und Notfallmedizin, 2004; 41: 99-104.
- Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A: Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. (Correction in: Am J Hum Genet, 2008; 83(2): p293. Am J Hum Genet, 2008; 82 (6): 1368-1374 .
- Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG: RMRP mutations in cartilage-hair hypoplasia. Am J Med Genet A, 2006; 140 (19): 2121-2130.
- Hermes M, Schormann W, Brulport M, Uhlemann K, Lupatsch F, Horn LC, Schumann A, Allgaier C, Weishaupt M, Engeland K, Muller GA, Mossner J, Bauer A, Schiffer IB, Gebhard S, Schmidt M, Lausch E, Prawitt D, Wilhelm C, Hengstler JG: Trastuzumab therapy vs tetracycline controlled ERBB2 downregulation: influence on tumour development in an ERBB2-dependent mouse tumour model. Brit J Cancer, 2008; 98 (9): 1525-1532. : http://dx.doi.org/10.1038/sj.bjc.6604318
- Hermes M, Schormann W, Brulport M, Uhlemann K, Lupatsch F, Horn LC, Schumann A, Allgaier C, Weishaupt M, Engeland K, Müller GA, Mössner J, Bauer A, Schiffer IB, Gebhard S, Schmidt M, Lausch E, Prawitt D, Wilhelm C, Hengstler JG.: Trastuzumab therapy vs tetracycline controlled ERBB2 downregulation: influence on tumour development in an ERBB2-dependent mouse tumour model. Brit J Cancer, 2008; 98 (9): 1525-1532.
- Herrmann J, Geth K, Mall V, Bigalke H, Schulte Mönting J, Linder M, Kirschner J, Berweck S, Korinthenberg R, Heinen F, Fietzek U: Clinical Impact of Antibody Formation to Botulinum Toxin A in Children Ann Neurol, 2004; 55: 732-735.
- Herrmann J, Mall V, Bigalke H, Geth K, Korinthenberg R, Heinen F: Secondary Non-Response due to Development of Neutralising Antibodies to Botulinum Toxin A during Treatment of Children with Cerebral Palsy Neuropediatrics, 2000; 31: 333-334.
- Herrtwich L, Nanda I, Evangelou K, Nikolova T, Horn V, Sagar, Erny D, Stefanowski J, Rogell L, Klein C, Gharun K, Follo M, Seidl M, Kremer B, Munke N, Senges J, Fliegauf M, Aschman T, Pfeifer D, Sarrazin S, Sieweke MH, Wagner D, Dierks C, Haaf T, Ness T, Zaiss MM, Voll RE, Deshmukh SD, Prinz M, Goldmann T, Holscher C, Hauser AE, Lopez-Contreras AJ, Grun D, Gorgoulis V, Diefenbach A, Henneke P, Triantafyllopoulou A: DNA Damage Signaling Instructs Polyploid Macrophage Fate in Granulomas. Cell, 2016; 167 (5): 1264-1280.e18. : http://dx.doi.org/10.1016/j.cell.2016.09.054
- Hertz M, Mahalingam S, Dalum I, Klysner S, Mattes J, Neisig A, Mouritsen S, Foster PS, Gautam A.: Active vaccination against IL-5 bypasses immunological tolerance and ameliorates experimental asthma. J Immunol, 2001; 167: 3792-3799.
- Herz C, Hertrampf A, Zimmermann S, Stetter N, Wagner M, Kleinhans C, Erlacher M, Schüler J, Platz S, Rohn S, Mersch-Sundermann V, Lamy E: The isothiocyanate erucin abrogates telomerase in hepatocellular carcinoma cells in vitro and in an orthotopic xenograft tumour model of HCC. J Cell Mol Med, 2014; 18 (12): 2393-2403. : http://dx.doi.org/10.1111/jcmm.12412
- Hesse J., Braun C., Behringer S., Matysiak U., Spiekerkoetter U., Tucci S.: The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD). J Inherit Metab Dis, 2018; 41 (6): 1169-1178. : http://dx.doi.org/10.1007/s10545-018-0245-5
- Hettmer S, Archer NM, Somers GR, Novokmet A, Wagers AJ, Diller L, Rodriguez-Galindo C, Teot LA, Malkin D: Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Cancer Cytopathol, 2014; 120 (7): 1068-1075. : http://dx.doi.org/10.1002/cncr.28507
- Hettmer S, Bronson RT, Wagers AJ: Distinct malignant behaviors of mouse myogenic tumors induced by different oncogenetic lesions. Front Oncol, 2015; 5 (online): 50-50. : http://dx.doi.org/10.3389/fonc.2015.00050
- Hettmer S, Lin MM, Tchessalova D, Tortorici SJ, Castiglioni A, Desai T, Mao J, McMahon AP, Wagers AJ: Hedgehog-driven myogenic tumors recapitulate skeletal muscle cellular heterogeneity. Exp Cell Res, 2016; 340 (1): 43-52. : http://dx.doi.org/10.1016/j.yexcr.2015.10.008
- Hettmer S, Li Z, Billin AN, Barr FG, Cornelison DD, Ehrlich AR, Guttridge DC, Hayes-Jordan A, Helman LJ, Houghton PJ, Khan J, Langenau DM, Linardic CM, Pal R, Partridge TA, Pavlath GK, Rota R, Schafer BW, Shipley J, Stillman B, Wexler LH, Wagers AJ, Keller C: Rhabdomyosarcoma: current challenges and their implications for developing therapies. Csh Perspect Med, 2014; 4 (11): a025650-a025650. : http://dx.doi.org/10.1101/cshperspect.a025650
- Hettmer S, Schinzel AC, Tchessalova D, Schneider M, Parker CL, Bronson RT, Richards NG, Hahn WC, Wagers AJ: Functional genomic screening reveals asparagine dependence as a metabolic vulnerability in sarcoma. Elife, 2015; 4: e09436-e09436. : http://dx.doi.org/10.7554/eLife.09436
- Hettmer S, Teot LA, Kozakewich H, Werger AM, Davies KJ, Fletcher CD, Grier HE, Rodriguez-Galindo C, Wagers AJ: Myogenic Tumors in Nevoid Basal Cell Carcinoma Syndrome. J Pediat Hematol Onc, 2015; 37 (2): 147-149. : http://dx.doi.org/10.1097/MPH.0000000000000115
- Heuertz S, Le Merrer M,, Zabel B,, Wright M, Legeai-Mallet L, Cormier-Daire V, Gibbs L, Bonaventure J: Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia Eur J Hum Genet, 2006; 12: 1240-1247.
- Hildebrandt, F.: Genetic renal disease. Curr Opinion Pediat, 1995; 7: 182-191.
- Hildebrandt, F., Singh-Sawhney, I., Schnieders, B., Papenfuss, T., and Brandis, M. and Members of the APN, Study Group.: Refined genetic mapping of a gene for familial juvenile nephronophthisis (NPH1) and physical mapping of linked markers. Genomics, 1995; 25: 360-364.
- Hildebrandt, F., Weber, M. und Brandis, M.: Hereditäre Erkrankungen der Niere. Internist, 1995; 36: 254-262.
- Hildebrandt F, Cybulla M, Strahm B, Nothwang HG, Singh-Sawhney I, Berz K, Nicklin M, Reiner O, Brandis M: Physical mapping of the gene for juvenile nephronophthisis (NPH1) by construction of a complete YAC contig of 6.5 Mb on chromosome 2a13. Cytogent Cell Genet, 1996; 73: 235-239.
- Hildebrandt F, Nothwang H.G., Vossmerbäumer U, Springer C, Strahm B, Hoppe B, Keuth B, Fuchshuber A, Querfeld U, Neuhaus TJ, Brandis M, Members of the APN Study, Group: Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. Pediatr. Nephrol., 1998; 12: 16-19.
- Hildebrandt F, Omran H: New insights: nephronophthisis-medullary cystic kidney disease. Pediatr Nephrol, 2001; 16: 168-176.
- Hildebrandt F, Otto E: Molecular genetics of nephronophthisis and medullary cystic kidney disease J Am Soc Nephrol, 2000; 11 (9): 1753-1761. : http://www.jasn.org/cgi/content/abstract/11/9/1753
- Hildebrandt F, Otto E, Rensing C, Nothwang HG, Vollmer M, Adophs J, Hanusch H, Brandis M: A novel gene encoding an SH3 domain protein is mutated in nephronophtisis type 1. Nature Genet, 1997; 17: 149-153.
- Hildebrandt F, Rensing C, Beetz RC, Sommer U, Birnbaum S, Imm A, Omran H, Leipoldt M, Otto E, the Arbeitsgemeinschaft für Paediatrische Nephrologie (APN) Study Group: Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney Int, 2001; 59 (2): 434-445.
- Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, Kutt R, Vollmer M, Brandis M, and Members of the APN Study, Group: Molecular genetic identification of families with juvenile nephronophthise type 1: rate of progression to renal failure. Kidney Int., 1997; 51: 261-269.
- Hildebrandt F, Strahm B, Prochoroff A, Cybulla M, Gemperle O, Krapf R, Brandis M: Glomerulopathy associated with prediominant fibronectin deposits. Exclusion of the genes for fibronectin, villin and desmin as causative genes. Am J Med Genet, 1996; 63: 323-327.
- Hildebrandt F, Vollmer M, Proesmans W, Brandis M, (International Collaborative, Study Group for Bartter-Like, Syndromes, Group 4): Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROM-K, cause the antenatal variant of Bartter Syndrome: evidence for genetic heterogeneity. Hum. Mol. Genet., 1997; 6: 17-26.
- Hildebrandt G, Corrion L, Olkiewicz K, Lu B, Lowler K, Duffner U, Moore B, Kuziel W, Liu C, Cooke K: Blockade of CXCR3 Receptor: Ligand interactions reduces leukocyte recruitment to the lung and the severity of experimental idiopathic pneumonia syndrome J Immunol, 2004; 173: 2050-2059.
- Hildebrandt G, Duffner U, Olkiewicz K, Corrion L, Willmarth N, Williams D, Clouthier S, Hogaboam C, Reddy P, Moore B, Kuziel W, Liu C, Yanik G, Cooke K: A critical role for CCR2/MCP-1 interactions in the development of idiopathic pneumonia syndrome after allogeneic bone marrow transplantation Blood, 2004; 103: 2417-2426.
- HILLER J, JAKOB A: [The radioisotopes; an introductive description of their biological and medical use]. Strahlentherapie Sonderb, 1952; 28: 1-248.
- HILLER J, JAKOB A, STRAUSS E: [Determination of the effect of thyreostatic substances with radioiodine]. Strahlentherapie, 1952; 87 (1): 158-159.
- HILLER J, JAKOB A, STRAUSS E: [Analysis of the normal and pathological iron metabolism with radioiron]. Strahlentherapie, 1953; 89 (4): 596-599.
- HILLER J, STRAUSS E, JAKOB A: [Effect of hypermizing substances on resorption of labeled salt solutions; studies with radioiodine]. Arzneimittel-forsch, 1953; 3 (10): 515-517.
- Hindersin S, Niemeyer CM, Germing U, Gobel U, Kratz CP: Mutation analysis of CUTL1 in childhood myeloid neoplasias with monosomy 7. Leukemia Res, 2007; 31 (9): 1323-1324. : http://dx.doi.org/10.1016/j.leukres.2006.10.021
- Hindersin S, Niemeyer CM, Germing U, Göbel U, Kratz CP: Mutation analysis of CUTL1 in childhood myeloid neoplasias with monosomy 7. Leukemia Res, 2006. (in Druck)
- Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F: Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet, 2006; 38 (12): 1397-1405.
- Hinze CH, Holzinger D, Lainka E, Haas JP, Speth F, Kallinich T, Rieber N, Hufnagel M, Jansson AF, Hedrich C, Winowski H, Berger T, Foeldvari I, Ganser G, Hospach A, Huppertz HI, Monkemoller K, Neudorf U, Weissbarth-Riedel E, Wittkowski H, Horneff G, Foell D: Practice and consensus-based strategies in diagnosing and managing systemic juvenile idiopathic arthritis in Germany. Pediatr Rheumatol, 2018; 16 (1): 7-7. : http://dx.doi.org/10.1186/s12969-018-0224-2
- Hinze CH,, Holzinger D,, Lainka E,, Haas JP,, Speth F,, Kallinich T,, Minden K,, Rieber N,, Hufnagel M,, Jansson A,, Hedrich C,, Winowski H,, Horneff G,, Foell D: Harmonisierung der Diagnostik und Therapie der systemischen juvenilen idiopathischen Arthritis in Deutschland: Prozessbeschreibung und Kernaussagen. Arthritis + Rheuma, 2017; 37: 250-259.
- Hirabayashi S, Flotho C, Moetter J, Heuser M, Hasle H, Gruhn B, Klingebiel T, Thol F, Schlegelberger B, Baumann I, Strahm B, Stary J, Locatelli F, Zecca M, Bergstraesser E, Dworzak M, van den Heuvel-Eibrink MM, De Moerloose B, Ogawa S, Niemeyer CM, Wlodarski MW, on European Working Group of MDS in Childhood: Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML Blood, 2012; 119 (11): e96-e99.
- Hirabayashi S, Wlodarski MW, Kozyra E, Niemeyer CM: Heterogeneity of GATA2-related myeloid neoplasms. Int J Hematol, 2017; 106 (2): 175-182. : http://dx.doi.org/10.1007/s12185-017-2285-2
- Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, Ikegawa S: Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med, 2007; 13 (11): 1363-1367.
- Hirtler D, Garcia J, Barker AJ, Geiger J: Assessment of intracardiac flow and vorticity in the right heart of patients after repair of tetralogy of Fallot by flow-sensitive 4D MRI. Eur Radiol, 2016; 26 (10): 3598-3607. : http://dx.doi.org/10.1007/s00330-015-4186-1
- Hirtler D, Geiger J, Jung B, Markl M, Arnold R: 4-D MRI flow analysis in the course of interrupted aortic arch reveals complex morphology and quantifies amount of collateral blood flow. Pediatr Radiol, 2013; 43 (8): 1037-1040. : http://dx.doi.org/10.1007/s00247-013-2641-1
- Hirtz S, Gonska T, Seydewitz HH, Thomas J, Greiner P, Kuehr J, Brandis M, Eichler I, Rocha H, Lopes AI, Barreto C, Ramalho A, Amaral MD, Kunzelmann K, Mall M: CFTR Cl-channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. Gastroenterology, 2004; 127: 1085-1095.
- Hjeij R, Lindstrand A, Francis R, Zariwala MA, Liu X, Li Y, Damerla R, Dougherty GW, Abouhamed M, Olbrich H, Loges NT, Pennekamp P, Davis EE, Carvalho CM, Pehlivan D, Werner C, Raidt J, Kohler G, Häffner K, Reyes-Mugica M, Lupski JR, Leigh MW, Rosenfeld M, Morgan LC, Knowles MR, Lo CW, Katsanis N, Omran H: ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry. Am J Hum Genet, 2013; 93 (2): 357-367. : http://dx.doi.org/10.1016/j.ajhg.2013.06.009
- Hoben IM, Hjeij R, Olbrich H, Dougherty GW, Nothe-Menchen T, Aprea I, Frank D, Pennekamp P, Dworniczak B, Wallmeier J, Raidt J, Nielsen KG, Philipsen MC, Santamaria F, Venditto L, Amirav I, Mussaffi H, Prenzel F, Wu K, Bakey Z, Schmidts M, Loges NT, Omran H: Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. Am J Hum Genet, 2018; 102 (5): 973-984. : http://dx.doi.org/10.1016/j.ajhg.2018.03.025
- Hockauf H, Jakob A, Lohmuller J, Anslik I: [When the world suddenly joins apparatus]. Pflege Aktuell, 2003; 57 (10): 504-506.
- Hocker B, Aguilar M, Schnitzler P, Pape L, Bald M, Konig J, Marks SD, Genc G, Buscher A, Kemper MJ, Billing H, Pohl M, Dello Strologo L, Webb NJA, Rieger S, Mankertz A, Krupka K, Bruckner T, Fichtner A, Tonshoff B: Vaccination titres pre- and post-transplant in paediatric renal transplant recipients and the impact of immunosuppressive therapy. Pediatr Nephrol, 2018; 33 (5): 897-910. : http://dx.doi.org/10.1007/s00467-017-3868-0
- Hocker B, Aguilar M, Schnitzler P, Pape L, Dello Strologo L, Webb NJA, Bald M, Genc G, Billing H, Konig J, Buscher A, Kemper MJ, Marks SD, Pohl M, Wigger M, Topaloglu R, Rieger S, Krupka K, Bruckner T, Fichtner A, Tonshoff B: Incomplete vaccination coverage in European children with end-stage kidney disease prior to renal transplantation. Pediatr Nephrol, 2018; 33 (2): 341-350. : http://dx.doi.org/10.1007/s00467-017-3776-3
- Hocker B, Bohm S, Fickenscher H, Kusters U, Schnitzler P, Pohl M, John U, Kemper MJ, Fehrenbach H, Wigger M, Holder M, Schroder M, Feneberg R, Kopf-Shakib S, Tonshoff B: (Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation. Transpl Int, 2012; 25 (7): 723-731. : http://dx.doi.org/10.1111/j.1432-2277.2012.01485.x
- Hocker B, Fickenscher H, Delecluse HJ, Bohm S, Kusters U, Schnitzler P, Pohl M, John U, Kemper MJ, Fehrenbach H, Wigger M, Holder M, Schroder M, Billing H, Fichtner A, Feneberg R, Sander A, Kopf-Shakib S, Susal C, Tonshoff B: Epidemiology and morbidity of epstein-barr virus infection in pediatric renal transplant recipients: a multicenter, prospective study. Clin Infect Dis, 2013; 56 (1): 84-92. : http://dx.doi.org/10.1093/cid/cis823
- Hocker B, Schneble L, Murer L, Carraro A, Pape L, Kranz B, Oh J, Zirngibl M, Dello Strologo L, Buscher A, Weber LT, Awan A, Pohl M, Bald M, Printza N, Rusai K, Peruzzi L, Topaloglu R, Fichtner A, Krupka K, Koster L, Bruckner T, Schnitzler P, Hirsch HH, Tonshoff B: Epidemiology of and Risk Factors for BK Polyomavirus Replication and Nephropathy in Pediatric Renal Transplant Recipients: An International CERTAIN Registry Study. Transplantation, 2018. : http://dx.doi.org/10.1097/TP.0000000000002414 (in Druck)
- Hocker B, Schneble L, Murer L, Carraro A, Pape L, Kranz B, Oh J, Zirngibl M, Dello Strologo L, Buscher A, Weber LT, Awan A, Pohl M, Bald M, Printza N, Rusai K, Peruzzi L, Topaloglu R, Fichtner A, Krupka K, Koster L, Bruckner T, Schnitzler P, Hirsch HH, Tonshoff B: Epidemiology of and Risk Factors for BK Polyomavirus Replication and Nephropathy in Pediatric Renal Transplant Recipients: An International CERTAIN Registry Study. Transplantation, 2019; 103 (6): 1224-1233. : http://dx.doi.org/10.1097/TP.0000000000002414
- Hocker B, Weber LT, Feneberg R, Drube J, John U, Fehrenbach H, Pohl M, Zimmering M, Frund S, Klaus G, Wuhl E, Tonshoff B: Prospective, randomized trial on late steroid withdrawal in pediatric renal transplant recipients under cyclosporine microemulsion and mycophenolate mofetil. Transplantation, 2009; 87 (6): 934-941. : http://dx.doi.org/10.1097/TP.0b013e31819b6d4a
- Hocker B, Weber LT, John U, Drube J, Fehrenbach H, Klaus G, Pohl M, Seeman T, Fichtner A, Wuhl E, Tonshoff B: Steroid withdrawal improves blood pressure control and nocturnal dipping in pediatric renal transplant recipients: analysis of a prospective, randomized, controlled trial. Pediatr Nephrol, 2018. : http://dx.doi.org/10.1007/s00467-018-4069-1 (in Druck)
- Hocker B, Weber LT, John U, Drube J, Fehrenbach H, Klaus G, Pohl M, Seeman T, Fichtner A, Wuhl E, Tonshoff B: Steroid withdrawal improves blood pressure control and nocturnal dipping in pediatric renal transplant recipients: analysis of a prospective, randomized, controlled trial. Pediatr Nephrol, 2019; 34 (2): 341-348. : http://dx.doi.org/10.1007/s00467-018-4069-1
- Hocker B, Zencke S, Krupka K, Fichtner A, Pape L, Dello Strologo L, Guzzo I, Topaloglu R, Kranz B, Konig J, Bald M, Webb NJ, Noyan A, Dursun H, Marks S, Yalcinkaya F, Thiel F, Billing H, Pohl M, Fehrenbach H, Bruckner T, Tonshoff B: Cytomegalovirus Infection in Pediatric Renal Transplantation and the Impact of Chemoprophylaxis With (Val-)Ganciclovir. Transplantation, 2016; 100 (4): 862-870. : http://dx.doi.org/10.1097/TP.0000000000000888
- Hocker B, Zencke S, Pape L, Krupka K, Koster L, Fichtner A, Dello Strologo L, Guzzo I, Topaloglu R, Kranz B, Konig J, Bald M, Webb NJ, Noyan A, Dursun H, Marks S, Ozcakar ZB, Thiel F, Billing H, Pohl M, Fehrenbach H, Schnitzler P, Bruckner T, Ahlenstiel-Grunow T, Tonshoff B: Impact of Everolimus and Low-Dose Cyclosporin on Cytomegalovirus Replication and Disease in Pediatric Renal Transplantation. Am J Transplant, 2016; 16 (3): 921-929. : http://dx.doi.org/10.1111/ajt.13649
- Höcker B, Weber LT, Feneberg R, Drube J, John U, Fehrenbach H, Pohl M, Zimmering M, Frund S, Klaus G, Wuhl E, Tonshoff B: Improved growth and cardiovascular risk after late steroid withdrawal: 2-year results of a prospective, randomised trial in paediatric renal transplantation. Nephrol Dial Transpl, 2009; 25 (2): 617-624. : http://10.1093/ndt/gfp506
- Hodapp M, Klisch C, Berger W, Mall V, Faist M: Modulation of soleus H-reflexes during gait in healthy children Exp Brain Res, 2006 (online).
- Hodapp M, Klisch C, Berger W, Mall V, Faist M: Modulation of soleus H-reflexes during gait in healthy children Exp Brain Res, 2007; 178: 252-260.
- Hodapp M, Vry J, Mall V, Faist M: Changes in soleus H-reflex modulation after treadmill training in children with cerebral palsy. Brain, 2009; 132: 37-44.
- Hoefig CS, Jacobi SF, Warner A, Harder L, Schanze N, Vennstrom B, Mittag J: 3-Iodothyroacetic acid lacks thermoregulatory and cardiovascular effects in vivo. Brit J Pharmacol, 2015; 172 (13): 3426-3433. : http://dx.doi.org/10.1111/bph.13131
- Hoehn T, Busch A, Krause MF: Comparison of noise levels caused by four different neonatal high-frequency ventilators. Intens Care Med, 2000; 26 (1): 84-87.
- Hoehn T, Krause M: Synergistic effects of high-frequency ventilation and inhaled nitric oxide in the treatment of hypoxemic respiratory failure. Pediatr Pulmonol, 1998; 26: 228-230.
- Hoehn T, Krause M: Synergismus von inhalativem Stickstoffmonoxid udn Hochfrequenzbeatmung bei der Therapie des Mekoniumaspirationssyndroms. Monatsschr Kinderheilkd, 1998; 146: 1050-1053.
- Hoehn T, Krause M, Krügger M, Hentschel R: Treatment of respiratory failure with inhaled nitric oxide and high-frequency ventilation in an infant with respiratory syncytial virus pneumonia and bronchopulmonary dysplasia. Respiration, 1998; 65: 477-480.
- Hoehn T, Krause MF: Effective elimination of carbon dioxide by nasopharyngeal high-frequency ventilation. Resp Med, 2000; 94: 1132-1134.
- Hoehn T, Krause MF: Response to inhaled nitric oxide in premature and term neonates. Drugs, 2001; 61: 27-39.
- Hoehn T, Stiller B, McPhaden AR, Wadsworth RM: Nitric oxide synthases in infants and children with pulmonary hypertension and congenital heart disease. Resp Res, 2009; 10 (online): 110. : http://dx.doi.org/10.1186/1465-9921-10-110
- Hoehn T., Krause M.: Synergismus von inhalativem Stickstoffmonoxid und Hochfrequenzbeatmung bei der Therapie des Mekoniumaspirationssyndroms (Leserbriefe und Antwort). Monatsschrift Kinderheilkunde, 1999; 147: 770-772.
- Hoehn T., Krause MF., Wilhelm C., Lattermann U. Rueckauer KD.: Fatal rupture of a sacrococcygeal teratoma during delivery. J. Perinat., 1999; 19: 596-598.
- Hoerauf A, Kruse S, Mueller-Myhsok B, Heinzmann A, Brattig N, Deichmann KA: The variant R110Q of human IL-13 is associated with immunological hyperreactivity in the chronic helminth infection onchocerciasis Microbes Infect, 2002; 4 (1): 37-42.
- Hoerning A, Raub S, Dechene A, Brosch MN, Kathemann S, Hoyer PF, Gerner P: Diversity of disorders causing neonatal cholestasis - the experience of a tertiary pediatric center in Germany. Front Pediatr, 2014; 2: 65-65. : http://dx.doi.org/10.3389/fped.2014.00065
- Hofer M, Weber A, Häffner K, Berlis A, Klingel K, Kruger M, Kandolf R, Volk B: Acute hemorrhagic leukoencephalitis (Hurst's disease) linked to Epstein-Barr virus infection. Acta Neuropathol, 2005; 109 (2): 226-230.
- Hofer M, Weber A, Häffner K, Berlis K, Klingel K, Krueger M, Kandolf R, Volk B: Acute hemmorrhagic leukoencephalitis (Hurst´s disease)linked to Epstein-Barr virus infection. Acta Neuropathol, 2004; 0: 401.
- Hoffmann FG, Storz JF, Gorr TA, Opazo JC: Lineage-specific patterns of functional diversification in the alpha- and beta-globin gene families of tretapod vertebrates. Mol Biol Evol, 2010; 27 (5): 1126-1138.
- Hoffmann GF, Athanassopoulos S, Burlina AB, Duran M, de Klerk JBC, Lehnert W, et al: Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatr, 1996; 27: 115-123.
- Hoffmann K,, Hermanns-Clausen M, Buhl C, Büchler MW, Schemmer P, Mebs D, Kauferstein S.: A case of palytoxin poisoning due to contact with zoanthid corals through a skin injury. Toxicon, 2008; 51 (8): 1535-1537.
- Hoffmann L, Haussmann U, Mueller M, Spiekerkoetter U: VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. J Inherit Metab Dis, 2012; 35 (2): 269-277. : http://dx.doi.org/10.1007/s10545-011-9391-8
- Hoffmann L, Seibt A, Herebian D, Spiekerkoetter U: Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes. Lipids, 2014; 49 (1): 25-37. : http://dx.doi.org/10.1007/s11745-013-3865-4
- Hoffmann M, Zeisel MB, Jilg N, Paranhos-Baccala G, Stoll-Keller F, Wakita T, Hafkemeyer P, Blum HE, Barth H, Henneke P, Baumert TF: Toll-like receptor 2 senses hepatitis C virus core protein but not infectious viral particles. J Innate Immun, 2009; 1 (5): 446-454. : http://dx.doi.org/10.1159/000226136
- Hoffmann-Riem M, Diener W, Benninger C, Rating D, Unnebrink K, Stephani U, Ernst HP, Korinthenberg R: Nonconvulsive Status Epilepticus - A Possible Cause of Mental Retardation in Patients with Lennox-Gastaut Syndrome Neuropediatrics, 2000; 31: 169-174.
- Hoff S, Halbritter J, Epting D, Frank V, Nguyen TM, van Reeuwijk J, Boehlke C, Schell C, Yasunaga T, Helmstadter M, Mergen M, Filhol E, Boldt K, Horn N, Ueffing M, Otto EA, Eisenberger T, Elting MW, van Wijk JA, Bockenhauer D, Sebire NJ, Rittig S, Vyberg M, Ring T, Pohl M, Pape L, Neuhaus TJ, Elshakhs NA, Koon SJ, Harris PC, Grahammer F, Huber TB, Kuehn EW, Kramer-Zucker A, Bolz HJ, Roepman R, Saunier S, Walz G, Hildebrandt F, Bergmann C, Lienkamp SS: ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nat Genet, 2013; 45 (8): 951-956. : http://dx.doi.org/10.1038/ng.2681
- Hofmann J, Doppler W, Jakob A, Maly K, Posch L, Uberall F, Grunicke HH: Enhancement of the antiproliferative effect of cis-diamminedichloroplatinum(II) and nitrogen mustard by inhibitors of protein kinase C. Int J Cancer, 1988; 42 (3): 382-388.
- Hofmans M, Lammens T, Helsmoortel HH, Bresolin S, Cave H, Flotho C, Hasle H, van den Heuvel-Eibrink MM, Niemeyer C, Stary J, Van Roy N, Van Vlierberghe P, Philippe J, De Moerloose B: The long non-coding RNA landscape in juvenile myelomonocytic leukemia. Haematologica, 2018; 103 (11): e501-e504. : http://dx.doi.org/10.3324/haematol.2018.189977
- Hofmans M, Schroder R, Lammens T, Flotho C, Niemeyer C, Van Roy N, Decaluwe W, Philippe J, De Moerloose B: Noonan syndrome-associated myeloproliferative disorder with somatically acquired monosomy 7: impact on clinical decision making. Brit J Haematol, 2019; 187 (4): E83-E86. : http://dx.doi.org/10.1111/bjh.16191
- Hohenhaus M, Shah MJ, Eckenweiler M, van Velthoven V: Decompressive hemicraniectomy in the management of acute stroke in children with Moyamoya disease: the difficult balance between the spontaneous postoperative revascularization process and the need for cranial reconstruction. Child Nerv Syst, 2015; 31 (12): 2369-2373. : http://10.1007/s00381-015-2802-7
- Höhn T, Hübner J, Paboura M, Krause M, Leititis JU: Effect of therapeutic concentrations of nitric oxide on bacterial growth in vitro. Crit. Care Med., 1998; 26: 1857-1862.
- Höhn T, Krause M: Variation of inhaled nitric oxide concenration with the use of a phasic flow ventilator. Intensive Care Med, 1998; 24: 534-536.
- Höhn T, Krause M, Wildberg A, Pringsheim W, Leititis JU: Umkehr eines Rechts-Links-Shunts und dauerhafte Verbesserung der Oxygenierung durch Inhalation von Stickstoffmonoxyd (NO) bei einem Frühgeborenen mit Lungenhypoplasie und Asphyxie. Z Geburtshilfe und Neonatologie, 1997; 201: 105-107.
- Höhn T, Schiffer B: Die Behandlung der persistierenden pulmonalen Hypertonie des Neugeborenen mit inhalativem Stickstoffmonoxid (iNO). Kinderkrankenschwester, 1997; 10: 422-424.
- Höller Y, Kutil R, Klaffenböck L, Thomaschewski A, Höller PM, Bathke AC, Jacobs J, Taylor AC, Nardone R, Trinka E: High-frequency oscillations in epilepsy and surgical outcome. A meta-analysis. Front Hum Neurosci, 2015; 20 (9) (online). : http://dx.doi.org/10.3389%2Ffnhum.2015.00574
- Holl RW, Grabert M, Schwab KO, Schweiggert F für die Initiative DPV-Wiss der pädiatrischen Diabetologie: Schwere Hypoglykämien bei 11180 Kindern und Jugendlichen mit Typ 1-Diabetes mellitus aus 94 Behandlungseinrichtungen. Klin Padiatr, 2001; 213: 57.
- Holl RW, Pavlovic, M, Heinze E, Thon E: Circadian blood pressure during the early course of type I diabetes. Diabetes Care, 1999; 22: 1151-1157.
- Holzapfel HP, Wonerow P, v Petrykowski W, Henschen M, Scherbaum WA, Pasche R: Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. J Clin Endocrinol Metab, 1997; 82: 3879-3884.
- Holzhauer S,, Zieger B.: Diagnosis and management of neonatal thrombocytopenia. Semin Fetal Neonat M, 2011; 16 (6): 305-310.
- Honda Y, Tsuchida M, Zaike Y, Masunaga A, Yoshimi A, Kojima S, Ito M, Kikuchi A, Nakahata T, Manabe A: Clinical characteristics of 15 children with juvenile myelomonocytic leukaemia who developed blast crisis: MDS Committee of Japanese Society of Paediatric Haematology/Oncology. Brit J Haematol, 2014; 165 (5): 682-687.
- Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K, Worth A, Klein N, Eleftheriou D, Brogan P: Secondary C1q Deficiency in Activated PI3Kdelta Syndrome Type 2. Front Immunol, 2019; 10: 2589-2589. : http://dx.doi.org/10.3389/fimmu.2019.02589
- Hoo AF, Dezateux C, Henschen M, Costeloe K, Stocks J: Development of airway function in infancy after preterm delivery. J Pediatr, 2002; 141 (5): 652-658.
- Hoo AF, Henschen M, Dezateux C, Costeloe K, Stocks J: Respiratory function among preterm infants whose mothers smoked during pregnancy Am. J. Resp. Crit. Care, 1998; 158: 700-705.
- Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Mullner-Eidenbock A, Rimoin D, Siderius L, Superti-Furga A, Temple K, Willems P, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR: The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet, 2005 (Epub). (in Druck)
- Hoornaert KP, Dewinter C, Vereecke I, Beemer FA, Courtens W, Fryer A, Fryssira H, Lees M, Mullner-Eidenbock A, Rimoin DL, Siderius L, Superti-Furga A, Temple K, Willems PJ, Zankl A, Zweier C, De Paepe A, Coucke P, Mortier GR: The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene. J Med Genet, 2006; 43 (5): 406-413.
- Hopf A., Schreiber R., Mall M., Greger R., Kunzelmann K.: Cystic fibrosis transmembrane conductance regulator inhibits ephithelial Na+ channels carrying Liddle´s syndrome mutations. J. Biol. Chem., 1999; 274: 13894-13899.
- Hoppe B, Latta K, von Schnakenburg C, Kemper MJ: Primary hyperoxaluria--the German experience. Am J Nephrol, 2005; 25 (3): 276-281.
- Hoppmann AS, Schlosser P, Backofen R, Lausch E, Köttgen A: GenToS: Use of Orthologous Gene Information to Prioritize Signals from Human GWAS. Plos One, 2016; 11 (9) (online): e0162466. : http://dx.doi.org/10.1371/journal.pone.0162466
- Hornef N, Olbrich H, Horvath J, Zariwala M.A., Fliegauf M, Loges N.T., Wildhaber J, Noone P.G., Kennedy M, Antonarakis S.E., Blouin J.L., Bartoloni L, Nublein T, Ahrens P, Griese M, Kuhl H, Sudbrak R, Knowles M.R., Reinhardt R, Omran H: DNAH5 Mutations are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects Am J Resp Crit Care, 2006; 174: 120-126.
- Horn J, Schlesier M, Warnatz K, Prasse A, Superti-Furga A, Peter HH, Salzer U: A fatal adult-onset antibody deficiency syndrome in a patient with cartilage hair hypoplasia. Hum Immunol, 2010; 71 (9): 916-919. : http://dx.doi.org/10.1016/j.humimm.2010.06.002
- Hornstra JM, Hoekstra T, Serne EH, Eringa EC, Wijnstok NJ, Blom HJ, Twisk JW, Smulders YM: Homocysteine levels are inversely associated with capillary density in men, not in premenopausal women. Eur J Clin Invest, 2014; 44 (3): 333-340. : http://dx.doi.org/10.1111/eci.12240
- Horvath J, Ketelsen UP, Geibel-Zehender A, Boehm N, Olbrich H, Korinthenberg R, Omran H.: Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. Neuropediatrics, 2003; 34 (5): 270-273.
- Horváth J, Ketelsen U, Geibel-Zehender A, Boehm N, Olbrich H, Korinthenberg R, Omran H: Identification of a Novel LAMP2 Mutation Responsible for X-Chromosomal Dominant Danon Disease Neuropediatrics, 2003; 34: 270-273.
- Horváth J., Olbrich H., Fliegauf M., Kispert A., King S.M., Mitchison H., Zariwala M.A, Knowles M.R., Sudbrack R., Reinhardt R., Omran H.: Identification of the human axonemal dynein light chain 1 (DNAL1) gene and candidate gene analysis in patients with primary ciliary dyskinesia Am J Resp Cell Mol, 2005; 33: 41-47.
- Horvath R, Czermin B, Gulati S, Demuth S, Houge G, Pyle A, Dineiger C, Blakely EL, Hassani A, Foley C, Brodhun M, Storm K, Kirschner J, Gorman GS, Lochmuller H, Holinski-Feder E, Taylor RW, Chinnery PF: Adult-onset cerebellar ataxia due to mutations in CABC1/ADCK3. J Neurol Neurosur Ps, 2012; 83 (2): 174-178. : http://dx.doi.org/10.1136/jnnp-2011-301258
- Hoskins BE, Cramer CH 2nd, Tasic V, Kehinde EO, Ashraf S, Bogdanovic R, Hoefele J, Pohl M, Hildebrandt F: Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transpl, 2008; 23 (2): 777-779. : http://dx.doi.org/10.1093/ndt/gfm685
- Hottenrott T, Dersch R, Berger B, Rauer S, Eckenweiler M, Huzly D, Stich O: The intrathecal, polyspecific antiviral immune response in neurosarcoidosis, acute disseminated encephalomyelitis and autoimmune encephalitis compared to multiple sclerosis in a tertiary hospital cohort. Fluids Barriers CNS, 2015; 12 (1): 27-27. : http://dx.doi.org/10.1186/s12987-015-0024-8
- Houben R,, Adam C, Baeurle A, Hesbacher S, Grimm J, Angermeyer S, Henzel K, Hauser S, Elling R, Bröcker EB, Gaubatz S, Becker JC, Schrama D.: An intact retinoblastoma protein-binding site in Merkel cell polyomavirus large T antigen is required for promoting growth of Merkel cell carcinoma cells. Int J Cancer, 2012; 130 (4): 847-856. : http://doi: 10.1002/ijc.26076
- Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Haberle J, Baumgartner MR, Coskun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M: Genetic basis of hyperlysinemia. Orphanet J Rare Dis, 2013; 8: 57-57. : http://dx.doi.org/10.1186/1750-1172-8-57
- Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V: Identification of mutations in CUL7 in 3-M syndrome Nat Genet, 2005; 37 (10): 1119-1124.
- Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V: Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet, 2009; 85 (5): 706-710. : http://dx.doi.org/10.1016/j.ajhg.2009.10.001
- Hubner CA, Orth U, Senning A, Steglich C, Kohlschutter A, Korinthenberg R, Gal A: Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher disease Hum Mutat, 2005; 25: 321-322.
- Hübner J, Berner R, Kropec A, Schumacher RF, Stockburger T, Forster J, Brandis M: Epidemiology and Significance of Moraxella catarrhalis in Childhood. Microbiological Letters, 1994.
- Hübner J, Berner R, Schumacher RF, Kropec A, Brandis M, Forster J: Epidemiology and clinical significance of Moraxella catarrhalis in upper respiratory tract infections in children. Med Microbiol Let, 1996; 5: 195-203.
- Hübner J, Wang Y, Krüger WA, Madoff LC, Martirosian G, Boisot S, Goldmann DA, Kasper DL, Tzianabos AO, Pier GB: Isolation and chemical characterization of a capsular polysaccharide antigen shared by clinical isolates of enterococcus faecalils and vancomycin-resistant enterococcus faecium Infect Immun, 1999; 67 (3): 1213-1219.
- Huck B, Neumann-Haefelin D, Schmitt-Graeff A, Weckmann M, Mattes J, Ehl S, Falcone V: Human metapneumovirus induces more severe disease and stronger innate immune response in BALB/c mice as compared with respiratory syncytial virus. Resp Res, 2007; 8 (online).
- Huck B, Neumann-Haefelin D, Schmitt-Graeff A, Weckmann M, Mattes J, Ehl S, Falcone V: Human metapneumovirus induces more severe disease and stronger innate immune response in BALB/c mice as compared with respiratory syncytial virus. Resp Res, 2007; 8: 6-6. : http://dx.doi.org/10.1186/1465-9921-8-6
- Huebner J,, Franz C,, Kopp M.: Probiotics--evidence-based medicine or simply hocus-pocus? Deut Med Wochenschr, 2008; 133: 367-369.
- Huebner J., Goldmann DA.: Coagulase-negative staphylococci: role as pathogens. Ann. Rev. Med., 1999; 50: 223-236.
- Huemer M, Kozich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ: Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis, 2015; 38 (6): 1007-1019. : http://dx.doi.org/10.1007/s10545-015-9830-z
- Huemer M, Simma B, Fowler B, Suormala T, Bodamer OA, Sass JO: Prenatal and postnatal treatment in cobalamin C defect. J Pediatr, 2005; 147 (4): 469-472.
- Hufnagel M: Zweitimpfung gegen Masern, Mumps, Röteln ab dem 15. Lebensmonat Pädiatrische Praxis, 2016; 86: 183-185.
- Hufnagel M, Burger A, Bartelt S, Henneke P, Berner R: Secular trends in pediatric bloodstream infections over a 20-year period at a tertiary care hospital in Germany. Eur J Pediatr, 2008; 167 (10): 1149-1159. : http://dx.doi.org/10.1007/s00431-007-0651-4
- Hufnagel M, Burger A, Bartelt S, Henneke P, Berner R: Secular trends in pediatric bloodstream infections over a 20-year period at a tertiary care hospital in Germany. Eur J Pediatr, 2008; 167 (10): 1149-1159. : http://dx.doi.org/10.1007/s00431-007-0651-4
- Hufnagel M, Carey VJ, Baldassarri L, Reinert RR, Huebner J: Distribution of four capsular serotypes of Enterococcus faecalis among clinical isolates from different geographical origins and infection sites. Infection, 2006; 34 (1): 22-25.
- Hufnagel M, Henneke P, Schmitt-Graeff A: IgG4-related disease. New Engl J Med, 2012; 366 (17): 1643-4; author reply 1646. : http://dx.doi.org/10.1056/NEJMc1202768#SA1
- Hufnagel M, Liese C, Löscher C, Kunze M, Prömpeler H, Berner R, Krüger M: Enterococcal colonization of infants in a neonatal intensive care unit: Associated predictors, risk factors and seasonal patterns Bmc Infect Dis, 2007 (online).
- Hufnagel M, Niemeyer C, Zimmerhackl B, Tüchelmann T, Sauter S, Brandis M: Pancytopenia, a complication of acute Q fever in a child. Clinical Infectious Diseases, 1995; 21: 1029-1031.
- Hufnagel M, Sixel K, Hammer F, Kropec A, Sava IG, Theilacker C, Berner R, Huebner J: Detection of opsonic antibodies against Enterococcus faecalis cell wall carbohydrates in immune globulin preparations: A pilot study. Infection, 2014; 42: 749-755. : http://doi: 10.1007/s15010-014-0628-y
- Hufnagel M, Versporten A, Bielicki J, Drapier N, Sharland M, Goossens H: High Rates of Prescribing Antimicrobials for Prophylaxis in Children and Neonates: Results From the Antibiotic Resistance and Prescribing in European Children Point Prevalence Survey. J Pediat Inf Dis Soc, 2018. : http://dx.doi.org/10.1093/jpids/piy019 (in Druck)
- Hufnagel M, Zimmerhackl LB, Leititis JU, Tüchelmann, T, Brandis M, Brem I, Schindera F: Akutes Nierenversagen ohne Leberbeteiligung bei Leptospira icterohämorrhagiae-infection. Monatsschr Kinderheilkde, 1994; 142: 957-960.
- Hufnagel M,, Kropec A,, Theilacker C,, Huebner J: Naturally acquired antibodies against four Enterococcus faecalis capsular polysaccharides in healthy human sera. Clin Diagn Lab Immun, 2005; 12 (8): 930-934.
- Hufnagel M, Huebner J.: Analysis of the specific immune response against capsular polysaccharides of two patients with systemic enterococcal infections. Infection, 2005; 33 (5-6): 373-376.
- Hummel J, Rucker G, Stiller B: Prophylactic levosimendan for the prevention of low cardiac output syndrome and mortality in paediatric patients undergoing surgery for congenital heart disease. Cochrane Db Syst Rev, 2017; 8: CD011312-CD011312. : http://dx.doi.org/10.1002/14651858.CD011312.pub3
- Hummel J, Stiller B, Grohmann J: Coil-occlusion of the left ventricle as emergency treatment in failing stage I palliation for hypoplastic left heart syndrome with sinusoids. Catheter Cardio Inte, 2013; 81 (1): 119-124. : http://dx.doi.org/10.1002/ccd.24354
- Hummel J, Stiller B, Kroll J, Grohmann J: Primary Coiling of the Left Ventricle in Hypoplastic Left Heart With Ventriculo-Coronary Connections. Ann Thorac Surg, 2017; 103 (6): e559-e559. : http://dx.doi.org/10.1016/j.athoracsur.2017.01.057
- Hummler HD, Parys E, Mayer B, Essers J, Fuchs H, Schmid M: Risk Indicators for Air Leaks in Preterm Infants Exposed to Restrictive Use of Endotracheal Intubation. Neonatology, 2015; 108 (1): 1-7. : http://dx.doi.org/10.1159/000375361
- Hummler HD, Poets C, Vochem M, Hentschel R, Linderkamp O: Mortalität und Morbidität sehr unreifer Frühgeborener in Baden-Württemberg in Abhängigkeit von der Klinikgröße. ist der derzeitige Grad der Regionalisierung ausreichend? Z Geburtsh Neonatol, 2006; 210 (1): 6-11.
- Hung CM, Calejman CM, Sanchez-Gurmaches J, Li H, Clish CB, Hettmer S, Wagers AJ, Guertin DA: Rictor/mTORC2 loss in the Myf5 lineage reprograms brown fat metabolism and protects mice against obesity and metabolic disease. Cell Rep, 2014; 8 (1): 256-271. : http://dx.doi.org/10.1016/j.celrep.2014.06.007
- Hunseler C, Balling G, Rohlig C, Blickheuser R, Trieschmann U, Lieser U, Dohna-Schwake C, Gebauer C, Moller O, Hering F, Hoehn T, Schubert S, Hentschel R, Huth RG, Muller A, Muller C, Wassmer G, Hahn M, Harnischmacher U, Behr J, Roth B: Continuous infusion of clonidine in ventilated newborns and infants: a randomized controlled trial. Pediatr Crit Care Me, 2014; 15 (6): 511-522. : http://dx.doi.org/10.1097/PCC.0000000000000151
- Hunziker L, Klenerman P, Zinkernagel RM, Ehl S: Exhaustion of cytotoxic T cells during adoptive immunotherapy of virus carrier mice can be prevented by B cells or CD4+ T cells. Eur J Immunol, 2002; 32 (2): 374-382.
- Hunziker L, Klenerman P, Zinkernagel RM, Ehl S: Exhaustion of cytotoxic T cells during adoptive immunotherapy of virus carrier mice can be prevented by B cells or CD4+ T cells. Eur J Immunol, 2002; 32 (2): 374-382.
- Huppertz HJ, Franck P, Korinthenberg R, Schulze-Bonhage A: Recurrent Attacks of Fear and Visual Hallucinations in a Child J Child Neurol, 2002; 17 (3): 230-233.
- Husby A, Pasanen A, Waage J, Sevelsted A, Hodemaekers H, Janssen R, Karjalainen MK, Stokholm J, Chawes BL, Korppi M, Wennergren G, Heinzmann A, Bont L, Bisgaard H, Bonnelykke K: CDHR3 gene variation and childhood bronchiolitis. J Allergy Clin Immun, 2017; 140 (5): 1469-1471.e7. : http://dx.doi.org/10.1016/j.jaci.2017.06.044
- Hussein K, Suttorp M, Stucki-Koch A, Baumann I, Niemeyer CM, Kreipe H: Molecular profile of inflammatory and megakaryocytic factors in pediatric myelodysplastic syndrome with acute myelofibrosis. Pediatr Blood Cancer, 2018; 65: e27048. : http://dx.doi.org/10.1002/pbc.27048
- Hütter B-O, Fischer G, Sauer M, Korinthenberg R: Psychologische Aspekte der Behandlung neuromuskulärer Erkrankungen im Kindes- und Jugendalter. Sozialpädiatrie, 1994; 16: 750-755.
- Hwang JY, Lee J, Lee C, Jakob A, Lemor R, Medina-Kauwe LK, Shung KK: Fluorescence response of human HER2+ cancer- and MCF-12F normal cells to 200MHz ultrasound microbeam stimulation: a preliminary study of membrane permeability variation. Ultrasonics, 2012; 52 (7): 803-808. : http://dx.doi.org/10.1016/j.ultras.2012.03.002
- I.Mattyus, L.B.Zimmerhackl, A.Schwarz, M.Brandis, M.Miltényi, T.Tulassay: Renal excretion of endothelin in children is influenced by age and diuresis. Acta Pediatrica, 1994; 83: 462-472.
- I.Mattyus, M.Miltényi, L.B.Zimmerhackl, A. Schwarz, M.Brandis, T.Tulassay: Excretion of endothelin during ketoacidosis does not correlate with tubular dysfunction. Pediatric Nephrology, 1994; 8: 304-308.
- Ibanez-Tallon I, Pagenstecher A, Fliegauf M, Olbrich H, Kispert A, Ketelsen UP, North A, Heintz N, Omran H: Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Hum Mol Genet, 2004; 13 (18): 2133-2141.
- Ibanez-Tallon I, Pagenstecher A, Fliegauf M, Olbrich H, Kispert A, Ketelsen U-P, North A, Heintz N, Omran H: Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation Hum Mol Genet, 2004; 13: 2133-2141.
- Ihorst G, Frischer T, Horak F, Schumacher M, Kopp M, Forster J, Mattes J, Kuehr J: Long- and medium-term ozone effects on lung growth including a broad spectrum of exposure. Eur Respir J, 2004; 23 (2): 292-299.
- Ijlst L, Loupatty FJ, Ruiter PN, Duran M, Lehnert W, Wanders RJA: 3-Methylglutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet, 2002; 71: 1463-1466.
- Imbard A, Benoist JF, Esse R, Gupta S, Lebon S, de Vriese AS, de Baulny HO, Kruger W, Schiff M, Blom HJ: High homocysteine induces betaine depletion. Bioscience Rep, 2015; 35 (4) (online): e00222. : http://dx.doi.org/10.1042/BSR20150094
- Inauen C, Rufenacht V, Pandey AV, Hu L, Blom H, Nuoffer JM, Haberle J: Effect of Cysteamine on Mutant ASL Proteins with Cysteine for Arginine Substitutions. Mol Diagn Ther, 2016; 20 (2): 125-133. : http://dx.doi.org/10.1007/s40291-015-0182-z
- Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmuller H: GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice. Hum Mol Genet, 2018; 27 (18): 3218-3232. : http://dx.doi.org/10.1093/hmg/ddy225
- Iversen PO, Turczynowicz S, Lewis J, Hasle H, Niemeyer C, Schmiegelow K, Bastiras S, Biondi A, Hughes T, Lopez AF: A second generation GM-CSF analogue that prevents dissemination and induces remission of human juvenile myelomonocytic leukemia in engrafted immunodeficient mice Blood, 1997; 90: 4910-4917.
- Izuhara K, Umeshita-Suyama R, Akaiwa M, Shirakawa T, Deichmann KA, Arima K, Hamasaki N, Hopkin JM: Recent advances in understanding how interleukin 13 signals are involved in the pathogenesis of bronchial asthma Archivum Immunologiae et Therapiae Experimentalis, 2001; 48: 505-512.
- Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD: Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Hum Mutat, 2012; 33 (1): 144-157. : http://dx.doi.org/10.1002/humu.21611
- Jacobs J: Measuring cortical activity - we will only detect what we are looking for
Clin Neurophysiol, 2010; 121 (3): 268-269.
- Jacobs J, Golla T, Mader M, Schelter B, Dumpelmann M, Korinthenberg R, Schulze-Bonhage A: Electrical stimulation for cortical mapping reduces the density of high frequency oscillations. Epilepsy Res, 2014; 108 (10): 1758-1769. : http://dx.doi.org/10.1016/j.eplepsyres.2014.09.022
- Jacobs J, Kobayashi K, Gotman J: High-frequency changes during interictal spikes detected by time-frequency analysis.
Clin Neurophysiol, 2011; 122 (1): 32-42.
- Jacobs J, Menzel A, Ramantani G, Korbl K, Asslander J, Schulze-Bonhage A, Hennig J, LeVan P: Negative BOLD in default-mode structures measured with EEG-MREG is larger in temporal than extra-temporal epileptic spikes. Front Neurosci, 2014; 8 (online): 335-335. : http://dx.doi.org/10.3389/fnins.2014.00335
- Jacobs J, Stich J, Zahneisen B, Assländer J, Ramantani G, Schulze-Bonhage A, Korinthenberg R, Hennig J, Le Van P: Fast fMRI provides high statistical power in the analysis of epileptic networks. Neuroimage, 2014; 88: 282-294. : http://dx.doi.org/10.1016/j.neuroimage.2013.10.018
- Jacobs J, Vogt C, LeVan P, Zelmann R, Gotman J, Kobayashi K: The identification of distinct high-frequency oscillations during spikes delineates the seizure onset zone better than high-frequency spectral power changes.
Clin Neurophysiol, 2016; 127 (1): 129-142. : http://dx.doi.org/10.1016/j.clinph.2015.04.053
- Jacobs J, Wu JY, Perucca P, Zelmann R, Mader M, Dubeau F, Mathern GW, Schulze-Bonhage A, Gotman J: Removing high-frequency oscillations: A prospective multicenter study on seizure outcome. Neurology, 2018; 91 (11): e1040-e1052. : http://dx.doi.org/10.1212/WNL.0000000000006158
- Jacobs J, Zijlmans M, Zelmann R, Chatillon CE, Hall J, Olivier A, Dubeau F, Gotman J: High-frequency electroencephalographic oscillations correlate with outcome of epilepsy surgery.
Ann Neurol, 2010; 67 (2): 209-220.
- Jacobs-Le Van J, Banks S, Zelmann R, Zijlmans M, Jones-Gotman M, Gotman J: Spontaneous ripples in the hippocampus correlate with epileptogenicity and not memory function in patients with refractory epilepsy. Epilepsy Behav, 2016; 62: 258-266.
- Jaeger VK, Lebrecht D, Nicholson AG, Wells A, Bhayani H, Gazdhar A, Tamm M, Venhoff N, Geiser T, Walker UA: Mitochondrial DNA mutations and respiratory chain dysfunction in idiopathic and connective tissue disease-related lung fibrosis. Sci Rep-uk, 2019; 9 (1): 5500-5500. : http://dx.doi.org/10.1038/s41598-019-41933-4
- Jäger V, Dümpelmann M, Le Van P, Ramantani G, Mader I, Schulze-Bonhage A, Jacobs J: Concordance of Epileptic Networks Associated with Epileptic Spikes Measured by High-Density EEG and Fast fMRI.
Plos One, 2015; 10 (online): e0140537. : http://dx.doi.org/10.1371/journal.pone.0140537
- Jakob A: [On conservative treatment of gastric hemorrhage]. Dtsch Gesundheitsw, 1967; 22 (19): 880-884.
- Jakob A: [Vertebral fractures in skiing]. Schweiz Z Sportmed, 1967; 15 (1): 1-19.
- Jakob A: Interactions of glucagon and fructose in the control of glycogenolysis in perfused rat liver. Mol Cell Endocrinol, 1976; 6 (1): 47-58.
- Jakob A: Effects of fructose and xylitol on hepatic carbohydrate metabolism and its hormonal control. Int Z Vitam Ernahrungsforsch Beih, 1976; 15: 66-67.
- Jakob A: [Scientific understanding and medical performance]. Ther Ggw, 1979; 118 (3): 303-314.
- Jakob A: [Is disease always caused by deregulation of biochemical processes? Considerations on a scientific theory]. Schweiz Rundsch Med Prax, 1983; 72 (49): 1555-1560.
- Jakob A: Concerning a disorder of the central nervous system clinically resembling multiple sclerosis with remarkable anatomic findings (spastic pseudosclerosis). Report of a fourth case. Alz Dis Assoc Dis, 1989; 3 (1-2): 26-45.
- Jakob A, Alexandrakis E, Rompel R: Purpura fulminans secondary to respiratory infection. J Dtsch Dermatol Ges, 2009; 7 (2): 135-138. : http://dx.doi.org/10.1111/j.1610-0387.2008.06871.x
- Jakob A, Althaus-Salzmann M, Diem S: Non-hormonal activation of glycogenolysis in perfused rat livers. Eur J Biochem, 1980; 106 (1): 233-240.
- Jakob A, Bauer A: [Congenital ectopia]. Zentralbl Gynakol, 1971; 93 (24): 824-826.
- Jakob A, Becker J, Isler N, Diem S: Effects of ethacrynic acid on the alpha-adrenergic control ov hepatic glycogenolysis. J Cardiovasc Pharm, 1982; 4 Suppl 1: S68-S71.
- Jakob A, Becker J, Schottli G, Fritzsch G: Alpha 1-adrenergic stimulation causes Mg2+ release from perfused rat liver. Febs Lett, 1989; 246 (1-2): 127-130.
- Jakob A, Bender C, Henschen M, Saueressig U, Uhl M, Kruger M, Franck P, Hentschel R: Selective unilateral lung ventilation in preterm infants with acquired bullous emphysema: A series of nine cases. Pediatr Pulm, 2013; 48 (1): 14-19. : http://dx.doi.org/10.1002/ppul.22530
- Jakob A, Bender C, Henschen M, Saueressig U, Uhl M, Kruger M, Franck P, Hentschel R: Selective unilateral lung ventilation in preterm infants with acquired bullous emphysema: a series of nine cases. Pediatr Pulm, 2013; 48 (1): 14-19. : http://dx.doi.org/10.1002/ppul.22530
- Jakob A, Bokemeyer C, Knop S, Schupp M, Mayer F, Kanz L: Capecitabine in patients with breast cancer relapsing after high-dose chemotherapy plus autologous peripheral stem cell transplantation--a phase II study. Anti-cancer Drug, 2002; 13 (4): 405-410.
- Jakob A, Bornitz M, Kuhlisch E, Zahnert T: New aspects in the clinical diagnosis of otosclerosis using laser Doppler vibrometry. Otol Neurotol, 2009; 30 (8): 1049-1057. : http://dx.doi.org/10.1097/MAO.0b013e31819e622b
- Jakob A, Bornitz M, Kuhlisch E, Zahnert T: New aspects in the clinical diagnosis of otosclerosis using laser Doppler vibrometry. Otol Neurotol, 2009; 30 (8): 1049-1057. : http://dx.doi.org/10.1097/MAO.0b013e31819e622b
- Jakob A, Burgi H, Froesch ER, Labhart A: [Serum insulin activity not inhibitable by insulin antibodies]. Deut Med Wochenschr, 1966; 91 (29): 1314-1319. : http://dx.doi.org/10.1055/s-0028-1111511
- Jakob A, Burgi H, Froesch ER, Labhart A: Nonsuppressible insulin-like activity of human serum. Ger Med Mon, 1967; 12 (6): 286-292.
- Jakob A, Busse A, Riedel-Heller SG, Pavlicek M, Angermeyer MC: [Prevalence and incidence of dementia among nursing home residents and residents in homes for the aged in comparison to private homes]. Z Gerontol Geriatr, 2002; 35 (5): 474-481. : http://dx.doi.org/10.1007/s00391-002-0066-9
- Jakob A, Diem S: Activation of glycogenolysis in perfused rat livers by glucagon and metabolic inhibitors. Biochim Biophys Acta, 1974; 362 (3): 469-479.
- Jakob A, Diem S: Metabolic responses of perfused rat livers to alpha- and beta-adrenergic agonists, glucagon and cyclic AMP. Biochim Biophys Acta, 1975; 404 (1): 57-66.
- Jakob A, Diem S: The control of hepatic phosphorylase phosphatase by ATP, ADP and Mg2+. Biochim Biophys Acta, 1979; 567 (1): 174-183.
- Jakob A, Doll J, Schulte-Monting J, Hirsch FW: Retrospective analysis of CD38 expression in 102 patients with B-CLL with a maximum follow-up of 18 years: incidence and prognostic significance. Onkologie, 2006; 29 (10): 437-441. : http://dx.doi.org/10.1159/000095217
- Jakob A, Hauri C, Froesch ER: Nonsuppressible insulin-like activity in human serum. 3. Differentiation of two distinct molecules with nonsuppressible ILA. J Clin Invest, 1968; 47 (12): 2678-2688. : http://dx.doi.org/10.1172/JCI105951
- Jakob A, Hirsch FW, Engelhardt M: Successful treatment of a patient with myelodysplastic syndrome (RAEB) with Darbepoetin-alfa in combination with Pegfilgrastim. Ann Hematol, 2005; 84 (10): 694-695. : http://dx.doi.org/10.1007/s00277-005-1060-2
- Jakob A, Kanz L: [Diagnostic criteria in polycythemia vera]. Deut Med Wochenschr, 1998; 123 (1-2): 30-31.
- Jakob A, Kollmannsberger C, Kanz L, Bokemeyer C: [Late toxicity after chemotherapy of malignant testicular tumors]. Urologe A, 1998; 37 (6): 635-647.
- Jakob A, Largiader F, Froesch ER: Glucose turnover and insulin secretion in dogs with pancreatic allografts. Diabetologia, 1970; 6 (4): 441-444.
- Jakob A, Mazurek M, Heer W: Solute transport in crystalline rocks at Aspo-II: blind predictions, inverse modelling and lessons learnt from test STT1. J Contam Hydrol, 2003; 61 (1-4): 175-190. : http://dx.doi.org/10.1016/S0169-7722(02)00136-5
- Jakob A, Meyerhofer H: [On the radiographic diagnosis of chronic icterus by means of percutaneous transhepatic cholangiography. (Indications, technic, results, dangers)]. Fortschr Geb Rontgenstr Nuklearmed, 1966; 104 (4): 511-517.
- Jakob A, Meyer UA, Flury R, Ziegler WH, Labhart A, Froesch ER: The pathogenesis of tumour hypoglycaemia: blocks of hepatic glucose release and of adipose tissue lipolysis. Diabetologia, 1967; 3 (6): 506-514.
- Jakob A, Monch E: [Increased epidemic incidence of hepatitis B in a district hospital]. Z Gesamte Inn Med, 1978; 33 (2): 48-51.
- Jakob A, Porstmann R, Rompel R: [Skin ulceration after leflunomide treatment in two patients with rheumatoid arthritis]. J Dtsch Dermatol Ges, 2006; 4 (4): 324-327. : http://dx.doi.org/10.1111/j.1610-0387.2006.05934.x
- Jakob A, Rompel R: [Disseminated affection of the skin with progressive papulopustules]. J Dtsch Dermatol Ges, 2008; 6 (3): 235-237. : http://dx.doi.org/10.1111/j.1610-0387.2007.06504.x
- Jakob A, Steinheisser C: [Clinical contribution to myocardial infarct from the point of view of a regional hospital]. Dtsch Gesundheitsw, 1971; 26 (25): 1156-1160.
- Jakob A, Stucki S, Kuhn P: Evaporation of Heavy Metals during the Heat Treatment of Municipal Solid Waste Incinerator Fly Ash. Environ Sci Technol, 1995; 29 (9): 2429-2436. : http://dx.doi.org/10.1021/es00009a040
- Jakob A, Unger S, Arnold R, Grohmann J, Kraus C, Schlensak C, Stiller B: A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young, 2010; 1: 1-4. : http://dx.doi.org/10.1017/S1047951110001563
- Jakob A, Unger S, Arnold R, Grohmann J, Kraus C, Schlensak C, Stiller B: A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young, 2011; 21 (1): 62-65. : http://dx.doi.org/10.1017/S1047951110001563
- Jakob A, Unger S, Arnold R, Grohmann J, Kraus C, Schlensak C, Stiller B: A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death. Cardiol Young, 2011; 21 (1): 62-65. : http://dx.doi.org/10.1017/S1047951110001563
- Jakob A, Valtchev V, Soulard M, Fayes D: Syntheses of zeolite beta films in fluoride media and investigation of their sorption properties. Langmuir, 2009; 25 (6): 3549-3555. : http://dx.doi.org/10.1021/la8033963
- Jakob A, von Kries R, Horstmann J, Hufnagel M, Stiller B, Berner R, Schachinger E, Meyer K, Obermeier V: Failure to Predict High-risk Kawasaki Disease Patients in a Population-based Study Cohort in Germany. Pediatr Infect Dis J, 2018; 37 (9): 850-855. : http://dx.doi.org/10.1097/INF.0000000000001923
- Jakob A, von Kries R, Horstmann J, Hufnagel M, Stiller B, Berner R, Schachinger E, Meyer K, Obermeier V: Failure to Predict High-risk Kawasaki Disease Patients in a Population-based Study Cohort in Germany. Pediatr Infect Dis J, 2018; 37 (9): 850-855. : http://dx.doi.org/10.1097/INF.0000000000001923
- Jakob A, Whelan J, Kordecki M, Berner R, Stiller B, Arnold R, von Kries R, Neumann E, Roubinis N, Robert M, Grohmann J, Hohn R, Hufnagel M: Kawasaki Disease in Germany: A Prospective, Population-Based Study Adjusted for Underreporting. Pediatr Infect Dis J, 2016; 35 (2): 129-134. : http://dx.doi.org/10.1097/INF.0000000000000953
- Jakob A, Whelan J, Kordecki M, Berner R, Stiller B, Arnold R, von Kries R, Neumann E, Roubinis N, Robert M, Grohmann J, Hohn R, Hufnagel M: Kawasaki Disease in Germany: A Prospective, Population-based Study Adjusted for Underreporting. Pediatr Infect Dis J, 2016; 35 (2): 129-134. : http://dx.doi.org/10.1097/INF.0000000000000953
- Jakob A, Williamson JR, Asakura T: Xylitol metabolism in perfused rat liver. Interactions with gluconeogenesis and ketogenesis. J Biol Chem, 1971; 246 (24): 7623-7631.
- Jakob A, Zapf J: [The mode of action of insulin (author's transl)]. Ther Umsch, 1976; 33 (9): 586-591.
- JAKOB A: [Not Available]. Med Klin, 1947; 42 (1): 22-25.
- JAKOB A: [Sterility and myoma]. Obstet Ginecol Lat Am, 1950; 8 (3-4): 117-118.
- JAKOB A: [Differential diagnosis of enosteal calcification, with special reference to bone infarct]. Fortschr Geb Rontgenstr, 1951; 74 (1): 77-83.
- JAKOB A: [Plasmocytoma]. Z Arztl Fortbild (Jena), 1954; 48 (8): 264-267.
- JAKOB A: [Unusual cyst-like calcification of soft tissue of the leg]. Fortschr Geb Rontgenstr, 1955; 82 (3): 418-419.
- JAKOB A: [Meningeal tuberculosis and pregnancy]. Z Arztl Fortbild (Jena), 1955; 49 (5): 162-164.
- JAKOB A: [Bone changes in trophic disorders of the leg]. Fortschr Geb Rontgenstr, 1955; 82 (1): 28-34.
- JAKOB A: [CANCER OF THE CERVIX AND PREGNANCY]. Sem Med, 1963; 122: 1417-1421.
- JAKOB A: [Radiotantalum 182 therapy of vulvar carcinoma. Physical data, dosimetry, application technic, results]. Fortschr Geb Rontgenstr Nuklearmed, 1963; 98: 439-445.
- JAKOB A: [ON THE CLINICAL ASPECTS AND THERAPY OF RHEUMATIC ENDOCARDITIS]. Dtsch Gesundheitsw, 1965; 20: 512-517.
- JAKOB A, BALZ G: [Report on treatment of angiomas & keloids with radiostrontium & radioyttrium]. J Radiol Electrol Arch Electr Medicale, 1959; 40 (6-7): 377-378.
- JAKOB A, BENEVENIA M, SAVRANSKY E: [ELECTROCOAGULATION WITHOUT PREVIOUS DIAGNOSIS]. An Bras Ginecol, 1965; 59: 235-240.
- JAKOB A, BENEVENIA M, SOLER M: [THE SQUAMOCOLUMNAR JUNCTION AND THE LOCALIZATION OF THE EARLY CARCINOMA OF THE UTERINE CERVIX]. An Bras Ginecol, 1965; 59: 249-268.
- JAKOB A, BENEVENIA M, SOLER M: [MODIFICATIONS OF THE UTERINE CERVIX IN PREGNANT WOMEN AND ITS COLPOSCOPIC IMAGE]. An Bras Ginecol, 1965; 59: 245-248.
- JAKOB A, BENEVENIA MH, SOLER ME: [Statistical study of surgery of the fallopian tubes]. Obstet Ginecol Lat Am, 1955; 13 (9): 388-389.
- JAKOB A, DIETRICH G: [Our results with radio strontium and radio yttrium irradiation of hemangioma and nevus flammeus]. Strahlentherapie, 1958; 107 (4): 532-536.
- JAKOB A, DIETRICH G: [Interstitial radiotantalum 182 therapy of vulva carcinoma. Technic, dosimetry, preliminary results]. Strahlentherapie, 1960; 112: 421-427.
- JAKOB A, ESLALANTE DA, KRAUSS J: [Diagnosis and histogenesis of endocervical cancer]. An Bras Ginecol, 1955; 40 (3): 187-200.
- JAKOB A, HILLER J: [Methods and indications of therapy with artificial radioisotopes]. Strahlentherapie, 1955; 98 (2): 284-290.
- JAKOB A, HILLER J, STRAUSS E: [In vitro mode of action of bacteriostatic substances with radioactive phosphorus]. Strahlentherapie, 1952; 87 (1): 159-160.
- JAKOB A, HILLER J, STRAUSS E: [Analysis of radiobiological and cytostatic effects of radiophosphorus on bacterial growth]. Strahlentherapie, 1953; 89 (4): 600-605.
- JAKOB A, JASSIN A: [The practical value of the colposcopic examination. The diagnostic importance of congenital ectropion]. Sem Med, 1961; 119: 1978-1980.
- JAKOB A, KRISCH E: [On histoplasmosis and with special reference to histoplasmosis of lungs]. Fortschr Geb Rontgenstr, 1953; 78 (3): 287-290.
- JAKOB A, MAHL H: [Not Available]. Z Naturforsch B, 1948; 3b (1-2): 26-29.
- JAKOB A, SOLER M, BENEVENIA M, PEDACE E: [CONGENITAL ECTROPION]. An Bras Ginecol, 1965; 59: 203-206.
- JAKOB A, WACHSMANN F: [Not Available]. Strahlentherapie, 1947; 77 (1): 91-106.
- JAKOB A, WACHSMANN F: [Not Available]. Klin Wochenschr, 1948; 26 (1-2): 20-20.
- JAKOB A, WACHSMANN F: [Effectiveness of Bolus pads in breast irradiation]. Strahlentherapie, 1951; 85 (2): 316-320.
- Jakob AF: [Energy metablism and the hormonal regulation of the hepatic glycogen metabolism]. Fortschr Med, 1977; 95 (31): 1923-1926.
- Jakob AH: [Female pseudohermaphroditism in congenital adrenogenital syndrome as an incidental intraoperative finding in a 68-year-old patient]. Deut Med Wochenschr, 2000; 125 (36): 1061-1061.
- Jakob AR, Hiller E: [Multi-organ involvement in recurrent Moschcowitz disease. Splenectomy as ultima ratio in a therapeutic dilemma?]. Med Klin, 1998; 93 (10): 624-626.
- Jakob AR, Kuhl M, Wilmanns W, Schalhorn A: [Young man with swelling of the left side of the neck and right testis]. Internist, 1995; 36 (11): 1080-1084.
- Jakubowski J, Jakob A: Vasopressin, insulin and peroxide(s) of vanadate (pervanadate) influence Na+ transport mediated by (Na+, K+)ATPase or Na+/H+ exchanger of rat liver plasma membrane vesicles. Eur J Biochem, 1990; 193 (2): 541-549.
- Janda A, Rensing-Ehl A, Eibel H, Ehl S, Speckmann C: Elevated serum BAFF levels in patients with autoimmunity and lymphoproliferation. Scand J Immunol, 2011; 74 (5): 518-519. : http://dx.doi.org/10.1111/j.1365-3083.2011.02597.x
- Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M: Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. Blood, 2016; 127 (18): 2193-2202. : http://dx.doi.org/10.1182/blood-2015-04-642488
- Janda A, Schwarz K, van der Burg M, Vach W, Ijspeert H, Lorenz MR, Elgizouli M, Pieper K, Fisch P, Hagel J, Lorenzetti R, Seidl M, Roesler J, Hauck F, Traggiai E, Speckmann C, Rensing-Ehl A, Ehl S, Eibel H, Rizzi M: Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. Blood, 2016; 127 (18): 2193-2202. : http://dx.doi.org/10.1182/blood-2015-04-642488
- Janecke A, Dertinger S, Ketelsen UP, Bereuter L, Burkhard S, Müller T, Vogel W, Offner FA: Neonatal type IV glocogen storage disease associated with "null" mutations in glycogen branching enzyme 1 J Pediatr, 2004; 145: 705-709.
- Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Muller T: Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. Hum Mol Genet, 2015; 24 (23): 6614-6623. : http://dx.doi.org/10.1093/hmg/ddv367
- Janik-Moszant A, Barc-Czarnecka M, van der Burg M, Langerak AW, Hartwig NG, Vossen AC, Niemeyer CM, Wachowiak J, Sonta-Jakimczyk D, Szczepanski T: Concomitant EBV-related B-cell proliferation and juvenile myelomonocytic leukemia in a 2-year-old child. Leukemia Res, 2008; 32 (1): 181-184. : http://dx.doi.org/10.1016/j.leukres.2007.05.017
- Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet, 2016; 98 (2): 310-321. : http://dx.doi.org/10.1016/j.ajhg.2015.12.010
- Janzarik W, Kratz CP, Loges N, Olbrich H, Klein C, Schaefer T, Scheurlen W, Roggendorf W, Weiller C, Niemeyer CM, Korinthenberg R, Pfister S, Omran H: Further evidence for a somatic KRAS mutation in a low-grade astrocytoma. Neuropediatrics, 2007; 38: 61-63.
- Janzarik WG, Ehlers E, Ehmann R, Gerds TA, Schork J, Mayer S, Gabriel B, Weiller C, Prömpeler H, Reinhard M: Dynamic cerebral autoregulation in pregnancy and the risk of preeclampsia. Hypertension, 2014; 63 (1): 161-166. : http://dx.doi.org/10.1161/HYPERTENSIONAHA.113.01667
- Janzarik WG, Ehmann R, Ehlers E, Allignol A, Mayer S, Gabriel B, Weiller C, Prömpeler H, Reinhard M: Neurovascular coupling in pregnancy and the risk of preeclampsia. Stroke, 2014; 45 (9): 2792-2794. : http://10.116/STROKEAHA.114.006272.Epub 2014 Jul 17.
- Janzarik WG, Gerber AK, Markfeld-Erol F, Sommerlade L, Allignol A, Reinhard M: No long-term impairment of cerebral autoregulation after preeclampsia. Pregnancy Hypertens, 2018; 13: 171-173. : http://dx.doi.org/10.1016/j.preghy.2018.06.009
- Janzarik WG, Kratz CP, Loges NT, Olbrich H, Klein C, schäfer T, Scheurlen W, Roggendorf W, Weiller C, Niemeyer C, Korinthenberg R, Pfister S, Omran H: Further Evidence for a Somatic KRAS Mutation in a Pilocytic Astrocytoma. Neuropediatrics, 2007; 38: 1-3.
- Janzen N, Sander S, Terhardt M, Das AM, Sass JO, Kraetzner R, Rosewich H, Peter M, Sander J: Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum.
J Lipid Res, 2010; 51 (6): 1591-1598. : http://dx.doi.org/10.1194/jlr.D003814
- Jean G, Fuchshuber A, Town MM, Gribouval O, Jerry A, Schneider A, Broyer M, van Hoff W, Niaudet P, Antignac C: High resolution mapping of the gene for cystinosis using combined biochemical and linkage analysis. Am. J. Hum. Genet., 1996; 58: 535-543.
- Jequier Gygax M,, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A,, Ballhausen D,, Bonafé L.: Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr, 2009; 168 (8): 957-962.
- Jerez A, Clemente MJ, Makishima H, Koskela H, Leblanc F, Peng Ng K, Olson T, Przychodzen B, Afable M, Gomez-Segui I, Guinta K, Durkin L, Hsi ED, McGraw K, Zhang D, Wlodarski MW, Porkka K, Sekeres MA, List A, Mustjoki S, Loughran TP, Maciejewski JP: STAT3 mutations unify the pathogenesis of chronic lymphoproliferative disorders of NK cells and T-cell large granular lymphocyte leukemia. Blood, 2012; 120 (15): 3048-3057. : http://dx.doi.org/10.1182/blood-2012-06-435297
- Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kögl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S: The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood, 2013; 121 (15): 2943-2951. : http://dx.doi.org/10.1182/blood-2012-10-463166
- Jessen B, Bode SF, Ammann S, Chakravorty S, Davies G, Diestelhorst J, Frei-Jones M, Gahl WA, Gochuico BR, Griese M, Griffiths G, Janka G, Klein C, Kogl T, Kurnik K, Lehmberg K, Maul-Pavicic A, Mumford AD, Pace D, Parvaneh N, Rezaei N, de Saint Basile G, Schmitt-Graeff A, Schwarz K, Karasu GT, Zieger B, Zur Stadt U, Aichele P, Ehl S: The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2. Blood, 2013; 121 (15): 2943-2951. : http://dx.doi.org/10.1182/blood-2012-10-463166
- Jessen B, Maul-Pavicic A, Ufheil H, Vraetz T, Enders A, Lehmberg K, Längler A, Gross-Wieltsch U, Bay A, Kaya Z, Bryceson YT, Koscielniak E, Badawy S, Davies G, Hufnagel M, Schmitt-Gräff A, Aichele P, zur Stadt U, Schwarz K, Ehl S: Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome Blood, 2011; 118: 4620-4629. : http://dx.doi.org/10.1182/blood-2011-05-356113
- Jochum F,, Nomayo A, Hentschel R, Leuchter M, Fusch Ch.: Somatostatin - therapeutic option for chylothorax in preterm neonates. Report on two patients and review of the literature. Georgian Med News, 2011; 193: 69-76.
- Johnston JJ,, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG: Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat, 2010; 31 (10): 1142-1154.
- Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ: Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. Mitochondrion, 2011; 11 (6): 954-963. : http://dx.doi.org/10.1016/j.mito.2011.08.012
- Jones DT, Jager N, Kool M, Zichner T, Hutter B, Sultan M, Cho YJ, Pugh TJ, Hovestadt V, Stutz AM, Rausch T, Warnatz HJ, Ryzhova M, Bender S, Sturm D, Pleier S, Cin H, Pfaff E, Sieber L, Wittmann A, Remke M, Witt H, Hutter S, Tzaridis T, Weischenfeldt J, Raeder B, Avci M, Amstislavskiy V, Zapatka M, Weber UD, Wang Q, Lasitschka B, Bartholomae CC, Schmidt M, von Kalle C, Ast V, Lawerenz C, Eils J, Kabbe R, Benes V, van Sluis P, Koster J, Volckmann R, Shih D, Betts MJ, Russell RB, Coco S, Tonini GP, Schuller U, Hans V, Graf N, Kim YJ, Monoranu C, Roggendorf W, Unterberg A, Herold-Mende C, Milde T, Kulozik AE, von Deimling A, Witt O, Maass E, Rossler J, Ebinger M, Schuhmann MU, Fruhwald MC, Hasselblatt M, Jabado N, Rutkowski S, von Bueren AO, Williamson D, Clifford SC, McCabe MG, Collins VP, Wolf S, Wiemann S, Lehrach H, Brors B, Scheurlen W, Felsberg J, Reifenberger G, Northcott PA, Taylor MD, Meyerson M, Pomeroy SL, Yaspo ML, Korbel JO, Korshunov A, Eils R, Pfister SM, Lichter P: Dissecting the genomic complexity underlying medulloblastoma. Nature, 2012; 488 (7409): 100-105. : http://dx.doi.org/10.1038/nature11284
- Jonitz W., Brockstedt M., Oberdisse U., Brandis M.: Primäre Giftentfernung Monatsschrift Kinderheilkunde, 1999; 147: 9-13.
- Joseph JM, Bouquet C, Opolon P, Morizet J, Aubert G, Rossler J, Gross N, Griscelli F, Perricaudet M, Vassal G: High level of stabilized angiostatin mediated by adenovirus delivery does not impair the growth of human neuroblastoma xenografts. Cancer Gene Ther, 2003; 10 (11): 859-866. : http://dx.doi.org/10.1038/sj.cgt.7700639
- Juenger H *, Kuhnke N *, Braun C, Ummenhofer F, Wilke M, Walther M, Koerte I, Delvendahl I, Jung NH, Berweck S, Staudt M, Mall V: Two types of exercise-induced neuroplasticity in congenital hemiparesis: a transcranial magnetic stimulation, functional MRI, and magnetoencephalographie study Dev Med Child Neurol, 2013; 55 (10): 941-951. : http://dx.doi.org/10.1111/dmcn.12209
- Juengling F, Kassubek J, Martens-Le Bouar H, Reinhardt M, Krause T, Nitzsche E, Moser E, Korinthenberg R: Cerebral regional hypometabolism caused by propofol-induced sedation in children with severe myoclonic epilepsy: a study using fluorodeoxyglucose positron emission tomography and statistical parametric mapping Neurosci Lett, 2002; 335: 79-82.
- Jumaa H, Bossaller L, Portugal K, Storch B, Lotz M, Flemming A, Schrappe M, Postila V, Riikonen P, Pelkonen J, Niemeyer CM, Reth M: Deficiency of the adaptor SLP-65 in pre-B-cell acute lymphoblastic leukaemia. Nature, 2003; 423 (6938): 452-456. : http://dx.doi.org/10.1038/nature01608
- Jung B, Foll D, Bottler P, Petersen S, Hennig J, Markl M: Detailed analysis of myocardial motion in volunteers and patients using J Magn Reson Imaging, 2006; 24 (5): 1033-1039.
- Jung J, Hermanns-Clausen M, Weinmann W: Anorectic sibutramine detected in a Chinese herbal drug for weight loss. Forensic Sci Int, 2006; 161 (2-3): 221-222.
- Jung N, Delvendahl I, Kuhnke N, Hauschke D, Stolle S, Mall V: Navigated transcranial magnetic stimulation does not decrease the variability of motor-evoked potentials. Brain Stimul, 2010; 3: 87-94. : http://dx.doi.org/10.1016/j.brs.2009.10.003
- Jung N, Heinen F, Westhoff B, Doederlein L, Reissig A, Berweck S, Linder-Lucht M, Schandelmaier S, Mall V: Hip lateralisation in children with bilateral spastik cerebral palsy treated with Botulinum Toxin Type A: A 2-year follow-up Neuropediatrics, 2011; 42: 18-23.
- Jung NH, Delvendahl I, Pechmann A, Gleich B, Gattinger N, Siebner HR, Mall V: Transcranial magnetic stimulation with a half-sine wave pulse elicits direction-specific effects in human motor cortex. Bmc Neurosci, 2012; 13 (online): 139-139. : http://dx.doi.org/10.1186/1471-2202-13-139
- Jung NH, Janzarik WG, Delvendahl I, Munchau A, Biscaldi M, Mainberger F, Baumer T, Rauh R, Mall V: Impaired induction of long-term potentiation-like plasticity in patients with high-functioning autism and Asperger syndrome16586. Dev Med Child Neurol, 2013; 55 (1): 83-89.
- Jung R, Rauch A, Salomons GS, Verhoeven NM, Jakobs C, Michael Gibson K, Lachmann E, Sass JO, Trautmann U, Zweier C, Staatz G, Knerr I: Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity. Mol Genet Metab, 2006; 88 (3): 256-260.
- Jungraithmayr T, Reschke M, Grebe SO, Lange H, Radsak K, Müller TF: Assessment of cytomegalovirus infections using neopterin and a new immunoblot. Clin Chim Acta, 2001; 310: 63-69.
- Jungraithmayr T, Staskewitz A, Kirste G, Boswald M, Bulla M, Burghard R, Dippell J, Greiner C, Klare B, Klaus G, Leichter H, Misselwitz J, Patzer L, Querfeld U, Rascher W, Tonshoff B, Wiesel M, Brandis M, Zimmerhackl LB: Prevalence of arterial hypertension and its morbidity in children and adolescents 3 years after renal transplantation with mycophenolate mofetil-based immunosuppression. Transplant P, 2002; 34 (6): 2215-2215.
- Jurk K,, Schulz AS, Kehrel BE, Räpple D, Schulze H, Möbest D, Friedrich WW, Omran H, Deak E, Henschler R, Scheele JS,, Zieger B: Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3. Thromb Haemostasis, 2010; 103 (5): 1053-1064.
- Kadish NE, Bast T, Reuner G, Wagner K, Mayer H, Schubert-Bast S, Wiegand G, Strobl K, Brandt A, Korinthenberg R, van Velthoven V, Schulze-Bonhage A, Zentner J, Ramantani G: Epilepsy Surgery in the First 3 Years of Life: Predictors of Seizure Freedom and Cognitive Development. Neurosurgery, 2018. : http://dx.doi.org/10.1093/neuros/nyy376 (in Druck)
- Kaiser R, Kern A, Fressler R, Steinbrecher A, Omran H, Malzacher V, Kügler D, Kampa D, Batsford S: Zeckenvermittelte Erkrankungen in Baden-Württemberg. Münch. Med. Wschr., 1996; 138: 647-652.
- Kalbhenn J, Neuffer N, Zieger B, Schmutz A: Is Extracorporeal CO2 Removal Really "Safe" and "Less" Invasive? Observation of Blood Injury and Coagulation Impairment during ECCO2R. Asaio J, 2017; 63 (5): 666-671. : http://dx.doi.org/10.1097/MAT.0000000000000544
- Kalbhenn J, Schlagenhauf A, Rosenfelder S, Schmutz A, Zieger B: Acquired von Willebrand syndrome and impaired platelet function during venovenous extracorporeal membrane oxygenation: Rapid onset and fast recovery. J Heart Lung Transpl, 2018; 37 (8): 985-991. : http://dx.doi.org/10.1016/j.healun.2018.03.013
- Kalbhenn J, Schmidt R, Nakamura L, Schelling J, Rosenfelder S, Zieger B: Early diagnosis of acquired von Willebrand syndrome (AVWS) is elementary for clinical practice in patients treated with ECMO theapy. J Atheroscler Thromb, 2015; 22 (3): 265-271. : http://dx.doi.org/10.5551/jat.27268
- Kalbhenn J, Wittau N, Schmutz A, Zieger B, Schmidt R: Identification of acquired coagulation disorders and effects of target-controlled coagulation factor substitution on the incidence and severity of spontaneous intracranial bleeding during veno-venous ECMO therapy. Perfusion-uk, 2015; 30 (8): 675-682. : http://dx.doi.org/10.1177/0267659115579714
- Kalim A, Fitzsimons P, Till C, Fernando M, Mayne P, Sass JO, Crushell E: Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder. Brain Dev-jpn, 2017; 39 (6): 536-538. : http://dx.doi.org/10.1016/j.braindev.2017.01.005
- Kamin W, Kopp MV, Erdnuess F, Schauer U, Zielen S, Wahn U: Safety of anti-IgE treatment with omalizumab in children with seasonal allergic rhinitis undergoing specific immunotherapy simultaneously. Pediatr Allergy Immu, 2010; 21: e160-e165. : http://dx.doi.org/10.1111/j.1399-3038.2009.00900.x
- Kamphuis MB, Monti MC, van den Heuvel RH,, Santos-Sierra S, Folkers GE, Lemonnier M, Díaz-Orejas R, Heck AJ, Boelens R.: Interactions between the toxin Kid of the bacterial parD system and the antitoxins Kis and MazE. Proteins, 2007; 67 (1): 219-231.
- Kanda J, Brazauskas R, Hu ZH, Kuwatsuka Y, Nagafuji K, Kanamori H, Kanda Y, Miyamura K, Murata M, Fukuda T, Sakamaki H, Kimura F, Seo S, Aljurf M, Yoshimi A, Milone G, Wood WA, Ustun C, Hashimi S, Pasquini M, Bonfim C, Dalal J, Hahn T, Atsuta Y, Saber W: Graft-versus-Host Disease after HLA-Matched Sibling Bone Marrow or Peripheral Blood Stem Cell Transplantation: Comparison of North American Caucasian and Japanese Populations. Biol Blood Marrow Tr, 2016; 22 (4): 744-751. : http://dx.doi.org/10.1016/j.bbmt.2015.12.027
- Kapellen TM, Müther S, Schwandt A, Grulich-Henn J, Schenk B, Schwab KO, Marg W, Holl RW: Transition to adult diabetes care in Germany-High risk for acute complications and declining metabolic control during the transition phase.
Pediatr Diabetes, 2018. (in Druck)
- Kapp FG, Maurer HH, Auwarter V, Winkelmann M, Hermanns-Clausen M: Intrahepatic cholestasis following abuse of powdered kratom (Mitragyna speciosa). J Med Toxicol, 2011; 7 (3): 227-231. : http://dx.doi.org/10.1007/s13181-011-0155-5
- Kapp FG, Maurer HH, Auwarter V, Winkelmann M, Hermanns-Clausen M: Intrahepatic cholestasis following abuse of powdered kratom (Mitragyna speciosa). J Med Toxicol, 2011; 7 (3): 227-231. : http://dx.doi.org/10.1007/s13181-011-0155-5
- Kapp FG, Perlin JR, Hagedorn EJ, Gansner JM, Schwarz DE, O'Connell LA, Johnson NS, Amemiya C, Fisher DE, Wolfle U, Trompouki E, Niemeyer CM, Driever W, Zon LI: Protection from UV light is an evolutionarily conserved feature of the haematopoietic niche. Nature, 2018; 558: 445-448. : http://dx.doi.org/10.1038/s41586-018-0213-0
- Kappstein K, Grundmann H, Hauer T, Niemeyer C: Aerators as a reservoir of Acinetobacter junii: an outbreak of bacteraemia in paediatric oncology patients. J Hosp Infect, 2000; 44 (1): 27-30.
- Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Holker I, Altmueller J, Naghiyeva L, Schmitz-Steinkruger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nurnberg P, Heller R, Wirth B: Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies. Hum Mutat, 2018; 39 (9): 1284-1298. : http://dx.doi.org/10.1002/humu.23560
- Kardos G, Baumann I, Passmore SJ, Locatelli F, Hasle H, Schultz KR, Stary J, Schmitt-Graeff A, Fischer A, Harbott J, Chessells JM, Hann I, Fenu S, Rajnoldi AC, Kerndrup G, Van Wering E, Rogge T, Nollke P, Niemeyer CM: Refractory anemia in childhood: a retrospective analysis of 67 patients with particular reference to monosomy 7. Blood, 2003; 102 (6): 1997-2003. : http://dx.doi.org/10.1182/blood-2002-11-3444
- Kari FA, Kroll J, Kiss J, Hess C, Stiller B, Siepe M, Beyersdorf F: Progression of Aortic Regurgitation After Different Repair Techniques for Congenital Aortic Valve Stenosis. Pediatr Cardiol, 2016; 37 (1): 84-89. : http://dx.doi.org/10.1007/s00246-015-1243-0
- Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A: Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol, 2002; 13 (2): 388-393.
- Karmaus W, Arshad H, Mattes J.: Does the sibling effect have its origin in utero? Investigating birth order, cord blood immunoglobulin E concentration, and allergic sensitization at age 4 years. Am J Epidemiol, 2001; 154: 909-915.
- Karow A, Flotho C, Schneider M, Fliegauf M, Niemeyer CM: Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia--do we have to screen? Haematologica, 2010; 95 (4): 689-690. : http://dx.doi.org/10.3324/haematol.2009.015008
- Karow A, Hainmann I, Nakamura I, Budde U, Mueller C, Zieger B: Progressive thrombosis in a 13-year-old girl with trisomy 21 under theapy with low molecular weight heparin. Klin Padiatr, 2011; 223 (2): 180-181.
- Karow A, Steinemann D, Gohring G, Hasle H, Greiner J, Harila-Saari A, Flotho C, Zenker M, Schlegelberger B, Niemeyer CM, Kratz CP: Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome. Leukemia, 2007; 21 (6): 1303-1305. : http://dx.doi.org/10.1038/sj.leu.2404651
- Karow A, Waller C, Reimann C, Niemeyer CM, Kratz CP: JAK2 mutations other than V617F: a novel mutation and mini review. Leukemia Res, 2008; 32 (2): 365-366. : http://dx.doi.org/10.1016/j.leukres.2007.02.018
- Kartal-Kaess, M, Shore EM, Xu M, Schwering L, Uhl M, Korinthenberg R, Niemeyer C, Kaplan FS, Lauten M: Fibrodysplasia ossificans progressiva (FOP): watch the great toes! Eur J Pediatr, 2010; 169: 1417-1421.
- Kartal-Kaess M, Shore EM, Xu M, Schwering L, Uhl M, Korinthenbeg R, Niemeyer CM, Kaplan FS, Lauten M: Fibrodysplasia ossificans progressiva (FOP): watch the great toes! Eur J Pediatr, 2010; 169 (11): 1417-1421.
- Kasten P, Schnöink G, Bergmann A, Papoutsi M, Buttler K, Rössler J, Weich HA, Wilting J: Similarities and differences of human and experimental mouse lymphangiomas. Dev Dynam, 2007; 236: 2952-2961.
- Kathemann S, Bechmann LP, Sowa JP, Manka P, Dechene A, Gerner P, Lainka E, Hoyer PF, Feldstein AE, Canbay A: Etiology, outcome and prognostic factors of childhood acute liver failure in a German Single Center. Ann Hepatol, 2015; 14 (5): 722-728.
- KECK C, WILHELM C, WELLENS E, KORINTHENBERG R, BRECKWOLDT M: Fetal cerebral AV-Malformation and cardiomegaly, diagnostic and therapeutic problems. J. Perinat. Med., 1998; 26: 225-230.
- Keller B, Yang T, Chen Y, Munivez E, Bertin T, Zabel B, Lee B: Interaction of TGFbeta and BMP signaling pathways during chondrogenesis. Plos One, 2011; 6 (1) (online): e16421. : http://dx.doi.org/10.1371/journal.pone.0016421
- Keller SS*,, Schoene-Bake JC*,, Gerdes JS,, Weber B,, Deppe M: Concomitant fractional anisotropy and volumetric abnormalities in temporal lobe epilepsy: cross-sectional evidence for progressive neurologic injury. Plos One, 2012; 7 (10): 1-12. : http://doi: 10.1371/journal.pone.0046791
- Kemper MJ, Gellermann J, Habbig S, Krmar RT, Dittrich K, Jungraithmayr T, Pape L, Patzer L, Billing H, Weber L, Pohl M, Rosenthal K, Rosahl A, Mueller-Wiefel DE, Dötsch J: Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome. Nephrol Dial Transpl, 2011. : http://dx.doi.org/10.1093/ndt/gfr548 (in Druck)
- Kemper MJ, Gellermann J, Habbig S, Krmar RT, Dittrich K, Jungraithmayr T, Pape L, Patzer L, Billing H, Weber L, Pohl M, Rosenthal K, Rosahl A, Mueller-Wiefel DE, Dotsch J: Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome. Nephrol Dial Transpl, 2012; 27 (5): 1910-1915. : http://dx.doi.org/10.1093/ndt/gfr548
- Kempf J, Stedtler U, Neusüss C, Weinmann W, Auwärter V: Identification of sinicuichi alkaloids in human serum after intoxication caused by oral intake of a Heimia salicifolia extract. Forensic Sci Int, 2008; 179: 2-3.
- Kenet G, Kirkham F, Niederstadt T, Heinecke A, Saunders D, Stoll M, Brenner B, Bidlingmaier C, Heller C, Knofler R, Schobess R, Zieger B, Sebire G, Nowak-Gottl U: Risk factors for recurrent venous thromboembolism in the European collaborative paediatric database on cerebral venous thrombosis: a multicentre cohort study. Lancet Neurol, 2007; 6 (7): 595-603.
- Kennedy MP, Omran H, Leigh MW, Dell S, Morgan I, Molina P, Robinson BV, Minnix S, Olbrich H, Severin T, Ahrens P, Lange L, Knowles MR: Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia Circulation, 2007; 115: 2814-2821.
- Kennedy MP, Omran H, Leigh MW, Dell S, Morgan L, Molina PL, Robinson BV, Minnix SL, Olbrich H, Severin T, Ahrens P, Lange L, Morillas HN, Noone PG, Zariwala MA, Knowles MR: Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation, 2007; 115 (22): 2814-2821.
- Kenzel S, Henneke P: The innate immune system and its relevance to neonatal sepsis. Curr Opin Infect Dis, 2006; 19 (3): 264-270. : http://dx.doi.org/10.1097/01.qco.0000224821.27482.bd
- Kenzel S, Hufnagel M, Berner R, Henneke P: [Pneumococcal vaccination and serotype replacement: Do we need new vaccination concepts?]. Deut Med Wochenschr, 2010; 135 (23): 1198-1200. : http://dx.doi.org/10.1055/s-0030-1247868
- Kenzel S, Mancuso G, Malley R, Teti G, Golenbock DT, Henneke P: c-Jun kinase is a critical signaling molecule in a neonatal model of group B streptococcal sepsis. J Immunol, 2006; 176 (5): 3181-3188.
- Kenzel S, Mancuso G, Malley R, Teti G, Golenbock DT, Henneke P: c-Jun kinase is a critical signaling molecule in a neonatal model of group B streptococcal sepsis. J Immunol, 2006; 176 (5): 3181-3188.
- Kenzel S, Mergen M, von Susskind-Schwendi J, Wennekamp J, Deshmukh SD, Haeffner M, Triantafyllopoulou A, Fuchs S, Farmand S, Santos-Sierra S, Seufert J, van den Berg TK, Kuijpers TW, Henneke P: Insulin modulates the inflammatory granulocyte response to streptococci via phosphatidylinositol 3-kinase. J Immunol, 2012; 189 (9): 4582-4591. : http://dx.doi.org/10.4049/jimmunol.1200205
- Kenzel S, Mergen M, von Süßkind-Schwendi J, Wennekamp J, Deshmukh SD, Haeffner M, Triantafyllopoulou A, Fuchs S, Farmand S, Santos-Sierra S, Seufert J, van den Berg TK, Kuijpers TW, Henneke P: Insulin modulates the inflammatory granulocyte response to Streptococci via phosphatidylinositol 3-kinase. J Immunol, 2012; 189 (9): 4582-4591. : http://dx.doi.org/10.1084/jem.20110540
- Kenzel S, Santos-Sierra S, Deshmukh SD, Moeller I, Ergin B, Fitzgerald KA, Lien E, Akira S, Golenbock DT, Henneke P: Role of p38 and early growth response factor 1 in the macrophage response to group B streptococcus. Infect Immun, 2009; 77 (6): 2474-2481. : http://dx.doi.org/10.1128/IAI.01343-08
- Kenzel S, Santos-Sierra S, Deshmukh SD, Moeller I, Ergin B, Fitzgerald KA, Lien E, Akira S, Golenbock DT, Henneke P: Role of p38 and early growth response factor 1 in the macrophage response to group B streptococcus. Infect Immun, 2009; 77 (6): 2474-2481. : http://dx.doi.org/10.1128/IAI.01343-08
- Kepron C, Blumenthal A, Chitayat D, Cutz E, Superti-Furga A, Keating S: An autophagic vacuolar myopathy-like disorder presenting as nonimmune hydrops in a female fetus. Pediatr Devel Pathol, 2009; 12 (1): 53-58. : http://dx.doi.org/10.2350/07-11-03670.1
- Kerber K, Dümpelmann M, Schelter B, Le Van P, Korinthenberg R, Schulze-Bonhage A, Jacobs J: Differentiation of specific ripple patterns helps to identify epileptogenic areas for surgical procedures Clin Neurophysiol, 2014; 125 (7): 1339-1345. : http://dx.doi.org/10.1016/j.clinph.2013.11.030
- Kerber K, Le Van P, Dümpelmann M, Fauser S, Korinthenberg R, Schulze-Bonhage A, Jacobs J: High frequency oscillations mirror disease activity in patients with focal cortical dysplasia Epilepsia, 2013; 54 (8): 1428-1436.
- Kern JS, Herz C, Haan E, Moore D, Nottelmann S, von Lilien T, Greiner P, Schmitt-Graeff A, Opitz OG, Bruckner-Tuderman L, Has C: Chronic colitis due to an epithelial barrier defect: the role of kindlin-1 isoforms. J Pathol, 2007; 213 (4): 462-470.
- Kern S, Uhl M, Berner R, Schwoerer F, Langer M: Respiratory syncytial virus infection of the lower respiratory tract: radiological findings in 108
children Eur Radiol, 2001; 11 (12): 2581-2584.
- Kern S, Zimmerhackl LB, Hildebrandt F, Ermisch-Omran B, Uhl M: Appearance of autosomal recessive polycystic kidney disease in magnetic resonance imaging and RARE-MR-urography. Pediatr Radiol, 2000; 30: 156-160.
- Kern S., Zimmerhackl LB., Hildebrandt F., Uhl M.: Rare-MR-urography - a new diagnostic method in autosomal recessive polycystic kidney disease. Acta Radiol., 1999; 40: 543-544.
- Kerstan D, Gordjani N, Nitschke R, Greger R, Leipziger J: Luminal addition of ATP induces K+ secretion via a P2Y2 receptor in rat distal colonic mucosa. Plügers Arch-European Journal of Physiology, 1998; 436: 712-716.
- Kerst G, Niemeyer C, Hildebrandt F, Foldi E, Uhl M, Brandis M, Horch RG.: Use of a myocutaneous flap after resection of a large lymphangioma. Eur J Pediatr Surg, 2001; 11: 139-141.
- Ketelsen U, Brand-Saberi B, Uhlenberg B, Wagner M, Laberke H.-G., Omran H: Congenital Myopathy with Arrest of Myogenesis Prior to Formation of Myotubes Neuropediatrics, 2005; 36: 246-251.
- Ketelsen U-P: Desmin Myopathy. Aktuelle Neurol. (Suppl.1995), 1995; 22: 15.
- Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grunhagen J, Krawitz P, Hecht J, Schinke T, Makareeva E, Lausch E, Cankaya T, Caparros-Martin JA, Lapunzina P, Temtamy S, Aglan M, Zabel B, Eysel P, Koerber F, Leikin S, Garcia KC, Netzer C, Schonau E, Ruiz-Perez VL, Mundlos S, Amling M, Kornak U, Marini J, Wollnik B: Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet, 2013; 92 (4): 565-574. : http://dx.doi.org/10.1016/j.ajhg.2013.02.010
- Keuth B, Alon U, Fuchshuber A, Michalk D, Querfeld U: Aplasia of the cerebellar vermis associated with chronic renal disease. Eur. J. Pediatr., 1996; 155: 963-967.
- Kikuchi K, Hettmer S, Aslam MI, Michalek JE, Laub W, Wilky BA, Loeb DM, Rubin BP, Wagers AJ, Keller C: Cell-cycle dependent expression of a translocation-mediated fusion oncogene mediates checkpoint adaptation in rhabdomyosarcoma. Plos Genet, 2014; 10 (1): e1004107-e1004107. : http://dx.doi.org/10.1371/journal.pgen.1004107
- Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP: Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature, 2013; 495 (7442): 467-473. : http://dx.doi.org/10.1038/nature11922
- Kim OH, Cho TJ, Song HR, Chung CY, Miyagawa S, Nishimura G, Superti-Furga A, Unger S: A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skeletal Radiol, 2009; 38 (8): 803-811. : http://dx.doi.org/10.1007/s00256-009-0671-4
- Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A: A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A, 2010; 152 (4): 875-885. : http://dx.doi.org/10.1002/ajmg.a.33347
- Kim Y, Zheng X, Ansari Z, Bunnell MC, Herdy JR, Traxler L, Lee H, Paquola ACM, Blithikioti C, Ku M, Schlachetzki JCM, Winkler J, Edenhofer F, Glass CK, Paucar AA, Jaeger BN, Pham S, Boyer L, Campbell BC, Hunter T, Mertens J, Gage FH: Mitochondrial Aging Defects Emerge in Directly Reprogrammed Human Neurons due to Their Metabolic Profile. Cell Rep, 2018; 23 (9): 2550-2558. : http://dx.doi.org/10.1016/j.celrep.2018.04.105
- Kiraz A, Akin MA, Arslan A, Zabel B, Lausch E: A NOVEL MUTATION ASSOCIATED WITH NEPHROLITIHASIS IN ELLIS-VAN CREVELD SYNDROME. Genet Counsel, 2015; 26 (3): 377-379.
- Kirchhoff A, Uhl M, Berner R, Bonafé L, Superti-Furga A, Ehl S: Clinical, radiographic and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy Rheumatol Int, 2003. (in Druck)
- Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S: Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol, 2005; 26 (1): 66-72.
- Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S: Echocardiographic and Electrocardiographic Findings of Cardiomyopathy in Duchenne and Becker-Kiener Muscular Dystrophies Pediatr Cardiol, 2005; 26: 66-72.
- Kirschner J, Berweck S, Mall V, Korinthenberg R, Heinen F: Botulinum toxin treatment in cerebral palsy: evidence for a new treatment option J Neurol, 2001; 248 Suppl. 1: 28-30.
- Kirschner J, Berweck S, Mall V, Korinthenberg R, Heinen F: Botulinumtoxin - Neue Therapieoption für Kinder mit Zerebralparese Deutsches Ärzteblatt, 2001; 50: 3375-3379.
- Kirschner J, Bönnemann C: The Congenital and Limb-Girdle Muscular Dystrophies Arch Neurol-chicago, 2004; 61: 189-199.
- Kirschner J, Brune T, Wehnert M, Dencke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Boennemann CG, Korinthenberg R: p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria Ann Neurol, 2004; 57: 148-151.
- Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Boennemann CG: p.S143F mutation in lamin A/C: A new phenotype combining myopathy and progeria Ann Neurol, 2005; 57: 148-151.
- Kirschner J, Hausser I, Zou Y, Schreiber G, Christen HJ, Brown SC, Anton-Lamprecht I, Muntoni F, Hanefeld F, Bonnemann CG: Ullrich congenital muscular dystrophy: Connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes Am J Med Genet, 2004; 132: 296-301.
- Kirschner J, Korinthenberg R: Neuromuskuläre Erkrankungen im Kindesalter Pädiatrische Praxis, 2007; 70: 385-400.
- Kirschner J, Lochmuller H: Sarcoglycanopathies. Handb Clin Neurol, 2011; 101: 41-46. : http://dx.doi.org/10.1016/B978-0-08-045031-5.00003-7
- Kirschner J, Moll GH, Fietzek U, Heinrich H, Mall V, Heinen F, Rothenberger A, Berweck S: Methylphenidate Enhances Both Intracortical Inhibition and Facilitation in Healthy Adults Pharmacopsychiatry, 2003; 36: 79-82.
- Kirschner J, Schessl J, Schara U, Reitter B, Stettner GM, Hobbiebrunken E, Wilichowski E, Bernert G, Weiss S, Stehling F, Wiegand G, Müller-Felber W, Thiele S, Grieben U, Hagen von der, M, Lütschg J, Schmoor C, Ihorst G, Korinthenberg R: Treatment of Duchenne muscular dystrophy with ciclosporin A: a randomised, double-blind, placebo-controlled multicentre trial Lancet Neurol, 2010; 9: 1053-1059. : http://dx.doi.org/10.1016/S1474-4422(10)70196-4
- Kirschner J, Schorling D, Hauschke D, Rensing-Zimmermann C, Wein U, Grieben U, Schottmann G, Schara U, Konrad K, Muller-Felber W, Thiele S, Wilichowski E, Hobbiebrunken E, Stettner GM, Korinthenberg R: Somatropin treatment of spinal muscular atrophy: a placebo-controlled, double-blind crossover pilot study. Neuromuscular Disord, 2014; 24 (2): 134-142. : http://dx.doi.org/10.1016/j.nmd.2013.10.011
- Kirschner J, Schoser B: [Innovative therapeutic approaches for hereditary neuromuscular diseases]. Nervenarzt, 2018; 89 (10): 1115-1122. : http://dx.doi.org/10.1007/s00115-018-0599-9
- Kirschner J et al: Ullrich congenital muscular dystrophy: connective tissue abnormalities in the skin support overlap with Ehlers-Danlos syndromes. Am J Med Genet A, 2005; 132: 296-301.
- Kirschner M, Maurer A, Wlodarski MW, Ventura Ferreira MS, Bouillon AS, Halfmeyer I, Blau W, Kreuter M, Rosewich M, Corbacioglu S, Beck J, Schwarz M, Bittenbring J, Radsak MP, Wilk CM, Koschmieder S, Begemann M, Kurth I, Schemionek M, Brummendorf TH, Beier F: Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Leukemia, 2018; 32 (8): 1762-1767. : http://dx.doi.org/10.1038/s41375-018-0125-x
- Kishikawa M, Sass JO, Sakura N, Nakanishi T, Shimizu A, Yoshioka M: The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry. Bba-mol Basis Dis, 2002; 1588 (2): 135-138.
- Kispert A, Petry M, Olbrich H, Volz A, Ketelsen UP, Horvath J, Melkaoui R, Omran H, Zariwala M, Noone PG, Knowles M: Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations. Thorax, 2003; 58 (6): 552-554.
- Klambt V, Panning M, Seidl M, Haeffner K, Pohl M: Ribavirin therapy of hepatitis E infection may cause hyporegenerative anemia in pediatric renal transplant patients. Pediatr Transplant, 2018; 22 (4) (online): e13195-e13195. : http://dx.doi.org/10.1111/petr.13195
- Klämbt V, Gimpel C, Bald M, Gerken C, Billing H, Loos S, Hansen M, König J, Vinke T, Montoya C, Sperandio BL, Kirschstein M, Hennies I, Pohl M, Häffner K: Different approaches to long-term treatment of aHUS due to MCP mutations: a multicenter analysis. Pediatr Nephrol, 2020. : http://dx.doi.org/10.1007/s00467-020-04714-0
- Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, Quinlivan R, Straub V, Manzur AY, Roper H, Jeannet PY, Rakowicz W, Jones DH, Jensen UB, Wraige E, Trump N, Schara U, Lochmuller H, Sarkozy A, Kingston H, Norwood F, Damian M, Kirschner J, Longman C, Roberts M, Auer-Grumbach M, Hughes I, Bushby K, Sewry C, Robb S, Abbs S, Jungbluth H, Muntoni F: Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat, 2012; 33 (6): 981-988. : http://dx.doi.org/10.1002/humu.22056
- Klein C, Philipp T, Greiner P, Strobelt M, Müller H, Trautwein T, Brandis M, Manns M: Asymptomatic autoimmune hepatitis associated with anti-LC-1 autoantibodies. J Ped Gastroent Nutr, 1996.
- Kleinert L, Barth M: Elternbeteiligung bei der Einschätzung des familiären Unterstützungsbedarfs in der Pädiatrie Prävention und Gesundheitsförderung, 2015; 10 (2): 186-191. (download: http://10.1007/s11553-014-0480-z)
- Kleinert Leni,, Barth Michael: Elternbeteiligung bei der Einschätzung des familiären Unterstützungsbedarf in der Pädiatrie. Prävention und Gesundheitsförderung, 2014 (online). : http://DOI 10.1007/s11553-014-0480-z
- Kleine-Tebbe J, Fuchs T, Klimek L, Kühr J, Lepp U, Niggemann B, Rakoski J, Renz H, Saloga J, Simon J: Allergen Immunotherapy - A Position Paper of the German Society for Allergology and Clinical Immunology (Artikel auf deutsch). Pneumologie, 2001; 55: 438-444.
- Klein R, Franck P, Ehl S, Schmitt-Graeff A, Duffner U, Niemeyer CM: Polymyositis-an unusual presentation of cGvHD in children. Pediatr Transplant, 2007; 11 (2): 225-227.
- Klein R, Franck P, Ehl S, Schmitt-Graeff A, Duffner U, Niemeyer CM: Polymyositis-an unusual presentation of cGvHD in children. Pediatr Transplant, 2007; 11 (2): 225-227. : http://dx.doi.org/10.1111/j.1399-3046.2006.00615.x
- Klein R, Franck P, Ehl S, Schmitt-Graeff A, Duffner U, Niemeyer CM: Polymyositis-an unusual presentation of cGvHD in children. Pediatr Transplant, 2007; 11 (2): 225-227. : http://dx.doi.org/10.1111/j.1399-3046.2006.00615.x
- Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B: Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. Haematologica, 2017; 102 (2): e52-e56. : http://dx.doi.org/10.3324/haematol.2016.153411
- Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, Vraetz T, Speckmann C, Strahm B, Pasparakis M, Schwarz K, Ehl S, Rohr JC: Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin Immunol, 2016; 164: 52-56. : http://dx.doi.org/10.1016/j.clim.2016.01.010
- Klepper J, Leiendecker B, Heussinger N, Lausch E, Bosch F: Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet. Neuropediatrics, 2016; 47 (2): 132-136. : http://dx.doi.org/10.1055/s-0036-1572413
- Kletzl H, Marquet A, Gunther A, Tang W, Heuberger J, Groeneveld GJ, Birkhoff W, Mercuri E, Lochmuller H, Wood C, Fischer D, Gerlach I, Heinig K, Bugawan T, Dziadek S, Kinch R, Czech C, Khwaja O: The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy. Neuromuscular Disord, 2018. : http://dx.doi.org/10.1016/j.nmd.2018.10.001 (in Druck)
- Kley,R.A., Hellenbroich,Y.van d. Furst,D.O., Huebner,A., Bruchertseifer,V., Peters,S.A., Heyer,C.M., Kirschner,J., Schroder,R., Fischer,D., Muller,K., Tolksdorf,K., Eger,K., Germing,A., Brodherr,T., Reum,C., W, alter,M.C., Lochmuller,H.,, Ketelsen,U.P.,, Vorgerd,M.: Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients Brain, 2007; 130 (12): 3250-3264.
- Kley RA, Maerkens A, Leber Y, Theiss V, Schreiner A, van der Ven PF, Uszkoreit J, Stephan C, Eulitz S, Euler N, Kirschner J, Mueller K, Meyer HE, Tegenthoff M, Fuerst DO, Vorgerd M, Mueller T, Marcus K: A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics, 2013; 12 (1): 215-227. : http://dx.doi.org/10.1074/mcp.M112.023176
- Klopstock T, Bischof F, Gerok K, Deuschl G, Seibel, P, Ketelsen U-P, Reichmann H: 3.1-kb deletion of mitochondrial DNA in a patient with Kearns-Sayre syndrome. Acta Neuropath, 1995; 90: 126-129.
- Klostermeier UC, Limperger V, Kenet G, Kurnik K, Alhenc Gelas M, Finckh U, Junker R, Heller C, Zieger B, Knofler R, Holzhauer S, Mesters R, Krumpel A, Nowak-Gottl U: Role of protein S deficiency in children with venous thromboembolism. An observational international cohort study. Thromb Haemostasis, 2015; 113 (2): 426-433. : http://dx.doi.org/10.1160/TH14-06-0533
- Klotsche J, Raab A, Niewerth M, Sengler C, Ganser G, Kallinich T, Niehues T, Hufnagel M, Thon A, Hospach T, Horneff G, Minden K: Outcome and Trends in Treatment of Systemic Juvenile Idiopathic Arthritis in the German National Pediatric Rheumatologic Database, 2000-2013. Arthritis Rheumatol, 2016; 68 (12): 3023-3034. : http://dx.doi.org/10.1002/art.39796
- Klotz D, Jansen S, Gebauer C, Fuchs H: Handling of Breast Milk by Neonatal Units: Large Differences in Current Practices and Beliefs. Front Pediatr, 2018; 6 (online): 235-235. : http://dx.doi.org/10.3389/fped.2018.00235
- Klotz D, Joellenbeck M, Winkler K, Kunze M, Huzly D, Hentschel R: High-temperature short-time pasteurisation of human breastmilk is efficient in retaining protein and reducing the bacterial count. Acta Paediatr, 2017; 106 (5): 763-767. : http://dx.doi.org/10.1111/apa.13768
- Klotz D, Porcaro U, Fleck T, Fuchs H: European perspective on less invasive surfactant administration-a survey. Eur J Pediatr, 2017; 176 (2): 147-154. : http://dx.doi.org/10.1007/s00431-016-2812-9
- Klotz D, Schaefer C, Stavropoulou D, Fuchs H, Schumann S: Leakage in nasal high-frequency oscillatory ventilation improves carbon dioxide clearance-A bench study. Pediatr Pulm, 2017; 52 (3): 367-372. : http://dx.doi.org/10.1002/ppul.23534
- Klotz D, Schneider H, Schumann S, Mayer B, Fuchs H: Non-invasive high-frequency oscillatory ventilation in preterm infants: a randomised controlled cross-over trial. Arch Dis Child-fetal, 2018; 103 (4): F1-F5. : http://dx.doi.org/10.1136/archdischild-2017-313190
- Klotz D, Schreiner M, Falcone V, Jonas D, Kunze M, Weber A, Fuchs H, Hentschel R: High-Temperature Short-Time Treatment of Human Milk for Bacterial Count Reduction. Front Pediatr, 2018; 6 (online): 359-359. : http://dx.doi.org/10.3389/fped.2018.00359
- Klotz KA, Schulze-Bonhage A, Antonio-Arce VS, Jacobs J: Cannabidiol for Treatment of Childhood Epilepsy-A Cross-Sectional Survey. Front Neurol, 2018; 9: 731-731. : http://dx.doi.org/10.3389/fneur.2018.00731
- Knerr I, Metzler M, Niemeyer CM, Holter W, Gerecke A, Baumann I, Trollmann R, Repp R: Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. J Pediat Hematol Onc, 2003; 25 (12): 948-951.
- Knierim E, Hirata H, Wolf NI, Morales-Gonzalez S, Schottmann G, Tanaka Y, Rudnik-Schoneborn S, Orgeur M, Zerres K, Vogt S, van Riesen A, Gill E, Seifert F, Zwirner A, Kirschner J, Goebel HH, Hubner C, Stricker S, Meierhofer D, Stenzel W, Schuelke M: Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures. Am J Hum Genet, 2016; 98 (3): 473-489. : http://dx.doi.org/10.1016/j.ajhg.2016.01.006
- Knirsch W, Dodge-Khatami A, Kadner A, Kretschmar O, Steiner J, Bottler P, Kececioglu D, Harpes P, Valsangiacomo Buechel ER: Assessment of myocardial function in pediatric patients with operated tetralogy of Fallot: preliminary results with 2D strain echocardiography. Pediatr Cardiol, 2008; 29 (4): 718-725. : http://dx.doi.org/10.1007/s00246-008-9227-y
- Knirsch W, Finke CH, Kececioglu D: Zur Enokarditisprophylaxe bei kieferorthopädischen Eingriffen Kieferorthopädie, 2003; 17: 311-315.
- Knirsch W, Kurtz C, Haffner N, Langer M, Kececioglu D: Normal values of the sagittal diameter of the lumbar spine (vertebral body and dural sac) in children measured by MRI. Pediatr Radiol, 2005; 35: 419-424.
- Knirsch W, Mehwald P, Dittrich S, Kececioglu D: Restriktive Kardiomyopathie. Eine seltenes Krankheitsbild im Kindesalter Z Kardiol, 2004; 93: 566-573.
- Knöfler R, Eberl W, Schulze H, Bakchoul T, Bergmann F, Gehrisch S, Geisen C, Gotstein S, Halimeh S, Harbrecht U, Kappert G, Kirchmaier C, Kehrel B, Lösche W, Krause M, Mahnel R, Meyer O, Pilgrimm AK, Pillitteri D, Rott H, Santoso S, Siegemund A, Schambeck C, Scheer M, Schmugge M, Scholl T, Strauss G, Zieger B, Zotz R, Hermann M, Streif W: Diagnosis of inherited diseases of platelet function. Interdiscliplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thrombosis and Haemostasis Research (GTH e.V.). Hamostaseologie, 2014; 34: 201-212. : http://dx.doi.org/10.5482/HAMO-13-04-0024
- Knop S, Jakob A, Kanz L, Hebart H, Bares R, Dohmen B: 186Rhenium-labeled anti-CD20 antibody radioimmunotherapy followed by autologous peripheral blood stem cell transplantation in patients with relapsed or refractory non-Hodgkin lymphoma. Blood, 2004; 103 (3): 1175-1175. : http://dx.doi.org/10.1182/blood-2003-10-3593
- Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA: Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax, 2012; 67: 433-441. : http://dx.doi.org/10.1136/thoraxjnl-2011-200301
- Koch K, Auwarter V, Hermanns-Clausen M, Wilde M, Neukamm MA: Mixed intoxication by the synthetic opioid U-47700 and the benzodiazepine flubromazepam with lethal outcome: Pharmacokinetic data. Drug Test Anal, 2018; 10 (8): 1336-1341. : http://dx.doi.org/10.1002/dta.2391
- Kodra Y, Weinbach J, Posada-de-la-Paz M, Coi A, Lemonnier SL, van Enckevort D, Roos M, Jacobsen A, Cornet R, Ahmed SF, Bros-Facer V, Popa V, Van Meel M, Renault D, von Gizycki R, Santoro M, Landais P, Torreri P, Carta C, Mascalzoni D, Gainotti S, Lopez E, Ambrosini A, Muller H, Reis R, Bianchi F, Rubinstein YR, Lochmuller H, Taruscio D: Recommendations for Improving the Quality of Rare Disease Registries. Int J Env Res Pub He, 2018; 15 (8): 1644. : http://dx.doi.org/10.3390/ijerph15081644
- Koeks Z, Bladen CL, Salgado D, van Zwet E, Pogoryelova O, McMacken G, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Bellgard MI, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, Barisic N, Brabec P, Lahdetie J, Walter MC, Schreiber-Katz O, Karcagi V, Garami M, Herczegfalvi A, Viswanathan V, Bayat F, Buccella F, Ferlini A, Kimura E, van den Bergen JC, Rodrigues M, Roxburgh R, Lusakowska A, Kostera-Pruszczyk A, Santos R, Neagu E, Artemieva S, Rasic VM, Vojinovic D, Posada M, Bloetzer C, Klein A, Diaz-Manera J, Gallardo E, Karaduman AA, Oznur T, Topaloglu H, El Sherif R, Stringer A, Shatillo AV, Martin AS, Peay HL, Kirschner J, Flanigan KM, Straub V, Bushby K, Beroud C, Verschuuren JJ, Lochmuller H: Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. J Neuromuscul Dis, 2017; 4 (4): 293-306. : http://dx.doi.org/10.3233/JND-170280
- Koentges C, Konig A, Pfeil K, Holscher ME, Schnick T, Wende AR, Schrepper A, Cimolai MC, Kersting S, Hoffmann MM, Asal J, Osterholt M, Odening KE, Doenst T, Hein L, Abel ED, Bode C, Bugger H: Myocardial mitochondrial dysfunction in mice lacking adiponectin receptor 1. Basic Res Cardiol, 2015; 110 (4): 37-37. : http://dx.doi.org/10.1007/s00395-015-0495-4
- Koentges C, König A, Pfeil K, Holscher ME, Schnick T, Wende AR, Schrepper A, Cimolai MC, Kersting S, Hoffmann MM, Asal J, Osterholt M, Odening KE, Doenst T, Hein L, Abel ED, Bode C, Bugger H: Myocardial mitochondrial dysfunction in mice lacking adiponectin receptor 1. Basic Res Cardiol, 2015; 110 (4) (online): 37. : http://dx.doi.org/10.1007/s00395-015-0495-4
- Koentges C, Pfeil K, Schnick T, Wiese S, Dahlbock R, Cimolai MC, Meyer-Steenbuck M, Cenkerova K, Hoffmann MM, Jaeger C, Odening KE, Kammerer B, Hein L, Bode C, Bugger H: SIRT3 deficiency impairs mitochondrial and contractile function in the heart. Basic Res Cardiol, 2015; 110 (4): 36-36. : http://dx.doi.org/10.1007/s00395-015-0493-6
- Koentges C, Pfeil K, Schnick T, Wiese S, Dahlbock R, Cimolai MC, Meyer-Steenbuck M, Cenkerova K, Hoffmann MM, Jaeger C, Odening KE, Kammerer B, Hein L, Bode C, Bugger H: SIRT3 deficiency impairs mitochondrial and contractile function in the heart. Basic Res Cardiol, 2015; 110 (4): 36-36. : http://dx.doi.org/10.1007/s00395-015-0493-6
- Kohen A, Jakob A, Baasov T: Mechanistic studies of 3-deoxy-D-manno-2-octulosonate-8-phosphate synthase from Escherichia coli. Eur J Biochem, 1992; 208 (2): 443-449.
- Köhler B, Biebermann H, Friedsam V, Gellermann J, Maier RF, Pohl M, Wieacker P, Hiort O, Grüters A, Krude H: Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development. J Clin Endocr Metab, 2011; 96 (7): E1131-E1136.
- Kohler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yuksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gomez-Andres D, Lochmuller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN: Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res, 2018. : http://dx.doi.org/10.1093/nar/gky1105 (in Druck)
- Kohling S, Kalkhoff H, Schauerte P, Lehnert W, Diekmann L: 3-Hydroxy-2-methylglutaracidurie. Fallbeschreibung eines weiblichen türkischen Geschwisterpaares mit 3-Hydroxy-methylglutaryl-CoA-Lyase-Mangel. Klin Padiatr, 2000; 212 Suppl. 3: 113-116.
- Kohn M, Gutierrez-Rodriguez M, Jonkheijm P, Wetzel S, Wacker R, Schroeder H, Prinz H, Niemeyer CM, Breinbauer R, Szedlacsek SE, Waldmann H: A microarray strategy for mapping the substrate specificity of protein tyrosine phosphatase. Angew Chem Int Edit, 2007; 46 (40): 7700-7703. : http://dx.doi.org/10.1002/anie.200701601
- Kollek M, Voigt G, Molnar C, Murad F, Bertele D, Krombholz CF, Bohler S, Labi V, Schiller S, Kunze M, Geley S, Niemeyer CM, Garcia-Saez A, Erlacher M: Transient apoptosis inhibition in donor stem cells improves hematopoietic stem cell transplantation. J Exp Med, 2017; 214 (10): 2967-2983. : http://dx.doi.org/10.1084/jem.20161721
- Kollmannsberger C, Mross K, Jakob A, Kanz L, Bokemeyer C: Topotecan - A novel topoisomerase I inhibitor: pharmacology and clinical experience. Oncology-basel, 1999; 56 (1): 1-12.
- Kolter J, Feuerstein R, Spoeri E, Gharun K, Elling R, Trieu-Cuot P, Goldmann T, Waskow C, Chen ZJ, Kirschning CJ, Deshmukh SD, Henneke P: Streptococci Engage TLR13 on Myeloid Cells in a Site-Specific Fashion. J Immunol, 2016; 196 (6): 2733-2741. : http://dx.doi.org/10.4049/jimmunol.1501014
- Kolter J, Henneke P: Codevelopment of Microbiota and Innate Immunity and the Risk for Group B Streptococcal Disease. Front Immunol, 2017; 8 (online): 1497-1497. : http://dx.doi.org/10.3389/fimmu.2017.01497
- Komoda T, Lehmkuhl HB, Stiller B, Berger F, Hetzer R: Pediatric heart transplant candidates with failed donor heart allocation after Eurotransplant urgency listing profit from pretransplant mechanical circulatory support bridging. Artif Organs, 2009; 33 (4): 346-351. : http://dx.doi.org/10.1111/j.1525-1594.2009.00725.x
- Komorowski von G, Deichmann K, Korinthenberg R: Kachexie der oberen Körperhälfte bei einem adipösen Mädchen Monatsschr Kinderh, 2002; 3: 338-339.
- Kong F, Gidding HF, Berner R, Gilbert GL: Streptococcus agalactiae Cbeta protein gene (bac) sequence types, based on the repeated region of the cell wall-spanning domain: their relationship to virulence and a proposed standardized nomenclature. J Med Microbiol 2006;55:829-37 J Med Microbiol, 2006; 55: 829-837.
- Konig J, Kranz B, Konig S, Schlingmann KP, Titieni A, Tonshoff B, Habbig S, Pape L, Häffner K, Hansen M, Buscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M: Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephro, 2017; 12 (12): 1974-1983. : http://dx.doi.org/10.2215/CJN.01280217
- Konig J, Kranz B, Konig S, Schlingmann KP, Titieni A, Tonshoff B, Habbig S, Pape L, Haffner K, Hansen M, Buscher A, Bald M, Billing H, Schild R, Walden U, Hampel T, Staude H, Riedl M, Gretz N, Lablans M, Bergmann C, Hildebrandt F, Omran H, Konrad M: Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies. Clin J Am Soc Nephro, 2017; 12 (12): 1974-1983. : http://dx.doi.org/10.2215/CJN.01280217
- Konig J, Schreiber R, Voelcker T, Mall M, Kunzelmann K: The cystic fibrosis transmembrane conductance regulator (CFTR) inhibits ENaC through an increase in the intracellular Cl- concentration. Embo Rep, 2001; 2: 1047-1051.
- König SA, Siemes H, Bläker F, Boenigk E, Groß-Selbeck G, Hanefeld F, Haas N, Köhler B, Koelfen W, Korinthenberg R, Kurek E, Lenard HG, Penin H, Penzien JM, Schünke W, Schultze C, Stephani U, Stute M, Traus M, Weinmann HM: Severe hepatoxicity during valproate therapy: an update and report of eight new fatalities. Epilepsia, 1994; 35: 1005-1015.
- Konstantinidou A, Karadimas C, Waterham HR, Superti-Furga A, Kaminopetros P, Grigoriadou M, Kokotas H, Agrogiannis G Giannoulia-Karantana A Patsouris E, Petersen MB: Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia. Prenatal Diag, 2008; 28 (4): 309-312.
- Kontny HU, Hammerle K, Klein R, Shayan P, Mackall CL, Niemeyer CM: Sensitivity of Ewing's sarcoma to TRAIL-induced apoptosis. Cell Death Differ, 2001; 8: 506-514.
- Kontny HU, Hammerle K, Klein R, Shayan P, Mackall CL, Niemeyer CM: Sensitivity of Ewing's sarcoma to TRAIL-induced apoptosis. Cell Death Differ, 2001; 8 (5): 506-514. : http://dx.doi.org/10.1038/sj.cdd.4400836
- Kontny HU, Lehrnbecher TM, Chanock SJ, Mackall CL: Simultaneous expression of Fas and nonfunctional Fas ligand in Ewing's sarcoma. Cancer Res, 1998; 58 (24): 5842-5849.
- Kontny HU, Lehrnbecher TM, Chanock SJ, Mackall CM: Simultaneous expression of Fas and non-functional Fas ligand in Ewing's sarcoma. Cancer Res, 1998; 58: 5842-5849.
- Kontny HU, Sleasman JW, Kingma DW, Jaffe ES, Avila NA, Pizzo PA, Müller BU: Multilocular thymic cysts in children with human immunodeficiency virus infection.
Clinical and pathologic aspects. J Pediatr, 1997; 131: 264-270.
- Kontny HU, Sleasman JW, Kingma DW, Jaffe ES, Avila NA, Pizzo PA, Mueller BU: Multilocular thymic cysts in children with human immunodeficiency virus infection: clinical and pathologic aspects. J Pediatr, 1997; 131 (2): 264-270.
- Kontny U, Barrachina C, Habermehl P, Mannhardt W, Zepp F, Schofer O: Distribution of lymphocyte surface antigens in healthy neonates. Eur J Pediatr, 1994; 153 (4): 257-259.
- Kontny U, Boppana S, Jung A, Goebel H, Strahm B, Peters A, Dormann S, Werner M, Bader P, Fisch P, Niemeyer CM: Post-transplantation lymphoproliferative disorder of recipient origin in a boy with acute T-cell leukemia with detection of B-cell clonality 3 months before stem cell transplantation. Haematologia, 2005 (online).
- Kontny U, Gutjahr P, Schumacher R: Unusual pattern of gastric and hepatic infiltration in an infant with acute monocytic leukemia. Pediatr Radiol, 1995; 25 (1): 19-20.
- Kontny U, Hofling B, Gutjahr P, Voth D, Schwarz M, Schmitt HJ: CSF shunt infections in children. Infection, 1993; 21 (2): 89-92.
- Kontny U, Kurane I, Ennis FA: Gamma interferon augments Fc gamma receptor-mediated dengue virus infection of human monocytic cells. J Virol, 1988; 62 (11): 3928-3933.
- Kontny U, Oschlies I, Woessmann W, Burkhardt B, Lisfeld J, Salzburg J, Janda A, Attarbaschi A, Niggli F, Zimmermann M, Reiter A, Klapper W: Non-anaplastic peripheral T-cell lymphoma in children and adolescents-a retrospective analysis of the NHL-BFM study group. Brit J Haematol, 2015; 168 (6): 835-844. : http://dx.doi.org/10.1111/bjh.13216
- Kontny U, Walsh TJ, Rössler J, Uhl M, Niemeyer CM: Successful treatment of refractory chronic disseminated candidiasis after prolonged administration of caspofungin in a child with acute myeloid leukemia. Pediatric Blood & Cancer, 2006 (online). (in Druck)
- Kontny U, Walsh TJ, Rössler J, Uhl M, Niemeyer CM: Successful treatment of refractory chronic disseminated candidiasis after prolonged administration of caspofungin in a child with acute myeloid leukemia. Pediatr Blood Cancer, 2007; 49 (3): 360-362.
- Kooraki S, Grohmann J, Elshikh S, Urbach H, Meckel S: Covered stents for exclusion of iatrogenic common carotid artery-internal jugular vein fistula and brachiocephalic artery pseudoaneurysm. BMJ Case Rep, 2015; 2015. : http://dx.doi.org/10.1136/bcr-2015-011760
- Koppenhoefer B, Zhu X, Jakob A, Wuerthner S, Lin B: Separation of drug enantiomers by capillary electrophoresis in the presence of neutral cyclodextrins. J Chromatogr A, 2000; 875 (1-2): 135-161.
- Kopp M, Forster J, Storm van's Gravesande K, Seydewitz HH, Burow G, Brandis M, Kühr J: Therapie-Monitoring des Asthma bronchiale bei Kindern mittels EPX-Messung im Urin. Allergologie, 1996; 19: 316-319.
- Kopp M., J. Kühr, T. Frischer, W. Karmaus: Allergische Sensibilisierung in der ersten Lebensdekade. Deutsches Ärzteblatt, 1995; 92: 2246-2252.
- Kopp M.V., Ulmer C., Ihorst G., Seydewitz H.H., Frischer T., Forster J., Kuehr J.: Upper airway inflammation in children exposed to ambient ozone and potential signs of adaptation. European Respir. J., 1999; 14: 854-861.
- Kopp MV: Aktuelle Aspekte der primären Allergieprävention. Pädiatrische Allergologie, 2008; 11: 6-12.
- Kopp MV: Probiotika in der Prävention und Therapie von Atopien. Monatsschr Kinderh, 2008. (in Druck)
- Kopp MV, Bohnet W, Frischer T, Ulmer C, Studnicka M, Ihorst G, Gardner C, Forster J, Urbanek R, Kuehr J: Effects of ambient ozone on lung function in children over a two-summer period Eur Respir J, 2000; 16 (5): 893-900.
- Kopp MV, Brauburger J, Riedinger F, Beischer D, Ihorst G, Kamin W, Zielen S, Bez, Friedrichs F, Von Berg A, Gerhold K, Hamelmann E, Hultsch, Kuehr J: The effect of anti IgE treatment on in vitro leukotriene release in children with seasonal allergic rhinitis. J Allergy Clin Immun, 2002; 110: 728-735.
- Kopp MV, Friedrichs F,, Niggemann B: Spezifische Immuntherapie bei Kindern und Jugendlichen. Allergo Journal, 2008; 17: 228-232.
- Kopp MV, Goldstein M, Dietschek A, Sofke J, Heinzmann A, Urbanek R: Lactobacillus GG has in vitro effects on enhanced interleukin-10 and interferon-gamma release of mononuclear cells but no in vivo effects in supplemented mothers and their neonates. Clin Exp Allergy, 2008; 38 (4): 602-610. : http://dx.doi.org/10.1111/j.1365-2222.2007.02911.x
- Kopp MV, Hamelmann E, Seyfried S, Zielen S, Kamin W, Bergmann KC, Sieder C, Stenglein S, Wahn U: Combination of omalizumab and specific immunotherapy is superior to immunotherapy in patients with seasonal allergic rhinoconjunctivitis and co-morbid seasonal allergic asthma. Clin Exp Allergy, 2009; 39: 271-279. : http://dx.doi.org/10.1111/j.1365-2222.2008.03121.x
- Kopp MV, Hennemuth I, Heinzmann A, Urbanek R: Randomized, double-blind, placebo-controlled trial of probiotics for primary prevention: no clinical effects of Lactobacillus GG supplementation. Pediatrics, 2008; 121 (4): e850-e856. : http://dx.doi.org/10.1542/peds.2007-1492
- Kopp MV, Mayatepek E, Engels E, Brauburger J, Riedinger F, Ihorst G, Wahn U, Kuehr J: Urinary leukotriene E4 levels in children with allergic rhinitis treated with specific immunotherapy and anti-IgE (Omalizumab). Pediatr Allergy Immu, 2003; 14: 401-404.
- Kopp MV, Pichler J, Halmerbauer G, Kuehr J, Frischer T, Urbanek R, Szepfalusi Z: Culture conditions for the detection of allergen-specific T-cell reactivity in cord blood: influence of cell number. Pediatr Allergy Immu, 2000; 11 (1): 4-11.
- Kopp MV, Stenglein S, Kamin W, Friedrichs F, von Berg A, Zielen S, Hamelmann E, Wahn U, Kuehr J: Omalizumab (Xolair) in children with seasonal allergic rhinitis: leukotriene release as a potential in vitro parameter to monitor therapeutic effects. Pediatr Allergy Immu, 2007; 18 (6): 523-527.
- Kopp MV, Zehle C, Pichler J, Szepaflusi Z, Moseler M, Deichmann K, Forster J, Kuehr J: Allergen-specific T cells reactivity in cord blood: influence of maternal cytokine production Clin Exp Allergy, 2001; 31 (10): 1536-1443.
- Kopp MV, Semmler S, Ihorst G, Berner R, Forster J: Hospital admission with neonatal sepsis and development of atopic disease: Is there a link? Pediatr Allergy Immu, 2005; 16 (8): 630-636.
- Koptides M, Mean R, Stavrou C, Pierides A, Demetrious K, Nakayama T, Hildebrandt F, Fuchshuber A, Constantinou D: Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1 Mol Cell Probe, 2001; 15: 357-361.
- Körbl K, Jacobs-Le Van J, Herbst M, Zaitsev M, Schulze-Bonhage A, Hennig J, Le Van P: Marker-based ballistocardiographic artifact correction improves spike identification in EEG-fMRI of focal epilepsy patients. Clin Neurophysiol, 2016; 127 (8): 2802-2811.
- Korinthenberg R: Die Behandlung des akuten Buillain Barré Syndroms im Kindesalter mit hoch dosierten intravenösen 7S-Immmunglobulinen. Die Gelben Hefte, 1994; Jg XXXIV, Heft 4: 159-164.
- Korinthenberg R: Is infantile alternating hemiplegia mediated by glutamate toxicity and can it be treated with memantine? Neuropediatrics, 1996; 27: 277-278.
- Korinthenberg R: Abstracts of the 42nd Congress of the german society of clinical Neurophysiology and the 44th congress of the austrian society of clinical neurophysiology Electroencephalography and clinical Neurophysiologie, 1997; 106: 36P-60P.
- Korinthenberg R: Fundoskopie oder Computertomographie vor Lumbalpunktion? Monatsschr Kinderh, 2004; 4: 3-4.
- Korinthenberg R: Epilepsien mit primär generalisierten tonisch-klonischen Anfällen bei Jugendlichen und Erwachsenen Zeitschrift für Epileptologie, 2005; 18: 7-14.
- Korinthenberg R: Aktuelles zu den spinalen Muskelatrophien Nervenheilkunde, 2006; 25: 237-243.
- Korinthenberg R: Therapie der akuten und chronischen Polyradikuloneuritis Pädiatrische Praxis, 2006; 68: 557-568.
- Korinthenberg R: Topiramate in Children with West Syndrome: A retrospective multicenter evaluation of 100 patients J Child Neurol, 2007; 22 (3): 302-306.
- Korinthenberg R: Verdachtsdiagnose Guillain-Barré-Syndrom pädiat prax, 2011; 77: 597-598.
- Korinthenberg R: Erworbene neuromuskuläre Erkrankungen Pädiatrie up2date, 2012; 7 (4): 343-365. : http://10.1055/s-0032-1325876
- Korinthenberg R: Handlungsempfehlung nach der Leitlinie "Guillain-Barré Syndrom im Kindes- und Jugendalter" Monatsschr Kinderh, 2013; 12: 1201-1202.
- Korinthenberg R: A new era in the management of Duchenne muscular dystrophy. Dev Med Child Neurol, 2018. : http://dx.doi.org/10.1111/dmcn.14129 (in Druck)
- Korinthenberg R, Bauer-Scheid C, Burkart P, Martens-Le Bouar H, Kassubek J, Juengling F-D: FDG-PET in epilepsies of infantile onset with pharmacoresistant generalised tonic-clonic seizures Epilepsy Res, 2004; 60: 53-61.
- Korinthenberg R, Bonnaire B, Niemeyer C, Sauer M, van Velthoven V, Warnke P: Differenzierte Therapie von Hirntumoren bei Kindern und Jugendlichen. Pädiatr Praxis, 2000; 57: 565-574.
- Korinthenberg R, Bonnaire B, Niemeyer C, Sauer M, Velthoven van V, Warnke P: Differenzierte Therapie von Hirntumoren bei Kindern und Jugendlichen Pädiat. Praxis, 2000; 57: 565-574.
- Korinthenberg R, Burkart P, Woelfle C, Schulte Moenting J, Ernst JP: Pharmacology, Efficacy and Tolerability of Potassium Bromide in Childhood Epilepsy J Child Neurol, 2007; 22 (4): 414-418.
- Korinthenberg R, Haug Ch, Hannak D: The metabolization of Carbamazepin to CBZ-10, 11-Epoxide in children from the newborn age to adolescence. Neuropediatrics, 1994; 25: 214-216.
- Korinthenberg R, Ketelsen U-P, Graf M, Stoll G, Hanemann U: Congenital axonal neuropathy with fatal outcome in three siblings. Aktuelle Neurol. (Suppl.1995), 1995; 22: 16.
- Korinthenberg R, Kobes Ch: Myometrie im Kindesalter - Praktikabilität und Normwerte. Akt Neurol, 1995; 22: 16.
- Korinthenberg R, Neuburger D, Nikkhah G, Teske C, Schnabel K, Calaminus G: Assessing Quality of Life in Long-Term Survivors after Brachytherapy for Low-Grade Glioma in Childhood Neuropediatrics, 2011; 42: 110-115.
- Korinthenberg R, Neuburger D, Trippel M, Ostertag C, Nikkhah G: Long-Term Results of Brachytherapy with Temporary Iodine-125 Seeds in Children with Low-Grade Gliomas. Int J Radiat Oncol, 2011; 79 (4): 1131-1138. : http://dx.doi.org/10.1016/j.ijrobp.2009.12.040
- Korinthenberg R, Säger J, Zimmerhackl LB: Increased urinary excretion of tubular enzymes and proteins in children with epilepsy European Paediatric Neurology Society, 2000; 4: 263-267.
- Korinthenberg R, Sauer M, Ketelsen UP, Hanemann CO, Stoll G: Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region Ann. Neurol., 1997; 42: 364-368.
- Korinthenberg R, Schessl J, Kirschner J: Clinical Presentation and Course of Childhood Guillain-Barré-Syndrome: A Prospective Multicentre Study Neuropediatrics, 2007; 38: 10-17.
- Korinthenberg R, Schessl J, Kirschner J, Schulte-Mönting J: Intravenously Admnistered Immunoglobulin in the Treatment of Childhood Guillain-Barré-Syndrome: A Randomized Trial Pediatrics, 2005; 116: 8-14.
- Korinthenberg R, Scheuring B, Boos J, Niemeyer C: On the origin of EEG-slowing and encephalopathy during induction treatment of acute lymphoblastic leukemia. Med Pediatr Oncol, 2002; 39 (6): 566-572.
- Korinthenberg R, Scheuring B, Boos J, Niemeyer C: On the origin of EEG-slowing and encephalopathy during induction treatment of acute lymphoblastic leukemia Med Pediatr Oncol, 2002; 39: 566-572.
- Korinthenberg R, Schneider A, Niemeyer C: Central Nervous System Prophylaxis with High-Dose Methotrexate Does Not Give Rise to Significant Electroencephalographic Changes in Children with Acute Lymphoblastic Leukemia J Child Neurol, 2002; 17: 409-412.
- Korinthenberg R, Schneider A, Niemeyer C: Central nervous system prophylaxis with high-dose methotrexate does not give rise to significant electroencephalographic changes in children with acute lymphoblastic leukemia. J Child Neurol, 2002; 17 (6): 409-412.
- Korinthenberg R, Schreck J, Weser J, Lehmkuhl G: Post-traumatic syndrome after minor head injury cannot be predicted by neurological investigations Brain Dev-jpn, 2004; 26: 113-117.
- Korinthenberg R, Schulte-Mönting J: Natural history and treatment effects in Guillain-Barre-syndrome: a multicentre study Arch. Dis. Child., 1996; 74: 281-287.
- Korinthenberg R, Wehrle L, Zimmerhackl LB: Renal tubular dysfunktion following treatment with anti-epileptic drugs. Eur. J. Pediatr., 1994; 153: 855-858.
- KORINTHENBERG R: Intravenous Immunoglobulin treatment in children with Guillain-Barré-Syndrom. European Journal of Pediatric Neurology, 1998; 1: 57-59.
- KORINTHENBERG R: Chronic inflammatory demyelinating polyradiculoneuropathy in children and their response to treatment Neuropediatrics, 1999; 30: 190-196.
- KORINTHENBERG R: Das Guillain-Barré-Syndrom und seine Varianten im Kindesalter Nervenheilkunde, 1999; 18: 276-281.
- KORINTHENBERG R: Therapeutische Möglichkeiten bei neuromuskulären Erkrankungen Monatsschrift für Kinderheilkunde, 1999; 3: 298-308.
- KORINTHENBERG R, DIMOVA P: Efficacy of Lamotrigine and Vigabatrin in Drug-Resistant Epilepsies of Childhood Pediactric Neurology, 1999; Vol. 21, No. 5: 802-807.
- Koster KL, Sturm M, Herebian D, Smits SH, Spiekerkoetter U: Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. J Inherit Metab Dis, 2014; 37 (6): 917-928. : http://dx.doi.org/10.1007/s10545-014-9732-5
- Kottgen M, Loffler T, Jacobi C, Nitschke R, Pavenstadt H, Schreiber R, Frische S, Nielsen S, Leipziger J: P2Y6 receptor mediates colonic NaCl secretion via differential activation of cAMP-mediated transport. J Clin Invest, 2003; 111 (3): 371-379.
- Kottlors M, Jaksch M, Ketelsen U, Weiner S, Glocker FX, Lücking CH: Valproic acid triggers acute rhabdomyolysis in a patient with carnitine palmitoyltransferase type II deficiency Neuromuscular Disord, 2001; 11: 757-759.
- Kottlors M, Kirschner J: Elevated satellite cell number in Duchenne muscular dystrophy Cell Tissue Res, 2010; 340: 541-548.
- Kottlors M, Moske-Eick O, Huebner A, Krause S, Mueller K, Kress W, Schwarzwald R, Bornemann A, Haug V, Heitzer M, Kirschner J: Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. J Neurol Sci, 2010; 291 (1-2): 79-85. : http://dx.doi.org/10.1016/j.jns.2009.12.008
- Kottlors M, Mueller K, Kirschner J, Glocker FX: Muscle hypertrophy of the
lower leg caused by L5 radiculopathy Joint Bone Spine, 2009; 76 (5): 562-564.
- Kovar H, Alonso J, Aman P, Aryee DN, Ban J, Burchill SA, Burdach S, De Alava E, Delattre O, Dirksen U, Fourtouna A, Fulda S, Helman LJ, Herrero-Martin D, Hogendoorn PC, Kontny U, Lawlor ER, Lessnick SL, Llombart-Bosch A, Metzler M, Moriggl R, Niedan S, Potratz J, Redini F, Richter GH, Riedmann LT, Rossig C, Schafer BW, Schwentner R, Scotlandi K, Sorensen PH, Staege MS, Tirode F, Toretsky J, Ventura S, Eggert A, Ladenstein R: The first European interdisciplinary ewing sarcoma research summit. Front Oncol, 2012; 2: 54/1-54/10. : http://dx.doi.org/10.3389/fonc.2012.00054
- Koy A, Weinsheimer M, Pauls KA, Kuhn AA, Krause P, Huebl J, Schneider GH, Deuschl G, Erasmi R, Falk D, Krauss JK, Lutjens G, Schnitzler A, Wojtecki L, Vesper J, Korinthenberg R, Coenen VA, Visser-Vandewalle V, Hellmich M, Timmermann L: German registry of paediatric deep brain stimulation in patients with childhood-onset dystonia (GEPESTIM). Eur J Paediatr Neuro, 2017; 21 (1): 136-146. : http://dx.doi.org/10.1016/j.ejpn.2016.05.023
- Kranendijk M, Salomons GS, Gibson KM, Aktuglu-Zeybek C, Bekri S, Christensen E, Clarke J, Hahn A, Korman SH, Mejaski-Bosnjak V, Superti-Furga A, Vianey-Saban C, van der Knaap MS, Jakobs C, Struys EA: Development and implementation of a novel assay for L: -2-hydroxyglutarate dehydrogenase (L: -2-HGDH) in cell lysates: L: -2-HGDH deficiency in 15 patients with L: -2-hydroxyglutaric aciduria. J Inherit Metab Dis, 2009; 32 (6): 713-719. : http://dx.doi.org/10.1007/s10545-009-1282-x
- Kratz, CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Starý J, Trebo M, Zecca M, Geld BD, Tartaglia M, Loh ML: The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and noonan syndrome/myeloproliferative disease Blood, 2005 (online). (in Druck)
- Kratz C, Abd El-Monheim A, Manke E, Rister M, Rogge T, Niemeyer C: Retrospektive Analyse des klinischen Verlaufs bei 12 Kindern mit der Verdachtsdiagnose einer essenziellen Thrombozythämie Klin Padiatr, 2004; 216: 349-355.
- Kratz C, Rogge T, Kopp M, Bauman I, Niemeyer C: Myelodysplatic features in an infant with cystic fibrosis presenting with anameia oedema and failure to thrive Eur J Pediatr, 2004; 164: 56-57.
- Kratz CP, Abd El-Monheim A, Manke EM, Rister M, Rogge T, Niemeyer CM: [Retrospective analysis of the clinical course of 12 children given the diagnosis essential thrombocythemia]. Klin Padiatr, 2004; 216 (6): 349-355. : http://dx.doi.org/10.1055/s-2004-832356
- Kratz CP, Boll S, Kontny U, Schrappe M, Niemeyer CM, Stanulla M: Mutational screen reveals a novel JAK2 mutation, L611S, in a child with acute lymphoblastic leukemia. Leukemia, 2006; 20 (2): 381-383. : http://dx.doi.org/10.1038/sj.leu.2404060
- Kratz CP, Holter S, Etzler J, Lauten M, Pollett A, Niemeyer CM, Gallinger S, Wimmer K: Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J Med Genet, 2009; 46 (6): 418-420. : http://dx.doi.org/10.1136/jmg.2008.064212
- Kratz CP, Nathrath M, Freisinger P, Dressel P, Assmuss HP, Klein C, Yoshimi A, Burdach S, Niemeyer CM: Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation. Eur J Pediatr, 2006; 165 (3): 182-185. : http://dx.doi.org/10.1007/s00431-005-0031-x
- Kratz CP, Niemeyer CM: Juvenile myelomonocytic leukemia. Hematology, 2005; 10 Suppl 1: 100-103. : http://dx.doi.org/10.1080/10245330512331390078
- Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergstrasser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML: The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood, 2005; 106 (6): 2183-2185. : http://dx.doi.org/10.1182/blood-2005-02-0531
- Kratz CP, Niemeyer CM, Jüttner E, Kartal M, Weninger A, Schmitt-Graef A, Kontny U, Lauten M, Utzolino S, Rädecke J, Fonatsch C, Wimmer K: Childhood T-cell non-Hodgkin lymphoma, colorectal carcinoma, and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation. Leukemia, 2008; 22 (5): 1078-1080.
- Kratz CP, Niemeyer CM, Karow A, Volz-Fleckenstein M, Schmitt-Graff A, Strahm B: Congenital transfusion-dependent anemia and thrombocytopenia with myelodysplasia due to a recurrent GATA1(G208R) germline mutation. Leukemia, 2008; 22 (2): 432-434. : http://dx.doi.org/10.1038/sj.leu.2404904
- Kratz CP, Niemeyer CM, Thomas C, Bauhuber S, Matejas V, Bergstrasser E, Flotho C, Flores NJ, Haas O, Hasle H, van den Heuvel-Eibrink MM, Kucherlapati RS, Lang P, Roberts AE, Stary J, Strahm B, Swanson KD, Trebo M, Zecca M, Neel B, Locatelli F, Loh ML, Zenker M: Mutation analysis of Son of Sevenless in juvenile myelomonocytic leukemia. Leukemia, 2007; 21 (5): 1108-1109. : http://dx.doi.org/10.1038/sj.leu.2404620
- Kratz CP, Niemeyer CM, Zenker M: An unexpected new role of mutant Ras: perturbation of human embryonic development. J Mol Med-jmm, 2007; 85 (3): 227-235. : http://dx.doi.org/10.1007/s00109-006-0135-4
- Kratz CP, Rogge T, Kopp M, Baumann I, Niemeyer CM: Myelodysplastic features in an infant with cystic fibrosis presenting with anaemia, oedema and failure to thrive. Eur J Pediatr, 2005; 164 (1): 56-57. : http://dx.doi.org/10.1007/s00431-004-1548-0
- Kratz CP, Schubbert S, Bollag G, Niemeyer CM, Shannon KM, Zenker M: Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle, 2006; 5 (15): 1607-1611.
- Kratz CP, Steinemann D, Niemeyer CM, Schlegelberger B, Koscielniak E, Kontny U, Zenker M: Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: Lessons from Costello syndrome. Hum Mol Genet, 2007; 16 (4): 374-379.
- Kratz CP, Zampino G, Kriek M, Kant SG, Leoni C, Pantaleoni F, Oudesluys-Murphy AM, di Rocco C, Kloska SP, Tartaglia M, Zenker M: Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. Am J Med Genet A, 2009; 149 (A): 1036-1040.
- Krause F, Hoehn T: Partial transsection of the neonatal trachea. Resuscitation, 1998; 38: 43-46.
- Krause M, Engelhardt B: Anastomosis of the umbilical arteries: physiologic variant or complication of umbilical catheterization? Pediatr. Radiol., 1997; 27: 618-619.
- Krause M, Höhn T: enhancement of surfactant effect by a mechanical volume recruitment maneuver depends on the lungs preexisting distension. Biol. Neonate, 1998; 73: 320-329.
- Krause M, Lienhart H-G, Haberstroh J, Höhn T, Schulte-Mönting J, Leititis JU: Effect of inhaled nitric oxide in two rabbit models of saline lavage induced surfactant deficiency and meconium instillation. Eur. J. Pediatr., 1998; 157: 410-415.
- Krause M, Olsson T, Law AB, Parker RA, Lindstrom DP, Sundell HW, Cotton RB: Effect of Volume Recruitment on Response to Surfactant Treatment in Rabbits with Lung Injury. Crit. Care Med., 1998; 156: 862-866.
- Krause M, Schulte-Mönting J, Höhn T: Rate of surfactant administration influences lung function and gas exchange in a surfactant-deficient rabbit model. Pediatr Pulmonol, 1998; 25: 196-204.
- Krause M., Hoehn T.: Effizienz und Risiken der Atemphysiotherapie beim Neugeborenen. Klin. Pädiatr., 1999; 211: 11-17.
- Krause M.F., Hoehn T.: Decrease in lung volume depends on end-expiratory pressure in a rabbit model of airway lavage. Respiration, 1999; 66: 259-264.
- Krause MF, Hoehn T: Timing of surfactant administration determines its physiologic response in a rabbit model of airway lavage. Biol Neonate, 2000; 77 (3): 196-202.
- Krause MF, Jakel C, Haberstroh J, Schulte-Monting J, Leititis JU, Orlowska-Volk M: Alveolar recruitment promotes homogeneous surfactant distribution in a piglet model of lung injury. Pediatr Res, 2001; 50: 34-43.
- Krause MF, Orlowska-Volk M, Hendrik ER, Gommers D, Lachmann B: A new simple method of staining exogenous surfactant in experimental research. Eur Respir J, 2000; 15 (5): 949-954.
- Kraus H, Kaiser S, Aumann K, Bonelt P, Salzer U, Vestweber D, Erlacher M, Kunze M, Burger M, Pieper K, Sic H, Rolink A, Eibel H, Rizzi M: A feeder-free differentiation system identifies autonomously proliferating B cell precursors in human bone marrow. J Immunol, 2014; 192 (3): 1044-1054. : http://dx.doi.org/10.4049/jimmunol.1301815
- Kraus JP, Spector E, Venezia S, Estes P, Chiang PW, Creadon-Swindell G, Mullerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer OA, Baumgartner MR, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann JB, Steinfeld R, Beblo S, Koch HG, Konstantopoulou V, Scholl-Burgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab KO, Grünert SC, Sass JO: Mutation analysis in 54 propionic acidemia patients. J Inherit Metab Dis, 2012; 35 (1): 51-63. : http://dx.doi.org/10.1007/s10545-011-9399-0
- Krebs,A, Aslanidis C, März W, Krebs K, Doerfer J, Greiner P, Schmitt-Gräff A,, Superti-Furga A, Schmitz G, und Schwab KO: Hepato(spleno)megalie und Hypercholesterinämie. Leitsymptome einer Cholesterinester-Speicherkrankheit. Pädiatrische praxis, 2010; 75: 601-611.
- Krebs A, Clement HW, Zimmerer J, Schulz E, Doerfer J, Wurm M, Brichta C, van der Werf-Grohmann N, Schwab KO: Transfer of Topical Testosterone to Subcutaneous Microdialysate, Blood and Saliva in Healthy Young Men. Exp Clin Endocr Diab, 2018. : http://dx.doi.org/10.1055/a-0650-4115 (in Druck)
- Krebs A, Doerfer J, Grunert SC, Wohrl J, Stier B, Schmidt-Trucksass A, Lichte K, Winkler K, Grulich-Henn J, Holder M, Schwab KO: Decreased levels of homoarginine and asymmetric dimethylarginine in children with type 1 diabetes: associations with cardiovascular risk factors but no effect by atorvastin. J Pediatr Endocr Met, 2015; 28 (1-2): 147-152. : http://dx.doi.org/10.1515/jpem-2014-0083
- Krebs A, Doerfer J, Grünert SC, Wohrl J, Stier B, Schmidt-Trucksass A, Lichte K, Winkler K, Grulich-Henn J, Holder M, Schwab KO: Decreased levels of homoarginine and asymmetric dimethylarginine in children with type 1 diabetes: associations with cardiovascular risk factors but no effect by atorvastin. J Pediatr Endocr Met, 2014; 28 (1): 147-152. : http://dx.doi.org/10.1515/jpem-2014-0083
- Krebs A, Doerfer J, Krause A, Grulich-Henn J, Holder M, Hecker W, Lichte K, Schmidt-Trucksaess A, Winkler K, Schwab KO: Lipoprotein-associated phospholipase A2 activity and low-density lipoprotein subfractions after a 2-year treatment with atorvastatin in adolescents with type 1 diabetes. J Pediatr Endocr Met, 2016; 29 (10): 1181-1186. : http://dx.doi.org/10.1515/jpem-2015-0365
- Krebs A, Kratzin T, Doerfer J, Winkler K, Wurm M, von der Werf-Grohmann N, Krause A, Schwab KO: Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status. J Pediatr Endocr Met, 2016; 29 (2): 203-208. : http://dx.doi.org/10.1515/jpem-2015-0148
- Krebs A, Krebs K, Keller F: Retrospective comparison of 5 different methods for long-term LDL-apheresis in 20 patients between 1986 and 2001. Int J Artif Organs, 2004; 27 (2): 137-148.
- Krebs A, Schmidt-Trucksäss A, Doerfer J, Grulich-Henn J, Holder M, Hecker W, Krebs K, Barth M, Schwab KO: Cardiovascular risk in pediatric type 1 diabetes: sex-specific intima-media thickening verified by automatic contour identification and analyzing systems.
Pediatr Diabetes, 2012; 13 (3): 251-258. : http://dx.doi.org/10.1111/j.1399-5448.2011.00814.x
- Krebs A,, Aslanidis C, März W, Krebs K, Doerfer J, Greiner P, Schmitt-Gräff A, Superti-Furga A, Schmitz G,, Schwab KO: Hepato(spleno)megalie und Hypercholesterinämie – Leitsymptome der Cholesterinester-Speicherkrankheit Pädiatrische praxis, 2009. (in Druck)
- Krebs A,, Moske-Eick O, Doerfer J,, Roemer-Pergher C, van der Werf-Grohmann N,, Schwab KO: Marked increase of final height by long-term aromatase inhibition in a boy with idiopathic short stature. J Pediatr Endocr Met, 2012; 25 (5-6): 581-585.
- Krebs A,, Schmidt-Trucksäss A, Alt J, Doerfer J, Krebs K, Winkler K, Schwab KO: Synergistic Effects of Elevated Systolic Blood Pressure and Hypercholesterolemia on Carotid Intima-Media Thickness in Children and Adolescents Pediatr Cardiol, 2009; 30 (8): 1131-1136.
- Krebs A, Hoffmann M, Krebs K, Kratzin T, Doerfer J, Schwab KO: Hypertriglyzeridämie infolge eines familiären Mangels an Lipoproteinlipase. Pädiatrische Praxis, 2005; 67: 481-487.
- Krebs A, Schmidt-Trucksass A, Wagner J, Krebs K, Doerfer J, Schwab KO: Adult-like but regressive increase of intima-media thickness and roughness in a child with type 1 diabetes. Pediatric Diabetes, 2005; 6 (3): 161-164.
- Krebs K, Doerfer J, Krebs A, Superti-Furga A, Schwab KO: Primäre Hypertriglyzeridämien im Kindes- und Jugendalter – Diagnostik, klinische Bedeutung und atherogenes Langzeitrisiko. Pädiatrische Praxis, 2008; 71: 229-241.
- Krebs K, Doerfer J, Krebs A, Superti-Furga A, Schwab KO: Primäre Hypertriglyzeridämien im Kindes- und Jugendalter – Diagnostik, klinische Bedeutung und atherogenes Langzeitrisiko Pädiatrische Praxis, 2007; 71: 229-241.
- Kreibich M, Siepe M, Grohmann J, Pache G, Beyersdorf F: Aneurysms of the azygos vein. J Vasc Surg-venous L, 2017; 5 (4): 576-586. : http://dx.doi.org/10.1016/j.jvsv.2016.12.012
- Krell PF, Reuther S, Fischer U, Keller T, Weber S, Gombert M, Schuster FR, Asang C, Stepensky P, Strahm B, Meisel R, Stoye J, Borkhardt A: Next-generation-sequencing-spectratyping reveals public T-cell receptor repertoires in pediatric very severe aplastic anemia and identifies a beta chain CDR3 sequence associated with hepatitis-induced pathogenesis. Haematol-hematol J, 2013; 98 (9): 1388-1396. : http://dx.doi.org/10.3324/haematol.2012.069708
- Kremens B, Gruhn B, Klingebiel T, Hasan C, Laws HJ, Koscielniak E, Hero B, Selle B, Niemeyer C, Finckenstein FG, Schulz A, Wawer A, Zintl F, Graf N: High-dose chemotherapy with autologous stem cell rescue in children with nephroblastoma. Bone Marrow Transpl, 2002; 30 (12): 893-898.
- Kremens B, Gruhn B, Klingebiel T, Hasan C, Laws HJ, Koscielniak E, Hero B, Selle B, Niemeyer C, Finkenstein FG, Schulz A, Wawer A, Zintl F, Graf N: High-dose chemotherapy with autologous stem cell rescue in children with nephroblastoma. Bone Marrow Transpl, 2003; 31 (12): 1185-1185.
- Kremens B, Hero B, Esser J, Weinel P, Filger-Brillinger J, Fleischhack G, Graf N, Gruttner HP, Niemeyer C, Schulz A, Wickmann L, Berthold F: Ocular symptoms in children treated with human-mouse chimeric anti-GD2 mAb ch14.18 for neuroblastoma. Cancer Immunol Immun, 2002; 51 (2): 107-110.
- Kreuzer M, Prufe J, Oldhafer M, Bethe D, Dierks ML, Muther S, Thumfart J, Hoppe B, Buscher A, Rascher W, Hansen M, Pohl M, Kemper MJ, Drube J, Rieger S, John U, Taylan C, Dittrich K, Hollenbach S, Klaus G, Fehrenbach H, Kranz B, Montoya C, Lange-Sperandio B, Ruckenbrodt B, Billing H, Staude H, Heindl-Rusai K, Brunkhorst R, Pape L: Transitional Care and Adherence of Adolescents and Young Adults After Kidney Transplantation in Germany and Austria: A Binational Observatory Census Within the TRANSNephro Trial. Medicine, 2015; 94 (48) (online): e2196-e2196. : http://dx.doi.org/10.1097/MD.0000000000002196
- Kreyenberg H, Jarisch A, Bayer C, Schuster B, Willasch A, Strahm B, Kremens B, Gruhn B, Schrauder A, Burdach S, Führer M, Rossig C, Kabisch H, Schlegel PG, Stachel D, Beck JF, Mauz-Koerholz C, Chung TL, Holler E, Klingebiel T, Bader P: NOD2/CARD15 gene polymorphisms affect outcome in pediatric allogeneic stem cell transplantation. Blood, 2011; 118 (4): 1181-1184.
- Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Haussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schoneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J: SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain, 2013; 136 (12): 3634-3644. : http://dx.doi.org/10.1093/brain/awt283
- Krippeit L,, Belzer F, Martens-Le Bouar H, Mall V,, Barth M.: Communicating psychosocial problems in German well-child visits. What facilitates, what impedes pediatric exploration? A qualitative study. Patient Educ Couns, 2014; 97 (2): 188-194. : http://doi: 10.1016/j.pec.2014.07.032
- Kristiansen G, Rose M, Geisler C, Fritzsche FR, Gerhardt J, Lüke C, Ladhoff AM, Knüchel R, Dietel M, Moch H, Varga Z, Theurillat JP, Gorr TA, Dahl E: Edogenous myoglobin in human breast cancer is a hallmark of luminal cancer phenotype. Brit J Cancer, 2010; 102 (12): 1736-1745.
- Kroiss S, Huck K, Berthold S, Ruschendorf F, Scolari F, Caridi G, Ghiggeri GM, Hildebrandt F, Fuchshuber A: Evidence of further genetic heterogeneity in autosomal dominant medullary Nephrol Dial Transpl, 2000; 15 (6): 818-821. : http://ndt.oupjournals.org/cgi/content/abstract/15/6/818
- Krombholz CF, Aumann K, Kollek M, Bertele D, Fluhr S, Kunze M, Niemeyer CM, Flotho C, Erlacher M: Long-term serial xenotransplantation of juvenile myelomonocytic leukemia recapitulates human disease in Rag2-/-gammac-/- mice. Haematologica, 2016; 101 (5): 597-606. : http://dx.doi.org/10.3324/haematol.2015.138545
- Krombholz CF, Gallego-Villar L, Sahoo SS, Panda PK, Wlodarski MW, Aumann K, Hartmann M, Lipka DB, Daskalakis M, Plass C, Niemeyer CM, Erlacher M, Flotho C: Azacitidine is effective for targeting leukemia-initiating cells in juvenile myelomonocytic leukemia. Leukemia, 2019; 33 (7): 1805-1810. : http://dx.doi.org/10.1038/s41375-018-0343-2
- Kroos M.A., Kirschner J, Gellerich F.N., Hermans M, Van der Ploeg A, Reusser A, Korinthenberg R: A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn Neuromuscular Disord, 2004; 14: 371-374.
- Kropec A,, Hufnagel M,, Zimmermann K,, Huebner J: In vitro assessment of the host response against Enterococcus faecalis in probiotic preparations. Infection, 2005; 33 (5-6): 377-379.
- Krueger K, Schmutz A, Zieger B, Kalbhenn J: Venovenous Extracorporeal Membrane Oxygenation With Prophylactic Subcutaneous Anticoagulation Only: An Observational Study in More Than 60 Patients. Artif Organs, 2017; 41 (2): 186-192. : http://dx.doi.org/10.1111/aor.12737
- Krueger M, Heinzmann A, Mailaparambil B, Hartel C, Gopel W: Polymorphisms of interleukin 18 in the genetics of preterm birth and bronchopulmonary dysplasia. Arch Dis Child-fetal, 2010. : http://dx.doi.org/10.1136/adc.2009.174862 (in Druck)
- Krueger M, Nauck MS, Sang S, Hentschel R, Wieland H, Berner R: Cord blood levels of interleukin-6 and interleukin-8 for the immediate diagnosis of early-onset
infection in premature infants Biol Neonate, 2001; 80 (2): 118-123.
- Krueger M, Pohl M, Zimmerhackl LBZ, Hentschel R, Berner R, Brandis M: Single plasma exchange in 6 pediatric patients with severe sepsis. Pediatr Infect Dis J, 2006; 2: 111-114.
- Krueger M, Puthothu B, Gropp E, Heinze J, Braun S, Heinzmann A: Functional amino acid variants in Surfactant D protein are not associated with bronchial asthma. Pediatr Allergy Immu, 2005; 17 (1): 77-81.
- Krueger M, Puthothu B, Gropp E, Heinze J, Braun S, Heinzmann A: Amino acid variants in Surfactant protein D are not associated with bronchial asthma. Pediatr Allergy Immu, 2006; 17 (1): 77-81.
- Krueger M, Puthothu B, Heinze J, Forster J, Heinzmann A: Genetic polymorphisms of adhesion molecules in children with severe RSV-associated diseases. Int J Immunogenet, 2006; 33 (4): 233-235.
- Krueger M, Ramsauer T, Dittrich S, Uhl M: Gastric pneumatosis in a neonate with hypoplastic left heart syndrome. Pediatr Radiol, 2006; 36 (6): 571-571.
- Krueger M, Ramsauer T, Dittrich S, Uhl M.: Gastric pneumatosis in a neonate with hypoplastic left heart syndrome. Pediatr Radiol, 2006; 36 (6): 571.
- Krueger M, Woenckhaus J, Berner R, Hentschel R, Brandis M: Miliartuberkulose und ARDS bei einem Säugling. Klin. Päd., 1998; 210: 425-427.
- Krueger M,, Heinzmann A,, Nauck M.: Adhesion molecules in pediatric intensive care patients with organ dysfunction syndrome. Intens Care Med, 2006 (online).
- Krueger M,, Heinzmann A, Mailaparambil B, Härtel C, Göpel W.: Polymorphisms of interleukin 18 in the genetics of preterm birth and bronchopulmonary dysplasia. Arch Dis Child-fetal, 2011; 96 (4): F299-300. : http://doi:10.1136/adc.2009.174862
- Krueger M,, Pohl M,, Hentschel R,, Berner R,, Brandis M: Single plasma exchange in 6 pediatric patients with severe septic shock. Journal of pediatric infectious diseases, 2006; 1: 111-114.
- Krueger M, Heinzmann A, Nauck MS: Adhesion molecules in pediatric intensive care patients with organ dysfunction syndrome. Intens Care Med, 2007; 33: 359-363.
- Krueger Marcus, Fluegge Kirsten, Krause Martin, Berner Reinhard: Fatal haemophilus influenzae type b (Hib) sepsis in a 10-month-old infant despite comlete vaccination and adequate Hib antibodies Eur J Pediatr, 2004; 163: 412-413.
- Kruetzmann S, Rosado MM, Weber H, Germing U, Tournilac O, Peter HH, Berner R, Peters A, Boehm T, Plebani A, Quinti I, Carsetti R: Human IgM memory B cells controlling Streptococcus pneumoniae infections are generated in the spleen J Exp Med, 2003; 197: 939-945.
- Kruger A*, Oldenburg M*, Chebrolu C*, Beisser D, Kolter J, Sigmund AM, Steinmann J, Schafer S, Hochrein H, Rahmann S, Wagner H, Henneke P, Hornung V, Buer J, Kirschning CJ: Human TLR8 senses UR/URR motifs in bacterial and mitochondrial RNA. Embo Rep, 2015; 16 (12): 1656-1663. : http://dx.doi.org/10.15252/embr.201540861
- Krüger M, Gildein P, Mocellin R, Sutor AH: Eröffnung von Verschlüssen der Arteria femoralis nach Herzkatheterisierung. Hämostaseologie, 1996; 16: 239-241.
- Krüger M, Gordjani N, Burhard R: Postexercice albuminuria in children with different duration of Type 1 diabetes mellitus. Pediatr. Nephrol., 1996; 10: 594-597.
- Krüger M, Quaas L, van Velthoven V, Hebtschel R, Ziyeh S, Korinthenberg R: Parenchymale Hirnblutungen bei reifen Neugeborenen nach unauffälligem Spotanpartus. Geburtsh Frauenheilk, 2004; 64: 1068-1071.
- Krüger M, Quaas L, Velthoven van V, Hentschel R, Ziyeh S, Korinthenberg R: Parenchymale Hirnblutungen bei reifen Neugeborenen nach unauffälligem Spontanpartus Geburtsh Frauenheilk, 2004; 64: 1068-1071.
- Krüger M., Henschen M., Forster J., Brandis M.: Schwierigkeiten bei Diagnose und Therapie der exogen allergischen Alveolitis (EAA). Monatsschr Kinderheilkd, 1995; 143: 245-249.
- Krug I.: Enkopresis-Behandlung aus psychologischer Sicht. Kinderkrankenschwester, 1998; 11: 496.
- Krumbiegel D, Rohr J, Schmidtke P, Knuf M, Zepp F, Meyer CU: Efficient maturation and cytokine production of neonatal DCs requires combined proinflammatory signals. Clinical & developmental immunology., 2005; 12 (2): 99-105.
- Kruse S, Braun S, Deichmann KA: Distinct signal transduction processes by IL-4 and IL-13 through the IL-13 receptor and influences from the Q551R variant of the human IL-4 receptor alpha chain Respiratory research, 2002; 3 (1/24): 1-11.
- Kruse S, Kuehr J, Moseler M, Kopp MV, Kurz T, Deichmann KA, Foster PS, Mattes J: Polymorphisms in the IL 18 gene are associated with specific sensitization to common allergens and allergic rhinitis. J Allergy Clin Immun, 2002; 111: 117-122.
- Kruse S, Kuehr J, Moseler M, Kopp MV, Kurz T, Deichmann KA, Foster PS, Mattes J: Polymorphisms in the IL 18 gene are associated with specific sensitization to common allergens and allergic rhinitis. J Allergy Clin Immun, 2003; 111 (1): 117-122.
- Kruse S, Mao X-Q, Heinzmann A, Blattman S, Roberts M.H, Braun S, Gao P-S, Forster J, Kühr J, Hopkin J.M, Shirakawa T, Deichmann K.A: The Ile198Thr and Ala379Val variants of plasmatic PAF-acetyhlhydrolase impair catalytical activities and are associated with Atopy and Asthma. Am J Hum Genet, 2000; 66 (5): 1522-1530.
- Kruse S., Forster J., Kuehr J., and Deichmann K.A.: Characterization of the membrane bound and a soluble form of human IL4R produced by alternative splicing. International Immunology, 1999; 11: 1965-1970.
- Kruse S., Japha T., Tedner M., Hauschildt Sparholt S., Forster J., Kuehr J. and Deichmann KA.: The Polymorphisms S503P and Q576R in the IL4a-receptor gene are associated with atopy and influence the signal transduction. Immunology, 1999; 96(3): 365-371.
- Kruse S., Japha T., Tedner M., Sparholt S.H., Forster J., Kuehr J., Deichmann K.A.: The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology, 1999; 96: 365-371.
- Kruse S., Kuehr J., Forster J., Deichmann K.A.: Two common polymorphisms in the coding part of the CD43 gene are not associated with atopy International Archives of Allergy and Immunology, 1998; 117: 244-247.
- Kubiak C, de Andres-Trelles F, Kuchinke W, Huemer KH, Thirstrup S, Whitfield K, Libersa C, Barraud B, Grählert X, Dreier G *, Grychtol R *, Temesvari Z, Blasko G, Kardos G, O'Brien T, Cooney M, Gaynor S, Schieppati A, Sanz N, Hernandez R, Asker-Hagelberg C, Johansson H, Bourne S, Byrne J, Asghar A, Husson JM, Gluud C, Demotes-Mainard J: Common definition for categories of clinical research: a prerequisite for a survey on regulatory requirements by the European Clinical Research Infrastructures Network (ECRIN). Trials, 2009; 10 (online): 95. : http://dx.doi.org/10.1186/1745-6215-10-95
- Kubiak C, de Andres-Trelles F, Kuchinke W, Huemer KH, Thirstrup S, Whitfield K, Libersa C, Barraud B, Grählert X, Dreier G *, Grychtol R *, Temesvari Z, Blasko G, Kardos G, O'Brien T, Cooney M, Gaynor S, Schieppati A, Sanz N, Hernandez R, Asker-Hagelberg C, Johansson H, Bourne S, Byrne J, Asghar A, Husson JM, Gluud C, Demotes-Mainard J: Common definition for categories of clinical research: a prerequisite for a survey on regulatory requirements by the European Clinical Research Infrastructures Network (ECRIN). Trials, 2009; 10 (online): 95. : http://dx.doi.org/10.1186/1745-6215-10-95
- Kubicki R, Fingerhut K, Uhl M, Hummel J, Hohn R, Reineker K, Fleck T, Stiller B, Grohmann J: Wire-frame integrity of patch-like Gore devices following atrial septal defect closure. Catheter Cardio Inte, 2019; 93 (4): E238-E243. : http://dx.doi.org/10.1002/ccd.28103
- Kubicki R, Grohmann J, Siepe M, Benk C, Humburger F, Rensing-Ehl A, Stiller B: Early prediction of capillary leak syndrome in infants after cardiopulmonary bypass. Eur J Cardio-thorac, 2013; 44 (2): 275-281. : http://dx.doi.org/10.1093/ejcts/ezt028
- Kubicki R, Hohn R, Grohmann J, Fleck T, Reineker K, Kroll J, Siepe M, Benk C, Klemm R, Humburger F, Stiller B: Implementing and Assessing a Standardized Protocol for Weaning Children Successfully From Extracorporeal Life Support. Artif Organs, 2018; 42 (4): 394-400. : http://dx.doi.org/10.1111/aor.13069
- Kubicki R, Kroll J, Stiller B, Grohmann J: Overstepping anatomical hurdles when opening an extremely rudimentary right ventricular outflow tract - greater safety via a hybrid strategy? Eurointervention, 2016; 12 (10): 1311-1311. : http://dx.doi.org/10.4244/EIJV12I10A215
- Kubicki R, Stiller B, Hummel J, Hohn R, Fleck T, Grohmann J: Collateral closure in congenital heart defects with Amplatzer vascular plugs: single-center experience and a simplified delivery technique for exceptional cases. Heart Vessels, 2018. : http://dx.doi.org/10.1007/s00380-018-1232-3
- Kubicki R, Stiller B, Hummel J, Hohn R, Fleck T, Grohmann J: Collateral closure in congenital heart defects with Amplatzer vascular plugs: single-center experience and a simplified delivery technique for exceptional cases. Heart Vessels, 2019; 34 (1): 134-140. : http://dx.doi.org/10.1007/s00380-018-1232-3
- Kubicki R, Stiller B, Kroll J, Siepe M, Beyersdorf F, Benk C, Hohn R, Grohmann J, Fleck T, Zieger B: Acquired von Willebrand syndrome in paediatric patients during mechanical circulatory support. Eur J Cardio-thorac, 2018. : http://dx.doi.org/10.1093/ejcts/ezy408 (in Druck)
- Kubicki R, Stiller B, Kroll J, Siepe M, Beyersdorf F, Benk C, Hohn R, Grohmann J, Fleck T, Zieger B: Acquired von Willebrand syndrome in paediatric patients during mechanical circulatory support. Eur J Cardio-thorac, 2019; 55 (6): 1194-1201. : http://dx.doi.org/10.1093/ejcts/ezy408
- Kubicki R, Stiller B, Kroll J, Siepe M, Beyersdorf F, Benk C, Hohn R, Grohmann J, Fleck T, Zieger B: Acquired von Willebrand syndrome in paediatric patients during mechanical circulatory support. Eur J Cardio-thorac, 2019; 55 (6): 1194-1201. : http://dx.doi.org/10.1093/ejcts/ezy408
- Kubisch C., Ketelsen U.-P., Goebel I., Omran H.: Homozygous A92T CAV3 mutations cause autosomal recessive rippling muscle disease. Ann Neurol, 2005; 57: 303-304.
- Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Marodi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL: Selective predisposition to bacterial infections in IRAK-4-deficient children: J Exp Med, 2007; 204 (10): 2407-2422.
- Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Marodi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL: Selective predisposition to bacterial infections in IRAK-4-deficient children: J Exp Med, 2007; 204 (10): 2407-2422. : http://dx.doi.org/10.1084/jem.20070628
- Kuehr J, Brauburger J, Zielen S, Schauer U, Kamin W, Von Berg A, Leupold W, Bergmann KC, Rolinck-Werninghaus C, Grave M, Hultsch T, Wahn U: Efficacy of combination treatment with anti IgE plus specific immunotherapy in polysensitized children and adolescents with seasonal allergic rhinitis. J Allergy Clin Immun, 2002; 109: 274-280.
- Kuehr J.: Preventing exposure to mite allergens. Clin. Asthma Rev., 1998; 2: 117-122.
- Kuehr J., T. Frischer, R. Barth, W. Karmaus, S., Krüger, R. Meinert, R. Urbanek, J. Forster: Eosinophils and eosinophil cationic protein in children with and without sensitization to inhalant allergens. Eur. J. Pediatr., 1994; 153: 739-44..
- Kuehr J., T. Frischer, R. Meinert, R. Barth, S., Schraub, R. Urbanek, W. Karmaus, J. Forster: Mite allergen exposure is a risk for the incidence of specific sensitization. J Allergy Clin Immunol, 1994; 94: 44-52.
- Kuehr J., T. Frischer, R. Meinert, R. Barth, S., Schraub, R. Urbanek, W. Karmaus, J. Forster: Sensitization to mite allergens is a risk factor for early and late onset and for persistence of asthmatic signs in children. J Allergy Clin Immunol, 1995; 95: 655-662.
- Kuehr J., T. Frischer, W. Karmaus, R. Meinert, R., Barth, Daschner A, Urbanek R, Forster J: Natural variation in mite antigen density in house dust and relationship to residential factors. Clin Allergy, 1994; 24: 229-237.
- Kuhlen M, Bader P, Sauer M, Albert MH, Gruhn B, Gungor T, Kropshofer G, Lang P, Lawitschka A, Metzler M, Pentek F, Rossig C, Schlegel PG, Schrappe M, Schrum J, Schulz A, Schwinger W, von Stackelberg A, Strahm B, Suttorp M, Luettichau IT, Wossmann W, Borkhardt A, Meisel R, Poetschger U, Glogova E, Peters C: Low incidence of symptomatic osteonecrosis after allogeneic HSCT in children with Brit J Haematol, 2018; 183: 104-109. : http://dx.doi.org/10.1111/bjh.15511
- Kuhlen M, Willasch AM, Dalle JH, Wachowiak J, Yaniv I, Ifversen M, Sedlacek P, Guengoer T, Lang P, Bader P, Sufliarska S, Balduzzi A, Strahm B, von Luettichau I, Hoell JI, Borkhardt A, Klingebiel T, Schrappe M, von Stackelberg A, Glogova E, Poetschger U, Meisel R, Peters C: Outcome of relapse after allogeneic HSCT in children with ALL enrolled in the ALL-SCT 2003/2007 trial. Brit J Haematol, 2018; 180 (1): 82-89. : http://dx.doi.org/10.1111/bjh.14965
- Kühnemund O, Stutz A, Fuchshuber A, Querfeld U, Petrasch S, Reinert RR, Lütticken R: Immune response to the 23-valent pneumococcal polysaccharide vaccine in lymphoma patients with chronic renal diseases. Med Biol, 1997; 418: 837-839.
- Kuhnke N, Klus C, Dumpelmann M, Schulze-Bonhage A, Jacobs J: Simultaneously recorded intracranial and scalp high frequency oscillations help identify patients with poor postsurgical seizure outcome. Clin Neurophysiol, 2019; 130 (1): 128-137. : http://dx.doi.org/10.1016/j.clinph.2018.10.016
- Kuhnke N, Schwind J, Dumpelmann M, Mader M, Schulze-Bonhage A, Jacobs J: High Frequency Oscillations in the Ripple Band (80-250 Hz) in Scalp EEG: Higher Density of Electrodes Allows for Better Localization of the Seizure Onset Zone. Brain Topogr, 2018; 31 (6): 1059-1072. : http://dx.doi.org/10.1007/s10548-018-0658-3
- Kuhnke N,, Juenger H, Walther M, Berweck S, Mall V, Staudt M: Do patients with congenital hemiparesis and ipsilateral corticospinal projections respond differently to constraint-induced movement therapy? Dev Med Child Neurol, 2008; 50 (12): 898-903.
- Kuijpers T, van Bruggen R, Kamerbeek N, Tool ATJ, Hicsonmez G, Gurgey A, Karow A, Verhoeven AJ, Seeger K, Sanal Ö, Niemeyer CM, Roos D: Natural history and early diagnosis of LAD-1/variant syndrome. Blood, 2007; 109 (8): 3529-3537.
- Kulig M, Klettke U, Wahn V, Forster J, Bauer CP, Wahn U: Development of seasonal allergic rhinitis during the first 7 years of life. J Allergy Clin Immun, 2000; 106 (5): 832-839.
- Kulig M, Klettke U, Wahn V, Forster J, Bauer CP, Wahn U.: Development of seasonal allergic rhinitis during the first 7 years of life J Allergy Clin Immun, 2001; 106: 832-839.
- Kulig M, Perleth M, Langer G, Meerpohl JJ, Gartlehner G, Kaminski-Hartenthaler A, Schunemann HJ: [GRADE guidelines: 6. Rating the quality of evidence - imprecision]. Z Evid Fortbild Qual Gesundhwes, 2012; 106 (9): 677-688. : http://dx.doi.org/10.1016/j.zefq.2012.10.016
- Kulig M, Tacke U, Forster J, Edenharter G, Bergmann R, Sau S, Wahn V, Zepp F, MAS-Study Group: Serum IgE levels during the first 6 years of life J. Pediatr., 1999; 134: 433-438.
- KULIG M, BERGMANN R, TACKE U, WAHN U, GUGGENMOOS-HOLZMANN I: Long-lasting sensitization to food during the first two years preceds allergic airway disease. Pediatr Allergy Immunol, 1998; 6: 61-67.
- KULIG M, TACKE U, FORSTER J, EDENHARTER G, BERGMANN R, LAU S, WAHN V, ZEPP F, WAHN U: Serum IgE levels during the first 6 years of life The Journal of Pediatrics, 1999; 4: 453-458.
- Küllenberg de Gaudry D, Blümle A, Sommer H, Steinau S, Lindenberg J, Antes G, Niemeyer C, Meerpohl JJ: Studies and Publication Practice in Pediatric Hematology and Oncology in Germany - An Analysis of the Period 1970-2006. Klin Padiatr, 2015; 227 (6-07): 339-349. : http://dx.doi.org/10.1055/s-0035-1565085
- Ku M, Ke E, Sabouri-Ghomi M, Abadejos JR, Freeman B, Nham A, Phillips N, Yang KY, Lui KO, Kirak O: Deconstructive somatic cell nuclear transfer reveals novel regulatory T-cell subsets. J Allergy Clin Immun, 2018; 142 (3): 997-1000.e4. : http://dx.doi.org/10.1016/j.jaci.2018.04.038
- Kumar R, Kimura F, Ahn KW, Hu ZH, Kuwatsuka Y, Klein JP, Pasquini M, Miyamura K, Kato K, Yoshimi A, Inamoto Y, Ichinohe T, Wood WA Jr, Wirk B, Seftel M, Rowlings P, Marks DI, Schultz KR, Gupta V, Dedeken L, George B, Cahn JY, Szer J, Lee JW, Ho AY, Fasth A, Hahn T, Khera N, Dalal J, Bonfim C, Aljurf M, Atsuta Y, Saber W: Comparing Outcomes with Bone Marrow or Peripheral Blood Stem Cells as Graft Source for Matched Sibling Transplants in Severe Aplastic Anemia across Different Economic Regions. Biol Blood Marrow Tr, 2016; 22 (5): 932-940. : http://dx.doi.org/10.1016/j.bbmt.2016.01.012
- Kummer S, Venghaus A, Schlune A, Leube B, Eggermann T, Spiekerkoetter U: Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup. Pediatr Nephrol, 2014; 29 (1): 155-159. : http://dx.doi.org/10.1007/s00467-013-2617-2
- Kunath F, Grobe HR, Keck B, Rücker G, Wulich B, Antes G, Meerpohl JJ: Do urology journals enforce trial registration? A cross-sectional study of published trials. BMJ Open, 2011 (online).
- Kuntz A, Clement HW, Lehnert W, van Calker D, Hennighausen K, Gerlach M, Schulz E: Effects of secretin on extracellular amino acid concentrations in rat hippocampus. J Neural Transm, 2004; 111: 931-939.
- Kunzelmann K, Hubner M, Vollmer M, Ruf R, Hildebrandt F, Greger R, Schreiber R: A Bartter's syndrome mutation of ROMK1 exerts dominant negative effects on Cell Physiol Biochem, 2000; 10 (3): 117-124.
- Kunzelmann K, Mall M, Briel M, Hipper A, Nitschke R, Richen S, Greger R: The cystic fibrosis transmembrane conductance regulator attenuates the endogenous Ca2+activated Cl-conductance of Xenopus oocytes. Pflügers Archiv-European Journal of Physiology, 1997; 435: 178-181.
- Kunzelmannn K, Schreiber R, Nitschke R and Mall M: Control of the epithelial Na+ conductance by cystic fibrosis transmembrane regulator. Pflug Arch Eur J Phy, 2000; 440: 193-201.
- Kunze M, Klar M, Morfeld CA, Thorns B, Schild RL, Markfeld-Erol F, Rasenack R, Proempeler H, Hentschel R, Schaefer WR: Cytokines in noninvasively obtained amniotic fluid as predictors of fetal inflammatory response syndrome Am J Obstet Gynecol, 2016; 215: 96.e1-96.e8. : http://dx.doi.org/10.1016/j.ajog.2016.01.181
- Kunze M, Ziegler A, Fluegge K, Hentschel R, Proempeler H, Berner R: Colonization, serotypes and transmission rates of group B streptococci in pregnant women and their infants born at a single University Center in Germany. J Perinat Med, 2011; 39 (4): 417-422. : http://dx.doi.org/10.1515/jpm.2011.037
- Kunze M,, Zumstein K,, Markfeld-Erol F,, Elling R,, Lander F,, Prömpeler H,, Berner R,, Hufnagel M: Comparison of pre- and intrapartum screening of group B streptococci and adherence to screening guidelines: A cohort study. Eur J Pediatr, 2015; 174: 827-835.
- Kurane I, Kontny U, Janus J, Ennis FA: Dengue-2 virus infection of human mononuclear cell lines and establishment of persistent infections. Arch Virol, 1990; 110 (1-2): 91-101.
- Kurnik K, Bartsch I, Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, Rombach N, Busse A, Belohradsky BH, Muller-Hocker J, Aslanidis C, Schmitz G, Zieger B: Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets, 2013; 24 (7): 538-543. : http://dx.doi.org/10.3109/09537104.2012.741275
- Kurnik K, Bartsch I Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, Rombach N, Busse A, Belohradsky BH, Müller-Höcker J, Aslanidis C, Schmitz G, Zieger B: Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets, 2013; 24 (7): 538-543. : http://doi: 10.3109/09537104.2012.741275
- Kurth F, Bélard S, Adegnika AA, Gaye O, Kremsner PG, Ramharter M: Do paediatric drug formulations of artemisinin combination therapies improve the treatment of children with malaria? A systematic review and meta-analysis. Lancet Infect Dis, 2010; 10 (2): 125-132.
- Kurth F, Bélard S, Mombo-Ngoma G, Schuster K, Adegnika AA, Bouyou-Akotet MK, Kremsner PG, Ramharter M: Adolescence as risk factor for adverse pregnancy outcome in Central Africa - a cross-sectional study. Plos One, 2010; 5 (12) (online): e14367.
- Kurth F, Pongratz P, Bélard S, Mordmüller B, Kremsner PG, Ramharter M: In vitro activity of pyronaridine against Plasmodium falciparum and comparative evaluation of anti-malarial drug susceptibility assays. Malaria J, 2009; 8 (online): 79. : http://dx.doi.org/10.1186/1475-2875-8-79
- Kurz T, Hoffjan S, Hayes MG, Schneider D, Nicolae R, Heinzmann A, Jerkic SP, Parry R, Cox NJ, Deichmann KA, Ober C: Fine mapping and positional candidate studies on chromosome 5p13 identify multiple asthma susceptibility loci. J Allergy Clin Immun, 2006; 118 (2): 396-402.
- Kurz T, Strauch K, Dietrich H, Braun S, Hierl S, Jerkic SP, Wienker T, Deichmann KA, Heinzmann A: Multilocus haplotype analyses reveal association between 5 novel IL-15 polymorphisms and asthma. J Allergy Clin Immun, 2004; 113 (5): 896-901.
- Kurz T, Strauch K, Heinzmann A, Braun S, Jung M, Rüschendorf F, Moffat M, Cookson W, Inacio F, Ruffilli A, Nordskov-hansen G, Peltre G, Forster J, Kühr J, Reis A, Wienker T, Deichmann K.A: A european study on the genetics of mite sensitization (MISS). J Allergy Clin Immun, 2000; 106 (5): 925-932. (in Druck)
- Kurz T, Altmueller J, Strauch K, Ruschendorf F, Heinzmann A, Moffatt MF, Cookson WO, Inacio F, Nurnberg P, Stassen HH, Deichmann KA: A genome-wide screen on the genetics of atopy in a multiethnic European population reveals a major atopy locus on chromosome 3q21.3. Allergy, 2005; 60 (2): 192-199.
- Kuster J, Zapf J, Jakob A: Effects of hormones on cyclic AMP release in perfused rat livers. Febs Lett, 1973; 32 (1): 73-77.
- Labi V, Bertele D, Woess C, Tischner D, Bock FJ, Schwemmers S, Pahl HL, Geley S, Kunze M, Niemeyer CM, Villunger A, Erlacher M: Haematopoietic stem cell survival and transplantation efficacy is limited by the BH3-only proteins Bim and Bmf. Embo Mol Med, 2013; 5 (1): 122-136.
- Labi V, Erlacher M, Kiesling S, Manzl C, Frenzel A, O'Reilly L, Strasser A, Villunger A: Loss of the BH3-only protein Bmf impairs B cell homeostasis and accelerates gamma irradiation-induced thymic lymphoma development. J Exp Med, 2008; 205 (3): 641-655.
- Labi V, Erlacher M, Krumschnabel G, Manzl C, Tzankov A, Pinon J, Egle A, Villunger A: Apoptosis of leukocytes triggered by acute DNA damage promotes lymphoma formation. Gene Dev, 2010; 24 (15): 1602-1607.
- Labi V, Woess C, Tuziak S, Erlacher M, Bouillet P, Strasser A, Tzankov A, Villunger A: Deregulated cell death and lymphocyte homeostasis cause premature lethality in mice lacking the BH3-only proteins Bim and Bmf. Blood, 2014; 123 (17): 2652-2662.
- Lacher M, Schmitt-Gräff A, Greiner P, Brandis M, Niemeyer CM, Kontny U: Clinical Quiz. J Pediatr Gastr Nutr, 2006; 42: 336-338.
- Lacher M, Hermanns-Clausen M, Haeffner K, Brandis M, Pohl M: Severe metformin intoxication with lactic acidosis in an adolescent. Eur J Pediatr, 2005; 164 (6): 362-365.
- Lachner-Piza D, Epitashvili N, Schulze-Bonhage A, Stieglitz T, Jacobs J, Dumpelmann M: A single channel sleep-spindle detector based on multivariate classification of EEG epochs: MUSSDET. J Neurosci Meth, 2018; 297: 31-43. : http://dx.doi.org/10.1016/j.jneumeth.2017.12.023
- Lagodny J, Juttner E, Kayser G, Niemeyer CM, Rossler J: Lymphangiogenesis and its regulation in human neuroblastoma. Biochem Bioph Res Co, 2007; 352 (2): 571-577. : http://dx.doi.org/10.1016/j.bbrc.2006.11.062
- Lagreze WA, Joachimsen L, Gross N, Taschner C, Rossler J: Sirolimus-induced regression of a large orbital lymphangioma. Orbit, 2018 (online). : http://dx.doi.org/10.1080/01676830.2018.1436569
- Lagrèze WA, Rößler J, Illerhaus G, Maier W, Grosu A: Therapie anterior gelegener Orbitatumoren Ophthalmologe, 2011; 108 (6): 519-530.
- Lampeter EF, Klinghammer A, Scherbaum WA, Heinze E, Haastert B, Giani G, Kolb H, Denis Group, Gordjani N: An attempt to prevent type 1 diabetes. Diabetes, 1998; 47: 980-984.
- Lamy E, Goetz V, Erlacher M, Herz C, Mersch-Sundermann V: hTERT: Another brick in the wall of cancer cells. Mutat Res-rev Mutat, 2013; 752 (2): 119-128. : http://dx.doi.org/10.1016/j.mrrev.2012.12.005
- Lamy E, Hertrampf A, Herz C, Schuler J, Erlacher M, Bertele D, Bakare A, Wagner M, Weiland T, Lauer U, Drognitz O, Huber R, Rohn S, Giesemann T, Mersch-Sundermann V: Preclinical evaluation of 4-methylthiobutyl isothiocyanate on liver cancer and cancer stem cells with different p53 status. Plos One, 2013; 8 (8) (online): e70846. : http://dx.doi.org/10.1371/journal.pone.0070846
- Lander F, Berner R: Infektionen durch Staphylococcus aureus - verändert sich das Krankheitsspektrum? Kinder- und Jugendmedizin, 2008; 8: 65-72.
- Landfeldt E, Edstrom J, Buccella F, Kirschner J, Lochmuller H: Duchenne muscular dystrophy and caregiver burden: a systematic review. Dev Med Child Neurol, 2018; 60 (10): 987-996. : http://dx.doi.org/10.1111/dmcn.13934
- Landfeldt E, Mayhew A, Straub V, Lochmuller H, Bushby K, Lindgren P: Psychometric analysis of the pediatric quality of life inventory 3.0 neuromuscular module administered to patients with duchenne muscular dystrophy: A rasch analysis. Muscle Nerve, 2018; 58 (3): 367-373. : http://dx.doi.org/10.1002/mus.26109
- Landwehr-Kenzel S, Henneke P: Interaction of Streptococcus agalactiae and Cellular Innate Immunity in Colonization and Disease. Front Immunol, 2014; 5: 519-519. : http://dx.doi.org/10.3389/fimmu.2014.00519
- Lane M *, Boczonadi V *, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P *, Horvath R *: Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis, 2016; 39 (3): 427-436. : http://dx.doi.org/10.1007/s10545-016-9927-z
- Lane M *, Boczonadi V *, Bachtari S, Gomez-Duran A, Langer T, Griffiths A, Kleinle S, Dineiger C, Abicht A, Holinski-Feder E, Schara U, Gerner P *, Horvath R *: Mitochondrial dysfunction in liver failure requiring transplantation. J Inherit Metab Dis, 2016; 39 (3): 427-436. : http://dx.doi.org/10.1007/s10545-016-9927-z
- Lange B, Bockey A, Braun C, Janda A, Stete K, Müller A, Rieg S: Medizinethische Herausforderungen der Gesundheitsversorgung in der Erstaufnahme für Geflüchtete am Beispiel des Aufbaus eines integrierten Versorgungsmodells in der Erstaufnahme in Freiburg Zeitschrift für medizinische Ethik, 2018; 64: 51-64.
- Lange J, Ngoumou G, Berkenheide S, Moseler M, Mattes J, Kuehr J, Kopp MV: High interleukin-13 production by phytohaemagglutinin- and Der p 1-stimulated cord blood mononuclear cells is associated with the subsequent development of atopic dermatitis at the age of 3 years. Clin Exp Allergy, 2003; 33: 1537-1543.
- Lange J, Reihle C, Richter K, Ihorst G, Herrmann M, Schwehn H, Bosch B, Forster J, Kühr J: Charakterisierung einer Zielpopulation zur Prävention der Hausstaubmilben-Allergie bei Kleinkindern. Das Gesundheitswesen, 2001; 8: 567-572.
- Lange J, Heinzmann A, Zehle C, Kopp M.: CT genotype of promotor polymorphism C159T in the CD14 gene is associated with lower prevalence of atopic dermatitis and lower IL-13 production. Pediatr Allergy Immu, 2005; 16 (5): 456-457.
- Langenbacher E, Storm van's Gravesande K, Kühr J: Die Wirksamkeit von DNCG auf die eosinophile Inflammation bei Anstrengungsasthma im Kindesalter (influence of sodium cromoglycate on the eosinophilic inflammation). Monatsschrift Kinderheilkunde, 1998; 146: 271-301.
- Langenbach J, Stiller B, Kroll J, Grohmann J: Bilateral Arterial Ducts Causing Airway Compression by a Vascular Ring. Ann Thorac Surg, 2018; 105 (2): e89-e89. : http://dx.doi.org/10.1016/j.athoracsur.2017.09.014
- Langer T: Wie Mehrsprachigkeit das Versorgungssystem herausfordert und oft überfordert Kinderärztlichen Praxis, 2017; 2017 (88) Suppl. 2: 122-124. (download: https://www.researchgate.net/publication/315659254_Wie_Me)
- Langer T, Huk WJ, Hertzberg H, Überall MA, Meier W, Korinthenberg R, Beck JD: Akute lymphoblastische Leukämie im Kindesalter - Morphe und Funktion des Gehirns nach Behandlungsende. Deutsches Ärzteblatt, 1998; 95: 3058-3068.
- Langer T, Jazmati D, Jung O, Schulz C, Schnell MWS: Medical Students' Development of Ethical Judgement - Exploring the Learners' Perspectives using a mixed methods approach. GMS J Med Educ., 2016; 33 (5) (online): Doc74. : http://dx.doi.org/10.3205/zma001073
- Langer T, Martinez W, Browning DM, Varrin P, Sarnoff Lee B, Bell SK: Patients and families as teachers: a mixed methods assessment of a collaborative learning model for medical error disclosure and prevention. Bmj Qual Saf, 2016; 25: 615-625. : http://dx.doi.org/10.1136/bmjqs-2015-004292
- Langer T, Zapf T, Wirth S, Meyer B, Wiegand A, Timmen H, Gupta SJ, Schuster S, Geraedts M: [How are Pediatric Hospitals in North-Rhine Westfalia Prepared to Overcome Language Barriers? A Pilot Study Exploring The Structural Quality of Inpatient Care]. Eeg-emg-z Elek Elekt, 2016 (online). : http://doi.org/10.1055/s-0042-102349
- Langkau N, Martin N, Brandt R, Zugge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B: TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. Eur J Pediatr, 2002; 161 (7): 393-402.
- Lang N, Merkel E, Fuchs F, Schumann D, Klemm D, Kramer F, Mayer-Wagner S, Schroeder C, Freudenthal F, Netz H, Kozlik-Feldmann R, Sigler M: Bacterial nanocellulose as a new patch material for closure of ventricular septal defects in a pig model. Eur J Cardio-thorac, 2014. : http://dx.doi.org/10.1093/ejcts/ezu292 (in Druck)
- Lang N, Merkel E, Fuchs F, Schumann D, Klemm D, Kramer F, Mayer-Wagner S, Schroeder C, Freudenthal F, Netz H, Kozlik-Feldmann R, Sigler M: Bacterial nanocellulose as a new patch material for closure of ventricular septal defects in a pig model. Eur J Cardio-thorac, 2015; 47 (6): 1013-1021. : http://dx.doi.org/10.1093/ejcts/ezu292
- Lang N, Pereira MJ, Lee Y, Friehs I, Vasilyev NV, Feins EN, Ablasser K, O'Cearbhaill ED, Xu C, Fabozzo A, Padera R, Wasserman S, Freudenthal F, Ferreira LS, Langer R, Karp JM, del Nido PJ: A blood-resistant surgical glue for minimally invasive repair of vessels and heart defects. Sci Transl Med, 2014; 6 (218): 218ra6-218ra6. : http://dx.doi.org/10.1126/scitranslmed.3006557
- Largiader F, Hegglin J, Jakob A, Meili HU: [Preserved exocrine function as a prerequisite for successful pancreas transplantation]. Helv Chir Acta, 1968; 35 (1): 321-326.
- Largiader F, Rosenmund H, Jakob A: [Behavior of serum amylase in normal, pancreatectomized and pancreas transplanted dogs]. Schweiz Med Wschr, 1968; 98 (9): 323-327.
- Laube M, Amann E, Uhlig U, Yang Y, Fuchs HW, Zemlin M, Mercier JC, Maier RF, Hummler HD, Uhlig S, Thome UH: Inflammatory Mediators in Tracheal Aspirates of Preterm Infants Participating in a Randomized Trial of Inhaled Nitric Oxide. Plos One, 2017; 12 (1) (online): e0169352-e0169352. : http://dx.doi.org/10.1371/journal.pone.0169352
- Lausch E, Fisch M, Beetz R: Familial Mediterranean fever as an unusual cause of acute scrotum. J Urology, 2001; 165 (4): 1262-1263.
- Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A: TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet, 2008; 83 (5): 649-655. : http://dx.doi.org/10.1016/j.ajhg.2008.10.011
- Lausch E, Hermanns P, Farin HF, Alanay Y, Unger S, Nikkel S, Steinwender C, Scherer G, Spranger J, Zabel B, Kispert A, Superti-Furga A.: TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet, 2008; 83 (5): 649-655.
- Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A: Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet, 2011; 43 (2): 132-137. : http://dx.doi.org/10.1038/ng.749
- Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hubner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafe L, Spranger J, Unger S, Zabel B, Superti-Furga A: Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet, 2011; 43 (2): 132-137. : http://dx.doi.org/10.1038/ng.749
- Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B: Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet, 2009; 85 (2): 168-178. : http://dx.doi.org/10.1016/j.ajhg.2009.06.014
- Lausch E, Keppler R, Hilbert K, Cormier-Daire V, Nikkel S, Nishimura G, Unger S, Spranger J, Superti-Furga A, Zabel B: Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet, 2009; 85 (2): 168-178. : http://dx.doi.org/10.1016/j.ajhg.2009.06.014
- Lauten M, Fernandez-Munoz I, Gerdes K, von Neuhoff N, Welte K, Schlegelberger B, Schrappe M, Beger C: Kinetics of the in vivo expression of glucocorticoid receptor splice variants during prednisone treatment in childhood acute lymphoblastic leukaemia. Pediatr Blood Cancer, 2008. : http://dx.doi.org/10.1002/pbc.21867 (in Druck)
- Lauten M, Fernandez-Munoz I, Gerdes K, von Neuhoff N, Welte K, Schlegelberger B, Schrappe M, Beger C: Kinetics of the in vivo expression of glucocorticoid receptor splice variants during prednisone treatment in childhood acute lymphoblatic leukemia. Pediatr Blood Cancer, 2009; 52 (4): 459-463.
- Lauten M, Möricke A, Beier R, Zimmermann M, Stanulla M, Meissner B, Odenwald E, Attarbschi A, Niemeyer CM, Niggli F, Riehm H, Schrappe M: Prediction of outcome by early bone marrow response in childhood acute lymphoblastic leukemia treated in the ALL-BFM 95 trial: differential effects in precursor B-cell and T-cell leukemia. Haematol-hematol J, 2012; 97 (7): 1048-1056. : http://dx.doi.org/10.3324/haematol.2011.047613
- Lauten M, Schrauder A, Kardinal C, Harbott J, Welte K, Schlegelberger B, Schrappe M, von Neuhoff N: Unsupervised proteome analysis of human leukaemia cells identifies the Valosin-containing protein as a putative marker for glucocorticoid resistance. Leukemia, 2006; 20 (5): 820-826.
- Leaute-Labreze C, Hoeger P, Mazereeuw-Hautier J, Guibaud L, Baselga E, Posiunas G, Phillips RJ, Caceres H, Lopez Gutierrez JC, Ballona R, Friedlander SF, Powell J, Perek D, Metz B, Barbarot S, Maruani A, Szalai ZZ, Krol A, Boccara O, Foelster-Holst R, Febrer Bosch MI, Su J, Buckova H, Torrelo A, Cambazard F, Grantzow R, Wargon O, Wyrzykowski D, Roessler J, Bernabeu-Wittel J, Valencia AM, Przewratil P, Glick S, Pope E, Birchall N, Benjamin L, Mancini AJ, Vabres P, Souteyrand P, Frieden IJ, Berul CI, Mehta CR, Prey S, Boralevi F, Morgan CC, Heritier S, Delarue A, Voisard JJ: A randomized, controlled trial of oral propranolol in infantile hemangioma. New Engl J Med, 2015; 372 (8): 735-746. : http://dx.doi.org/10.1056/NEJMoa1404710
- Lebrecht D, Deveaud C, Beauvoit B, Bonnet J, Kirschner J, Walker UA: Uridine supplementation antagonizes zidovudine-induced mitochondrial myopathy and hyperlactatemia in mice. Arth Rheum/ar C Res, 2008; 58 (1): 318-326.
- Lebrecht D, Kirschner J, Geist A, Haberstroh J, Walker UA: Respiratory chain deficiency precedes the disrupted calcium homeostasis in chronic doxorubicin cardiomyopathy. Cardiovasc Pathol, 2010; 19 (5): e167-e174. : http://dx.doi.org/10.1016/j.carpath.2009.06.006
- Lebrecht D, Setzer B, Ketelsen U, Haberstroh J, Walker A: Time-Dependent and Tissue-Specific Accumulation of mtDNA and Respiratory Chain Defects in Chronic Doxorubicin Cardiomyopathy Circulation, 2003; 108: 2423-2429.
- Lebrecht D, Vargas-Infante YA, Setzer B, Kirschner J, Walker UA: Uridine supplementation antagonizes zalcitabine-induced microvesicular steatohepatitis in mice. Hepatology, 2007; 45 (1): 72-79.
- Lebrecht D, Venhoff AC, Kirschner J, Wiech T, Venhoff N, Walker UA: Mitochondrial tubulopathy in tenofovir disoproxil fumarate-treated rats Jaids-j Acq Imm Def, 2009; 51: 258-263.
- Lecchi A, Femia EA, Paoletta S, Dupuis A, Ohlmann P, Gachet C, Jacobson KA, Machura K, Podda GM, Zieger B*, Cattaneo M*, *Authors contributed equally: Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders. Hamostaseologie, 2016; 36 (4): 279-283. : http://dx.doi.org/10.5482/HAMO-16-03-0010
- Lecchi A, Razzari C, Paoletta S, Dupuis A, Nakamura L, Ohlmann P, Gachet C, Jacobson KA, Zieger B, Cattaneo M: Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis. Blood, 2015; 125 (6): 1006-1013. : http://dx.doi.org/10.1182/blood-2013-07-517896
- Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, Phillips AD, Lewindon P, Querfeld U, Heinz-Erian P, Muller T, Janecke AR: Significance of molecular testing for congenital chloride diarrhea. J Pediatr Gastr Nutr, 2011; 53 (1): 48-54. : http://dx.doi.org/10.1097/MPG.0b013e31820bc856
- Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, Phillips AD, Lewindon P, Querfeld U, Heinz-Erian P, Muller T, Janecke AR: Significance of molecular testing for congenital chloride diarrhea. J Pediatr Gastr Nutr, 2011; 53 (1): 48-54. : http://dx.doi.org/10.1097/MPG.0b013e31820bc856
- Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM: Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures". Am J Hum Genet, 2017; 101 (5): 815-823. : http://dx.doi.org/10.1016/j.ajhg.2017.09.019
- Lee HJ, Adham IM, Schwarz G, Kneussel M, Sass JO, Engel W, Reiss J: Molybdenum cofactor-deficient mice resemble the phenotype of human patients. Hum Mol Genet, 2002; 11 (26): 3309-3317.
- Lee HO, Gallego-Villar L, Grisch-Chan HM, Haberle J, Thony B, Kruger WD: Treatment of Cystathionine beta-Synthase Deficiency in Mice Using a Minicircle-Based Naked DNA Vector. Hum Gene Ther, 2019; 30 (9): 1093-1100. : http://dx.doi.org/10.1089/hum.2019.014
- Lee J, Lee C, Kim HH, Jakob A, Lemor R, Teh SY, Lee A, Shung KK: Targeted cell immobilization by ultrasound microbeam. Biotechnol Bioeng, 2011; 108 (7): 1643-1650. : http://dx.doi.org/10.1002/bit.23073
- Lefebvre J, Clarkson M, Massa F, Bradford ST, Charlet A, Buske F, Lacas-Gervais S, Schulz H, Gimpel C, Hata Y, Schaefer F, Schedl A: Alternatively spliced isoforms of WT1 control podocyte-specific gene expression. Kidney Int, 2015; 88 (2): 321-331. : http://dx.doi.org/10.1038/ki.2015.140
- Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V: Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet, 2011; 89 (1): 7-14. : http://dx.doi.org/10.1016/j.ajhg.2011.05.012
- Lehnardt S, Henneke P, Lien E, Kasper DL, Volpe JJ, Bechmann I, Nitsch R, Weber JR, Golenbock DT, Vartanian T: A mechanism for neurodegeneration induced by group B streptococci through activation of the TLR2/MyD88 pathway in microglia. J Immunol, 2006; 177 (1): 583-592.
- Lehnardt S, Henneke P, Lien E, Kasper DL, Volpe JJ, Bechmann I, Nitsch R, Weber JR, Golenbock DT, Vartanian T: A mechanism for neurodegeneration induced by group B streptococci through activation of the TLR2/MyD88 pathway in microglia. J Immunol, 2006; 177 (1): 583-592.
- Lehnardt S, Wennekamp J, Freyer D, Liedtke C, Krueger C, Nitsch R, Bechmann I, Weber JR, Henneke P: TLR2 and caspase-8 are essential for group B Streptococcus-induced apoptosis in microglia. J Immunol, 2007; 179 (9): 6134-6143.
- Lehnardt S., Wennekamp J., Freyer D., Liedtke C., Krueger C., Nitsch R., Bechmann I., Weber J.R.,, Henneke P: TLR2 and caspase-8 are essential for group B Streptococcus-induced apoptosis in microglia. J Immunol, 2007; 179: 6134-6143.
- Lehnert W: Įgimtų metabolizmo sutrikimų (organoacidurijų, aminoacidopatijų, lapalo ciklo, riebalų rūgčių ß-oksidacijos, mono- ir disacharidų bei purinų ir pirimidinų metabolizmo defektų) selektyvaus skriningo ir gydymo principai
(Principles of Selective Screening for and Therapy of Inborn Metabolic Disorders (Organic Acidurias, Aminoacidopathies, Defects of Urea Cycle, Fatty Acid ß-Oxidation, Mono-, Disaccharide, Purine and Pyrimidine Metabolism) Pediatrija, 2003; 5: 56-62.
- Lehnert W, Niederhoff H, Suormala T, Baumgartner ER: Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: longterm outcome in a case with neonatal onset. Eur. J. Pediatr., 1996; 155: 568-572.
- Lehnert W, Sass JO: Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency
(glutaric aciduria type I). Medical Hypotheses, 2005; 65 (2): 330-333.
- Lehnert W. Stögmann W., Engelke U. Wevers RA., van den Berg GB.: Long-term follow up of a new case of hawkinsinuria. Eur.J. of Pediatrics, 1999; 158: 578-582.
- Lehnhardt A, Karnatz C, Ahlenstiel-Grunow T, Benz K, Benz MR, Budde K, Buscher AK, Fehr T, Feldkotter M, Graf N, Hocker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya CR, Muller D, Neuhaus TJ, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Sparta G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper MJ: Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1. Clin J Am Soc Nephro, 2015; 10 (5): 825-831. : http://dx.doi.org/10.2215/CJN.10141014
- Lehrnbecher T, Attarbaschi A, Duerken M, Garbino J, Gruhn B, Kontny U, Lüer S, Philipps R, Scholz J, Wagner HJ, Wiesel T, Groll AH: Posaconazole salvage treatment in paediatric patients: a multicentre survey. Eur J Clin Microbiol, 2010; 29 (8): 1043-1045.
- Lehrnbecher T, Groll A, Agyeman P, Ammann RA, Attarbaschi A, Behrends U, Berger C, Hamprecht A, Hufnagel M, Laws HJ, Scheler M, Temme C, Vieth S, Simon A: [Recommendations for Diagnostics and Therapy of Children with Cancer Presenting with Fever and Neutropenia - Comparison of Two Current Guidelines]. Klin Padiatr, 2018; 230 (3): 115-121. : http://dx.doi.org/10.1055/s-0044-101953
- Lehrnbecher T, Kontny HU, Jeschke R: Metastatic Crohn's disease in a 9-year-old boy. J Pediatr Gastr Nutr, 1999; 28 (3): 321-323.
- Lemmer J, Heise G, Rentzsch A, Boettler P, Kuehne T, Dubowy KO, Peters B, Lemmer B, Hager A, Stiller B: Right ventricular function in grown-up patients after correction of congenital right heart disease. Clin Res Cardiol, 2010. : http://dx.doi.org/10.1007/s00392-010-0241-8 (in Druck)
- Lemmer J, Heise G, Rentzsch A, Boettler P, Kuehne T, Dubowy KO, Peters B, Lemmer B, Hager A, Stiller B: Right ventricular function in grown-up patients after correction of congenital right heart disease. Clin Res Cardiol, 2011; 100 (4): 289-296. : http://dx.doi.org/10.1007/s00392-010-0241-8
- Leoncini PP, Bertaina A, Papaioannou D, Flotho C, Masetti R, Bresolin S, Menna G, Santoro N, Zecca M, Basso G, Nigita G, Veneziano D, Pagotto S, D'Ovidio K, Rota R, Dorrance A, Croce CM, Niemeyer C, Locatelli F, Garzon R: MicroRNA fingerprints in juvenile myelomonocytic leukemia (JMML) identified miR-150-5p as a tumor suppressor and potential target for treatment. Oncotarget, 2016; 7 (34): 55395-55408. : http://dx.doi.org/10.18632/oncotarget.10577
- Leoncini PP, Vitullo P, Di Florio F, Tocco V, Cefalo MG, Pitisci A, Girardi K, Niemeyer C, Locatelli F, Bertaina A: Whole Genome MBD-seq reveals different CpG methylation patterns in Azacytidine-treated Juvenile Myelomonocytic Leukaemia (JMML) patients. Brit J Haematol, 2018; 182 (6): 909-912. : http://dx.doi.org/10.1111/bjh.14876
- Lernbecher T, Kontny HU, Jeschke R: Metastatic Crohn's disease in a 9-year-old boy. J Pediatr Gastroenterol Nutr, 1999; 3: 321-323.
- Lestner JM, Versporten A, Doerholt K, Warris A, Roilides E, Sharland M, Bielicki J, Goossens H, ARPEC Project Group: Systemic antifungal prescribing in neonates and children: outcomes from the Antibiotic Resistance and Prescribing in European Children (ARPEC) Study. Antimicrob Agents Ch, 2015; 42: 782-789. : http://dx.doi.org/10.1128/AAC.04109-14
- Leung CS, Yang KY, Li X, Chan VW, Ku M, Waldmann H, Hori S, Tsang JCH, Lo YMD, Lui KO: Single-cell transcriptomics reveal that PD-1 mediates immune tolerance by regulating proliferation of regulatory T cells. Genome Med, 2018; 10 (1): 71. : http://dx.doi.org/10.1186/s13073-018-0581-y
- Leung OM, Li J, Li X, Chan VW, Yang KY, Ku M, Ji L, Sun H, Waldmann H, Tian XY, Huang Y, Lau J, Zhou B, Lui KO: Regulatory T Cells Promote Apelin-Mediated Sprouting Angiogenesis in Type 2 Diabetes. Cell Rep, 2018; 24 (6): 1610-1626. : http://dx.doi.org/10.1016/j.celrep.2018.07.019
- Levenson VV, Lausch E, Kirschling DJ, Broude EV, Davidovich IA, Libants S, Fedosova V, Roninson IB: A combination of genetic suppressor elements produces resistance to drugs inhibiting DNA replication. Somat Cell Molec Gen, 1999; 25 (1): 9-26.
- Ley S, Eichhorn J, Ley-Zaporozhan J, Ulmer H, Schenk JP, Kauczor HU, Arnold R: Evaluation of aortic regurgitation in congenital heart disease: value of MR imaging in comparison to echocardiography. Pediatr Radiol, 2007; 37 (5): 426-36.
- Ley S, Zaporozhan J, Arnold R, Eichhorn J, Schenk JP, Ulmer H, Kreitner KF, Kauczor HU: Preoperative assessment and follow-up of congenital abnormalities of the pulmonary arteries using CT and MRI. Eur Radiol, 2006. (in Druck)
- Ley S, Zaporozhan J, Arnold R, Eichhorn J, Schenk JP, Ulmer H, Kreitner KF,, Kauczor HU: Preoperative assessment and follow-up of congenital abnormalities of the pulmonary arteries using CT and MRI. Eur Radiol, 2007; 17 (1): 151-162.
- Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S: ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency. J Allergy Clin Immun, 2018; 142 (4): 1297-1310.e11. : http://dx.doi.org/10.1016/j.jaci.2017.10.031
- Lichtenstein DA, Crispin AW, Sendamarai AK, Campagna DR, Schmitz-Abe K, Sousa CM, Kafina MD, Schmidt PJ, Niemeyer CM, Porter J, May A, Patnaik MM, Heeney MM, Kimmelman A, Bottomley SS, Paw BH, Markianos K, Fleming MD: A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. Blood, 2016; 128 (15): 1913-1917. : http://dx.doi.org/10.1182/blood-2016-05-719062
- Liebau MC, Gal A, Superti-Furga A, Omran A, Pohl M: L1CAM mutation in a male with hydrocephalus and duplex kidneys.
Pediatr Nephrol, 2007; 22 (7): 1058-1061.
- Liebau MC, Gal A, Superti-Furga A, Omran H, Pohl M: L1CAM mutation in a boy with hydrocephalus and duplex kidneys Pediatr Nephrol, 2007; 22 (7): 1058-1061.
- Liebau MC, Lang D, Bohm J, Endlich N, Bek MJ, Witherden I, Mathieson PW, Saleem MA, Pavenstadt H, Fischer KG: Functional expression of the renin-angiotensin system in human podocytes. Am J Physiol-renal, 2006; 290 (3): F710-F719.
- Lienkamp S, Ganner A, Boehlke C, Schmidt T, Arnold SJ, Schäfer T,, Romaker D, Schuler J, Hoff S, Powelske C, Eifler A,, Krönig C, Bullerkotte A, Nitschke R, Kuehn EW, Kim E, Burkhardt H, Brox T, Ronneberger O, Gloy J, Walz G: Inversin relays Frizzled-8 signals to promote proximal pronephros development. P Natl Acad Sci Usa, 2010; 107 (47): 20388-20393.
- Lilje C, Sauter S, Hinkelbein W, Korinthenberg R, Niemeyer C: Ausgeprägte periphere Neuropathie nach Chemo- und Radiotherapie eines lumbalen Ewing-Sarkoms. Klin Pädiatr, 1995; 207: 204-206..
- Limperger V, Klostermeier UC, Kenet G, Holzhauer S, Alhenc Gelas M, Finckh U, Junker R, Heller C, Zieger B, Kumik K, Knöfler R, Mesters R, Halimeh S, Nowak-Göttl U: Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study. Brit J Haematol, 2014; 167 (3): 385-393. : http://dx.doi.org/10.1111/bjh.13039
- Linden T, Ehlert K, Niemeyer CM, Fleischhack G, Jurgens H, Rossig C: Molecular diagnosis of Shwachman-Diamond syndrome in a child with incomplete clinical disease phenotype. Pediatr Blood Cancer, 2010; 55 (1): 177-179. : http://dx.doi.org/10.1002/pbc.22424
- Linden T, Furlan I, Schwarz S, Stoehr R, Niemeyer CM, Rossig C: Sequential acquisition of IgH and TCR rearrangements during the preleukemic phase of acute lymphoblatic leukemia in an adolescent patient. Pediatr Blood Cancer, 2011; 56 (2): 301-303.
- Linder-Lucht M, Juenger H, Walther M, Berweck S, Staudt M, Mall V: Cortical Neuromodulation by Constraint-Induced Movement Therapy in Congenital Hemiparesis - an fMRI Study Neuropediatrics, 2007; 38 (3): 130-136.
- Linder-Lucht M, Kirschner J, Herrmann J, Geth K, Korinthenberg R, Berweck S, Heinen F, Mall V: Why do children with cerebral palsy discontinue therapy with botulinum toxin A? Dev Med Child Neurol, 2006; 48 (4): 319-320.
- Linder-Lucht M, Othmer V, Walther M, Vry J, Michaelis U, Stein S, Weissenmayer H, Korinthenberg R, Mall V, GMFM-SHT Study Group: Validation of the Gross Motor Function Measure for use in children and adolescents with traumatic brain injuries Pediatrics, 2007; 120 (4): 880-886.
- Linder-Lucht M, Vry J: Botulinumtoxin - Multimodale Therapiemöglichkeiten und ihre Evidenz Neuropädiatrie in Klinik und Praxis, 2006; 3: 105-108.
- Linder M, Schindler G, Michaelis U, Stein S, Kirschner J, Mall V, Berweck S, Korinthenberg R, Heinen F: Medium-term functional benefits in children with cerebral palsy treated with botulinum toxin type A: 1-year follow-up using gross motor function measure Eur J Neurol, 2001; 8 Suppl. 5: 1-7.
- Linder M, Vry J: Botulinumtoxin - Multimodale therapiemöglichkeiten und ihre Evidenz. Aktuelle Neuropädiatrie, 2006; 3: -----.
- Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF: Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany Orphanet J Rare Dis, 2011; 6 (online): 44. : http://dx.doi.org/10.1186/1750-1172-6-44
- Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab KO, Tacke U, Trefz FK, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann GF: Efficacy and outcome of expanded newborn screening for metabolic disease--report of 10 years from South-West Germany. Orphanet J Rare Dis, 2011; 6 (online): 44. : http://dx.doi.org/10.1186/1750-1172-6-44
- Lipka DB, Witte T, Toth R, Yang J, Wiesenfarth M, Nollke P, Fischer A, Brocks D, Gu Z, Park J, Strahm B, Wlodarski M, Yoshimi A, Claus R, Lubbert M, Busch H, Boerries M, Hartmann M, Schonung M, Kilik U, Langstein J, Wierzbinska JA, Pabst C, Garg S, Catala A, De Moerloose B, Dworzak M, Hasle H, Locatelli F, Masetti R, Schmugge M, Smith O, Stary J, Ussowicz M, van den Heuvel-Eibrink MM, Assenov Y, Schlesner M, Niemeyer C, Flotho C, Plass C: RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia. Nat Commun, 2017; 8 (1) (online): 2126-2126. : http://dx.doi.org/10.1038/s41467-017-02177-w
- Lissat A, Chao MM, Kontny U: Targeted therapy in Ewing sarcoma. ISRN Oncol, 2012; 2012: 609439/1-10. : http://dx.doi.org/10.5402/2012/609439
- Lissat A, Joerschke M, Shinde DA, Braunschweig T, Meier A, Makowska A, Bortnick R, Henneke P, Herget G, Gorr TA, Kontny U: IL6 secreted by Ewing sarcoma tumor microenvironment confers anti-apoptotic and Bmc Cancer, 2015; 15 (online): 552. : http://dx.doi.org/10.1186/s12885-015-1564-7
- Lissat A, Vraetz T, Tsokos M, Klein R, Braun M, Koutelia N, Fisch P, Romero ME, Long L, Noellke P, Mackall CL, Niemeyer CM, Kontny U: Interferon-gamma sensitizes resistant Ewing's sarcoma cells to tumor necrosis factor apoptosis-inducing ligand-induced apoptosis by up-regulation of caspase-8 without altering chemosensitivity. Am J Pathol, 2007; 170 (6): 1917-1930.
- Liu Y, Lamkemeyer T, Jakob A, Mi G, Zhang F, Nordheim A, Hochholdinger F: Comparative proteome analyses of maize (Zea mays L.) primary roots prior to lateral root initiation reveal differential protein expression in the lateral root initiation mutant rum1. Proteomics, 2006; 6 (15): 4300-4308. : http://dx.doi.org/10.1002/pmic.200600145
- Li Y, Salfelder A, Schwab KO, Grünert SC, Velten T, Lutjohann D, Villavicencio-Lorini P, Matysiak-Scholze U, Zabel B, Kottgen A, Lausch E: Against all odds: blended phenotypes of three single-gene defects. Eur J Hum Genet, 2016; 24 (9): 1274-1279. : http://dx.doi.org/10.1038/ejhg.2015.285
- Li Y, Sekula P, Wuttke M, Wahrheit J, Hausknecht B, Schultheiss UT, Gronwald W, Schlosser P, Tucci S, Ekici AB, Spiekerkoetter U, Kronenberg F, Eckardt KU, Oefner PJ, Kottgen A: Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms. J Am Soc Nephrol, 2018; 29 (5): 1513-1524. : http://dx.doi.org/10.1681/ASN.2017101099
- Lobrinus JA, Schorderet DF, Payot M, Jeanrenaud X, Bottani A, Superti-Furga A, Schlaepfer J, Fromer M, Jeannet PY: Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease). Neuromuscular Disord, 2005; 15 (4): 293-298.
- Locatelli F, Crotta A, Ruggeri A, Eapen M, Wagner JE, Macmillan ML, Zecca M, Kurtzberg J, Bonfim C, Vora A, Diaz de Heredia C, Teague L, Stein J, O'Brien TA, Bittencourt H, Madureira A, Strahm B, Peters C, Niemeyer C, Gluckman E, Rocha V: Analysis of risk factors influencing outcomes after cord blood transplantation in children with juvenile myelomonocytic leukemia: a EUROCORD, EBMT, EWOG-MDS, CIBMTR study. Blood, 2013; 122 (12): 2135-2141. : http://dx.doi.org/10.1182/blood-2013-03-491589
- Locatelli F, Niemeyer C, Angelucci E, Bender-Götze C, Burdach S, Wolfram E, Friedrich W, Hasle H, Hermann J, Jacobsen N, Klingebiel T, Kremens B, Pession A, Peters C, Schmidt HJ, Stary J, Suttorp M, Uderzo C, van't Veer-Korthoff ET, Vossen J: Allogenic bone marrow transplantation for chronic meylomonocytic leukemia in childhood: a report from the European working group on myelodysplastic syndrome in childhood (EWOG-MDS). J. Clin. Oncol., 1997; 15: 566-573.
- Locatelli F, Nollke P, Zecca M, Korthof E, Lanino E, Peters C, Pession A, Kabisch H, Uderzo C, Bonfim CS, Bader P, Dilloo D, Stary J, Fischer A, Revesz T, Fuhrer M, Hasle H, Trebo M, van den Heuvel-Eibrink MM, Fenu S, Strahm B, Giorgiani G, Bonora MR, Duffner U, Niemeyer CM: Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial. Blood, 2005; 105 (1): 410-419. : http://dx.doi.org/10.1182/blood-2004-05-1944
- Locatelli F, Zecca M, Niemeyer C, Angelucci E, Bender-Götze C, Bonetti F, Vurdach S, Ebell W, Friedrich W, Hasle H, Hermann J, Jacobsen N, Klingebiel T, Kremens B, Mann G, Pession A, Peters C, Paolucci P, Schmid HJ, Stary J: Role of allogenic bone marrow transplantation for the treatment of myelodysplastic syndromes in childhood. Bone Marrow Transplant, 1996; 18: 63-68.
- Lochmuller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O: RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. Eur J Hum Genet, 2018; 26 (6): 778-785. : http://dx.doi.org/10.1038/s41431-018-0115-5
- Lochmuller H, Evans D, Farwell W, Finkel R, Goemans N, de Lemus M, Matyushenko V, Muntoni F, Ouillade MC, Schwersenz I, Wilson P: Position Statement: Sharing of Clinical Research Data in Spinal Muscular Atrophy to Accelerate Research and Improve Outcomes for Patients. J Neuromuscul Dis, 2018; 5 (2): 131-133. : http://dx.doi.org/10.3233/JND-180325
- Loeffelbein F, Funk D, Nakamura L, Zieger B, Grohmann J, Siepe M, Kroll J, Stiller B: Shear-stress induced acquired von Willebrand syndrome in children with congenital heart disease. Interact Cardiov Th, 2014; 19 (6): 926-932. : http://dx.doi.org/10.1093/icvts/ivu305
- Loeffelbein F, Funk D, Nakamura L, Zieger B, Grohmann J, Siepe M, Kroll J, Stiller B: Shear-stress induced acquired von Willebrand syndrome in children with congenital heart disease. Interact Cardiov Th, 2014; 19 (6): 926-932. : http://dx.doi.org/10.1093/icvts/ivu305
- Loeffelbein F, Funk D, Nakamura L, Zieger B, Grohmann J, Siepe M, Kroll J, Stiller B: Shear-stress induced acquired von Willebrand syndrome in children with congenital heart disease. Interact Cardiovasc Thorac Surg, 2014; 19 (6): 926-932. : http://dx.doi.org/10.1093/icvts/ivu305
- Loeffelbein F, Schlensak C, Beyersdorf F, Dittrich S: Successful interventional closure of a patent foramen ovale in a pediatric patient supported with a biventricular assist device. Interact Cardiovasc Thorac Surg, 2007; 6 (6): 778-779.
- Loeffelbein F, Zirell U, Benk C, Schlensak C, Dittrich S: High colloid oncotic pressure priming of cardiopulmonary bypass in neonates and infants: implications on haemofiltration, weight gain and renal function. Eur J Cardio-thorac, 2008; 34 (3): 648-652.
- Loffler H, Henneke P: [Infection with human immunodeficiency virus (HIV) in childhood]. Kinderkrankenschwester, 2009; 28 (2): 59-69.
- Löffler H, Bengel G, Berger A, Bruel J, et al: Klinische Variabilität der benignen fokalen Epilepsie mit centrotemporalen sharp-waves Epilepsieblätter, 1997; 10: 73-75.
- Löffler H, Henneke P: Pflege HIV-infizierter Kinder. Kinderkrankenschwester, 2008. (in Druck)
- Löffler H, Henneke P: [Infection with human immunodeficiency virus (HIV) in childhood] Kinderkrankenschwester, 2009; 28 (2): 59-69.
- Loges NT, Antony D, Maver A, Deardorff MA, Gulec EY, Gezdirici A, Nothe-Menchen T, Hoben IM, Jelten L, Frank D, Werner C, Tebbe J, Wu K, Goldmuntz E, Cuturilo G, Krock B, Ritter A, Hjeij R, Bakey Z, Pennekamp P, Dworniczak B, Brunner H, Peterlin B, Tanidir C, Olbrich H, Omran H, Schmidts M: Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects. Am J Hum Genet, 2018; 103 (6): 995-1008. : http://dx.doi.org/10.1016/j.ajhg.2018.10.020
- Loges NT, Olbrich H, Becker A, Haeffner H, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nuernberg G, Nuernberg P, Reinhardt R, Omran H: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet, 2009; 85: 883-889.
- Loges NT, Olbrich H, Becker-Heck A, Häffner K, Heer A, Reinhard C, Schmidts M, Kispert A, Zariwala MA, Leigh MW, Knowles MR, Zentgraf H, Seithe H, Nürnberg G, Nürnberg P, Reinhardt R, Omran H: Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet, 2009; 85 (6): 883-889.
- Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H: DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm Am J Hum Genet, 2008; 83 (5): 547-558.
- Loh CK, Weis B, van Velthoven V, Reiff C, Rossler J: Photophobia in a blind eye after removal of a progressive orbital optic glioma with denervation. J Neurol Sci, 2015; 358 (1-2): 522-524. : http://dx.doi.org/10.1016/j.jns.2015.09.375
- Loh ML, Martinelli S, Cordeddu V, Reynolds MG, Vattikuti S, Lee CM, Wulfert M, Germing U, Haas P, Niemeyer C, Beran MI, Strom S, Lübbert M, Sorcini M, Estey EH, Gattermann N, Tartagila M: Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia Leukemia Res, 2005; 29: 459-462.
- Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S, Mullighan CG, Chen L, Bergstraesser E, Bueso-Ramos CE, Emanuel PD, Hasle H, Issa JP, van den Heuvel-Eibrink MM, Locatelli F, Stary J, Trebo M, Wlodarski M, Zecca M, Shannon KM, Niemeyer CM: Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood, 2009; 114 (9): 1859-1863. : http://dx.doi.org/10.1182/blood-2009-01-198416
- Longoni D, D'Amico G, Gaipa G, Bernasconi S, Vulcano M, Onnis P, Niemeyer CM, Allavena P, Biondi A: Commitment of juvenile myelo-monocytic (JMML) leukemic cells to spontaneously differentiate into dendritic cells. Hematol J, 2002; 3 (6): 302-310. : http://dx.doi.org/10.1038/sj.thj.6200192
- Lonjou C, Barnes K, Chen H, Cookson W.O.C.M, Deichmann K.A, Hall I.P, Holloway J.W, Laitinen T, Palmer L.J, Wjst M, Morton N.E: A first trial of retrospective collaboration for positional cloning in complex inheritance: assay of the cytokine region on chromosome 5 by the Consortium on Asthma Genetics (COAG). P Natl Acad Sci Usa, 2000; 26;97 (20): 10942-10947.
- Loos S, Ahlenstiel T, Kranz B, Staude H, Pape L, Hartel C, Vester U, Buchtala L, Benz K, Hoppe B, Beringer O, Krause M, Muller D, Pohl M, Lemke J, Hillebrand G, Kreuzer M, Konig J, Wigger M, Konrad M, Haffner D, Oh J, Kemper MJ: An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children. Clin Infect Dis, 2012; 55 (6): 753-759. : http://dx.doi.org/10.1093/cid/cis531
- Loos S, Aulbert W, Hoppe B, Ahlenstiel-Grunow T, Kranz B, Wahl C, Staude H, Humberg A, Benz K, Krause M, Pohl M, Liebau MC, Schild R, Lemke J, Beringer O, Muller D, Hartel C, Wigger M, Vester U, Konrad M, Haffner D, Pape L, Oh J, Kemper MJ: Intermediate Follow-up of Pediatric Patients With Hemolytic Uremic Syndrome During the 2011 Outbreak Caused by E. coli O104:H4. Clin Infect Dis, 2017; 64 (12): 1637-1643. : http://dx.doi.org/10.1093/cid/cix218
- Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmuller H: How to Spot Congenital Myasthenic Syndromes Resembling the Lambert-Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features. Neuromol Med, 2018; 20 (2): 205-214. : http://dx.doi.org/10.1007/s12017-018-8490-1
- Loroch S, Trabold K, Gambaryan S, Reiss C, Schwierczek K, Fleming I, Sickmann A, Behnisch W, Zieger B, Zahedi RP, Walter U, Jurk K: Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. Thromb Haemostasis, 2017; 117 (3): 556-569. : http://dx.doi.org/10.1160/TH16-07-0515
- LOSSL HJ, JAKOB A: [Treatment of juvenile hemangioma and naevus flammeus with strontium-90 and yttrium-90]. Strahlentherapie, 1957; 104 (1): 90-93.
- Loukanov T, Arnold R, Gross J, Sebening C, Klimpel H, Eichhorn J, Hoss K, Ulmer HE, Kark M, Gorenflo M: Endothelin-1 and asymmetric dimethylarginine in children with left-to-right shunt after intracardiac repair. Clin Res Cardiol, 2008; 97 (6): 383-388. : http://dx.doi.org/10.1007/s00392-008-0645-x
- Lou-Meda R, Stiller B, Antonio ZL, Zielinska E, Yap HK, Kang HG, Tan M, Glazer RD, Valentin MA, Wang L: Long-term safety and tolerability of valsartan in children aged 6 to 17 years with hypertension. Pediatr Nephrol, 2018. : http://dx.doi.org/10.1007/s00467-018-4114-0 (in Druck)
- Lucena-Araujo AR, Kim HT, Jacomo RH, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Fagundes EM, de Lourdes Chauffaille M, Chiattone CS, Lima AS, Kwaan HC, Gallagher R, Niemeyer CM, Schrier SL, Tallman MS, Grimwade D, Ganser A, Berliner N, Ribeiro RC, Lo-Coco F, Löwenberg B, Sanz MA, Rego EM: Prognostic impact of KMT2E transcript levels on outcome of patients with acute promyelocytic leukaemia treated with all-trans retinoic acid and anthracyline-based chemotherapy: an International Consortium on Acute Promyelocytic Leukaemia study. Brit J Haematol, 2014; 4: 540-549.
- Lucena-Araujo AR, Kim HT, Jacomo RH, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Fagundes EM, Chauffaille MD, Chiattone CS, Lima AS, Ruiz-Argüelles G, Undurraga MS, Martinez L, Kwaan HC, Gallagher R, Niemeyer CM, Schrier SL, Tallman MS, Grimwade D, Ganser A, Berliner N, Ribeiro RC, Lo-Coco F, Löwenberg B, Sanz MA, Rego EM: Internal tandem duplication of the FLT3 gene confers poor overall survival in patients with acute promyelocytic leukemia treated with all-trans retinoic acid and anthracycline-based chemotherapy: an International Consortium on Acute Promyelocytic Leukemia study. Ann Hematol, 2014; 93: 2001-2010. : http://dx.doi.org/10.1007/s00277-014-2142-9
- Ludewig B, Ehl S, Karrer u, Hengartner H, Zinkernagel RM: Dendritic cell efficiently induce protective antiviral immunity. J. Virol., 1998; 72: 3812-3818.
- Ludewig B, Ehl S, Karrer U, Odermatt B, Hengartner H, Zinkernagel RM: Dendritic cells efficiently induce protective antiviral immunity. J Virol, 1998; 72 (5): 3812-3818.
- Ludwig A.-Ch.: Hygiene in der pädiatrischen Intensivmedizin. Heilberufe, 1998; 12: 32.
- Ludwig A.-Ch.: Hygiene in der Pflege: (Un)sichtbare Gefahr. Heilberufe, 1998; 10: 10.
- Ludwig A.-Ch.: Nosokomiale Infektionen in der Pädiatrie. Heilberufe, 1998; 10: 20.
- Ludwig A.-Ch.: Infektionen mit RS-Viren. Heilberufe, 1998; 09: 28.
- Ludwig A.-Ch.: Pflege von Patienten mit Mukoviszidose. Heilberufe, 1998; 09: 30.
- Ludwig A.-Ch.: Multiresistente Keime in der Pädiatrie Heilberufe, 1999; 09: 32.
- Ludwig A.-Ch., Dr. Ebner W.: Nadelstichverletzungen - Pflegekolleg Heilberufe, 1999; 08: 46.
- Luhl S, Bode H, Schlotzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grunert SC: Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. Orphanet J Rare Dis, 2016; 11 (1): 140-140. : http://dx.doi.org/10.1186/s13023-016-0525-9
- Lühl S, Bode H, Schlotzer W, Bartsakoulia M, Horvath R, Abicht A, Stenzel M, Kirschner J, Grünert SC: Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum. Orphanet J Rare Dis, 2016; 11 (1): 140-140. : http://dx.doi.org/10.1186/s13023-016-0525-9
- Lupo PJ, Brown AL, Hettmer S: Second malignancy risk among pediatric, adolescent, and young adult survivors of fusion-positive and fusion-negative sarcomas: Results from the SEER database, 1992 through 2012. Cancer J, 2016; 122: 3492-3500. : http://dx.doi.org/10.1002/cncr.30222
- Lupo PJ, Danysh HE, Plon SE, Curtin K, Malkin D, Hettmer S, Hawkins DS, Skapek SX, Spector LG, Papworth K, Melin B, Erhardt EB, Grufferman S, Schiffman JD: Family history of cancer and childhood rhabdomyosarcoma: a report from the Children's Oncology Group and the Utah Population Database. Cancer Med-us, 2015; 4 (5): 781-790. : http://dx.doi.org/10.1002/cam4.448
- Luzyanina T, Engelborghs K, Ehl S, Klenerman P, Bocharov G: Low level viral persistence after infection with LCMV: a quantitative insight through numerical
bifurcation analysis. Math Biosci, 2001; 173: 1-23.
- Luzyanina T, Engelborghs K, Ehl S, Klenerman P, Bocharov G: Low level viral persistence after infection with LCMV: a quantitative insight through numerical bifurcation analysis. Math Biosci, 2001; 173 (1): 1-23.
- Luzyanina T, Mrusek S, Edwards JT, Roose D, Ehl S, Bocharov G: Computational analysis of CFSE proliferation assay. J Math Biol, 2007; 54 (1): 57-89.
- Luzyanina T, Mrusek S, Edwards JT, Roose D, Ehl S, Bocharov G: Computational analysis of CFSE proliferation assay. J Math Biol, 2007; 54 (1): 57-89. : http://dx.doi.org/10.1007/s00285-006-0046-6
- Luzyanina T, Roose D, Schenkel T, Sester M, Ehl S, Meyerhans A, Bocharov G: Numerical modelling of label-structured cell population growth using CFSE distribution data. Theor Biol Med Model, 2007; 4: 26-26.
- Luzyanina T, Roose D, Schenkel T, Sester M, Ehl S, Meyerhans A, Bocharov G: Numerical modelling of label-structured cell population growth using CFSE distribution data. Theor Biol Med Model, 2007; 4: 26-26. : http://dx.doi.org/10.1186/1742-4682-4-26
- Macara, I.G., Baldarelli, R., Field, CF., Glotzer, M., Hayashi, Y., Hsu, S.-C., Kennedy, M.B., Kinoshita, M., Longtine, M., Low, C., Maltais, L.J., McKenzie, L., Mitchison, T., J., Nishikawa, T., Noda, M., Petty, E.M., Peifer, M., Pringle, J.R., Robinson, P.J., Roth, D., Russell, S.E.H., Stuhlmann, H., Tanaka, M., Tanaka, T., Trimble, W.S., Ware, J., Zeleznik-Le, N.J., Zieger, B: Mammalian septins nomenclature. l Mol Biol Cell, 2002; 13: 4111-4113.
- Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathebras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarstrom L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S: Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase delta Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase delta Syndrome Registry. Front Immunol, 2018; 9 (online): 543-543. : http://dx.doi.org/10.3389/fimmu.2018.00543
- Maccari ME, Speckmann C, Heeg M, Reimer A, Casetti F, Has C, Ehl S, Castro CN: Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations. Clin Immunol, 2019; 208: 108228-108228. : http://dx.doi.org/10.1016/j.clim.2019.06.004
- Macher P, Barth M, Trägner-Born J: Effektive Behandlung von Oralophobikern mit ausgeprägtem Narkosewunsch Teil 2. ZWR Das deutsche Zahnärzteblatt, 2005; 114 (1+2): 37-42.
- Macher P, Barth M, Trägner-Born J: Effektive Behandlung von Oralophobikern mit ausgeprägtem Narkosewunsch Teil 1. ZWR Das deutsche Zahnärzteblatt, 2005; 113 (12): 574-579.
- MacKenzie JR, Mattes J, Dent LA, Foster PS.: Eosinophils promote allergic disease of the lung by regulating CD4(+) Th2 lymphocyte function. J Immunol, 2001; 167: 3146-3155.
- Madureira ABM, Eapen M, Locatelli F, Teira P, Zhang MJ, Davies SM, Picardi A, Woolfrey A, Chan KW, Socié G, Vora A, Bertrand Y, Sales-Bonfim CM, Gluckman E, Niemeyer CM, Rocha V, on behalf of Eurocord-European Blood, Marrow Transplant Groop, Center of International Bllod, Marrow Transplant Registry, European Working Group on Childhood MDS: Analysis of risk factors influencing outcome in children with myelodysplastic syndrome after cord blood transplantation. Leukemia, 2011; 25 (3): 449-454. : http://dx.doi.org/10.1038/leu.2010.285
- Maecker B, Jack T, Zimmermann M, Abdul-Khaliq H, Burdelski M, Fuchs A, Hoyer P, Koepf S, Kraemer U, Laube GF, Muller-Wiefel DE, Netz H, Pohl M, Toenshoff B, Wagner HJ, Wallot M, Welte K, Melter M, Offner G, Klein C: CNS or bone marrow involvement as risk factors for poor survival in J Clin Oncol, 2007; 25 (31): 4902-4908.
- Mahnke C, Kashaiya P, Rossler J, Bannert H, Levin A, Blattner WA, Dietrich M, Luande J, Lochelt M, Friedman-Kien AE, et al.: Human spumavirus antibodies in sera from African patients. Arch Virol, 1992; 123 (3-4): 243-253.
- Mailaparambil B, Grychtol R, Heinzmann A: Respiratory syncytial virus bronchiolitis and asthma - insights from recent studies and implications therapy. Inflammation & Allergy-Drug Targets, 2009; 8 (3): 202-207.
- Mailaparambil B, Jochum J, Forster J, Heinze J, Krueger M, Heinzmann A: Polymorphisms of interferons and their receptors in the genetics of severe RSV-associated diseases. Arch Virol, 2008; 153 (11): 2133-2137. : http://dx.doi.org/10.1007/s00705-008-0232-5
- Mailaparambil B, Krueger M, Heinze J, Forster J, Heinzmann A: Polymorphisms of toll like receptors in the genetics of severe RSV associated diseases. Dis Markers, 2008; 25 (1): 59-65.
- Mailaparambil B, Krueger M, Heizmann U, Schlegel K, Heinze J, Heinzmann A: Genetic and epidemiological risk factors in the development of bronchopulmonary dysplasia. Dis Markers, 2010; 29 (1): 1-9. : http://dx.doi.org/10.3233/DMA-2010-0720
- Mailaparambil B,, Grychtol R,, Heinzmann A.: Respiratory syncytial virus bronchiolitis and asthma - insights from recent studies and implications for therapy. Inflamm Allergy Drug Targets, 2009; 8 (3): 202-207.
- Mall. M., Bleich M., Kühr J., Brandis M., Greger R., Kunzelmann K.: CFTR-mediated inhibition of ephithelial Na(+)conductance in human colon is defective in cystic fibrosis. Am. J. Physiol., 1999: G709-G716.
- Mall A., Sutor AH.: Kontinuierliche postoperative Infusion von Faktor VIII bei Hämophilie A. Päd. prax., 1999; 55: 433-438.
- Malley R, Hennecke P, Morse SC, Cieslewicz MJ, Lipsitch M, Thompson CM, Kurt-Jones E, Paton JC, Wessels MR, Golenbock DT: Interaction of pneumolysin with Toll-like receptor 4 determines susceptibility to pneumococcal infection. P Natl Acad Sci Usa, 2003; 100: 1966-1971.
- Malley R, Henneke P, Morse SC, Cieslewicz MJ, Lipsitch M, Thompson CM, Kurt-Jones E, Paton JC, Wessels MR, Golenbock DT: Recognition of pneumolysin by Toll-like receptor 4 confers resistance to pneumococcal infection. P Natl Acad Sci Usa, 2003; 100 (4): 1966-1971. : http://dx.doi.org/10.1073/pnas.0435928100
- Mall M, Bleich M, Schürlein M, Kühr J, Seydewitz HH, Brandis M, Greger R, Kunzelmann J: Cholinergic ion secretion in human colon requires co-activation by cAMP. Am. J. Physiol., 1998; 275: G1274-G1281.
- Mall M, Creda SM, Mengos M, Jensen TJ, Hirtz S, Seydewitz HH: The F508 Mutation Resultsin Loss of CFTR Function and Mature protein in Native Humon Colon. Gastroenterology, 2004; 126: 32-41.
- Mall M, Gonska T, Thomas J, Hirtz S, Schreiber R, Kunzelmann K.: Activation of ion secretion via proteinase-activated receptor-2 in human colon. Am J Physiol-gastr L, 2002; 282 (2): G200-G210.
- Mall M, Gonska T, Thomas J, Schreiber R, Seydewitz HH, Kuehr J, Brandis M, Kunzelmann K: Modulation of Ca2+-activated Cl- secretion by basolateral K+ channels in human normal and cystic fibrosis airway epithelia. Pediatr Res, 2003; 53 (4): 608-618.
- Mall M, Hipper A, Greger R, Kunzelmann K: Wild type but not F508 CFTR inhibits Na+ conductance when coexpressed in Xenopus oocytes. FEBS Lett., 1996; 381: 47-52.
- Mall M, Kunzelmann K, Hipper A, Busch AE, Greger R: cAMP stimulation of CFTR-expressing Xenopus oocytes activates a chromanol-inhibitable K+ conductance. Pflügers Arch, 1996; 432: 516-522.
- Mall M, Schreiber R, Bleich M, Greger R, Brandis M, Kühr J, Kunzelmann K: The amicloride inhibitable Na+ conductance is reduced by CFTR in normal but not in cystic fibrosis airways. J. Clin. Invest., 1998; 102: 15-21.
- Mall M, Sutor AH: Kontinuierliche postoperative Infusion von Faktor VIII bei Hämophilie A. Pädiatr Praxis, 1998; 55: 433-438.
- Mall M, Wissner A, Gonska T, Calenborn D, Kuehr J, Brandis M, Kunzelmann K: Inhibition of Amiloride-sensitive epithelial Na+ absorption by extracellular nucleotides in human normal an CF airway Am J Resp Cell Mol, 2000; 1;23 (6): 755-761.
- Mall M, Wissner A, Schreiber R, Kühr J, Seydewitz HH, Brandis M, Greger R and Kunzelmann K: Role of K(V)LQT1 in cAMP-mediated Cl secretion in human airway epithelia Am J Resp Cell Mol, 2000; 23: 283-289.
- Mall M, Wissner A, Seydewitz H.H, Kühr J, Brandis M, Greger R and Kunzelmann K: Defective cholinergic Cl(-)secretion and detection of K (+) secretion in rectal biopsies from cystic fibrosis patients. Am J Physiol-gastr L, 2000; 278: G617-G624.
- Mall M, Wissner A, Seydewitz HH, Hübner M, Kühr J, Brandis M, Greger R, Kunzelmann K: Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus ocytes. Brit J Pharmacol, 2000; 130: 1884-1892.
- Mall M., Bleich M., Schürlein M., Kühr J., Seydewitz HH., Brandis M., Greger R., Kunzelmann K.: Cholinergic ion secretion in human colon reqires coactivation ba cAMP. American Journal of Physiology, 1999; 275: G1274-G1281.
- Mall v, Linder M, Herpers M, Schelle A, Mendez-Mendez J, Korinthenberg R, Schumacher M, Spreer J: Recruitment of the Sensorimotor Cortex - A Develmopmental fMRI Study Neuropediatrics, 2005; 36: 373-379.
- Mall V: Botulinumtoxin-Therapie im Langzeitverlauf Neuropädiatrie in Klinik und Praxis, 2006; 3: 102-104.
- Mall V: Therapieforschung bei spastischen Bewegungsstörungen nach frühen Hirnläsionen Neuropädiatrie in Klinik und Praxis, 2006; 3: 92.
- Mall V: Beiträge der klinischen Neurophysiologie zum Verständnis der Entwicklung des Gehirns Monatsschr Kinderh, 2007; 6: 514-517.
- Mall V, Berweck S, Fietzek U, Glocker FX, Oberhuber U, Walther M, Schessl J, Schulte-Mönting J, Korinthenberg R, Heinen F: Low level of intracortical inhibition in children shown by transcranial magnetic stimulation Neuropediatrics, 2004; 35: 120-125.
- Mall V, Berweck S, Heinen F: Transkranielle Magnetstimulation im Kindesalter Klin Neurophysiol, 2004; 35: 45-50.
- Mall V, Berweck S, Kirschner J, Herrmann J, Schelle A, Michaelis U, Stein S, Korinthenberg R, Heinen F, Linder M: Die Therapie spastischer Bewegungsstörungen im Kindesalter mit Botulinumtoxin A Klin Neurophysiol, 2001; 32: 218-224.
- Mall V, Glocker F.X., Fietzek U, Heinen F, Berweck S, Rösler K.M., Korinthenberg R: Inhibitory conditioning stimulus in transcraial magnetic stimulation reduces the number of excited spinal motor neurons Clin Neurophysiol, 2001; 112: 1810-1813.
- Mall V, Glocker FX, Frankenschmidt A, Gordjani N, Heinen F, Brandis M, Korinthenberg R: Treatment of neuropathic bladder using botulinum toxin A in a 1-year-old child with myelomeningocele Pediatr Nephrol, 2001; 16: 1161-1162.
- Mall V, Glocker FX, Frankenschmidt A, Gordjani N, Heinen F, Brandis M, Korinthenberg R: Treatment of neuropathic bladder using botulinum toxin A in a 1-year-old child with myelomeningocele. Pediatr Nephrol, 2001; 16: 1161-1162.
- Mall V, Heinen F, Kirschner J, Linder M, Stein S, Michaelis U, Bernius P, Lane M, Korinthenberg R: Evaluation of Botulinum Toxin A Therapy in Children with Adductor Spasm by Gross Motor Function Measure J Child Neurol, 2000; 14 (4): 214-217.
- Mall V, Heinen F, Linder M, Philipsen A, Korinthenberg R: Treatment of cerebral palsy with botulinum toxin A: functional benefit and reduction of disability: three case reports Pediatr Rehabil, 1997; 1(4): 235-237.
- Mall V, Heinen F, Michaelis U: Klassifikation der motorischen Fähigkeiten von Kindern mit Zerebralparese Monatsschr Kinderh, 2009; 157: 1096-1097.
- Mall V, Heinen F, Siebel A, Bertram C, Hafkemeyer U, Wissel J, Berweck S, Haverkamp F, Nass G, Döderlein L, Breitbach-Faller N, Schulte-Mattler W, Korinthenberg R: Treatment of adductor spasticity with BTX-A in children with CP: a randomized, double-blind, placebo-controlled study Dev Med Child Neurol, 2006; 48 (1): 10-13.
- Mall V, Heinen F, Uhl M, Wellens E, Korinthenberg R: CNS Lipoma in Patients with Epidermal Nevus Syndrome Neuropediatrics, 2000; 31: 175-179.
- Mall V, Jung N, Linder-Lucht M: Focus on Cerebral Palsy Monatsschr Kinderh, 2009; 157: 1098-1102.
- Mall V, Kirschner J, Linder M, Schindler G, Berweck S, Stein S, Michaelis U, Bernius P, Korinthenberg R, Heinen F: Botulinum toxin A in children with cerebral palsy: evaluation of therapy using the Pediatric Evaluation of Disability Inventory (PEDI) J of Pediatric Neurology, 2003; 1: 29-34.
- Mall V, Novotny T, Langer T: Gesundheitsfürsorge von Kindern und Jugendlichen mit Fluchthintergrund - sozialpädiatrische Aspekte Kinderärztliche Praxis, 2016; 87 (5): 318-321.
- Mall V, Thomas KB, Sauter S, Niemeyer CM, Sutor AH: Effect of glucocorticoids, E. coli- and Erwinia L-asparaginase on hemostatic proteins in children with acute lymphoblastic leukemia. Klin Padiatr, 1999; 211 (4): 205-210. : http://dx.doi.org/10.1055/s-2008-1043789
- MALL V, THOMAS K-B, SAUTER S, NIEMEYER C-M, SUTOR A-H: Effect of glucocorticoids E. coli- and Erwinia L-asparaginase on hemostatic proteins in children with acute lymphoblastic leukemia Klinische Pädiatrie, 1999; 211: 205-210.
- Mall V., Thomas KB., Sauter S., Niemeyer CM., Sutor AH.: Effect of glucocorticoids, E.coli- and Erwinia L-asparaginase on hemostatic proteins in children with acute lymphoblastic leukemia. Klin. Pädiatr., 1999; 211: 205-210.
- Mambula SS, Sau K, Henneke P, Golenbock DT, Levitz SM: Toll-like receptor (TLR) signaling in response to Aspergillus fumigatus. J Biol Chem, 2002; 277 (42): 39320-39326.
- Mambula SS, Sau K, Henneke P, Golenbock DT, Levitz SM: Toll-like receptor (TLR) signaling in response to Aspergillus fumigatus. J Biol Chem, 2002; 277 (42): 39320-39326. : http://dx.doi.org/10.1074/jbc.M201683200
- Mancuso G, Midiri A, Beninati C, Biondo C, Galbo R, Akira S, Henneke P, Golenbock D, Teti G: Dual role of TLR2 and myeloid differentiation factor 88 in a mouse model of invasive group B streptococcal disease. J Immunol, 2004; 172 (10): 6324-6329.
- Mancuso G, Midiri A, Beninati C, Biondo C, Galbo R, Akira S, Henneke P, Golenbock D, Teti G: Dual role of TLR2 and myeloid differentiation factor 88 in a mouse model of invasive group B streptococcal disease. J Immunol, 2004; 172 (10): 6324-6329.
- Marciniak M, Claus P, Streb W, Marciniak A, Boettler P, McLaughlin M, D'hooge J, Rademakers F, Bijnens B, Sutherland GR: The quantification of dipyridamole induced changes in regional deformation in normal, stunned or infarcted myocardium as measured by strain and strain rate: an experimental study. Int J Cardiovas Imag, 2008; 24 (4): 365-376. : http://dx.doi.org/10.1007/s10554-007-9269-x
- Marenholz I, Esparza-Gordillo J, Ruschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Saaf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Soderhall C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrlander C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Folster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nothen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hubner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MA, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melen E, Dizier MH, Henderson AJ, Lee YA: Meta-analysis identifies seven susceptibility loci involved in the atopic march. Nat Commun, 2015; 6: 8804-8804. : http://dx.doi.org/10.1038/ncomms9804
- Mari F, Hermanns P, Giovannucci-Uzielli ML, Galluzzi F, Scott D, Lee B, Renieri A, Unger S, Zabel B, Superti-Furga A: Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. Eur J Hum Genet, 2009; 17 (9): 1141-1147. : http://dx.doi.org/10.1038/ejhg.2009.27
- Markl M, Arnold R, Hirtler D, von Zur Muhlen C, Harloff A, Langer M, Hennig J, Frydrychowicz A: Three-dimensional flow characteristics in aortic coarctation and poststenotic dilatation. J Comput Assist Tomo, 2009; 33 (5): 776-778. : http://dx.doi.org/10.1097/RCT.0b013e3181906766
- Markl M, Geiger J, Jung B, Hirtler D, Arnold R: Noninvasive evaluation of 3D hemodynamics in a complex case of single ventricle physiology. J Magn Reson Imaging, 2012; 35 (4): 933-937. : http://dx.doi.org/10.1002/jmri.22861
- Markl M, Geiger J, Kilner PJ, Foll D, Stiller B, Beyersdorf F, Arnold R, Frydrychowicz A: Time-resolved three-dimensional magnetic resonance velocity mapping of cardiovascular flow paths in volunteers and patients with Fontan circulation. Eur J Cardio-thorac, 2011; 39 (2): 206-212. : http://dx.doi.org/10.1016/j.ejcts.2010.05.026
- Markl M, Geiger J, Stiller B, Arnold R: Impaired continuity of flow in congenital heart disease with single ventricle physiology. Interact Cardiovasc Thorac Surg, 2010. : http://dx.doi.org/10.1510/icvts.2010.250977 (in Druck)
- Markl M, Geiger J, Stiller B, Arnold R: Impaired continuity of flow in congenital heart disease with single ventricle physiology. Interact Cardiovasc Thorac Surg, 2011; 12 (1): 87-90. : http://dx.doi.org/10.1510/icvts.2010.250977
- Maroofian R, Schuele I, Najafi M, Bakey Z, Rad A, Antony D, Habibi H, Schmidts M: Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child. Kidney Int Rep, 2018; 3 (6): 1454-1463. : http://dx.doi.org/10.1016/j.ekir.2018.07.015
- Martens-Le Bouar H, Korinthenberg R: Polyradiculoneuritis with myelitis: A rare differential diagnosis of Guillain-Barré-Syndrome Neuropediatrics, 2002; 33: 93-96.
- Martens S, Matheis G, Wimmer-Greinecker G, Feuerbach J, Jakob A, Mierdl S, Moritz A: Heparin coating of the extracorporeal circuit combined with leukocyte filtration reduces coagulation activity, blood loss and blood product substitution. Int J Artif Organs, 2001; 24 (7): 484-488.
- Martinez-Lizana E, Fauser S, Brandt A, Schuler E, Wiegand G, Doostkam S, San Antonio-Arce V, Jacobs J, Bast T, Shah M, Zentner J, Schulze-Bonhage A: Long-term seizure outcome in pediatric patients with focal cortical dysplasia undergoing tailored and standard surgical resections. Seizure-eur J Epilep, 2018; 62: 66-73. : http://dx.doi.org/10.1016/j.seizure.2018.09.021
- Martini S, Fischer C, Guignard JP: [Vesico-ureteral reflux in children: current aspects and recommendations] Arch Pediatrie, 2002; 9 (4): 346-349.
- März W., Seydewitz H.H., Winkelmann B., Chen M., Nauck M., Witt I.: Mutation in coagulation factor V associated with resistance to activated protein C in patients with coronary arterie disease. Lancet, 1995; 345: 526-527.
- Masnari O, Landolt MA, Roessler J, Weingaertner SK, Neuhaus K, Meuli M, Schiestl C: Self-and parent-perceived stigmatisation in children and adolescents with congenital or acuqired facial differences. J Plast Reconstr Aes, 2012; 65 (12): 1664-1670.
- Masnari O, Schiestl C, Rossler J, Gutlein SK, Neuhaus K, Weibel L, Meuli M, Landolt MA: Stigmatization Predicts Psychological Adjustment and Quality of Life in Children and Adolescents With a Facial Difference. J Pediatr Psychol, 2012. : http://dx.doi.org/10.1093/jpepsy/jss106 (in Druck)
- Masnari O, Schiestl C, Rossler J, Gutlein SK, Neuhaus K, Weibel L, Meuli M, Landolt MA: Stigmatization predicts psychological adjustment and quality of life in children and adolescents with a facial difference. J Pediatr Psychol, 2013; 38 (2): 162-172. : http://dx.doi.org/10.1093/jpepsy/jss106
- Massari P, Henneke P, Ho Y, Latz E, Golenbock DT, Wetzler LM: Cutting edge: Immune stimulation by neisserial porins is toll-like receptor 2 and MyD88 dependent. J Immunol, 2002; 168 (4): 1533-1537.
- Massari P, Henneke P, Ho Y, Latz E, Golenbock DT, Wetzler LM: Cutting edge: Immune stimulation by neisserial porins is toll-like receptor 2 and MyD88 dependent. J Immunol, 2002; 168 (4): 1533-1537.
- Matern D, Heinen F, Pringsheim W, Brandis M, Leititis JU: Zinkmangelsyndrom bei vollgestilltem Neugeborenen. Monatsschr Kinderheilk, 1995; 143: 1255-1256.
- Matern D, Lang C, Beck S, Brandis M, Seydewitz HH: Diagnostik der Glykogenose Typ Ia: DNA-Analyse aus Leukozyten als Alternative zum Enzymassay aus einem frischen Leberbiopsat. Monatsschr Kinderheilkd, 1998; 146: 660-664.
- Matern D, Lehnert W, Gibson KM, Korinthenberg R: Seizures in a boy with succinic symialdehydedrogenase deficiency treated with viagabatrin (Betag-Vinyl-GABA). J Inher Metab Dis, 1996; 19: 313-328.
- Matern D, Lehnert W, Gibson K M, Korinthenberg R: Seizures in a boy with succinic semialdehyde dehydrogenase deficiency treated with vigabatrin (gamma-vinyl-GABA) J Inher Metabol Dis, 1996; 19: 313-328.
- Matern D, Seydewitz HH, Lehnert W, Niederhoff H, Leititis J, Brandis M: Primary treatment of propionic acidemia complicated by acute thiamine deficiency. J. Pediatr., 1996; 129: 758-760.
- Matern D, Seydewitz HH, Niederhoff H, Wiebusch H, Brandis M: Dyslipidaemia in a boy with recurrent abdominal pain, hypersalivation and decreased lipoprotein lipase activity Eur. J. Pediatr., 1996; 155: 660-664.
- Mattes J, Hulett M, Xie W, Hogan SP, Rothenber Me, Foster PS, Parish CR: Immunotherapy of cytotoxic T-cell resistant tumor by T helper 2 cells: an eotaxin and STAT-6 dependent process. J Exp Med, 2003; 197: 387-393.
- Mattes J, Karmaus W, Moseler M, Firscher T, Kühr J: Accumulation of atopic disorders within families: a sibling effect only in the offspring of atopic fathers. Clin. Exp. Allergy, 1998; 28: 1480-1487.
- Mattes J, Storm van's Gravesande K, Moeller C, Moseler M, Brandis M, Kuehr J: Circadian variation of exhaled nitric oxide and urinary eosinophil protein X in asthmatic and healthy
children. Pediatr Res, 2002; 51: 190-194.
- Mattes J, Yang M, Mahalingam S, Kuehr J, Webb DC, Simson L, Hogan SP, Koskinen A, McKenzie, AN, Dent LA, Rothenberg ME, Matthaei KI, Young IG, Foster PS.: Intrinsic defect in T cell production of interleukin IL 13 in the absence of both IL 5 and eotaxin precludes the
development of eosinophilia and airways hyperreactivity in experimental asthma. J Exp Med, 2002; 195: 1433-1444.
- Mattes J, Yang M, Siqueira A, Clark K, MacKenzie J, McKenzie AN, Webb DC, Matthaei KI, Foster PS.: IL-13 induces airways hyperreactivity independently of the IL-4R alpha chain in the allergic lung. J Immunol, 2001; 167: 1683-1692.
- Mattes J., Karmaus W., Storm van´s Gravesande K., Moseler M., Forster J., Kuehr J.: Pulmonary function in children of school age is related to the number of siblings in the families. Pediatric Pulmonology, 1999; 28: 414-417.
- Mattes J., Storm van´s Gravesande K., Reining U., Alving K., Ihorst G., Henschen M., Kuehr J.: NO in exhaled air is correlated with markers of eosinophilic airway inflammation in corticosteroid-dependent childhood asthma. Eur. Respir. J., 1999; 13: 1391-1395.
- Mattijssen S, Hinson ER, Onnekink C, Hermanns P, Zabel B, Cresswell P, Pruijn GJ: Viperin mRNA is a novel target for the human RNase MRP/RNase P endoribonuclease. Cell Mol Life Sci, 2011; 68 (14): 2469-2480. : http://dx.doi.org/10.1007/s00018-010-0568-3
- Mattijssen S,, Hinson ER, Onnekink C,, Hermanns P,, Zabel B, Cresswell P, Pruijn GJ: Viperin mRNA is a novel target for the human RNase MRP / RNase P endoribonuclease. Cell Mol Life Sci, 2010. (in Druck)
- Mattyus I, Zimmerhackl LB, Schwarz A, Brandis M, Miltenyi M, Tulassay T: Elevated urinary excretion of endothelin in insulin-dpendent diabetes mellitus - no influence of physical exercise. Acta paediatrica, 1996; 85: 1058-1061.
- Mattyus I, Zimmerhackl LB, Schwarz A, Brandis M, Miltenyi M, Tulassay T: Renal excretion of endothelin in children. Pediatr. Nephrol., 1997; 11: 513-521.
- Maul-Pavicic A,, Chiang S, Rensing-Ehl A, Fauriat C, Hufnagel M, Schulze I, Bass T, Schamel W, Schwarz K, Bryceson Y, Ehl S: Orai1 is required for target cell-induced NK cell degranulation and cytokine production. P Natl Acad Sci Usa, 2011; 108: 3324-3329.
- Mauritz C, Martens A, Rojas SV, Schnick T, Rathert C, Schecker N, Menke S, Glage S, Zweigerdt R, Haverich A, Martin U, Kutschka I: Induced pluripotent stem cell (iPSC)-derived Flk-1 progenitor cells engraft, differentiate, and improve heart function in a mouse model of acute myocardial infarction. Eur Heart J, 2011; 32 (21): 2634-2641. : http://dx.doi.org/10.1093/eurheartj/ehr166
- Mauritz C, Martens A, Rojas SV, Schnick T, Rathert C, Schecker N, Menke S, Glage S, Zweigerdt R, Haverich A, Martin U, Kutschka I: Induced pluripotent stem cell (iPSC)-derived Flk-1 progenitor cells engraft, differentiate, and improve heart function in a mouse model of acute myocardial infarction. Eur Heart J, 2011; 32 (21): 2634-2641. : http://dx.doi.org/10.1093/eurheartj/ehr166
- Maydell B, Kopp M, Komorowski von G, Joe A, Juengling F.D., Korinthenberg R: Hashimoto Encephalopathy - is it underdiagnosed in pediatric patients? Neuropediatrics, 2002; 33: 86-89.
- Maydell BV, Berenson F, Rothner AD, Wyllie E, Kotagal P: Benign myoclonus of early infancy: an initator of West's syndrome J Child Neurol, 2001; 16: 109-112.
- Mayer H, Diener W, U.Heinemann: Verhaltensnebenwirkungen von Antiepileptika I.Wahl bei Kindern und Jugendlichen. Epilepsie 94, Deutsche Sektion d.Liga gegen Epilepsie, Berlin, 1995; 94: 307-312.
- Mayer J, van der Werf-Grohmann N, Kroll J, Spiekerkoetter U, Stiller B, Grohmann J: Dysphagia after arteria lusoria dextra surgery: Anatomical considerations before World J Cardiol, 2017; 9 (2): 191-195. : http://dx.doi.org/10.4330/wjc.v9.i2.191
- Mayer J, van der Werf-Grohmann N, Kroll J, Spiekerkoetter U, Stiller B, Grohmann J: Dysphagia after arteria lusoria dextra surgery: Anatomical considerations before World J Cardiol, 2017; 9 (2): 191-195. : http://dx.doi.org/10.4330/wjc.v9.i2.191
- Mayer SC, Gilsbach R, Preissl S, Monroy Ordonez EB, Schnick T, Beetz N, Lother A, Rommel C, Ihle H, Bugger H, Ruhle F, Schrepper A, Schwarzer M, Heilmann C, Bonisch U, Gupta SK, Wilpert J, Kretz O, von Elverfeldt D, Orth J, Aktories K, Beyersdorf F, Bode C, Stiller B, Kruger M, Thum T, Doenst T, Stoll M, Hein L: Adrenergic Repression of the Epigenetic Reader MeCP2 Facilitates Cardiac Adaptation in Chronic Heart Failure. Circ Res, 2015; 117 (7): 622-633. : http://dx.doi.org/10.1161/CIRCRESAHA.115.306721
- Mayer SC, Gilsbach R, Preissl S, Monroy Ordonez EB, Schnick T, Beetz N, Lother A, Rommel C, Ihle H, Bugger H, Ruhle F, Schrepper A, Schwarzer M, Heilmann C, Bonisch U, Gupta SK, Wilpert J, Kretz O, von Elverfeldt D, Orth J, Aktories K, Beyersdorf F, Bode C, Stiller B, Kruger M, Thum T, Doenst T, Stoll M, Hein L: Adrenergic Repression of the Epigenetic Reader MeCP2 Facilitates Cardiac Adaptation in Chronic Heart Failure. Circ Res, 2015; 117 (7): 622-633. : http://dx.doi.org/10.1161/CIRCRESAHA.115.306721
- Mayorandan S, Meyer U, Gokcay G, Segarra N, de Baulny H, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla A, Cocho de Juan J, Couce Pico M, Santer R, Scholl-Burgi S, Mandel H, Bliksrud Y, Freisinger P, Aldamiz-Echevarria L, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das A: Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis, 2014; 9 (1) (online): 107. : http://dx.doi.org/10.1186/s13023-014-0107-7
- Mayr JA, Haack TB, Graf E, Zimmermann FA, Wieland T, Haberberger B, Superti-Furga A, Kirschner J, Steinmann B, Baumgartner MR, Moroni I, Lamantea E, Zeviani M, Rodenburg RJ, Smeitink J, Strom TM, Meitinger T, Sperl W, Prokisch H: Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet, 2012; 90 (2): 314-320. : http://dx.doi.org/10.1016/j.ajhg.2011.12.005
- Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hovener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grunert SC: A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. J Inherit Metab Dis, 2018; 41 (2): 187-196. : http://dx.doi.org/10.1007/s10545-018-0138-7
- Mayr SJ, Sass JO, Vry J, Kirschner J, Mader I, Hovener JB, Reiss J, Santamaria-Araujo JA, Schwarz G, Grünert SC: A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation. J Inherit Metab Dis, 2018; 41 (2): 187-196. : http://dx.doi.org/10.1007/s10545-018-0138-7
- Mazereeuw-Hautier J, Hoeger PH, Benlahrech S, Ammour A, Broue P, Vial J, Chanessian G, Léauté-Labrèze C, Labenne M, Vabres P, Roessler J, Bodemer C: Efficacy of propranolol in hepatic infantile hemangiomas with diffuse neonatal hemangiomatosis. J Pediatr-us, 2010; 157 (2): 340-342.
- Mazurek M, Jakob A, Bossart P: Solute transport in crystalline rocks at Aspo-I: geological basis and model calibration. J Contam Hydrol, 2003; 61 (1-4): 157-174. : http://dx.doi.org/10.1016/S0169-7722(02)00137-7
- Mazzone E, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Stein S, De Sanctis R, D'Amico A, Palermo C, Fanelli L, Scoto MC, Mayhew A, Eagle M, Vigo M, Febrer A, Korinthenberg R, de Visser M, Bushby K, Muntoni F, Goemans N, Sormani MP, Bertini E, Pane M, Mercuri E: Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study. Neuromuscular Disord, 2013; 23 (8): 624-628.
- Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schäfer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E: Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients Neuromuscular Disord, 2014; 24: 347-352.
- McCarl CA, Picard C Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S: ORAI1 deficiency and lack of
store-operated Ca(2+) entry cause immunodeficiency, myopathy, and ectodermal dysplasia J Allergy Clin Immun, 2009; 124 (6): 1311-1318.
- McCormack P, Woods S, Aartsma-Rus A, Hagger L, Herczegfalvi A, Heslop E, Irwin J, Kirschner J, Moeschen P, Muntoni F, Ouillade MC, Rahbek J, Rehmann-Sutter C, Rouault F, Sejersen T, Vroom E, Straub V, Bushby K, Ferlini A: Guidance in social and ethical issues related to clinical, diagnostic care and novel therapies for hereditary neuromuscular rare diseases: "translating" the translational. PLoS Curr, 2013; 5 (online). : http://dx.doi.org/10.1371/currents.md.f90b49429fa814bd26c5b22b13d773ec
- McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, Heydemann P, Kaminska A, Kirschner J, Muntoni F, Osorio AN, Schara U, Sejersen T, Shieh PB, Sweeney HL, Topaloglu H, Tulinius M, Vilchez JJ, Voit T, Wong B, Elfring G, Kroger H, Luo X, McIntosh J, Ong T, Riebling P, Souza M, Spiegel RJ, Peltz SW, Mercuri E: Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet, 2017; 390 (10101): 1489-1498. : http://dx.doi.org/10.1016/S0140-6736(17)31611-2
- McDonald CM, Henricson EK, Abresch RT, Florence J, Eagle M, Gappmaier E, Glanzman AM, Spiegel R, Barth J, Elfring G, Reha A, Peltz SW: The 6-minute walk test and other clinical endpoints in duchenne muscular dystrophy: reliability, concurrent validity, and minimal clinically important differences from a multicenter study. Muscle Nerve, 2013; 48 (3): 357-368. : http://dx.doi.org/10.1002/mus.23905
- McDonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier E, Glanzman AM, Spiegel R, Barth J, Elfring G, Reha A, Peltz S: The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve, 2013; 48 (3): 343-356. : http://dx.doi.org/10.1002/mus.23902
- McDonald CM, Meier T, Voit T, Schara U, Straathof CS, D'Angelo MG, Bernert G, Cuisset JM, Finkel RS, Goemans N, Rummey C, Leinonen M, Spagnolo P, Buyse GM: Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy. Neuromuscular Disord, 2016; 26 (8): 473-480. : http://dx.doi.org/10.1016/j.nmd.2016.05.008
- McKenney D, Hübner J, Müller E, Wang Y, Goldmann DA, Pier GB: The ica locus of staphylococcus epidermidis production of the capsular polysaccharide/adhesin Infect Immun, 1998; 66 (10): 4711-4720.
- Mealy B: SPACE: a study on prevention of allergy in children in Europe. J. Asthma, 1998: 170-172.
- Meda Spaccamela V, Valencia RG, Pastukhov O, Duppenthaler A, Dettmer MS, Erb J, Steiner UC, Hillinger S, Speckmann C, Ehl S, Reichenbach J, Siler U: High Levels of IL-18 and IFN-gamma in Chronically Inflamed Tissue in Chronic Granulomatous Disease. Front Immunol, 2019; 10: 2236-2236. : http://dx.doi.org/10.3389/fimmu.2019.02236
- Medvedev AE, Henneke P, Schromm A, Lien E, Ingalls R, Fenton MJ, Golenbock DT, Vogel SN: Induction of tolerance to lipopolysaccharide and mycobacterial components in Chinese hamster ovary/CD14 cells is not affected by overexpression of Toll-like receptors 2 or 4. J Immunol, 2001; 167 (4): 2257-2267.
- Meerpohl JJ, Antes G, Rucker G, Fleeman N, Motschall E, Niemeyer CM, Bassler D: Deferasirox for managing iron overload in people with thalassaemia. Cochrane Db Syst Rev, 2012; 2 (online): CD007476. : http://dx.doi.org/10.1002/14651858.CD007476.pub2
- Meerpohl JJ, Antes G, Rücker G, Fleeman N, Niemeyer C, Bassler D: Deferasirox for managing transfusional iron overload in people with sickle cell disease. Cochrane Db Syst Rev, 2010; 8 (online): CD007477. : http://dx.doi.org/10.1002/14651858.CD007477.pub2
- Meerpohl JJ, Schell LK, Rücker G, Fleeman N, Motschall E, Niemeyer CM, Bassler D: Deferasirox for managing iron overload in people with myelodysplastic syndrome. Cochrane Db Syst Rev, 2014; 10 (online): CD007461. : http://dx.doi.org/10.1002/14651858.CD007461.pub3
- Meerpohl JJ, Schell LK, Rücker G, Motschall E, Fleeman N, Niemeyer CM, Bassler D: Deferasirox for managing transfusional iron overload in people with sickle cell disease. Cochrane Db Syst Rev, 2014; 5 (online): CD007477. : http://dx.doi.org/10.1002/14651858.CD007477.pub3.
- Meerpohl JJ, Wolff RF, Antes G, von Elm E: Are pediatric open access journals promoting good publication practice? an analysis of author instructions. BMC Pediatrics, 2011; 11 (online): 27. : http://dx.doi.org/10.1186/1471-2431-11-27
- Meerpohl JJ, Wolff RF, Niemeyer CM, Antes G, von Elm E: Editorial policies of pediatric journals: survey of instructions for authors. Arch Pediat Adol Med, 2010; 164 (3): 268-272.
- Mégarbané H, Jobard F, Sass JO, Schwonbeck S, Foglio M, de Cid R, Cure S, Saker S, Mégarbané A, Fischer J: An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism. J Invest Dermatol, 2009; 129 (7): 1650-1655. : http://10.1038/jid.2008.450
- Mehls O, Broyer M, Albertssonwikland K, Allen B, Baur L, Beetz R, Berg U, Bonzel K, Carrascosa A, Cowell C, Crawford B, Davin JC, Delvalle CJ, Dippell J, Garcia L, Gaskin K, Haffner D, Hodson EM, Janssen F, Jodal U: Growth response to recombinant human growth hormone in short prepubertal children with chronic renal failure with or without dialysis. Acta Paediatrica, 1994: 81-87.
- Mehls O, Haffner D, Wühl E, Schäfer F, Heinrich U, Bittner K, Ehrich JHH, Filler G, Gellermann J, Hampel H, Bachmann H, Ruder H, Bonzel KE, Scheller B, Dippel J, Zimmerhackl LB, Kreuder J, Rascher W, Müller-Wiefel DE, Misselwitz J: Growth hormone as a new treatment modality for short children with chronic renal failure. Horm Res, 1996; 46: 230-235.
- Mehwald PS, Rusk RA, Mori Y, Li XN, Zetts AD, Jones M, Sahn DJ: A validation study of aortic stroke volume using dynamic 4-dimensional color Doppler: An in vivo study. J Am Soc Echocardiog, 2002; 15 (10): 1045-1050.
- Meier CA, Fabbro D, Meyhack I, Hemmings B, Olbrecht U, Jakob A, Walter P: Effect of hypothyroidism and thyroid hormone replacement on the level of protein kinase C and protein kinase A in rat liver. Febs Lett, 1991; 282 (2): 397-400.
- Meier T, Rummey C, Leinonen M, Spagnolo P, Mayer OH, Buyse GM: Characterization of pulmonary function in 10-18 year old patients with Duchenne muscular dystrophy. Neuromuscular Disord, 2017; 27 (4): 307-314. : http://dx.doi.org/10.1016/j.nmd.2016.12.014
- Meij IC, Saar K, van den Heuvel LP, Nuernberg G, Vollmer M, Hildebrandt F, Reis A, Monnens LA, Knoers NV: Hereditary isolated renal magnesium loss maps to chromosome 11q23 Am J Hum Genet, 1998; 64: 180-188.
- Meij IC., Saar K., van den Heuvel LP., Nuernberg G., Vollmer M., Hildebrandt F., Reis A., Monnens LA., Knoers NV.: Hereditary isolated renal magnesium loss maps to chromosome 11q23. American Journal of Human Genetics, 1999; 64: 180-188.
- Meinert R., T. Frischer, W. Karmaus, J. Kuehr: Influence of skin prick test criteria on prevalence and incidence of allergic sensitization in children. Allergy, 1994; 49: 526-532.
- Meinertz T, Diegeler A, Stiller B, Fleck E, Heinemann MK, Schmaltz AA, Vestweber M, Bestehorn K, Beckmann A, Hamm C, Cremer J: German Heart Report 2013. Clin Res Cardiol, 2015; 104 (2): 112-123. : http://dx.doi.org/10.1007/s00392-014-0799-7
- Meinertz T, Diegeler A, Stiller B, Fleck E, Heinemann MK, Schmaltz AA, Vestweber M, Bestehorn K, Beckmann A, Hamm C, Cremer J: German Heart Report 2013. Thorac Cardiov Surg, 2015; 63 (2): 86-96. : http://dx.doi.org/10.1055/s-0034-1399762
- Meinhardt A, Burkhardt B, Zimmermann M, Borkhardt A, Kontny U, Klingebiel T, Berthold F, Janka G, Klein C, Kabickova E, Klapper W, Attarbaschi A, Schrappe M, Reiter A, Berlin-Frankfurt-Münster group: Phase II window study on rituximab in newly diagnosed pediatric mature B-cell non-Hodgkin's lymphoma and Burkitt leukemia. J Clin Oncol, 2010; 28 (19): 3115-3121.
- Meinicke H, Moske-Eick O, Sitzberger AN, Zieger B, Kirschner J: Anterior spinal artery syndrome in a 13-year-old boy 8 days after taekwondo-fight: vascular obliteration due to vessel lesion or thrombophilia? Klin Padiatr, 2011; 223 (3): 182-186. : http://dx.doi.org/10.1055/s-0031-1275311
- Meinicke H,, Moske-Eick O, Letzgus A,, Zieger B, Kirschner J: Anterior spinal artery syndrome in a 13-year-old adolescent after trauma in Taekwondo-Fight: Case report and review of literature. Manuskript eingereicht, 2010. (in Druck)
- Meinicke H,, Moske-Eick O, Sitzberger AN, Zieger B, Kirschner J.: Anterior spinal artery syndrome in a 13-year-old boy 8 days after taekwondo-fight: vascular obliteration due to vessel lesion or thrombophilia? Klin Padiatr, 2011; 223 (3): 182-186.
- Meisel R, Kuypers L, Dirksen U, Schubert R, Gruhn B, Strauss G, Beutel K, Groll AH, Duffner U, Blütters-Sawatzki R, Holter W, Feuchtinger T, Grüttner HP, Schroten H, Zielen S, Ohrmann C, Laws HJ, Dillo D, for the Impfung von Kindern nach allogener Stammzelltransplantation (IKAST) Study Group: Pneumococcal conjugate provides early protective antibody responses in children after related and unrelated allogeneic hematopoietic stem cell transplantation. Blood, 2007; 109 (6): 2322-2326.
- Meisel R, Kuypers L, Dirksen U, Schubert R, Gruhn G, Strauss G, Beutel K, Groll AH, Duffner U, Blütters-Sawatzki R, Holter W, Feuchtinger T, Grüttner HP, Schroten H, Zielen S, Ohmann C, Laws HJ, Dilloo D: Pneumococcal conjugate vaccine provides early protective antibody responses in children after related and unrelated allogeneic hematopoietic stem cell transplantation. Blood, 2006. (in Druck)
- Meissner PE, Jappe U, Niemeyer CM, Peters AM, Kulozik A, Zilow EP: Pyoderma gangrenosum, a rare, but potentially fatal complication in paediatric oncology patients Klin Padiatr, 2007; 219: 296-299.
- Melen E, Granell R, Kogevinas M, Strachan D, Gonzalez JR, Wjst M, Jarvis D, Ege M, Braun-Fahrlander C, Genuneit J, Horak E, Bouzigon E, Demenais F, Kauffmann F, Siroux V, Michel S, von Berg A, Heinzmann A, Kabesch M, Probst-Hensch NM, Curjuric I, Imboden M, Rochat T, Henderson J, Sterne JA, McArdle WL, Hui J, James AL, William Musk A, Palmer LJ, Becker A, Kozyrskyj AL, Chan-Young M, Park JE, Leung A, Daley D, Freidin MB, Deev IA, Ogorodova LM, Puzyrev VP, Celedon JC, Brehm JM, Cloutier MM, Canino G, Acosta-Perez E, Soto-Quiros M, Avila L, Bergstrom A, Magnusson J, Soderhall C, Kull I, Scholtens S, Marike Boezen H, Koppelman GH, Wijga AH, Marenholz I, Esparza-Gordillo J, Lau S, Lee YA, Standl M, Tiesler CM, Flexeder C, Heinrich J, Myers RA, Ober C, Nicolae DL, Farrall M, Kumar A, Moffatt MF, Cookson WO, Lasky-Su J: Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy, 2013; 43 (4): 463-474. : http://dx.doi.org/10.1111/cea.12054
- Meli M, Rauber-Luthy C, Hoffmann-Walbeck P, Reinecke HJ, Prasa D, Stedtler U, Farber E, Genser D, Kupferschmidt H, Kullak-Ublick GA, Ceschi A: Atypical antipsychotic poisoning in young children: a multicentre analysis of poisons centres data. Eur J Pediatr, 2014; 173 (6): 743-750. : http://dx.doi.org/10.1007/s00431-013-2241-y
- Melk A, Henne T, Kollmar T, Strehlau J, Latta K, Offner G, Jhangri GS, Ehrich JH, Von Schnakenburg C: Cytokine single nucleotide polymorphisms and intrarenal gene expression in chronic allograft nephropathy in children. Kidney Int, 2003; 64 (1): 314-320.
- Mendes MI, Colaco HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ: Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. J Inherit Metab Dis, 2014; 37 (2): 245-254. : http://dx.doi.org/10.1007/s10545-013-9647-6
- Mendes MI, Santos AS, Smith DE, Lino PR, Colaco HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P: Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. Hum Mutat, 2014; 35 (10): 1195-1202. : http://dx.doi.org/10.1002/humu.22616
- Merchant M, Yang X, Melchionda F, Romero M, Klein R, Thiele C, Tsokos M, Kontny U, Mackall C: Interferon gamma enhances the effectiveness of TRAIL receptor agonists in a xenograft model of Ewings's sarcoma Cancer Res, 2004; 64: 849-8356.
- Mercuri E, Darras BT, Chiriboga CA, Day JW, Campbell C, Connolly AM, Iannaccone ST, Kirschner J, Kuntz NL, Saito K, Shieh PB, Tulinius M, Mazzone ES, Montes J, Bishop KM, Yang Q, Foster R, Gheuens S, Bennett CF, Farwell W, Schneider E, De Vivo DC, Finkel RS: Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy. New Engl J Med, 2018; 378 (7): 625-635. : http://dx.doi.org/10.1056/NEJMoa1710504
- Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T: Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disord, 2018; 28 (2): 103-115. : http://dx.doi.org/10.1016/j.nmd.2017.11.005
- Messroghli DR, Pickardt T, Fischer M, Opgen-Rhein B, Papakostas K, Bocker D, Jakob A, Khalil M, Mueller GC, Schmidt F, Kaestner M, Udink Ten Cate FEA, Wagner R, Ruf B, Kiski D, Wiegand G, Degener F, Bauer UMM, Friede T, Schubert S: Toward evidence-based diagnosis of myocarditis in children and adolescents: Rationale, design, and first baseline data of MYKKE, a multicenter registry and study platform. Am Heart J, 2017; 187: 133-144. : http://dx.doi.org/10.1016/j.ahj.2017.02.027
- Metzler M, Staege MS, Harder L, Mendelova D, Zuna J, Frankova E, Meyer C, Flohr T, Bednarova D, Harbott J, Langer T, Gesk S, Trka J, Siebert R, Dingermann T, Marschalek R, Niemeyer C, Rascher W: Inv(11)(q21q23) fuses MLL to the notch co-activator mastermind-like 2 in secondary T-cell acute lymphoblastic leukemia. (Corrigendum p 1812) Leukemia, 2008; 22 (9): 1807-1811.
- Metzler M, Strissel PL, Strick R, Niemeyer C, Roettgers S, Borkhardt A, Harbott J, Ludwig WD, Stanulla M, Schrappe M, Reinhardt D, Creutzig U, Beck JD, Rascher W, Repp R, Langer T: Emergence of translocation t(9;11)-positive leukemia during treatment of childhood acute lymphoblastic leukemia. Gene Chromosome Canc, 2004; 41 (3): 291-296.
- Meyburg J, Opladen T, Spiekerkotter U, Schlune A, Schenk JP, Schmidt J, Weitz J, Okun J, Burger F, Omran TB, Abdoh G, Al Rifai H, Monavari A, Konstantopoulou V, Kolker S, Yudkoff M, Hoffmann GF: Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders. J Inherit Metab Dis, 2018; 41 (1): 81-90. : http://dx.doi.org/10.1007/s10545-017-0097-4
- Meyer-Koenig U, Hufert F, Duffner U, Neumann-Haefelin, Henschen M: G-CSF-mobilised granulocyte transfusion to an ALL patient complicated by cytomegalovirus transmission Bone Marrow Transpl, 2004; 34: 1095-1096.
- Meyer-Koenig U., Hufert F.T., Duffner U., Neumann-Haefelin D., Henschen M: G-CSF-mobilised granulocyte transfusion to an ALL patient complicated by cytomegalovirus transmission. Bone Marrow Transpl, 2004; 34 (12): 1095-1096.
- Meyer S, Bristow C, Wappett M, Pepper S, Whetton AD, Hanenberg H, Neitzel H, Wlodarski MW, Ebell W, Tönnies H: Fanconi anemia (FA)-associatred 3q gains in leukemic transformation consistently target EVI1, but do not affect low TERC expression in FA. Blood, 2011; 117 (22): 6047-6050.
- Michaelis R, Michaelis U: Evidence-based Medicine bei Kindern mit Cerebralparesen Kinderärztliche Praxis, 2001; 1: 12-16.
- Michelfelder S, Fischer F, Waldin A, Horle KV, Pohl M, Parsons J, Reski R, Decker EL, Zipfel PF, Skerka C, Haeffner K: The MFHR1 Fusion Protein Is a Novel Synthetic Multitarget Complement Inhibitor with Therapeutic Potential. J Am Soc Nephrol, 2018; 29 (4): 1141-1153. : http://dx.doi.org/10.1681/ASN.2017070738
- Michelfelder S, Parsons J, Bohlender LL, Hoernstein SNW, Niederkruger H, Busch A, Krieghoff N, Koch J, Fode B, Schaaf A, Frischmuth T, Pohl M, Zipfel PF, Reski R, Decker EL, Häffner K: Moss-Produced, Glycosylation-Optimized Human Factor H for Therapeutic Application in Complement Disorders. J Am Soc Nephrol, 2017; 28 (5): 1462-1474. : http://dx.doi.org/10.1681/ASN.2015070745
- Michel S, Liang L, Depner M, Klopp N, Ruether A, Kumar A, Schedel M, Vogelberg C, von Mutius E, von Berg A, Bufe A, Rietschel E, Heinzmann A, Laub O, Simma B, Frischer T, Genuneit J, Gut IG, Schreiber S, Lathrop M, Illig T, Kabesch M: Unifying candidate gene and GWAS Approaches in Asthma. Plos One, 2010; 5 (11) (online): e13894. : http://dx.doi.org/10.1371/journal.pone.0013894
- Miera O, Schmitt KL, Akintuerk H, Boet A, Cesnjevar R, Chila T, Fleck T, Goldwasser R, Guereta LG, Heineking B, Hoerer J, Horke A, Hsia TY, Huebler M, Kansy A, Karimova A, Maruszewski B, Medrano C, Pawlak S, Reinhardt Z, Romlin B, Sandica E, Schmidt F, Schramm R, Schweiger M, Sliwka J, Stiller B, Thul J, Amodeo A: Antithrombotic therapy in pediatric ventricular assist devices: Multicenter survey of the European EXCOR Pediatric Investigator Group. Int J Artif Organs, 2018; 41 (7): 385-392. : http://dx.doi.org/10.1177/0391398818773040
- Mild GC, Schmahl GE, Shayan P, Niemeyer CM: Expression of interferon regulatory factor 1 and 2 in hematopoietic cells of children with juvenile myelomonocytic leukemia. Leuk Lymphoma, 1999; 35 (5-6): 507-511. : http://dx.doi.org/10.1080/10428199909169615
- Mild GC., SchmahlGE., Shayan P., Niemeyer CM.: Expression of interferon regulatory factor 1 and 2 in hematopoietic cells of children with juvenile myelomonocytic leukemia. Leuk. Lymph., 1999; 35(5-6): 507-511.
- Miller E, Blaser S, Miller S, Keating S, Thompson M, Unger S, Toi A, Berger H, Chong K: Fetal MR imaging of atelosteogenesis type II (AO-II). Pediatr Radiol, 2008; 38 (12): 1345-1349. : http://dx.doi.org/10.1007/s00247-008-0974-y
- Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT: Mutations in antiquitin in individuals with pyridoxine-dependent seizures Nat Med, 2006; 12 (3): 307-309.
- Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Gungor T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Doffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C: Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood, 2017; 130 (12): 1456-1467. : http://dx.doi.org/10.1182/blood-2017-03-771600
- Mishra OP, Abhinay A, Mishra RN, Prasad R, Pohl M: Can We Predict Relapses in Children with Idiopathic Steroid-Sensitive Nephrotic Syndrome? J Trop Pediatrics, 2013; 59 (5): 343-349. : http://dx.doi.org/10.1093/tropej/fmt029
- Mishra OP, Singh AK, Pohl M, Kumar B, Batra VV, Narayan G: Oral galactose in children with focal and segmental glomerulosclerosis: a novel adjunct therapy. Clin Kidney J, 2014; 7 (1): 83-85. : http://dx.doi.org/10.1093/ckj/sft147
- Mitchell L, Sutor AH, Andrew M: Hemostasis in childhood acute lymphoblastic leukemia: Coagulopathy induced by disease and treatment. Sem Thromb Hemostas, 1995; 21: 390-401.
- Mittelbronn, Michel, Hanisch F, Gleichmann M, Stötter M, Korinthenberg R, Wehnert M, Bonne G, Rudnik-Schöneborn S, Bornemann A: Myofiber Degeneration in Autosomal dominant Emery-Dreifuss Muscular Dystrophy (AD-EDMD) (LGMD1B) Brain Pathol, 2006; 16 (4): 266-272.
- Mocellin R: A practical and transferable new protocol for treadmill testing of children and adults? Cardiol Young, 2009; 19 (6): 655-6; author reply 657. : http://dx.doi.org/10.1017/S1047951109991090
- Mocellin R, Gildein P: Comparison of the velocity of oxygen uptake response at the onset of exercise between children after cardiac surgery and healthy boys. Pediatr Cardiol, 1998. (in Druck)
- Moffatt MF, Kabesch M, Liang L, Dixon AL, Strachan D, Heath S, Depner M, von Berg A, Bufe A,, Rietschel E,, Heinzmann A,, Simma B, Frischer T, Willis-Owen SA, Wong KC,, Illig T, Vogelberg C, Weiland SK, von Mutius E, Abecasis GR, Farrall M, Gut IG, Lathrop GM, Cookson WO.: Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma.
Nature, 2007; 448 (7152): 470-473.
- Mohamed AD, Shah N, Hettmer S, Vargesson N, Wackerhage H: Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. Sci Rep-uk, 2018; 8 (1): 15674. : http://dx.doi.org/10.1038/s41598-018-33852-7
- Mohammed SG, Arjona FJ, Verschuren EHJ, Bakey Z, Alkema W, van Hijum S, Schmidts M, Bindels RJM, Hoenderop JGJ: Primary cilia-regulated transcriptome in the renal collecting duct. Faseb J, 2018; 32 (7): 3653-3668. : http://dx.doi.org/10.1096/fj.201701228R
- Mohan SR, Clemente MJ, Afable M, Cazzoli HN, Bejanyan N, Wlodarski MW, Lichtin AE, Maciejewski JP: Therapeutic implication of variable exprexpression of CD52 on clonal cytotoxic T-cells in CD8+ large granular lymphocyte leukemia. Haematol-hematol J, 2009; 94 (10): 1407-1414.
- Mohrmann M, Hentschel R, Böhler T, Dirschedl P: Die Neugeborenensepsis im DRG-System. Z Geburtsh Neonatol, 2006; 210 (6): 213-218.
- Moller JC, Schaible T, Roll C, Schiffmann JH, Bindl L, Schrod L, Reiss I, Kohl M, Demirakca S, Hentschel R, Paul T, Vierzig A, Groneck P, von Seefeld H, Schumacher H, Gortner L; Surfactant ARDS Study Group.: Treatment with bovine surfactant in severe acute respiratory distress syndrome in children: a randomized multicenter study. Intens Care Med, 2003; 29: 437-446.
- Moller RS, Wuttke TV, Helbig I, Marini C, Johannesen KM, Brilstra EH, Vaher U, Borggraefe I, Talvik I, Talvik T, Kluger G, Francois LL, Lesca G, de Bellescize J, Blichfeldt S, Chatron N, Holert N, Jacobs J, Swinkels M, Betzler C, Syrbe S, Nikanorova M, Myers CT, Larsen LH, Vejzovic S, Pendziwiat M, von Spiczak S, Hopkins S, Dubbs H, Mang Y, Mukhin K, Holthausen H, van Gassen KL, Dahl HA, Tommerup N, Mefford HC, Rubboli G, Guerrini R, Lemke JR, Lerche H, Muhle H, Maljevic S: Mutations in GABRB3: From febrile seizures to epileptic encephalopathies. Neurology, 2017; 88 (5): 483-492. : http://dx.doi.org/10.1212/WNL.0000000000003565
- Möllmann C,, Weinmann W, Cavelius C, Krüger M.: [Analgesia for pediatric patients. Standards and special aspects]. Medizinische Monatsschrift für Pharmazeuten, 2011; 34 (1): 17-25.
- Momeni A, Tacke U, Korinthenberg R, Stark GB, Bannasch H: Plastisch-chirurgische Optionen zur Behandlung des Möbius-Syndroms Neuropädiatrie in Klinik und Praxis, 2009; 1: 17-19.
- Montag C, Eichner M, Markett S, Quesada CM, Schoene-Bake JC, Melchers M, Plieger T, Weber B, Reuter M: An interaction of a NR3C1 polymorphism and antenatal solar activity impacts both hippocampus volume and neuroticism in adulthood. Front Hum Neurosci, 2013; 7: 243-243. : http://dx.doi.org/10.3389/fnhum.2013.00243
- Montag C,, Schoene-Bake JC, Wagner J, Reuter M, Markett S, Weber B, Quesada CM: Volumetric hemispheric ratio as a useful tool in personality psychology Neurosci Res, 2012. : http://doi:pii: S0168-0102(12)00225-8. 10.1016/j.neures.2012.11.004 (in Druck)
- Montag C, Reuter M, Weber B, Markett S,, Schoene-Bake JC: Individual differences in trait anxiety are associated with white matter tract integrity in the left temporal lobe in healthy males but not females. Neuroscience, 2012; 217: 77-83.
- Morello R,, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P,, Chen Y,, Zabel B,, Lee B.: Brachy-syndactyly caused by loss of Sfrp2 function. J Cell Physiol, 2008; 217 (1): 127-137.
- Möricke A, Reiter A, Zimmermann M, Gadner H, Stanulla M, Dördelmann M, Löning L, Beier R, Ludwig WD, Ratei R, Harbott J, Boos J, Mann G, Niggli F, Feldges A, Henze G, Welte K, Beck JD, Klingebiel T, Niemeyer C, Zintl F, Bode U, Urban C, Wehinger H, Niethammer D, Riehm H, Schrappe M, for the German-Austrian-Swiss ALL-BFM Study Group: Risk-adjusted therapy of acute lymphoblastic leukemia can decrease treatment burden and improve survival: treatment results of 2169 unselected pediatric and adolescent patients enrolled in the trial ALL-BFM 95. Blood, 2008; 111 (9): 4477-4489.
- Möricke A, Zimmermann M, Reiter A, Henze G, Schrauder A, Gadner H, Ludwig WD, Ritter J, Harbott J, Mann G, Klingebiel T, Zintl F, Niemeyer C, Kremens B, Niggli F, Niethammer D, Welte K, Stanulla M, Odenwald E, Riehm H, Schrappe M: Long-term results of five consecutive trials in childhood acute lymphoblastic leukemia performed by the ALL-BFM study grozp from 1981 to 2000. Leukemia, 2010; 24: 265-284.
- Morillo-Gutierrez B, Beier R, Rao K, Burroughs L, Schulz A, Ewins AM, Gibson B, Sedlacek P, Krol L, Strahm B, Zaidman I, Kalwak K, Talano JA, Woolfrey A, Fraser C, Meyts I, Muller I, Wachowiak J, Bernardo ME, Veys P, Sykora KW, Gennery AR, Slatter M: Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience. Blood, 2016; 128 (3): 440-448. : http://dx.doi.org/10.1182/blood-2016-03-704015
- Morris-Rosendahl DJ, Najm J, Lachmeijer AM, Sztriha L, Martins M, Kuechler A, Haug V, Zeschnigk C, Martin P, Santos M, Vasconcelos C, Omran H, Kraus U, Van der Knaap MS, Schuierer G, Kutsche K, Uyanik G: Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly Clin Genet, 2008; 74 (5): 425-433.
- Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B, Baumgartner MR: A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. Mol Genet Metab, 2011. : http://dx.doi.org/10.1016/j.ymgme.2011.12.018 (in Druck)
- Moseler M., A. Hendel-Kramer, W. Karmaus, J., Forster, K. Weiss, R. Urbanek, J. Kuehr: Effect of NO2 air pollution on the lung function of children with asthmatic. Environm Res, 1994; 67: 109-124.
- Moske-Eick O, Taschner CA, Krauss S, Kirschner J, van Velthoven V, Rottenburger C, Roessler J, Prinz M: Freiburg neuropathology case conference: an intrameduallary mas lesion in a child. Clin Neuroradiol, 2010; 20 (2): 135-139.
- Moske-Eick O, Taschner CA, Krauss S, Kirschner J, van Velthoven V, Rottenburger C, Rössler J, Prinz M: Freiburg neuropathology case conference: an intramedullary mass lesion in a child.
Clin Neuroradiol, 2010; 20: 135-139.
- Mothes R, Ruffer T, Shen Y, Jakob A, Walfort B, Petzold H, Schulz SE, Ecke R, Gessner T, Lang H: Phosphite copper(I) trifluoroacetates [((RO)3P)mCuO2CCF3] (m = 1, 2, 3): synthesis, solid state structures and their potential use as CVD precursors. Dalton T, 2010; 39 (46): 11235-11247. : http://dx.doi.org/10.1039/c0dt00347f
- Mrusek S, Kruger M, Greiner P, Kleinschmidt M, Brandis M, Ehl S: Henoch-Schonlein purpura. Lancet, 2004; 363 (9415): 1116-1116. : http://dx.doi.org/10.1016/S0140-6736(04)15895-9
- Mrusek S, Marx A, Kummerle-Deschner J, Tzaribachev N, Enders A, Riede UN, Warnatz K, Dannecker GE, Ehl S: Development of granulomatous common variable immunodeficiency subsequent to infection with Toxoplasma gondii. Clin Exp Immunol, 2004; 137 (3): 578-583. : http://dx.doi.org/10.1111/j.1365-2249.2004.02558.x
- Mrusek S, Vallbracht S, Ehl S: The impact of splenectomy on antiviral T cell memory in mice. Int Immunol, 2005; 17 (1): 27-33.
- Mrusek S, Vallbracht S, Ehl S: The impact of splenectomy on antiviral T cell memory in mice. Int Immunol, 2005; 17 (1): 27-33. : http://dx.doi.org/10.1093/intimm/dxh182
- Muche-Borowski C, Kopp M, Reese I, Sitter H, Werfel T, Schäfer T: Allergy prevention. Journal der Deutschen Dermatologischen Gesellschaft, 2010; 8 (9): 718-724. : http://dx.doi.org/10.1111/j.1610-0387.2009.07313.x
- Muche-Borowski C,, Kopp M,, Reese I, Sitter H,, Werfel T, Schäfer T.: Allergy prevention Dtsch Arztebl Int, 2009; 196 (39): 625-631.
- Mueller M, Rentzsch A, Hoetzer K, Raedle-Hurst T, Boettler P, Stiller B, Lemmer J, Sarikouch S, Beerbaum P, Peters B, Vogt M, Vogel M, Abdul-Khaliq H: Assessment of interventricular and right-intraventricular dyssynchrony in patients with surgically repaired tetralogy of Fallot by two-dimensional speckle tracking. Eur J Echocardiogr, 2010; 11 (9): 786-792. : http://dx.doi.org/10.1093/ejechocard/jeq067
- Mufti GJ, Bennett JM, Goasguen J, Bain BJ, Baumann I, Brunning R, Cazzola M, Fenaux P, Germing U, Hellstrom-Lindberg E, Jinnai I, Manabe A, Matsuda A, Niemeyer CM, Sanz G, Tomonaga M, Vallespi T, Yoshimi A: Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica, 2008; 93 (11): 1712-1717. : http://dx.doi.org/10.3324/haematol.13405
- Müller A,, Kaiser P, Töpfner N, Berner R, Laws H-J, Knorr M,, Hufnagel M,, Beyersdorff A, Heister P, Becker C, Liese JG, Tenenbaum T: Das Paed IC Projekt – Antibiotic Stewardship und Infektionsprävention zur Vermeidung von nosokomialen Infektionen durch resistente Infektionserreger / The Paed IC project – Antibiotic stewardship and hospital hygiene to prevent infection with resistant pathogens. Klin Padiatr, 2013; 225: 93-95.
- Müller C, Weiß U, von Schnakenburg C, Hentschel R: Bedeutung der DRG-Vergütung für die Neonatologie - Beispielhafte Berechnungen eines Perinatalzentrums anhand der Fallzahlen des Jahres 2003. Monatsschr Kinderh, 2007; 155: 947-953.
- Muller D, Angerer V, Kithinji J, Auwarter V, Neurath H, Liebetrau G, Just S, Hermanns-Clausen M: [Desoxypipradrol - a new (already well known) designer drug]. Deut Med Wochenschr, 2016; 141 (13): 951-953. : http://dx.doi.org/10.1055/s-0042-107537
- Muller D, Weinmann W, Hermanns-Clausen M: Chinese slimming capsules containing sibutramine sold over the Internet: a case series. Dtsch Arztebl Int, 2009; 106 (13): 218-222. : http://dx.doi.org/10.3238/arztebl.2009.0218
- MÜLLER-FERBER W, SCHLOTTER B, TÖPFER M, KETELSEN U-P, MÜLLER-HÖCKER J, PONGRATZ D: Phenotypic variability in two brothers with sarcotubular myopathy J. Neurol., 1999; 246: 408-411.
- Müller H, Greiner P, Brandis M: Gallensteine im Säuglingsalter. Monatsschr Kinderheilkd, 1994; 142: 603-608.
- Müller H.L., Bueb K, Bartels U, Roth C, Harz K, Graf N, Korinthenberg R, Bettendorf M, Kühl J, Gutjahr P, Sörensen N, Calaminus G: Obesity after childhood craniopharyngioma - German muilticenter study on pre-operative risk factors and quality of life Klin Padiatr, 2001; 213: 244-249.
- Müller K, Scheithauer H, Pietschmann S, Hoffmann M, Rössler J, Graf N, Baumert BG, Christiansen H, Kortmann RD, Kramm CM, van Bueren AO: Reirradiation as part of a salvage treatment approach for progressive non-pontine pediatric high-grade gliomas: preliminary experiences from the German HIT-HGG study group. Radiat Oncol, 2014; 9: 177-185. : http://dx.doi.org/10.1186/1748-717X-9-177
- Muller S, Faulhaber A, Sieber C, Pfeifer D, Hochberg T, Gansz M, Deshmukh SD, Dauth S, Brix K, Saftig P, Peters C, Henneke P, Reinheckel T: The endolysosomal cysteine cathepsins L and K are involved in macrophage-mediated clearance of Staphylococcus aureus and the concomitant cytokine induction. Faseb J, 2014; 28 (1): 162-175. : http://dx.doi.org/10.1096/fj.13-232272
- Muller-Tidow C, Klein HU, Hascher A, Isken F, Tickenbrock L, Thoennissen N, Agrawal-Singh S, Tschanter P, Disselhoff C, Wang Y, Becker A, Thiede C, Ehninger G, zur Stadt U, Koschmieder S, Seidl M, Muller FU, Schmitz W, Schlenke P, McClelland M, Berdel WE, Dugas M, Serve H: Profiling of histone H3 lysine 9 trimethylation levels predicts transcription factor activity and survival in acute myeloid leukemia. Blood, 2010; 116 (18): 3564-3571. : http://dx.doi.org/10.1182/blood-2009-09-240978
- Muramatsu H, Kojima S, Yoshimi A, Atsuta Y, Kato K, Nagatoshi Y, Inoue M, Koike K, Kawase T, Ito M, Kurosawa H, Tanizawa A, Tono C, Hamamoto K, Hotta N, Watanabe A, Morishima Y, Kawa K, Shimada H: Outcome of 125 children with CML who received transplants from unrelated donors: the Japan Marrow Donor Program (JMDP). Biol Blood Marrow Tr, 2010; 16 (2): 231-238. : http://dx.doi.org/10.1016/j.bbmt.2009.09.022
- Murgueitio MS, Ebner S, Hortnagl P, Rakers C, Bruckner R, Henneke P, Wolber G, Santos-Sierra S: Enhanced immunostimulatory activity of in silico discovered agonists of Toll-like receptor 2 (TLR2). Bba-gen Subjects, 2017; 1861 (11 Pt A): 2680-2689. : http://dx.doi.org/10.1016/j.bbagen.2017.07.011
- N.Gordjani, M.Mohrmann, B.Schönfeld, M.Brandis: Aktivität des Natrium-Protonen Austauschers bei LLC-PK1 Zellen unter dem Einfluß von Cyclosporin A und FK-506. 1995.
- N.Gordjani, R.Burghard, D.Müller, H.Mathäi, J.U.Leititis, M.Brandis: Urinary excretion of adenosine deaminase binding protein in neonates treated with tobramycine. Pediatric Nephrology, 1995; 9: 419-422.
- Nagashima M, Shin'oka T, Nollert G, Shum-Tim D, Hickey P, Roth S J, Kirchhoff A, Springer TA, Burke P, Mayer Jr JE: Effects of a monoclonal antibody to p-selectin on recovery of neonatal lamb hearts after cold cardioplegic ischemia Ciruculation, 1998; 391-398.
- Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP: Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes. Blood, 2018; 132 (21): 2309-2313. : http://dx.doi.org/10.1182/blood-2017-05-787390
- Nagdyman N, Ewert P, Schmitt K, Hubler M, Stiller B, Muller C, Berger F: Protein S-100 is present in extracerebral fluids before and after cardiac surgery in children. Ann Clin Biochem, 2008; 45 (Pt 4): 409-412. : http://dx.doi.org/10.1258/acb.2008.007251
- Nagy M, Mastenbroek TG, Mattheij NJA, de Witt S, Clemetson KJ, Kirschner J, Schulz AS, Vraetz T, Speckmann C, Braun A, Cosemans JMEM, Zieger B, Heemskerk JWM: Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies. Haematologica, 2018; 103 (3): 540-549. : http://dx.doi.org/10.3324/haematol.2017.176974
- Najafi M, Kordi-Tamandani DM, Behjati F, Sadeghi-Bojd S, Bakey Z, Karimiani EG, Schule I, Azarfar A, Schmidts M: Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. Orphanet J Rare Dis, 2019; 14 (1) (online): 41-41. : http://dx.doi.org/10.1186/s13023-018-0981-5
- Najafi M, Tamandani DMK, Azarfar A, Bakey Z, Behjati F, Antony D, Schule I, Sadeghi-Bojd S, Karimiani EG, Schmidts M: A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. Front Pediatr, 2019; 7 (online): 89-89. : http://dx.doi.org/10.3389/fped.2019.00089
- Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S: Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet, 2013; 92 (6): 927-934. : http://dx.doi.org/10.1016/j.ajhg.2013.04.003
- Nakamura L, Bertling A, Brodde MF, Zur Stadt U, Schulz AS, Ammann S, Sandrock-Lang K, Beutel K, Zieger B, Kehrel BE: First characterization of platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 3 (FHL-3). Blood, 2015; 125 (2): 412-414. : http://dx.doi.org/10.1182/blood-2014-07-587568
- Nakamura L, Sandrock-Lang K, Speckmann C, Vraetz T, Buhrlen M, Ehl S, Heemskerk JW, Zieger B: Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency. Blood, 2013; 122 (22): 3696-3698. : http://dx.doi.org/10.1182/blood-2013-08-522037
- Nakamura L, Sandrock-Lang K, Speckmann C, Vraetz T, Bührlen M, Ehl S, Heemskerk JW, Zieger B: Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency. Blood, 2013; 122 (22): 3696-3698. : http://doi: 10.1182/blood-2013-08-522037
- Nakamura M,, Yuichiro Y, Sass JO,, Tomohiro M, Schwab KO,, Takeshi N, Tatsuo H, Ichida K: Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child. Clin Chim Acta, 2012; 414: 158-160. : http://doi: 10.1016/j.cca.2012.08.011.
- Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Veerle R, Eggens C, Krägeloh-Mann I, De Meirleir L, King M, Graham jr JM, von Moers A, Knoers N, Sztriha L, Korinthenberg R, PCH Consortium, Dobyns WB, Baas F, Poll-The B: Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain, 2011; 134: 143-156. : http://dx.doi.org/10.1093/brain/awq287
- Naouri M, Schill T, Maruani A, Bross F, Lorette G, Roessler J: Successful treatment of ulcerated haemangioma with propranolol. J Eur Acad Dermatol, 2010; 24 (9): 1109-1112.
- Netzer N, Werner P, Korinthenberg R, Matthys H: Nasale BiPAP-Beatmung im kontrollierten Atemmodus bei neuromuskulären Erkrankungen und schwerer Kyphoskoliose. Pneumologie, 1995; 49: 161-164.
- Neu A, Ehehalt S, Feldhahn LM, Kehrer M, Willasch AM, Hub R, Ranke MB für die DIARY Group Baden-Württemberg: Diabeteshäufigkeit bei Kindern und Jugendlichen in Deutschland – 20 Jahre Diabetes-Inzidenzregister Baden-Württemberg. Diabetologie und Stoffwechsel, 2008; 3: 309-313.
- Neu A, Feldhahn L, Ehehalt S, Hub R, Ranke MB, DIARY group Baden-Württemberg: Type 2 diabetes mellitus in children and adolescents is still a rare disease in Germany: a population-based assessment of the prevalence of type 2 diabetes and MODY in patients aged 0-20 years. Pediatr Diabetes, 2009; 10 (7): 468-473. : http://dx.doi.org/10.1111/j.1399-5448.2009.00528.x
- Neubauer K, Boeckelmann D, Koehler U, Kracht J, Kirschner J, Pendziwiat M, Zieger B: Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study. Cytoskeleton (Hoboken), 2018. : http://dx.doi.org/10.1002/cm.21479 (in Druck)
- Neubauer K, Boeckelmann D, Koehler U, Kracht J, Kirschner J, Pendziwiat M, Zieger B: Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study. Cytoskeleton (Hoboken), 2018. : http://dx.doi.org/10.1002/cm.21479 (in Druck)
- Neubauer K, Boeckelmann D, Koehler U, Kracht J, Kirschner J, Pendziwiat M, Zieger B: Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study. Cytoskeleton (Hoboken), 2019; 76 (1): 131-136. : http://dx.doi.org/10.1002/cm.21479
- Neubauer K, Neubauer B, Seidl M, Zieger B: Characterization of septin expression in normal and fibrotic kidneys. Cytoskeleton (Hoboken), 2018. : http://dx.doi.org/10.1002/cm.21473 (in Druck)
- Neubauer K, Neubauer B, Seidl M, Zieger B: Characterization of septin expression in normal and fibrotic kidneys. Cytoskeleton (Hoboken), 2019; 76 (1): 143-153. : http://dx.doi.org/10.1002/cm.21473
- Neubauer K, Zieger B: The Mammalian Septin Interactome. Front Cell Dev Biol, 2017; 5: 3-3. : http://dx.doi.org/10.3389/fcell.2017.00003
- Neukamm MA, Vogt S, Hermanns-Clausen M, Naue J, Thierauf A, Auwarter V: Fatal doxepin intoxication - Suicide or slow gradual intoxication? Forensic Sci Int, 2013; 227 (1-3): 82-84. : http://dx.doi.org/10.1016/j.forsciint.2012.08.050 (download: http://www.sciencedirect.com/science/article/pii/S0379073812004379)
- Neumann HPH, Zäuner I, Strahm B, Bender BU, Schollmeyer P, Blum U, Rohrbach R, Hildebrandt F: Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. Nephrol Dial Transplant, 1997; 12: 1242-1246.
- Neupert T, Ihorst G, Karmaus W, Frischer T, Kopp M, Ulmer C, Schwöbel B, Forster J, Kühr J: Asthma und asthmatypische Beschwerden bei Schulkindern. Vergleich von Gebieten in Deutschland und Österreich. Z. Gesundheitswissenschaften, 1997; 5: 63-75.
- Ngoumou G, Schaefer D, Mattes J, Kopp MV: Interleukin-18 enhances the production of interferon-gamma (IFN-gamma) by allergen-specific and unspecific stimulated cord blood mononuclear cells. Cytokine, 2004; 25 (4): 172-178.
- Nguyen-Thanh T, Reisert M, Anastasopoulos C, Hamzei F, Reitmeier T, Vry MS, Kiselev VG, Weyerbrock A, Mader I: Global Tracking in Human Gliomas: A Comparison with Established Tracking Methods. Clin Neuroradiol, 2013; 23 (4): 263-275.
- Niaudet P, Fuchshuber A, Gagnadoux MF, Habib R, Broyer M: Cyclosporin in the therapy of steroid-resistant idiopathic syndrome. Kidney Int., 1997; 51 (Suppl. 58): 85-90.
- Nickel R, Wahn U, Hizawa, Maestr N, Duffy DD, Barnes KC, Beyer K, Forster J, Bergmann R, Zepp F, Wahn V, Marsh DG: Evidence for linkage of chromosome 12q15-q24.1 markers to high total serum IgE concentrations in children of the German Multicenter Allergy Study Genomics, 1997; 46: 159-162.
- Nickel R, Haider A, Sengler C, Lau S, Niggemann B, Deichmann KA, Wahn U, Heinzmann A; MAS-Study Group: Association study of Glutathione S-transferase P1 (GSTP1) with asthma and bronchial hyper-responsiveness in two German pediatric populations. Pediatr Allergy Immu, 2005; 16 (6): 539-541.
- Nickel R., Kulig M., Forster J., Bergmann R., Bauer C.P., Lau S., Guggenmoos-Holzmann I., Wahn U.: Sensitization to hen´s egg ath the age of 12 months is predictive for allergicsensitization to common indoor allergens at the age of three years. J. Allergy Clin. Immunol., 1997; 99: 613-617.
- Nickel R., Wahn U., Barnes K., Beyer K., Forstert J., Bergmann R., Zepp F., V. Wahn, Hizawa N., Maestri N., Marsh D.: Evidence for linkage of chromosome 12q15-q24.1 markers and high total serum IgE concentrations in children of the German Multicenter Allergy Study (MAS `90). Genomics, 1997; 46: 159-162.
- Nickel T, Heinen F, Scheidt CE, Rayki O, Wissel J: Spasmodic torticollis - a multicentre study on behavioural aspects.III. Psychosocial changes and coping Behav Neurol, 1996; 9: 89-95.
- Niedan S, Kauer M, Aryee DN, Kofler R, Schwentner R, Meier A, Potschger U, Kontny U, Kovar H: Suppression of FOXO1 is responsible for a growth regulatory repressive transcriptional sub-signature of EWS-FLI1 in Ewing sarcoma. Oncogene, 2014; 33: 3927-3938. : http://dx.doi.org/10.1038/onc.2013.361
- Niemeyer C: Die Familie der Ewing-Sarkome Deutscher Ärzteverlag, 1998: 443-451.
- Niemeyer C, Arico M, Biondi A, Basso G, Cantu R, Creutzig U, Haas O, Harbott J, Hasle H, Kerndrup G, Locatelli F, Mann G, Stollmann-Gibbels B, van't Veer-Korthof ET, van Wering E, Zimmermann M: Chronic melomonocytic leukemia in childhood: a retrospective analysis of 110 cases. Blood, 1997; 89: 3534-3543.
- Niemeyer CM: JMML genomics and decisions. Hematol-am Soc Hemat, 2018; 2018 (1): 307-312. : http://dx.doi.org/10.1182/asheducation-2018.1.307 (download: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245977/)
- Niemeyer CM, Arico M, Basso G, Biondi A, Cantu Rajnoldi A, Creutzig U, Haas O, Harbott J, Hasle H, Kerndrup G, Locatelli F, Mann G, Stollmann-Gibbels B, van't Veer-Korthof ET, van Wering E, Zimmermann M: Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS) Blood, 1997; 89 (10): 3534-3543.
- Niemeyer CM, Baumann I: Myelodysplastic syndrome in children and adolescents. Semin Hematol, 2008; 45 (1): 60-70. : http://dx.doi.org/10.1053/j.seminhematol.2007.10.006
- Niemeyer CM, Baumann I: Classification of childhood aplastic anemia and myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program, 2011; 2011: 84-89. : http://dx.doi.org/10.1182/asheducation-2011.1.84
- Niemeyer CM, Fenu S, Hasle H, Mann G, Stary J, van Wering E: Differentiating juvenile myelomonocytic leukemia from infectious disease Blood, 1998; 91: 365-367.
- Niemeyer CM, Flotho C: Juvenile myelomonocytic leukemia: who's the driver at the wheel? Blood, 2019; 133 (10): 1060-1070. : http://dx.doi.org/10.1182/blood-2018-11-844688
- Niemeyer CM, Gelber RD, Tarbell NJ, Donnelly M, Clavell LA, Blattner SR, Donahue K, Cohen HJ, Sallan SE: Low-dose versus high-dose methotrexate during remission induction in childhood acute lymphoblastic leukemia (Protocol 81-01 update). Blood, 1991; 78 (10): 2514-2519.
- Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML: Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet, 2010; 42 (9): 794-800.
- Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Stary J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML: Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet, 2010; 42 (9): 794-800. : http://dx.doi.org/10.1038/ng.641
- Niemeyer CM, Kratz CP: Is granulocyte colony-stimulating factor therapy a risk factor for myelodysplasia/leukemia in patients with congenital neutropenia? Haematologica, 2005; 90 (1): 2-3.
- Niemeyer CM, Kratz CP: Paediatric myelodysplastic syndromes and juvenile myelomonocytic leukemia: molecular classification and treatment options. Brit J Haematol, 2008; 140 (6): 610-624.
- Niemeyer CM, Kratz CP, Hasle H: Pediatric myelodysplastic syndromes. Curr Treat Options Oncol, 2005; 6 (3): 209-214.
- Niemeyer CM, Loh ML, Cseh A, Cooper T, Dvorak CC, Chan R, Xicoy B, Germing U, Kojima S, Manabe A, Dworzak M, de Moerloose B, Stary J, Smith OP, Masetti R, Catala A, Bergstraesser E, Ussowicz M, Fabri O, Baruchel A, Cavé H, Zwaan M, Locatelli F, Hasle H, van den Heuvel-Eibrink MM, Flotho C, Yoshimi A: Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia. Haematologica, 2015; 100 (1): 17-22. : http://dx.doi.org/10.3324/haematol.2014.109892
- Niemeyer CM, Mecucci C: Practical considerations for diagnosis and management of patients and carriers. Semin Hematol, 2017; 54 (2): 69-74. : http://dx.doi.org/10.1053/j.seminhematol.2017.04.002
- Niemeyer CM, Reiter A, Riehm H, Donnelly M, Gelber RD, Sallan SE: Comparative results of two intensive treatment programs for childhood acute lymphoblastic leukemia: The Berlin-Frankfurt-Munster and Dana-Farber Cancer Institute protocols. Ann Oncol, 1991; 2 (10): 745-749.
- Niemeyer CM, Sieff CA, Mathey-Prevot B, Wimperis JZ, Bierer BE, Clark SC, Nathan DG: Expression of human interleukin-3 (multi-CSF) is restricted to human lymphocytes and T-cell tumor lines. Blood, 1989; 73 (4): 945-951.
- Niemeyer CM, Sieff CA, Smith BR, Ault KA, Nathan DG: Hematopoiesis in vitro coexists with natural killer lymphocytes. Blood, 1989; 74 (7): 2376-2382.
- Niemeyer CM.: Synovial hemangioma (letter). N. Engl. J. Med., 1999; 341: 2019.
- Niemitz M, Gunst DCM, Hovels-Gurich HH, Hofbeck M, Kaulitz R, Galm C, Berger F, Nagdyman N, Stiller B, Borth-Bruhns T, Konzag I, Balmer C, Goldbeck L: Predictors of health-related quality of life in children with chronic heart disease. Cardiol Young, 2017; 27 (8): 1455-1464. : http://dx.doi.org/10.1017/S1047951117000440
- Niemitz M, Seitz DC, Oebels M, Schranz D, Hovels-Gurich H, Hofbeck M, Kaulitz R, Galm C, Berger F, Nagdymann N, Stiller B, Borth-Bruhns T, Konzag I, Balmer C, Goldbeck L: The development and validation of a health-related quality of life questionnaire for pre-school children with a chronic heart disease. Qual Life Res, 2013; 22 (10): 2877-2888. : http://dx.doi.org/10.1007/s11136-013-0414-9
- Nino M, Matos-Miranda C, Maeda M, Chen L,, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N: Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A, 2008; 146 (8): 997-1008.
- Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A, 2010; 152A (6): 1443-1449. : http://dx.doi.org/10.1002/ajmg.a.33414
- Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A, 2010; 152 (6): 1443-1449. : http://dx.doi.org/10.1002/ajmg.a.33414
- Nishimura G, Nakashima E, Hirose Y, Cole T, Cox P, Cohn DH, Rimoin DL, Lachman RS, Miyamoto Y, Kerr B, Unger S, Ohashi H, Superti-Furga A, Ikegawa S: The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of
spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet, 2007; 44 (4): e73.
- Nishio N, Yagasaki H, Takahashi Y, Hama A, Muramatsu H, Tanaka M, Yoshida N, Yoshimi A, Kudo K, Ito M, Kojima S: Engraftment syndrome following allogeneic hematopoietic stem cell transplantation in children. Pediatr Transplant, 2009; 13 (7): 831-837. : http://dx.doi.org/10.1111/j.1399-3046.2008.01068.x
- Nishio N, Yagasaki H, Takahashi Y, Muramatsu H, Hama A, Tanaka M, Yoshida N, Watanabe N, Kudo K, Yoshimi A, Kojima S: Late-onset non-infectious pulmonary complications following allogeneic hematopoietic stem cell transplantation in children. Bone Marrow Transpl, 2009; 44 (5): 303-308. : http://dx.doi.org/10.1038/bmt.2009.33
- Nolting A, Perleth M, Langer G, Meerpohl JJ, Gartlehner G, Kaminski-Hartenthaler A, Schunemann HJ: [GRADE guidelines: 5. Rating the quality of evidence - publication bias]. Z Evid Fortbild Qual Gesundhwes, 2012; 106 (9): 670-676. : http://dx.doi.org/10.1016/j.zefq.2012.10.015
- Norden J, Grieskamp T, Lausch E, van Wijk B, van den Hoff MJ, Englert C, Petry M, Mommersteeg MT, Christoffels VM, Niederreither K, Kispert A: Wt1 and retinoic acid signaling in the subcoelomic mesenchyme control the development of the pleuropericardial membranes and the sinus horns. Circ Res, 2010; 106 (7): 1212-1220. : http://dx.doi.org/10.1161/CIRCRESAHA.110.217455
- Norden J,, Grieskamp T, Lausch E, van Wijk B, van den Hoff MJ, Englert C, Petry M, Mommersteeg MT, Christoffels VM, Niederreither K, Kispert A.: Wt1 and retinoic acid signaling in the subcoelomic mesenchyme control the development of the pleuropericardial membranes and the sinus horns. Circ Res, 2010; 106 (7): 1212-1220.
- Norgall S, Papoutsi M, Rössler J, Schweigerer L, Ilting J, Weich HA: Elevated expression of VEGFR-3 in lymphatic endothelial cells form lmyphangiomas. Bmc Cancer, 2007; 7 (online): 105.
- Nothwang HG, Rensing C, Kübler M, Denich D, Brandl B, Stubanus M, Haaf T, Kurnit D, Hildebrandt F: Identification of a noval Ran binding protein 2 related gene (RANBP2L1) and detection of a gene cluster of human chromosome 2. Genomics, 1998; 47: 383-392.
- Nothwang HG, Strahm B, Denich D, Kübler M, Schwabe J, Gingrich JC, Jauch A, Cox A, Nicklin MJH, Kurnit DM, Hildebrandt F: Molecular cloning of the interleukin-1 gene cluster: construction of an integrated YAC, PAC and partial transcriptional map in the region of chromosome 2q13. Genomics 41, 1997; 41: 370-378.
- Nothwang HG, Stubanus M, Adolphs J, Hanusch H, Vossmerbäumer U, Denich D, Kübler M, Mincheva A, Lichter P, Hildebrandt F: Construction of a gene map of the nephronophthisis type 1 (NPH1) region on human chromosome 2q12. Genomics, 1998; 47: 276-285.
- Novakova M, Zaliova M, Sukova M, Wlodarski M, Janda A, Fronkova E, Campr V, Lejhancova K, Zapletal O, Pospisilova D, Cerna Z, Kuhn T, Svec P, Pelkova V, Zemanova Z, Kerndrup G, van den Heuvel-Eibrink M, van der Velden V, Niemeyer C, Kalina T, Trka J, Stary J, Hrusak O, Mejstrikova E: Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome. Haematologica, 2016; 101 (6): 707-716. : http://dx.doi.org/10.3324/haematol.2015.137711
- Novakova M, Zaliova M, Sukova M, Wlodarski M, Janda A, Fronkova E, Campr V, Lejhancova K, Zapletal O, Pospisilova D, Cerna Z, Kuhn T, Svec P, Pelkova V, Zemanova Z, Kerndrup G, van den Heuvel-Eibrink M, van der Velden V, Niemeyer C, Kalina T, Trka J, Stary J, Hrusak O, Mejstrikova E: Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome. Haematologica, 2016; 101 (6): 707-716. : http://dx.doi.org/10.3324/haematol.2015.137711
- Nowak-Gottl U, Kotthoff S, Hagemeyer E, Junker R, Kehl HG, Vielhaber H, Kececioglu D: Interaction of fibrinolysis and prothrombotic risk factors in neonates, infants and children with and without thromboembolism and underlying cardiac disease. a prospective study. Thromb Res, 2001; 103 (2): 93-101.
- Nowak-Göttl U, Auberger K, Göbel U, Kreuz W, Schneppenheim R, Vielhaber H, Zenz W, Zieger B: Inherited defects in the protein C anticoagulant system in childhood thromboembolism. Eur. J. Pediatr., 1996.
- Nuhrenberg T, Gilsbach R, Preissl S, Schnick T, Hein L: Epigenetics in cardiac development, function, and disease. Cell Tissue Res, 2014; 356 (3): 585-600. : http://dx.doi.org/10.1007/s00441-014-1887-8
- Nuhrenberg TG, Hammann N, Schnick T, Preissl S, Witten A, Stoll M, Gilsbach R, Neumann FJ, Hein L: Cardiac Myocyte De Novo DNA Methyltransferases 3a/3b Are Dispensable for Cardiac Function and Remodeling after Chronic Pressure Overload in Mice. Plos One, 2015; 10 (6) (online): e0131019. : http://dx.doi.org/10.1371/journal.pone.0131019
- Nuhrenberg TG, Hammann N, Schnick T, Preissl S, Witten A, Stoll M, Gilsbach R, Neumann FJ, Hein L: Cardiac Myocyte De Novo DNA Methyltransferases 3a/3b Are Dispensable for Cardiac Function and Remodeling after Chronic Pressure Overload in Mice. Plos One, 2015; 10 (6): e0131019-e0131019. : http://dx.doi.org/10.1371/journal.pone.0131019
- O'Callaghan FJK, Edwards SW, Alber FD, Cortina Borja M, Hancock E, Johnson AL, Kennedy CR, Likeman M, Lux AL, Mackay MT, Mallick AA, Newton RW, Nolan M, Pressler R, Rating D, Schmitt B, Verity CM, Osborne JP: Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial. Lancet Child Adolesc Health, 2018; 2 (10): 715-725. : http://dx.doi.org/10.1016/S2352-4642(18)30244-X
- Ober C, Tan Z, Sun Y, Possick JD, Pan L, Nicolae R, Radford S, Parry RR, Heinzmann A, Deichmann KA, Lester LA, Gern JE, Lemanske RF Jr, Nicolae DL, Elias JA, Chupp GL: Effect of variation in CHI3L1 on serum YKL-40 level, risk of asthma, and lung function. New Engl J Med, 2008; 358 (16): 1682-1691. : http://dx.doi.org/10.1056/NEJMoa0708801
- Oberhoffer R, v. Bernuth G, Lang D, Gildein H P, Weismüller P: Sinusknotendysfunktion bei Kindern ohne Herzfehler. Z. Kardiol., 1994; 83: 502-506.
- Oelz O, Jakob A, Diem S, Froesch ER: Non-suppressible insulin-like activity of human serum. VI. Difference between the action of insulin and that of precipitated non-suppressible insulin-like activity on glycogen synthesis of rat adipose tissue and muscle. Biochim Biophys Acta, 1971; 230 (1): 20-29.
- Oelz O, Jakob A, Froesch ER: [New studies on the nature of the non-suppressible insulin-like activity (NSILA) of human serum]. Schweiz Med Wschr, 1970; 100 (12): 539-542.
- Oelz O, Jakob A, Froesch ER: Nonsuppressible insulin-like activity (NSILA) of human serum. V. Hypoglycaemia and preferential metabolic stimulation of muscle by NSILA-S. Eur J Clin Invest, 1970; 1 (1): 48-53.
- Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW: Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein. Bba-mol Basis Dis, 2017; 1863 (12): 3294-3302. : http://dx.doi.org/10.1016/j.bbadis.2017.09.002
- Ofer I, Jacobs J, Jaiser N, Akin B, Hennig J, Schulze-Bonhage A, LeVan P: Cognitive and behavioral comorbidities in Rolandic epilepsy and their relation with default mode network's functional connectivity and organization. Epilepsy Behav, 2018; 78: 179-186. : http://dx.doi.org/10.1016/j.yebeh.2017.10.013
- Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency be mutations in the HADH2 gene. Am J Hum Genet, 2003; 72 (5): 1300-1307.
- Okkersen K, Jimenez-Moreno C, Wenninger S, Daidj F, Glennon J, Cumming S, Littleford R, Monckton DG, Lochmuller H, Catt M, Faber CG, Hapca A, Donnan PT, Gorman G, Bassez G, Schoser B, Knoop H, Treweek S, van Engelen BGM: Cognitive behavioural therapy with optional graded exercise therapy in patients with severe fatigue with myotonic dystrophy type 1: a multicentre, single-blind, randomised trial. Lancet Neurol, 2018; 17 (8): 671-680. : http://dx.doi.org/10.1016/S1474-4422(18)30203-5
- Olbertz D, Pippig S, Hesse V, Schwab KO, Wittwer-Backofen U, Hentschel R, Voigt M: Zum Einfluss von Körpermaßen der Eltern auf das Geburtsgewicht von eutrophen Termingeborenen (TG) unter besonderer Berücksichtigung der Körperhöhe und des Körpergewichts des Vaters. [Influence of Parental Body Measurements on Birth Weight of Eutrophic Term Newborns with Special Consideration of Paternal Body Measurements]. Z Geburtsh Neonatol, 2018. : http://dx.doi.org/10.1055/a-0733-7732 (in Druck)
- Olbertz D, Pippig S, Hesse V, Schwab KO, Wittwer-Backofen U, Hentschel R, Voigt M: Zum Einfluss von Körpermaßen der Eltern auf das Geburtsgewicht von eutrophen Termingeborenen (TG) unter besonderer Berücksichtigung der Körperhöhe und des Körpergewichts des Vaters. Z Geburtsh Neonatol, 2019; 223: 85-91.
- Olbertz DM, Knie A, Straube S, Hentschel R, Schleußner E, Hagenah HP, Däbritz J, Voigt M: Somatic development at birth as influenced by maternal characteristics - an analysis of the German Perinatal Survey. J Perinat Med, 2018; 46: 889-892.
- Olbrich H, Fliegauf M, Hoefele J, Kispert A, Otto E, Volz A, Wolf MT, Sasmaz G, Trauer U, Reinhardt R, Sudbrak R, Antignac C, Gretz N, Walz G, Schermer B, Benzing T, Hildebrandt F, Omran H: Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet, 2003; 34: 455-459.
- Olbrich H, Häffner K, Kispert A, Volkel A, Volz A, Sasmaz G, Reinhardt R, Hennig S, , Lehrach H, Konietzko N, Zariwala M, Noone PG, Knowles M, Mitchison HM, Meeks M, , Chung EM, Hildebrandt F, Sudbrak R, Omran H.: Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet, 2002; 30 (2): 143-144.
- Olbrich H, Horvath J, Fekete A, Loges N.T., Storm van's Gravesande K, Blum A, Hörmann K, Omran H: Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia Pediatr Res, 2006; 59: 418-422.
- Olbrich P, Lorenz M, Cura Daball P, Lucena JM, Rensing-Ehl A, Sanchez B, Fuhrer M, Camacho-Lovillo M, Melon M, Schwarz K, Neth O, Speckmann C: Activated PI3Kdelta syndrome type 2: Two patients, a novel mutation, and review of the literature. Pediat Allerg Imm-uk, 2016; 27 (6): 640-644. : http://dx.doi.org/10.1111/pai.12585
- Olbrich P, Martinez-Saavedra MT, Perez-Hurtado JM, Sanchez C, Sanchez B, Deswarte C, Obando I, Casanova JL, Speckmann C, Bustamante J, Rodriguez-Gallego C, Neth O: Diagnostic and therapeutic challenges in a child with complete interferon-gamma receptor 1 deficiency. Pediatr Blood Cancer, 2015; 62 (11): 2036-2039. : http://dx.doi.org/10.1002/pbc.25625
- Olk-Batz C, Poetsch AR, Nöllke P, Claus R, Zucknick M, Sandrock I, Witte T, Strahm B, Hasle H, Zecca M, Stary J, Bergstraesser E, De Moerloose B, Trebo M, van den Heuvel-Eibrink MM, Wojcik D, Locatelli F, Plass C, Niemeyer CM, Flotho C: Aberrant DNA methylation characterizes juvenile myelomonocytic leukemia with poor outcome. Blood, 2011; 117 (18): 4871-4880. : http://dx.doi.org/10.1182/blood-2010-08-298968
- Olney RC, Prickett TC, Espiner EA, Mackenzie WG, Duker AL, Ditro C, Zabel B, Hasegawa T, Kitoh H, Aylsworth AS, Bober MB: C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. J Clin Endocr Metab, 2015; 100 (2): E355-E359. : http://dx.doi.org/10.1210/jc.2014-2814
- Omran H: Genetische Defekte bei Primärer Ziliärer Dyskinesie Monatsschr Kinderh, 2005; 153: 246-254.
- Omran H: Genetische Grundlagen und Diagnostik hereditärer Erkrankungen Neuropädiatrie in Klinik und Praxis, 2005; 2: 1-9.
- Omran H, C Fernandez, M Jung, K Häffner, B Fargier, A Villaquiran, R Waldherr, N Gretz, M Brandis, F. Rüschendorf, A Reis, F. Hildebrandt: Identification of a New Gene Locus for Adolescent Nephronophthisis on Chromosome 3q22 in a Large Venezuelan Pedigree. Am J Hum Genet, 2000; 66: 118-127.
- Omran H, Häffner K, Burth S, Ala-Mello S, Antignac C, Hildebrandt F: Evidence for further genetic heterogeneity in nephronophthisis. Nephrol Dial Transpl, 2001; 16: 755-758.
- Omran H, Häffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F.: Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol, 2001; 12 (1): 107-113.
- Omran H, Häffner K, Volkel A, Kühr J, Ketelsen UP, Ross UH, Konietzko N, Wienker T, Brandis M, Hildebrandt F: Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dnein chain DNAH5 as acandidate gene. Am J Resp Cell Mol, 2000; 23 (5): 696-702.
- Omran H, Häffner K, Völkel A, Kuehr J, Ketelsen U, Ross UH, Konietzko N, Wienker T, Brandis M, Hildebrandt F: Homozygosity Mapping of a Gene Locus for Primary Ciliary Dyskinesia on Chromosome 5p and Identification of the Heavy Dynein Chain DNAH 5 as a Candidate Gene Am J Resp Cell Mol, 2000; 23: 696-702.
- Omran H, Hildebrandt F: Nephronophthise und "medullary cystic kidney disease". Nieren Hochdruck, 2001; 30: 304-309.
- Omran H, Hildebrandt F, Korinthenberg R, Brandis M: Probable opitz trigonocephaly C syndrome with medulloblastoma. Am J Med Genet, 1997; 69: 395-399.
- Omran H, Hornef N: Genetische Defekte bei primrer ziliärer Dyskinesie Atemw.-Lungenkrkh., 2006; 32: 194-200.
- Omran H, Ketelsen UP, Heinen F, Sauer M, Rudnik-Schöneborn S, Wirth B, Zerres K, Kratzer W, Korinthenberg R: Axonale neuropathy and predominance of type II myofibres in SMA I. Child Neurol, 1998; 13: 327-331.
- Omran H, Kobayashi D, Olbrich H, Tsukahara T, Loges NT, Hagiwara H, Zhang Q, Leblond G, O'Toole E, Hara C, Mizuno H, Kawano H, Fliegauf M, Yagi T, Koshida S,, Miyawaki A, Zentgraf H, Seithe H, Reinhardt R, Watanabe Y, Kamiya R Mitchell DR, Takeda H, : Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins Nature, 2008; 4 (456): 611-616.
- Omran H, Sasmaz G, Häffner K, Volz A, Olbrich H, Melkaoui R, Otto E, Wienker TF, Korinthenberg R, Brandis M, Antignac C, Hildebrandt F: Identification of a gene locus for Senior-Loken syndrome in the region of the nephronophthisis type 3 gene. J Am Soc Nephrol, 2002; 13 (1): 75-79.
- Omran H, Uhl M, Brandis M, Wolff G: Survival and dominant transmission of "lethal" platyspondylic dwarfism of the "West coast" types. J Pediatr, 2000; 136 (3): 411-413.
- OMRAN H, KETELSEN UP, HEINEN F, SAUER M, RUDNIK-SCHÖNEBORN S, WIRTH B, ZERRES K, KRATZER W, KORINTHENBERG R: Axonal neuropathy and predominance of typ II myofibres in SMA 1. Journal of Child Neurology, 1998; 13: 327-331.
- Omran H., Häffner K., Vollmer M., Pigulla J., Wagner G., Caridi G. and Hildebrandt F.: Exclusion of the candidate genes ACE and Bcl-2 for six families with nephronophthisis not linked to the NPH1 locus. Nephro Dial Transplant, 1999; 14: 2328-2331.
- Onken M,, Riesmeier J, Engel M,, Yabanci A, Zabel B,, Després S.: Reversible anonymization of DICOM images using automatically generated policies. Studies in Health Technology and Informatics, 2009; 150: 861-865. : http://10.3233/978-1-60750-044-5-861
- Opp J, Raab K, Jakobs C, Lehnert W, Gibson KM: Sukzinatsemialdehyddehydrogenase (SSADH)-Mangel bei zwei Geschwistern. Monatsschr Kinderheilkd, 1996; 144: 695-698.
- Orban M, Goedel A, Haas J, Sandrock-Lang K, Gartner F, Jung CB, Zieger B, Parrotta E, Kurnik K, Sinnecker D, Wanner G, Laugwitz KL, Massberg S, Moretti A: Functional comparison of induced pluripotent stem cell- and blood-derived GPIIbIIIa deficient platelets. Plos One, 2015; 10 (1): e0115978-e0115978. : http://dx.doi.org/10.1371/journal.pone.0115978
- Ören H, Igci E, Göktay Y, Irken G, Sutor AH: Venous thromboembolism due to factor V Q 506 Mutation in an adolescent male patient. Turk J Haematol, 1997; 14: 105-108.
- Orsini S, Noris P, Bury L, Heller PG, Santoro C, Kadir RA, Butta NC, Falcinelli E, Cid AR, Fabris F, Fouassier M, Miyazaki K, Lozano ML, Zuniga P, Flaujac C, Podda GM, Bermejo N, Favier R, Henskens Y, De Maistre E, De Candia E, Mumford AD, Ozdemir GN, Eker I, Nurden P, Bayart S, Lambert MP, Bussel J, Zieger B, Tosetto A, Melazzini F, Glembotsky AC, Pecci A, Cattaneo M, Schlegel N, Gresele P: Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. Haematologica, 2017; 102 (7): 1192-1203. : http://dx.doi.org/10.3324/haematol.2016.160754
- Orszagh M, Mehraein S, Worner B, Korinthenberg R, Zimmerhackl LB, Hetzel A: Reversible dysregulation of cortical bloodflow in acute hypertensive crisis in children Riv Neuroradiol, 2004; 16: 904-907.
- Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, Kratz CP: TERC mutations in children with refractory cytopenia. Haematologica, 2006; 91 (5): 707-708.
- Osten L, Kubitza M, Gallagher AR, Kastner J, Olbrich H, de Vries U, Kees F, Lelongt B, Somlo S, Omran H, Witzgall R: Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease.
Histochem Cell Biol, 2009; 132: 199-210.
- Ostler T, Davidson W, Ehl S: Virus clearance and immunopathology by CD8(+) T cells during infection with respiratory syncytial virus are mediated by IFN-gamma. Eur J Immunol, 2002; 32 (8): 2117-2123.
- Ostler T, Davidson W, Ehl S: Virus clearance and immunopathology by CD8(+) T cells during infection with respiratory syncytial virus are mediated by IFN-gamma. Eur J Immunol, 2002; 32 (8): 2117-2123. : http://dx.doi.org/10.1002/1521-4141(200208)32:8<2117::AID-IMMU2117>3.0.CO;2-C
- Ostler T, Ehl S: A cautionary note on experimental artefacts induced by fetal calf serum in a viral model of pulmonary eosinophilia. J Immunol Methods, 2002; 268 (2): 211-218.
- Ostler T, Ehl S: Pulmonary T cells induced by respiratory syncytial virus are functional and can make an important contribution to long-lived protective immunity. Eur J Immunol, 2002; 32 (9): 2562-2569.
- Ostler T, Ehl S: A cautionary note on experimental artefacts induced by fetal calf serum in a viral model of pulmonary eosinophilia. J Immunol Methods, 2002; 268 (2): 211-218.
- Ostler T, Ehl S: Pulmonary T cells induced by respiratory syncytial virus are functional and can make an important contribution to long-lived protective immunity. Eur J Immunol, 2002; 32 (9): 2562-2569. : http://dx.doi.org/10.1002/1521-4141(200209)32:9<2562::AID-IMMU2562>3.0.CO;2-4
- Ostler T, Hussell T, Surh CD, Openshaw P, Ehl S: Long-term persistence and reactivation of T cell memory in the lung of mice infected with respiratory syncytial virus. Eur J Immunol, 2001; 31 (9): 2574-2582.
- Ostler T, Hussell T, Surh CD, Openshaw P, Ehl S.: Long-term persistence and reactivation of T cell memory in the lung of mice infected with
respiratory syncytial virus. Eur J Immunol, 2001; 31: 2574-2582.
- Ostler T, Pircher H, Ehl S: "Bystander" recruitment of systemic memory T cells delays the immune response to respiratory virus infection. Eur J Immunol, 2003; 33 (7): 1839-1848.
- Ostler T, Pircher H, Ehl S: "Bystander" recruitment of systemic memory T cells delays the immune response to respiratory virus infection. Eur J Immunol, 2003; 33 (7): 1839-1848. : http://dx.doi.org/10.1002/eji.200323460
- Ostler T, Schamel K, Hussell T, Openshaw P, Hausmann J, Ehl S: An improved protocol for measuring cytotoxic T cell activity in anatomic compartments with low cell numbers. J Immunol Methods, 2001; 257 (1-2): 155-161.
- Ostler T, Schamel K, Hussell T, Openshaw P, Hausmann J, Ehl S.: An improved protocol for measuring cytotoxic T cell activity in anatomic compartments with low
cell numbers. J Immunol Methods, 2001; 257: 155-161.
- Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T: Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site. Mol Med Rep, 2016; 14 (5): 4906-4910. : http://dx.doi.org/10.3892/mmr.2016.5819
- Otto C, Steffensen BF, Hojberg AL, Barkmann C, Rahbek J, Ravens-Sieberer U, Mahoney A, Vry J, Gramsch K, Thompson R, Rodger S, Bushby K, Lochmuller H, Kirschner J: Predictors of Health-Related Quality of Life in boys with Duchenne muscular dystrophy from six European countries. J Neurol, 2017; 264 (4): 709-723. : http://dx.doi.org/10.1007/s00415-017-8406-2
- Otto E, Betz R, Rensing C, Schatzle S, Kuntzen T, Vetsi T, Imm A, Hildebrandt F: A deletion distinct from the classical homologous recombination of Hum Mutat, 2000; 16 (3): 211-223.
- Otto E, Hoefele J, Ruf R, Mueller AM, Hiller KS, Wolf MT, Schuermann MJ, Becker A, Birkenhager R, Sudbrak R, Hennies HC, Nurnberg P, Hildebrandt F: A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet, 2002; 71 (5): 1161-1167.
- Otto E, Kispert A, Schatzle, Lescher B, Rensing C, Hildebrandt F: Nephrocystin: gene expression and sequence conservation between human, J Am Soc Nephrol, 2000; 11 (2): 270-282.
- Otto E.A., Loeys B. Khanna H., Hellemans J., Sudbrak R., Fan S., Muerb U., OToole J.F., Helou J., Attanasio M., Utsch B., Sayer J.A., Lillo C., Jimeno D., Coucke P., De Paepe A., Reinhardt R., Klages S., Tsuda M., Kawakami I., Kusakabe T., Omran H., Imm A., Tippens M., Raymond P.A., Hill J., Beales P.,, He S., Kispert A.,, Margolis B., Williams D.S., Swaroop A., Hildebrandt F.: A novel ciliary IQ domain protein, NPHP5, is mutated in Senior-Loken syndrome (nephronophthisis with retinitis pigmentosa), and interacts with RPGR and calmodulin Nat Genet, 2005; 37: 282-288.
- Oud MM, Latour BL, Bakey Z, Letteboer SJ, Lugtenberg D, Wu KM, Cornelissen EAM, Yntema HG, Schmidts M, Roepman R, Bongers EMHF: Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosis. Cilia, 2018; 7 (online): 1-1. : http://dx.doi.org/10.1186/s13630-018-0055-2
- Owen D, Topf A, Preethish-Kumar V, Lorenzoni PJ, Vroling B, Scola RH, Dias-Tosta E, Geraldo A, Polavarapu K, Nashi S, Cox D, Evangelista T, Dawson J, Thompson R, Senderek J, Laurie S, Beltran S, Gut M, Gut I, Nalini A, Lochmuller H: Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness. Am J Med Genet A, 2018; 176 (7): 1594-1601. : http://dx.doi.org/10.1002/ajmg.a.38707
- Pace JM, Wiese M, Drenguis AS, Kuznetsova N, Leikin S, Schwarze U, Chen D, Mooney SH, Unger S, Byers PH: Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. J Biol Chem, 2008; 283 (23): 16061-16067. : http://dx.doi.org/10.1074/jbc.M801982200
- Pache G, Grohmann J, Bulla S, Arnold R, Stiller B, Schlensak C, Langer M, Blanke P: Prospective electrocardiography-triggered CT angiography of the great thoracic vessels in infants and toddlers with congenital heart disease: Feasibility and image quality. Eur J Radiol, 2011; 80 (3): e440-e445. : http://dx.doi.org/10.1016/j.ejrad.2011.01.032
- Pache G, Schafer C, Wiesemann S, Springer E, Liebau M, Reinhardt HC, August C, Pavenstadt H, Bek MJ: Upregulation of Id-1 via BMP-2 receptors induces reactive oxygen species in podocytes. Am J Physiol-renal, 2006; 291 (3): F654-F662.
- Pache M,, Zieger B,, Blaser S,, Meyer P: Immunoreactivity of the septins SEPT4, SEPT5, and SEPT8 in the human eye. J Histochem Cytochem, 2005; 53 (9): 1139-1147.
- Pagenstecker A, Emmerich B, van Velthoven V, Korinthenberg R, Volk B: Exclusively intracranial cranial fasciitis in a child. Case report. Journal of Neurosurgery, 1995; 83 (4): 744-747.
- Palmer LJ, Barnes KC, Burton PR, Chen H, Cookson WOCM, Deichmann KA, Elston RC, Holloway JW, Jacobs KB, Laitinen T, Wjst M: Meta-analysis for linkage to asthma and atopy in the chromosome 5q31-33 candidate region Hum Mol Genet, 2001; 10: 891-899.
- Palmer LJ, Cookson WOCM, Deichmann KA, Holloway JW, Laitinen T.: Single region linkage analyses of asthma: Description of datasets Genet Epidemiol, 2001; 21 Suppl. 1: 9-15.
- Palmer LJ, Lonjou C, Barnes K, Chen H, Cookson WOCM, Deichmann KA, Holloway JW, Laitinen T, , Wjst M, Morton NE: A retrospective collaboration on chromosome 5 by the International Consortium on Asthma Genetics (COAG) Clin Exp Allergy, 2001; 31: 152-154.
- Pandey RC, Michel S, Schieck M, Binia A, Liang L, Klopp N, Franke A, von Berg A, Bufe A, Rietschel E, Heinzmann A, Laub O, Simma B, Frischer T, Genuneit J, Illig T, Kabesch M: Polymorphisms in extracellular signal-regulated kinase family influence genetic susceptibility to asthma. J Allergy Clin Immun, 2013; 131 (4): 1245-1247. : http://dx.doi.org/10.1016/j.jaci.2012.12.675
- Pandey RC, Michel S, Tesse R, Binia A, Schedel M, Liang L, Klopp N, Franke A, von Berg A, Bufe A, Rietschel E, Heinzmann A, Laub O, Simma B, Frischer T, Genuneit J, Illig T, Kabesch M: Genetic variation in the Toll-like receptor signaling pathway is associated with childhood asthma. J Allergy Clin Immun, 2013; 131 (2): 602-605. : http://dx.doi.org/10.1016/j.jaci.2012.10.061
- Pandiyarajan CK, Prucker O, Zieger B, Ruhe J: Influence of the molecular structure of surface-attached poly(N-alkyl acrylamide) coatings on the interaction of surfaces with proteins, cells and blood platelets. Macromol Biosci, 2013; 13 (7): 873-884. : http://dx.doi.org/10.1002/mabi.201200445
- Pandiyarajan CK, Prucker O, Zieger B, Rühe J: Influence of the molecular structure of surface-attached poly(N-alkyl acrylamide) coatings on the interaction of surfaces with proteins, cells and blood platelets. Macromol Biosci, 2013; 13: 873-884.
- Panizzi JR*, Becker-Heck A*, Castleman VH, Al-Mutairi DA, Liu Y, Loges NT, Pathak N, Austin-Tse C, Sheridan E, Schmidts M, Olbrich H, Werner C, Häffner K, Hellman N, Chodhari R, Gupta A, Kramer-Zucker A, Olale F, Burdine RD, Schier AF, O'Callaghan C, Chung EM, Reinhardt R, Mitchison HM, King SM, Omran H, Drummond IA: CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nat Genet, 2012; 44 (6): 714-719. : http://dx.doi.org/10.1038/ng.2277
- Pannicke U, Honig M, Schulze I, Rohr J, Heinz GA, Braun S, Janz I, Rump EM, Seidel MG, Matthes-Martin S, Soerensen J, Greil J, Stachel DK, Belohradsky BH, Albert MH, Schulz A, Ehl S, Friedrich W, Schwarz K: The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events. Hum Mutat, 2010; 31 (2): 197-207. : http://dx.doi.org/10.1002/humu.21168
- Pannicke U*, Baumann B*, Fuchs S*, Henneke P*, Rensing-Ehl A, Rizzi M, Janda A, Hese K, Schlesier M, Holzmann K, Borte S, Laux C, Rump EM, Rosenberg A, Zelinski T, Schrezenmeier H, Wirth T, Ehl S*, Schroeder ML*, Schwarz K*: Deficiency of innate and acquired immunity caused by an IKBKB mutation. New Engl J Med, 2013; 369 (26): 2504-2514. : http://dx.doi.org/10.1056/NEJMoa1309199
- Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW: A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism. Am J Hum Genet, 2017; 100 (3): 506-522. : http://dx.doi.org/10.1016/j.ajhg.2017.01.034
- Park MS,, Schanbacher BL,, Rieger-Fackeldey E,, Cook AC, Bauer JA, Rogers LK, Hansen TN, Welty SE, Smith CV: Altered expressions of fibroblast growth factor receptors and alveolarization in neonatal mice exposed to 85% oxygen. Pediatr Res, 2007; 62: 652-657.
- Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, Ruzaike G, Lebrecht D, Yoshimi A, Niewisch M, Ripperger T, Gohring G, Baumann I, Schwarz S, Strahm B, Flotho C, Skoda RC, Niemeyer CM, Wlodarski MW: Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia, 2017; 31 (3): 759-762. : http://dx.doi.org/10.1038/leu.2016.342
- Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgard U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW: Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7. Haematologica, 2018; 103 (3): 427-437. : http://dx.doi.org/10.3324/haematol.2017.180778
- Patzer L, Hempel L, Ringelmann F, Misselwitz J, Fuchs D, Zintl F, Brandis M, De Broe M, Zimmerhackl LB: Renal function after conditioning therapy of BMT in childhood. J. Med. Ped. Oncol., 1997; 28: 274-283.
- Patzer L, Ringelmann F, Kentouche K, Fuchs D, Zintl F, , Brandis M, Zimmerhackl LB, Misselwitz J.: Renal function in long-term survivors of stem cell transplantation in childhood. A prospective trial. Bone Marrow Transpl, 2001; 27 (3): 319-327.
- Paulussen M, Ahrens S, Lehnert M, Taeger D, Hense HW, Wagner A, Dunst J, Harms D, Reiter A, Henze G, Niemeyer C, Gobel U, Kremens B, Folsch UR, Aulitzky WE, Voute PA, Zoubek A, Jurgens H: Second malignancies after ewing tumor treatment in 690 patients from a cooperative German/Austrian/Dutch study. Ann Oncol, 2001; 12 (11): 1619-1630.
- Paulussen M, Ahrens S, Lehnert M, Taeger D, Hense H W, Wagner A, Dunst J, Harms D, Reiter A, Henze G, Niemeyer C, Göbel U, Kremens B, Fölsch U R, Aulitzky WE, Voûte P A, Zoubek A, Jürgens H: Second malignancies after Ewing tumor treatment in 690 patients from a cooperative Germen/Austrian/Dutch study. Ann Oncol, 2001; 12: 1619-1630.
- Paur RB, Stockler-Josiroglu S., Hunneman DH, Gahr M, Korenke GC, Pabst W, Hanefeld F, Peters A: Enhanced lympholyte proliferation in patients with ALD treated with erucic acid-rich triglycerides. J Inherit Metab Dis, 2000; 23 (2): 113-119.
- Pavlakovic H, Von Schutz V, Rossler J, Koscielniak E, Havers W, Schweigerer L: Quantification of angiogenesis stimulators in children with solid malignancies. Int J Cancer, 2001; 92 (5): 756-760.
- Pavlakovic H, von Schütz V, Rössler J, Koscielniak E, Havers W, Schweigerer L: Quantification of angiogenesis stimulators in children with solid malignancies. Int J Cancer, 2001; 1: 756-760.
- Pavlova A, Preisler B, Driesen J, de Moerloose P, Zieger B, Hutker S, Dengler K, Harbrecht U, Oldenburg J: Congenital combined deficiency of coagulation factors VII and X-different genetic mechanisms. Haemophilia, 2015; 21 (3): 386-391. : http://dx.doi.org/10.1111/hae.12604
- Pavlovic M, Holl RW, Haeberle U, Schwarz K, Heinze E, Debatin KM: Angiotensin I converting enzyme and angiotensinogen polymorphisms related to 24-h blood pressure in pediatric type I diabetes mellitus Eur J Pediatr, 1999; 158: ^18-^23.
- Pavlovic M, Reile M, Haeberle U, Schwarz K, Heinze E, Teller W, Lang D, Holl RW, Heinze: Angiotensin I-converting enzyme-gene-polymorphism: Relationship to albumin excretion and blood pressure in pediatric patients with type-I-diabetes mellitus Exp Clin Endocrinol Diabetes, 1997; 105: 248-253.
- Pawlitschek F, Keyl C, Zieger B, Budde U, Beyersdorf F, Neumann FJ, Stratz C, Nuhrenberg TG, Trenk D: Alteration of von Willebrand Factor after Transcatheter Aortic Valve Replacement in the Absence of Paravalvular Regurgitation. Thromb Haemostasis, 2018; 118 (1): 103-111. : http://dx.doi.org/10.1160/17-07-0506
- Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Guthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A: MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations. Hum Mutat, 2014; 35 (2): 236-247. : http://dx.doi.org/10.1002/humu.22476
- Pechmann A, Anastasopoulos C, Korinthenberg R, van Velthoven-Wurster V, Kirschner J: Decompressive craniectomy after severe traumatic brain injury in children: complications and outcome. Neuropediatrics, 2015; 46 (1): 5-12. : http://DOI: 10.1055/s-0034-1393707
- Pechmann A, Delvendahl I, Bergmann TO, Ritter C, Hartwigsen G, Gleich B, Gattinger N, Mall V, Siebner HR: The number of full-sine cycles per pulse influences the efficacy of multicycle transcranial magnetic stimulation. Brain Stimul, 2012; 5 (2): 148-154. : http://dx.doi.org/10.1016/j.brs.2011.02.006
- Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kolbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiss C, Theophil M, Kirschner J: Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany. J Neuromuscul Dis, 2018; 5 (2): 135-143. : http://dx.doi.org/10.3233/JND-180315
- Pechmann A, Langer T, Wider S, Kirschner J: Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1. Eur J Paediatr Neuro, 2017. : http://dx.doi.org/10.1016/j.ejpn.2017.11.001
- Pechmann A, Langer T, Wider S, Kirschner J: Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1. Eur J Paediatr Neuro, 2018; 22 (1): 122-127. : http://dx.doi.org/10.1016/j.ejpn.2017.11.001
- Pechmann A, Wellmann S, Stoecklin B, Kruger M, Zieger B: Increased von Willebrand factor parameters in children with febrile seizures. Plos One, 2019; 14 (1): e0210004-e0210004. : http://dx.doi.org/10.1371/journal.pone.0210004
- Pecora F, Gualeni B, Forlino A, Superti-Furga A, Tenni R, Cetta G, Rossi A: In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. Biochem J, 2006; 398 (3): 509-514.
- Peffault de Latour R, Peters C, Gibson B, Strahm B, Lankester A, de Heredia CD, Longoni D, Fioredda F, Locatelli F, Yaniv I, Wachowiak J, Donadieu J, Lawitschka A, Bierings M, Wlodarski M, Corbacioglu S, Bonanomi S, Samarasinghe S, Leblanc T, Dufour C, Dalle JH, Pediatric Working Party of the European Group for Blood, Marrow Transplantation Severe Aplastic Anemia Working Party of the European Group for Blood, Marrow Transplantation: Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. Bone Marrow Transpl, 2015; 50 (9): 1167-1172.
- Perdu B, de Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, de Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B, Vanhoenacker FM, Van Hul W: Osteopathia Striata with Cranial Sclerosis Due to WTX Gene Defect. Journal of Bone and Mineral Research, 2010; 25 (1): 82-90.
- Pereira MJ, Ouyang B, Sundback CA, Lang N, Friehs I, Mureli S, Pomerantseva I, McFadden J, Mochel MC, Mwizerwa O, Del Nido P, Sarkar D, Masiakos PT, Langer R, Ferreira LS, Karp JM: A Highly Tunable Biocompatible and Multifunctional Biodegradable Elastomer. Adv Mater, 2012. : http://dx.doi.org/10.1002/adma.201203824 (in Druck)
- Perleth M, Langer G, Meerpohl JJ, Gartlehner G, Kaminski-Hartenthaler A, Schunemann HJ: [GRADE guidelines: 7. Rating the quality of evidence - inconsistency]. Z Evid Fortbild Qual Gesundhwes, 2012; 106 (10): 733-744. : http://dx.doi.org/10.1016/j.zefq.2012.10.018
- Péron S, Metin A, Gardes P, Alyanakian MA, Sheridan E, Kratz CP, Fischer A, Durandy A: Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. J Exp Med, 2008; 205 (11): 2464-2472.
- Perrot A, Schmitt KR, Roth EM, Stiller B, Posch MG, Browne EN, Timmann C, Horstmann RD, Berger F, Ozcelik C: CCN1 Mutation is Associated with Atrial Septal Defect. Pediatr Cardiol, 2015; 36 (2): 295-299. : http://dx.doi.org/10.1007/s00246-014-1001-8
- Peters A, Kohlfink B, Martin H, Griesinger F, Wörmann B, Gahr M, Roesler J: Defective apoptosis due to a point mutation in the death domain of CD 95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma and Hodgkin's disease Exp. Hematol., 1999; 27: 868-874.
- Peters C, Schrappe M, von Stackelberg A, Schrauder A, Bader P, Ebell W, Lang P, Sykora KW, Schrum J, Kremens B, Ehlert K, Albert MH, Meisel R, Matthes-Martin S, Gungor T, Holter W, Strahm B, Gruhn B, Schulz A, Woessmann W, Poetschger U, Zimmermann M, Klingebiel T: Stem-cell transplantation in children with acute lymphoblastic leukemia: A prospective international multicenter trial comparing sibling donors with matched unrelated donors-The ALL-SCT-BFM-2003 trial. J Clin Oncol, 2015; 33 (11): 1265-1274. : http://dx.doi.org/10.1200/JCO.2014.58.9747
- Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Duckers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hubscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Ozturk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B: Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflamm Bowel Dis, 2017; 23 (12): 2109-2120. : http://dx.doi.org/10.1097/MIB.0000000000001235
- Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Duckers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hubscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Ozturk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B: Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflamm Bowel Dis, 2017; 23 (12): 2109-2120. : http://dx.doi.org/10.1097/MIB.0000000000001235
- Petroff D, Kromeyer-Hauschild K, Wiegand S, l'Allemand-Jander D, Binder G, Schwab KO, Stachow R, Kiess W,, Hammer E, Sturm S, Holl RW, Blüher S: Introducing excess body weight in childhood and adolescence and comparison with body mass index and waist-to-height ratio Int J Obesity, 2014. (in Druck)
- Petroff D, Kromeyer-Hauschild K, Wiegand S, l'Allemand-Jander D, Binder G, Schwab KO, Stachow R, Kiess W, Hammer E, Sturm S, Holl RW, Bluher S: Introducing excess body weight in childhood and adolescence and comparison with body mass index and waist-to-height ratio. Int J Obesity, 2015; 39 (1): 52-60. : http://dx.doi.org/10.1038/ijo.2014.170
- Peuster M, Fink C, Reckers J, Beerbaum P, von Schnakenburg C: Assessment of subacute inflammatory and proliferative response to coronary stenting in a porcine model by local gene expression studies and histomorphometry. Biomaterials, 2004; 25: 957-963.
- Peuster M, Fink C, Schoof S, Von Schnakenburg C, Hausdorf G: Anterograde balloon valvuloplasty for the treatment of neonatal critical valvar aortic stenosis. Catheter Cardio Inte, 2002; 56 (4): 516-520.
- Peuster M, Fink C, von Schnakenburg C: Biocompatibility of corroding tungsten coils: in vitro assessment of degradation kinetics and cytotoxicity on human cells. Biomaterials, 2003; 24 (22): 4057-4061.
- Peuster M, Fink C, von Schnakenburg C, Hausdorf G: Dissolution of tungsten coils does not produce systemic toxicity, but leads to elevated levels of tungsten in the serum and recanalization of the previously occluded vessel. Cardiol Young, 2002; 12 (3): 229-235.
- Peuster M, Fink C, Wohlsein P, Bruegmann M, Günther A, Kaese V, Niemeyer M, Haferkamp H, von Schnakenburg C: Degradation of tungsten coils implanted into subclavian artery of New Zealand white rabbits is not associated with local or systemic toxicity. Biomaterials, 2003; 24: 393-399.
- Peuster M, Hesse C, Schloo T, Fink C, Beerbaum P, von Schnakenburg C: Long-term biocompatibility of a corrodible peripheral iron stent in the porcine descending aorta. Biomaterials, 2006; 27 (28): 4955-4962.
- Peuster M, Kaese V, Wuensch G, von Schnakenburg C, Niemeyer M, Fink C, Haferkamp H, Hausdorf G: Composition and in vitro biocompatibility of corroding tungsten coils. J Biomed Mater Res, 2003; 65 (1): 211-216.
- Peuster M, Wohlsein P, von Schnakenburg C: Histopathological follow-up after bailout stenting for early postoperative stenosis of a central aorto-pulmonary shunt. Cardiol Young, 2003; 13 (2): 197-199.
- Pfäffle R, Schwab KO, Marginean O, Walczak M, Szalecki M, Schuck E, Zabransky M, Zucchini S: Design of, and first data from, PATRO Children, a multicentre, noninterventional study of the long-term efficacy and safety of Omnitrope(®) in children requiring growth hormone treatment. Therapeutic advances in endocrinology and metabolism, 2013; 4 (1): 3-11. : http://doi: 10.1177/2042018813479644.
- Pfaus JG, Jakob A, Kleopoulos SP, Gibbs RB, Pfaff DW: Sexual stimulation induces Fos immunoreactivity within GnRH neurons of the female rat preoptic area: interaction with steroid hormones. Neuroendocrinology, 1994; 60 (3): 283-290.
- Pfeifer D, Woellner C, Petersen A, Pietrogrande MC, Franco JL, Yeganeh M, Ehl S, Matamoros N, Sprecher E, Puck JM, Veelken H, Grimbacher B: The hyper-IgE syndrome is not caused by a microdeletion syndrome. Immunogenetics, 2007; 59 (12): 913-926. : http://dx.doi.org/10.1007/s00251-007-0257-z
- Pfeiffenberger J, Lohse CM, Gotthardt D, Rupp C, Weiler M, Teufel U, Weiss KH, Gauss A: Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatment. J Inherit Metab Dis, 2018. : http://dx.doi.org/10.1007/s10545-018-0218-8 (in Druck)
- Pfeil J, Kobbe R, Trapp S, Kitz C, Hufnagel M: [Recommendations for the diagnosis and prevention of infectious diseases in pediatric and adolescent refugees in Germany : Statement of the German Society of Pediatric Infectious Diseases, the Society of Tropical Pediatrics and International Child Health, and the Professional Association of Pediatricians]. Internist, 2016; 57 (5): 416-433. : http://dx.doi.org/10.1007/s00108-016-0040-z
- Pfeil J, Kobbe R, Trapp S, Kitz C, Hufnagel M: Versorgung von Flüchtlingen: Diagnostik und Prävention im Kindes- und Jugendalter Deutsches Ärzteblatt, 2016; 113: 134-136. (download: https://www.aerzteblatt.de/pdf.asp?id=173648)
- Pfirrmann T, Emmerich D, Ruokonen P, Quandt D, Buchen R, Fischer-Zirnsak B, Hecht J, Krawitz P, Meyer P, Klopocki E, Stricker S, Lausch E, Seliger B, Hollemann T, Reinhard T, Auw-Haedrich C, Zabel B, Hoffmann K, Villavicencio-Lorini P: Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model. Hum Mol Genet, 2015; 24 (11): 3119-3132. : http://dx.doi.org/10.1093/hmg/ddv063
- Pfister S, Janzarik WG, Remke M, Ernst A, Werft W, Becker N, Toedt G, Wittmann A, Kratz C, Olbrich H, Ahmadi R, Thieme B, Joos S, Radlwimmer B, Kulozik A, Pietsch T, Herold-Mende C, Gnekow A, Reifenberger G, Korshunov A, Scheurlen W, Omran H, Lichter P: BRAF gene duplication constitutes a novel mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest, 2008; 118 (5): 1739-1749.
- Pfister S, Janzarik WG, Remke M, Ernst A, Werft W, Becker N, Toedt G, Wittmann A, Kratz C, Olbrich H, Ahmadi R, Thieme B, Joos S, Radlwimmer B, Kulozik A, Pietsch T, Herold-Mende C, Gnekow A, Reifenberger G, Korshunov A, Scheurlen W, Omran H, Lichter P: BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas. J Clin Invest, 2008; 118 (5): 1739-1749.
- Phan V, Cox D, Cipriani S, Spendiff S, Buchkremer S, O'Connor E, Horvath R, Goebel HH, Hathazi D, Lochmuller H, Straka T, Rudolf R, Weis J, Roos A: SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human. Neurobiol Dis, 2018; 124: 218-229. : http://dx.doi.org/10.1016/j.nbd.2018.11.019
- Piazolo S.: Möglichkeiten der Jugendhilfe. Kinderkrankenschwester, 1998; 09: 28.
- Pichler H, Lawitschka A, Glogova E, Willasch AM, von Luettichau I, Lehrnbecher T, Matthes-Martin S, Lang P, Bader P, Sykora KW, Schrum J, Kremens B, Ehlert K, Albert MH, Kuhlen M, Meisel R, Guengoer T, Strahm B, Gruhn B, Schulz A, Woessmann W, Poetschger U, Peters C: Allogeneic hematopoietic stem cell transplantation from unrelated donors is associated with higher infection rates in children with acute lymphoblastic leukemia - A prospective international multicenter trial on behalf of the BFM-SG and the EBMT-PDWP. Am J Hematol, 2019. : http://dx.doi.org/10.1002/ajh.25511 (in Druck)
- Piec G, Jakob A: Vasopressin stimulation of vanadate-sensitive Na+ transport by liver plasma membrane vesicles. Evidence for regulation via phospholipase C and protein kinase C activities. Biochim Biophys Acta, 1992; 1111 (1): 27-34.
- Pieh C, Agostini H, Buschbeck C, Krüger M, Schulte-Mönting J, Zirrgiebel U, Drevs J, Lagrèze WA: VEGF-A, VEGFR-1, VEGFR-2 and Tie2 levels in plasma of premature infants: relationship to retinopathy of prematurity. Brit J Ophthalmol, 2008; 92 (5): 689-693.
- Pieh C *, Krueger M *, Lagreze WA, Gimpel C, Buschbeck C, Zirrgiebel U, Agostini H: Plasma sE-selectin in premature infants: A possible surrogate marker of retinopathy of prematurity. Invest Ophth Vis Sci, 2010; 51 (7): 3709-3713. : http://dx.doi.org/10.1167/iovs.09-4723
- Pietsch J, Koch I, Hermanns-Clausen M, Hüller G, Wagner R, Dressler J.: Pediatric plant exposures in Germany, 1998-2004. Clin Toxicol, 2008; 46 (7): 686-691.
- Pietsch J, Scheffel K, Acquarone D, Koch I, Deters M, Hermanns-Clausen M: [Trends in Abuse of Biogenic Drugs in Parts of Germany 2007-2013]. Gesundheitswesen, 2018; 80 (6): 532-539. : http://dx.doi.org/10.1055/s-0042-108644 (download: https://www.thieme-connect.com/DOI/DOI?10.1055/s-0042-108644)
- Pinto LA, Michel S, Klopp N, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Simma B, Frischer T, Genuneit J, Gorski M, Illig T, Kabesch M: Polymorphisms in the IRF-4 gene, asthma and recurrent bronchitis in children. Clin Exp Allergy, 2013; 43 (10): 1152-1159. : http://dx.doi.org/10.1111/cea.12175
- Pipe S,, Zieger B.: Factors for life: advances in the treatment of congenital and coagulopathic bleeding disorders. Thromb Res, 2011; 128 Suppl. 1: S1.
- Piragyte I, Clapes T, Polyzou A, Klein Geltink RI, Lefkopoulos S, Yin N, Cauchy P, Curtis JD, Klaeyle L, Langa X, Beckmann CCA, Wlodarski MW, Muller P, Van Essen D, Rambold A, Kapp FG, Mione M, Buescher JM, Pearce EL, Polyzos A, Trompouki E: A metabolic interplay coordinated by HLX regulates myeloid differentiation and AML through partly overlapping pathways. Nat Commun, 2018; 9 (1) (online): 3090-3090. : http://dx.doi.org/10.1038/s41467-018-05311-4
- Piza DL, Bruder JC, Jacobs J, Schulze-Bonhage A, Stieglitz T, Dumpelmann M: Differentiation of spindle associated hippocampal HFOs based on a correlation analysis. Conf Proc IEEE Eng Med Biol Soc, 2016; 2016: 5501-5504. : http://dx.doi.org/10.1109/EMBC.2016.7591972
- Plank C, Kalb V, Hinkes B, Hildebrandt F, Gefeller O, Rascher W;, Arbeitsgemeinschaft für Pädiatrische Nephrologie.: Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol, 2008; 23 (9): 1483-1493.
- Planz O, Ehl S, Furrer E, Horvath E, Brundler MA, Hengartner H, Zinkernagel RM: A critical role for neutralizing-antibody-producing B cells, CD4 (+) T cells, and interferons in persistent and acute infections of mice with lymphocytic choriomeningitis virus: implications for adoptive immunotherapy of virus carriers. Biochem. Bioph. Res. Co., 1997; 94: 6874-6879.
- Planz O, Ehl S, Furrer E, Horvath E, Brundler MA, Hengartner H, Zinkernagel RM: A critical role for neutralizing-antibody-producing B cells, CD4(+) T cells, and interferons in persistent and acute infections of mice with lymphocytic choriomeningitis virus: implications for adoptive immunotherapy of virus carriers. P Natl Acad Sci Usa, 1997; 94 (13): 6874-6879.
- Poerner TC, Goebel B, Figulla HR, Ulmer HE, Gorenflo M, Borggrefe M, Arnold R: Diastolic Biventricular Impairment at Long-term Follow-up After Atrial Switch Operation for Complete Transposition of the Great Arteries: An Exercise Tissue Doppler Echocardiography Study. J Am Soc Echocardiog, 2007; 29 (11): 1285-93.
- Poetsch AR, Lipka DB, Witte T, Claus R, Nöllke P, Zucknick M, Olk-Batz C, Fluhr S, Dworzak M, de Moerloose B, Stary J, Zecca M, Hasle H, Schmugge M, van der Heuvel-Eibrink MM, Locatelli F, Niemeyer CM, Flotho C, Plass C: RASA4 undergoes DNA hypermethylation in resistant juvenile myelomonocytic leukemia. Epigenetics-us, 2014; 9: 1252-1260. : http://dx.doi.org/10.4161/epi.29941
- Pogoryelova O, Gonzalez Coraspe JA, Nikolenko N, Lochmuller H, Roos A: GNE myopathy: from clinics and genetics to pathology and research strategies. Orphanet J Rare Dis, 2018; 13 (1): 70. : http://dx.doi.org/10.1186/s13023-018-0802-x
- Pohl A: Modes of administration of antibiotics for symptomatic severe urinary tract infections. Cochrane Database of Systematic Reviews, 2007 (4) (online). : http://DOI: 10.1002/14651858.CD003237.pub2
- Pohl M, Niemeyer CM, Hentschel R, Duffner U, Bergstrasser E, Brandis M: Haemophagocytosis in early congenital syphilis. Eur J Pediatr, 1999; 158 (7): 553-555.
- Pohl M, Zimmerhackl LB, Haußer I, Ludwig H, Hildebrandt F, Gordjani N, Sutor AH, Anton-Lamprecht I, Brandis M: Acute bilateral renal vein thrombosis complicating Netherton syndrome. Eur. J. Pediatr., 1998; 157: 157-160.
- Pohl M, Zimmerhackl LB, Heinen F, Sutor AH, Schneppenheim R, Brandis M: Bilateral renal vein thrombosis and venous sinus thrombosis in a neonate with factor V mutation (FV Leiden). J. Pediatr., 1998; 132: 159-161.
- POHL M, ZIMMERHACKL LB, HEINEN F, SUTOR AH, SCHNEPPENHEIM R, BRANDIS M: Bilateral renal vein thrombosis and venous sinus thrombosis in a neonate with factor V mutation (FV Leiden)
Journal of Pediatrics, 1998; 132: 159-161.
- Pohl M,, Dittrich K,, Ehrich JHH,, Hoppe B,, Kemper MJ,, Klaus G,, Schmitt CP,, Hoyer PF: Behandlung der Purpura-Schönlein-Henoch-Nephritis bei Kindern und Jugendlichen
Therapieempfehlungen der Gesellschaft für Pädiatrische Nephrologie (GPN) Monatsschr Kinderh, 2013; 161: 543-553.
- Pohl M., Niemeyer C., Hentschel R., Duffner U., Bergsträßer E., Brandis M.: Haemophagocytosis in early congenital syphillis. Eur. J. Pediatr., 1999; 158: 553-555.
- Pohl-Schickinger A, Koehne P, Schmitz T, Schmitt KR, Hubler M, Redlin M, Berger F, Stiller B: Vascular endothelial growth factor and its soluble receptor in infants with congenital cardiac disease. Cardiol Young, 2010; 20 (5): 505-508. : http://dx.doi.org/10.1017/S1047951110000545
- Pohl-Schickinger A, Lemmer J, Hubler M, Alexi-Meskishvili V, Redlin M, Berger F, Stiller B: Intravenous clonidine infusion in infants after cardiovascular surgery. Pediatr Anesth, 2008; 18 (3): 217-222. : http://dx.doi.org/10.1111/j.1460-9592.2008.02413.x
- Pol A, Renkema GH, Tangerman A, Winkel EG, Engelke UF, de Brouwer APM, Lloyd KC, Araiza RS, van den Heuvel L, Omran H, Olbrich H, Oude Elberink M, Gilissen C, Rodenburg RJ, Sass JO, Schwab KO, Schafer H, Venselaar H, Sequeira JS, Op den Camp HJM, Wevers RA: Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis. Nat Genet, 2018; 50 (1): 120-129. : http://dx.doi.org/10.1038/s41588-017-0006-7
- Poloni S, Leistner-Segal S, Bandeira IC, D'Almeida V, de Souza CF, Spritzer PM, Castro K, Tonon T, Nalin T, Imbard A, Blom HJ, Schwartz IV: Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism. Gene, 2014; 546 (2): 443-447. : http://dx.doi.org/10.1016/j.gene.2014.05.015
- Poloni S, Spritzer PM, Mendes RH, D'Almeida V, Castro K, Sperb-Ludwig F, Kugele J, Tucci S, Blom HJ, Schwartz IVD: Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism. Clin Chim Acta, 2017; 473: 82-88. : http://dx.doi.org/10.1016/j.cca.2017.08.005
- Ponten A, Sick C, Weeber M, Haller O, Kochs G: Dominant-negative mutants of human MxA protein: domains in the carboxy-terminal moiety are important for oligomerization and antiviral activity J. Virol., 1997; 71 (4): 2591-2599.
- Popek M,, Walter M,, Fernando M,, Lindner M,, Schwab KO,, Sass JO.: Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria. Clin Chim Acta, 2010; 14 (411): 2087-2091.
- Poppert S, Heideking M, Agostini H, Fritzenwanker M, Wuppenhorst N, Muntau B, Henneke P, Kern W, Krucken J, Junker B, Hufnagel M: Diffuse Unilateral Subacute Neuroretinitis Caused by Ancylostoma Hookworm. Emerg Infect Dis, 2017; 23 (2): 343-344. : http://dx.doi.org/10.3201/eid2302.142064
- Poretti A, Mall V, Smitka M, Grunt S, Risen S, Toelle SP, Benson JE, Yoshida S, Jung NH, Tinschert S, Neuhann TM, Rauch A, Steinlin M, Meoded A, Huisman TA, Boltshauser E: Macrocerebellum: significance and pathogenic considerations. Cerebellum, 2012; 11 (4): 1026-1036. : http://dx.doi.org/10.1007/s12311-012-0379-1
- Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer CM, Vichinsky E: Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Brit J Haematol, 2014; 167: 692-696. : http://dx.doi.org/10.1111/bjh.13081
- Posch MG, Gramlich M, Sunde M, Schmitt K, Richter S, Perrot A, Panek AN, Al Khatib I, Nemer G, Megarbane A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C: A Gain-of-function TBX20 Mutation Causes Congenital Atrial Septal Defects, Patent Foramen Ovale and Cardiac Valve Defects. J Med Genet, 2009. : http://dx.doi.org/10.1136/jmg.2009.069997 (in Druck)
- Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, Nemer G, Megarbane A, Dietz R, Stiller B, Berger F, Harvey RP, Ozcelik C: A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet, 2010; 47 (4): 230-235. : http://dx.doi.org/10.1136/jmg.2009.069997
- Posch MG, Perrot A, Schmitt K, Mittelhaus S, Esenwein EM, Stiller B, Geier C, Dietz R, Gessner R, Ozcelik C, Berger F: Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A, 2008; 15 (2): 251-253. : http://dx.doi.org/10.1002/ajmg.a.32042
- Postel-Vinay S, Veron AS, Tirode F, Pierron G, Reynaud S, Kovar H, Oberlin O, Lapouble E, Ballet S, Lucchesi C, Kontny U, Gonzalez-Neira A, Picci P, Alonso J, Patino-Garcia A, de Paillerets BB, Laud K, Dina C, Froguel P, Clavel-Chapelon F, Doz F, Michon J, Chanock SJ, Thomas G, Cox DG, Delattre O: Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. Nat Genet, 2012; 44 (3): 323-327. : http://dx.doi.org/10.1038/ng.1085
- Potaczek DP, Michel S, Sharma V, Zeilinger S, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Frischer T, Genuneit J, Illig T, Kabesch M: Different FCER1A polymorphisms influence IgE levels in asthmatics and non-asthmatics. Pediat Allerg Imm-uk, 2013; 24 (5): 441-449. : http://dx.doi.org/10.1111/pai.12083
- Pothlichet J,, Burtey A, Kubarenko AV, Caignard G, Solhonne B, Tangy F, Ben-Ali M,, Quintana-Murci L,, Heinzmann A, Chiche JD, Vidalain PO, Weber AN, Chignard M, Si-Tahar M.: Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune response PLoS One, 2009; 4 (10): e7582.
- Prasa D, Hoffmann-Walbeck P, Barth S, Stedtler U, Ceschi A, Farber E, Genser D, Seidel C, Deters M: Angiotensin II antagonists - an assessment of their acute toxicity. Clin Toxicol, 2013; 51 (5): 429-434. : http://dx.doi.org/10.3109/15563650.2013.800875
- Praulich I, Tauscher M, Gohring G, Glaser S, Hofmann W, Feurstein S, Flotho C, Lichter P, Niemeyer CM, Schlegelberger B, Steinemann D: Clonal heterogeneity in childhood myelodysplastic syndromes-challenge for the detection of chromosomal imbalances by array-CGH. Gene Chromosome Canc, 2010; 49 (10): 885-900. : http://dx.doi.org/10.1002/gcc.20797
- Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Lausch E, Reutzel D, Fees S, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B: Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor. Nat Genet, 2005; 37 (8): 785-6; author reply 786. : http://dx.doi.org/10.1038/ng0805-785
- Prawitt D, Enklaar T, Gartner-Rupprecht B, Spangenberg C, Oswald M, Lausch E, Schmidtke P, Reutzel D, Fees S, Lucito R, Korzon M, Brozek I, Limon J, Housman DE, Pelletier J, Zabel B: Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. P Natl Acad Sci Usa, 2005; 102 (11): 4085-4090. : http://dx.doi.org/10.1073/pnas.0500037102
- Prelog M, Pohl M, Ermisch B, Fuchshuber A, Huzly D, Jungraithmayr T, Forster J, Zimmerhackl LB: Demand for evaluation of vaccination antibody titers in children considered for renal transplantation. Pediatr Transplant, 2007; 11 (1): 73-76.
- Preuner S, Peters C, Potschger U, Daxberger H, Fritsch G, Geyeregger R, Schrauder A, von Stackelberg A, Schrappe M, Bader P, Ebell W, Eckert C, Lang P, Sykora KW, Schrum J, Kremens B, Ehlert K, Albert MH, Meisel R, Lawitschka A, Mann G, Panzer-Grumayer R, Gungor T, Holter W, Strahm B, Gruhn B, Schulz A, Woessmann W, Lion T: Risk assessment of relapse by lineage-specific monitoring of chimerism in children undergoing allogeneic stem cell transplantation for acute lymphoblastic leukemia. Haematologica, 2016; 101 (6): 741-746. : http://dx.doi.org/10.3324/haematol.2015.135137
- Prevot A, Martini S, Guignard JP: In utero exposure to immunosuppressive drugs. Biol Neonate, 2002; 81 (2): 73-81.
- Primassin S, Tucci S, Spiekerkoetter U: Hepatic and muscular effects of different dietary fat content in VLCAD deficient mice. Mol Genet Metab, 2011; 104 (4): 546-551. : http://dx.doi.org/10.1016/j.ymgme.2011.09.011
- Prufe J, Dierks ML, Bethe D, Oldhafer M, Muther S, Thumfart J, Feldkotter M, Buscher A, Sauerstein K, Hansen M, Pohl M, Drube J, Thiel F, Rieger S, John U, Taylan C, Dittrich K, Hollenbach S, Klaus G, Fehrenbach H, Kranz B, Montoya C, Lange-Sperandio B, Ruckenbrod B, Billing H, Staude H, Brunkhorst R, Rusai K, Pape L, Kreuzer M: Transition structures and timing of transfer from paediatric to adult-based care after kidney transplantation in Germany: a qualitative study. Bmj Open, 2017; 7 (6) (online): e015593-e015593. : http://dx.doi.org/10.1136/bmjopen-2016-015593
- Pschibul A, Janzarik WG, Franck P, Hufnagel M, Beck C, Korinthenberg R: Cystic Encephalomalacia following Vasculopathy and Vasospasm of Proximal Intracranial Arteries Due to Pneumococcal Meningitis in a Infant. Neuropediatrics, 2018; 49 (3): 213-216. : http://dx.doi.org/10.1055/s-0038-1635075
- Pschibul A, Janzarik WG, Franck P, Hufnagel M, Beck C, Korinthenberg R: Cystic Encephalomalacia following Vasculopathy and Vasospasm of Proximal Intracranial Arteries Due to Pneumococcal Meningitis in a Infant. Neuropediatrics, 2018; 49 (3): 213-216. : http://dx.doi.org/10.1055/s-0038-1635075
- Pui CH, Schrappe M, Ribeiro RC, Niemeyer CM: Childhood and adolescent lymphoid and myeloid leukemia. Hematology Am Soc Hematol Educ Program, 2004: 118-145. : http://dx.doi.org/10.1182/asheducation-2004.1.118
- Purz S, Mauz-Körholz C, Körholz D, Hasenclever D, Krausse A, Sorge I, Ruschke K, Stiefel M, Amthauer H, Schober O, Kranert WT, Weber WA, Haberkom U, Hunsdörfer P, Ehlert K, Becker M, Rössler J, Kulozik AE, Sabri O, Kluge R: [18]Fluorodeoxyglucose positron emission tomography for detection of bone marrow involvement in children and adolescents with Hodgkin's lymphoma. J Clin Oncol, 2011; 29 (26): 3523-3528.
- Püst B, Berger A, Lehnert W, Wanders RJA, Gocht A, Hennenberger A: Erstmanifestation eines Abbaudefektes überlangkettiger Fettsäuren (VLCADD) mit letalem Ausgang. Monatsschr Kinderheilkd, 1998; 146: 484-486.
- Puthothu B, Bierbaum S, Kopp MV, Forster J, Heinze J, Weckmann M, Krueger M,, Heinzmann A: Association of TNF-alpha with severe respiratory syncytial virus infection and bronchial asthma. Pediatr Allergy Immu, 2009; 20 (2): 157-163.
- Puthothu B, Forster J, Heinzmann A, Krueger M: Toll-Like Receptor 4 and CD14 polymorphisms in severe respirtory syncytial virus associated disease. Dis Markers, 2006. (in Druck)
- Puthothu B, Heinzmann A: Is toll-like receptor 6 or toll-like receptor 10 involved in asthma genetics--or both? Allergy, 2006; 61 (5): 649-650.
- Puthothu B, Krueger M, Bernhardt M, Heinzmann A: ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma and elevated sICAM1 levels. Genes Immun, 2006; 7 (4): 322-326.
- Puthothu B, Krueger M, Forster J, Heinzmann A: Association between severe respiratory syncytial virus infection and IL13/IL4 haplotypes. J Infect Dis, 2006; 193 (3): 438-441.
- Puthothu B, Krueger M, Heinze J, Forster J, Heinzmann A: Haplotypes of surfactant protein C are associated with common paediatric lung diseases. Pediatr Allergy Immu, 2006; 17 (8): 572-577.
- Puthothu B, Krueger M, Heinze J, Forster J, Heinzmann A: Impact of IL8 and IL8-Receptor alpha polymorphisms on the genetics of bronchial asthma and severe RSV infections. Clin Mol Allergy, 2006; 4: 2-2.
- Puthothu B, Forster J, Heinze J, Heinzmann A, Krueger M: Surfactant protein B polymorphisms are associated with severe respiratory synctial virus associated diseases. BMC Pulmonary Medicine, 2007; 7 (online): 6.
- Puthothu B, krueger M, Forster J, Heinze J, Weckmann M, Heinzmann A: Interleukin (IL)-18 Polymorphisms 133C/G is associated with severe respiratory synctial virus infection. Pediatr Infect Dis J, 2007; 26 (12): 1094-1098.
- Puthothu B, Krueger M, Forster J, Heinzmann A.: Association between Severe Respiratory Syncytial Virus Infection and IL13/IL4 Haplotypes. J Infect Dis, 2005; 193 (3): 438-441.
- Puzik A, Morris-Rosendahl DJ, Ruckauer KD, Otto C, Gessler P, Saueressig U, Hentschel R: Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr). Bmc Pediatr, 2014; 14: 13-13. : http://dx.doi.org/10.1186/1471-2431-14-13
- Puzik A, Rupp J, Troger B, Gopel W, Herting E, Hartel C: Insulin-like growth factor-I regulates the neonatal immune response in infection and maturation by suppression of IFN-gamma. Cytokine, 2012; 60 (2): 369-376. : http://dx.doi.org/10.1016/j.cyto.2012.07.025
- R. Korinthenberg, Wehrle L, Zimmerhackl LB: Renal tubular dysfunction following treatment with antiepileptic drugs. Eur J Ped, 1994; 153: 855-858.
- Rachwal CM, Langer T, Trainor BP, Bell MA, Browning DM, Meyer EC: Navigating Communication Challenges in Clinical Practice: A New Approach to Team Education. Crit Care Nurse, 2018; 38 (6): 15-22. : http://dx.doi.org/10.4037/ccn2018748
- Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Caglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M: MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet, 2018. : http://dx.doi.org/10.1136/jmedgenet-2018-105623 (in Druck)
- Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Caglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M: MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome). J Med Genet, 2019; 56 (5): 332-339. : http://dx.doi.org/10.1136/jmedgenet-2018-105623
- Rahman SH, Kuehle J, Reimann C, Mlambo T, Alzubi J, Maeder ML, Riedel H, Fisch P, Cantz T, Rudolph C, Mussolino C, Joung JK, Schambach A, Cathomen T: Rescue of DNA-PK Signaling and T-Cell Differentiation by Targeted Genome Editing in a prkdc Deficient iPSC Disease Model. Plos Genet, 2015; 11 (5): e1005239-e1005239. : http://dx.doi.org/10.1371/journal.pgen.1005239
- Raidt J, Wallmeier J, Hjeij R, Onnebrink JG, Pennekamp P, Loges NT, Olbrich H, Häffner K, Dougherty GW, Omran H, Werner C: Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J, 2014; 44 (6): 1579-1588. : http://dx.doi.org/10.1183/09031936.00052014
- Rajnoldi AC, Fenu S, Kerndrup G, van Wering ER, Niemeyer CM, Baumann I, for the European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS): Evaluation of dysplastic features in myelodysplastic syndromes: experience from the morphology group of the European Working Group of MDS in Childhood (EWOG-MDS) Ann Hematol, 2005; 84: 429-433.
- Ramalho AS, Beck S, Penque D, Gonska T, Seydewitz HH, Mall M, Amaral MD: Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers. J Med Genet, 2003; 40 (7): e88.
- Ramantani G, Kadish NE, Anastasopoulos C, Brandt A, Wagner K, Strobl K, Mayer H, Schubert-Bast S, Stathi A, Korinthenberg R, Feuerstein TJ, Mader I, van Velthoven V, Zentner J, Schulze-Bonhage A, Bast T: Epilepsy surgery for glioneuronal tumors in childhood: avoid loss of time Neurosurgery, 2014; 74 (6): 648-657. : http://dx.doi.org/10.1227/NEU.0000000000000327
- Ramantani G, Kadish NE, Brandt A, Strobl K, Stathi A, Wiegand G, Schubert-Bast S, Mayer H, Wagner K, Korinthenberg R, Stephani U, van Velthoven V, Zentner J, Schulze-Bonhage A, Bast T: Seizure control and developmental trajectories after hemispherotomy for refractory epilepsy in childhood and adolescence. Epilepsia, 2013; 54 (6): 1046-1055.
- Ramantani G, Kadish NE, Mayer H, Anastasopoulos C, Wagner K, Reuner G, Strobl K, Schubert-Bast S, Wiegand G, Brandt A, Korinthenberg R, Mader I, van Velthoven V, Zentner J, Schulze-Bonhage A, Bast T: Frontal Lobe Epilepsy Surgery in Childhood and Adolescence: Predictors of Long-Term Seizure Freedom, Overall Cognitive and Adaptive Functioning. Neurosurgery, 2018; 83 (1): 93-103. : http://dx.doi.org/10.1093/neuros/nyx340
- Ramantani G, Kadish NE, Strobl K, Brandt A, Stathi A, Mayer H, Schubert-Bast S, Wiegand G, Korinthenberg R, Stephani U, van Velthoven V, Zentner J, Schulze-Bonhage A, Bast T: Seizure and cognitive outcomes of epilepsy surgery in infancy and early childhood Eur J Paediatr Neuro, 2013; 17 (5): 498-506.
- Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA: Epilepsy in Aicardi-Goutières Syndrome. Eur J Paediatr Neuro, 2014; 18 (1): 30-37. : http://dx.doi.org/10.1016/j.ejpn.2013.07.005
- Ramantani G, Strobl K, Stathi A, Brandt A, Schubert-Bast S, Wiegand G, Korinthenberg R, Stephani U, van Velthoven V, Zentner J, Schulze-Bonhage A, Bast T: Reoperation for refractory epilepsy in childhood: a second chance for selected patients Neurosurgery, 2013; 73 (4): 695-704.
- Ranft Ch., Weidtner Ch.: Betreuung eines Pat. mit Anorexia nerv. aus der Sicht des Pflegepersonals. Kinderkrankenschwester, 1998; 11: 497.
- Rapp E, Jakob A, Schefer AB, Bayer E, Albert K: Splitless on-line coupling of capillary high-performance liquid chromatography, capillary electrochromatography and pressurized capillary electrochromatography with nuclear magnetic resonance spectroscopy. Anal Bioanal Chem, 2003; 376 (7): 1053-1061. : http://dx.doi.org/10.1007/s00216-003-2049-0
- Rasch A, Perleth M, Langer G, Meerpohl JJ, Gartlehner G, Kaminski-Hartenthaler A, Schunemann HJ: [GRADE guidelines: 8. Rating the quality of evidence - indirectness]. Z Evid Fortbild Qual Gesundhwes, 2012; 106 (10): 745-753. : http://dx.doi.org/10.1016/j.zefq.2012.10.019
- Rath A, Berner R, Panning M, Krueger M, Gerecke A: Parechovirus as a cause of a sepsis-like-syndrome with cerebral involvement in a 7-week old infant. Klin Padiatr, 2014; 226 (2): 76-77. : http://dx.doi.org/10.1055/s-0033-1333755
- Rath A, Nakamura L, van der Werf-Grohmann N, Zieger B: Acute "Tumour-like" Tongue Haematoma: The Challenge to Diagnose Haemophilia A. Klin Padiatr, 2015; 227 (6-07): 360-362. : http://dx.doi.org/10.1055/s-0035-1548815
- Rath AV, Schmahl GE, Niemeyer CM: Expression of transcription factors during sodium phenylacetate induced erythroid differentiation in K562 cells. Blood Cell Mol Dis, 1997; 23 (1): 27-38. : http://dx.doi.org/10.1006/bcmd.1997.0116
- Rauchenzauner M, Korinthenberg R, Kirschner J: Standardisierte Beurteilung von motorischen Funktionen bei Kindern mit neuromuskulären Erkankungen Neuropädiatrie in Klinik und Praxis, 2011; 3: 72-82.
- Rauschenberger K, Schöler K, Sass JO, Sauer S, Djuric Z, Rumig C, Wolf NI, Okun JG, Kölker S, Schwarz H, Fischer C, Grziwa B, Runz H, Nümann A, Shafqat N, Kavanagh KL, Hämmerling G, Wanders RJ, Shield JP, Wendel U, Stern D, Nawroth P, Hoffmann GF, Bartram CR, Arnold B, Bierhaus A, Oppermann U, Steinbeisser H, Zschocke J: A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med, 2010; 2 (2): 51-62.
- Razmdiou S, Seufert J, Rensing-Zimmermann C, Kirschner J, Korinthenberg R: Differential Analysis of Bone Density in Children and Adolescents with Neuromuscular Disorders and Cerebral Palsy Neuropediatrics, 2015; 46 (6): 385-391. : http://dx.doi.org/10.1055/s-0035-1563695
- Reddy PN, Sargin B, Choudhary C, Stein S, Grez M, Muller-Tidow C, Berdel WE, Serve H, Brandts CH: SOCS1 cooperates with FLT3-ITD in the development of myeloproliferative disease by promoting the escape from external cytokine control. Blood, 2012; 120 (8): 1691-1702. : http://dx.doi.org/10.1182/blood-2010-08-301416
- Regina C, Hettmer S: Myxoid liposarcoma: it's a hippo's world. Embo Mol Med, 2019; 11 (5). : http://dx.doi.org/10.15252/emmm.201910470
- Rego EM, Kim HT, Ruiz-Arguelles GJ, Undurraga MS, Uriarte Mdel R, Jacomo RH, Gutierrez-Aguirre H, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Fagundes EM, Chauffaille Mde L, Chiattone CS, Martinez L, Meillon LA, Gomez-Almaguer D, Kwaan HC, Garces-Eisele J, Gallagher R, Niemeyer CM, Schrier SL, Tallman M, Grimwade D, Ganser A, Berliner N, Ribeiro RC, Lo-Coco F, Lowenberg B, Sanz MA: Improving acute promyelocytic leukemia (APL) outcome in developing countries through networking, results of the International Consortium on APL. Blood, 2013; 121 (11): 1935-1943. : http://dx.doi.org/10.1182/blood-2012-08-449918
- Rego EM, Kim HT, Ruiz-Arguelles GJ, Uriarte Mdel R, Jacomo RH, Gutierrez-Aguirre H, Melo RA, Bittencourt R, Pasquini R, Pagnano K, Fagundes EM, Chauffaille Mde L, Chiattone C, Martinez L, Meillon LA, Gomez-Almaguer D, Kwaan H, Garces-Eisele J, Gallagher R, Niemeyer CM, Lowenberg B, Ribeiro R, LoCoco F, Sanz MA: The impact of medical education and networking on the outcome of leukemia treatment in developing countries. The experience of International Consortium on Acute Promyelocytic Leukemia (IC-APL). Hematology, 2012; 17 Suppl. 1: S36-S38. : http://dx.doi.org/10.1179/102453312X13336169155376
- Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstadter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M: Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat, 2018. : http://dx.doi.org/10.1002/humu.23694 (in Druck)
- Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstadter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M: Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat, 2019; 40 (3): 267-280. : http://dx.doi.org/10.1002/humu.23694
- Reichardt W, Juettner E, Uhl M, Elverfeldt DV, Kontny U: Diffusion-weighted imaging as predictor of therapy repsonse in an animal model of Ewing sarcoma. Invest Radiol, 2009; 44 (5): 298-303.
- Reiff A, Zimmerhackl LB, Ketelsen UP, Leititis JU, Brandis M, Reichmann H: Rhabdomyolyse bei Carnitin-Palmitoyl-transferase Mangel. Monatsschr. Kinderheilkde, 1994; 142: 868-871.
- Reimann C, Arola M, Bierings M, Karow A, van den Heuvel-Eibrink MM, Hasle H, Niemeyer CM, Kratz CP: A novel somatic K-Ras mutation in juvenile myelomonocytic leukemia. Leukemia, 2006; 20 (9): 1637-1638. : http://dx.doi.org/10.1038/sj.leu.2404303
- Reimann C, Kloeckener-Gruissem B, Niemeyer CM, Vanscheidt W: Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. J Eur Acad Dermatol, 2008; 22 (7): 897-898. : http://dx.doi.org/10.1111/j.1468-3083.2007.02530.x
- Reimann C, Six E, Dal-Cortivo L, Schiavo A, Appourchaux K, Lagresle-Peyrou C, de Chappedelaine C, Ternaux B, Coulombel L, Beldjord K, Cavazzana-Calvo M, Andre-Schmutz I: Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/gammac(-/-) mice. Stem Cells, 2012; 30 (8): 1771-1780. : http://dx.doi.org/10.1002/stem.1145
- Reimann C, van Buiren M, Schelling J, Halimeh S, Niehues T, Strahm B, Zieger B: Successful Allogenic Haematopoietic Stem Cell Transplantation in a Boy with Hemophilia A and MDS-RAEB. Klin Padiatr, 2016; 228 (6-07): 336-338. : http://dx.doi.org/10.1055/s-0042-101031
- Reinehr T,, Bechtold-Dalla Pozza S, Bettendorf M, Doerr HG, Gohlke B, Hauffa BP,, Kaspers S, Land C, Mehls O, Schwab KO, Stahnke N, Ranke MB; German KIGS Study Board: Impact of overweight on effectiveness of treatment with human growth hormone in growth hormone deficient children: analysis of German KIGS data Exp Clin Endocr Diab, 2011; 119 (9): 544-548.
- Reiners J, Henne T, Offner G, von Schnakenburg C, Strehlau J, Latta K, Ehrich JH, Melter M: Mig, IP-10, and CXCR3 gene expression is predictive for the individual response of children with chronic allograft nephropathy to mycophenolate mofetil. Transplant P, 2002; 34 (6): 2217-2218.
- Reining U, Mattes J, Storm van´s Gravesande K, Ihorst G, Kuehr J: Reproducibility in induced sputum in children with asthma Pneumologie, 2000; 54: 185-190.
- Reiss J, Bonin M, Schwegler H, Sass JO, Garattini E, Wagner S, Lee HJ, Engel W, Riess O, Schwarz G: The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis Mol Genet Metab, 2005; 85 (1): 12-20.
- Reiter A, Schrappe M, Ludwig WD, Lampert F, Harbott J, Henze G, Niemeyer CM, Gadner H, Muller-Weihrich S, Ritter J, et al.: Favorable outcome of B-cell acute lymphoblastic leukemia in childhood: a report of three consecutive studies of the BFM group. Blood, 1992; 80 (10): 2471-2478.
- Reiter-Theil S, Lindner K, Hentschel R: Lebenserhaltung und Sterbebegleitung in der Neonatologie - Eine empirische Ethikstudie zu kritischen Therapieentscheidungen. Zeitschrift für Palliativmedizin, 2005; 6: 11-19.
- Renella R, Schaefer E, LeMerrer M, Alanay Y, Kandemir N, Eich G, Costa T, Ballhausen D, Boltshauser E, Bonafe L, Giedion A, Unger S, Superti-Furga A: Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A, 2006; 140 (6): 541-550.
- Renella R, Superti-Furga A.: A new case of spondyloenchondrodysplasia with immune dysregulation confirms the pleiotropic nature of the disorder: comment on "A syndrome of immunodeficiency,
autoimmunity, and spondylometaphyseal dysplasia" by M.L. Kulkarni, K. Baskar, and P.M. Kulkarni [2006]. Am J Med Genet A, 2007; 143 (12): 1394-1395.
- Rengaswamy V, Zimmer D, Suss R, Rossler J: RGD liposome-protamine-siRNA (LPR) nanoparticles targeting PAX3-FOXO1 for alveolar rhabdomyosarcoma therapy. J Control Release, 2016; 235: 319-327. : http://dx.doi.org/10.1016/j.jconrel.2016.05.063
- Rensing-Ehl A, Pannicke U, Zimmermann SY, Lorenz MR, Neven B, Fuchs I, Salzer U, Speckmann C, Strauss A, Maabeta E, Collet B, Enders A, Favier R, Alessi MC, Rieux-Laucat F, Zieger B, Schwarz K, Ehl S: Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. Blood, 2015; 126 (16): 1967-1969. : http://dx.doi.org/10.1182/blood-2015-06-654145
- Rensing-Ehl A, Warnatz K, Fuchs S, Schlesier M, Salzer U, Draeger R, Bondzio I, Joos Y, Janda A, Gomes M, Abinun M, Hambleton S, Cant A, Shackley F, Flood T, Waruiru C, Beutel K, Siepermann K, Dueckers G, Niehues T, Wiesel T, Schuster V, Seidel MG, Minkov M, Sirkiä K, Kopp MV, Korhonen M, Schwarz K, Ehl S, Speckmann C: Clinical and immunological overlap between autoimmune lymphoproliferative syndrome and common variable immunodeficiency. Clin Immunol, 2010; 137: 357-365. : http://dx.doi.org/10.1016/j.clim.2010.08.008
- Resch A, Leicht S, Saric M, Pasztor L, Jakob A, Gotz F, Nordheim A: Comparative proteome analysis of Staphylococcus aureus biofilm and planktonic cells and correlation with transcriptome profiling. Proteomics, 2006; 6 (6): 1867-1877. : http://dx.doi.org/10.1002/pmic.200500531
- Rettinger E, Willasch AM, Kreyenberg H, Borkhardt A, Holter W, Kremens B, Strahm B, Woessmann W, Mauz-Körholz C, Gruhn B, Albert MH, Schlegel PG, Klingebiel T, Bader P: Preemptive immunotherapy in childhood acute myeloid leukemia for patients showing evidence of mixed chimerism after allogeneic stem cell transplantation Blood, 2011; 118 (20): 5681-5688.
- Rezvani M, Wilde J, Vitt P, Mailaparambil B, Grychtol R, Krueger M, Heinzmann A: Association of a FGFR-4 Gene Polymorphism with Bronchopulmonary Dysplasia and Neonatal Respiratory Distress. Dis Markers, 2013; 35 (6): 633-640. : http://dx.doi.org/10.1155/2013/932356
- Rice G, Tacke U, Crow Y, et al: Clinical and Molecular Phenotype of Aicardi-Goutiéres Syndrome Am J Hum Genet, 2007; 81: 713-725.
- Richter B, Spahn C, Zschocke I, Leuchter M, Laszig R, Lohle E: Psychische Belastung, Informiertheit und Behandlungserwartung von Eltern mit einem Cochlear-Implant-versorgten Kind. Hno, 2000; 48 (9): 675-683.
- Ridder GJ, Fradis M, Berner R, Lohle E: PFAPA syndrome: current standard of knowledge and relevance for the ENT specialist Laryngo Rhino Otol, 2002; 81: 635-639.
- Rieber N, Singh A, Oz H, Carevic M, Bouzani M, Amich J, Ost M, Ye Z, Ballbach M, Schafer I, Mezger M, Klimosch SN, Weber AN, Handgretinger R, Krappmann S, Liese J, Engeholm M, Schule R, Salih HR, Marodi L, Speckmann C, Grimbacher B, Ruland J, Brown GD, Beilhack A, Loeffler J, Hartl D: Pathogenic fungi regulate immunity by inducing neutrophilic myeloid-derived suppressor cells. Cell Host Microbe, 2015; 17 (4): 507-514. : http://dx.doi.org/10.1016/j.chom.2015.02.007
- Riedinger F, Kuehr J, Strauch E, Schulz H, Ihorst G, Forster J: The Ozone Working Group. Natural history of hay fever and pollen sensitization and doctors' diagnosis of hay fever and pollen asthma in German schoolchildren. Allergy, 2002; 57: 488-492.
- Riedl M, Hofer J, Giner T, Rosales A, Häffner K, Simonetti GD, Walden U, Maier T, Heininger D, Jeller V, Weiss G, van den Heuvel L, Zimmerhackl LB, Wurzner R, Jungraithmayr TC: Novel biomarker and easy to perform ELISA for monitoring complement inhibition in patients with atypical hemolytic uremic syndrome treated with eculizumab. J Immunol Methods, 2016; 435: 60-67. : http://dx.doi.org/10.1016/j.jim.2016.05.009
- Rieger-Fackeldey E, Sindelar R, Sedin G, Jonzon A.: Bronchopulmonary C-fibers modulate the breathing pattern in surfactant-depleted juvenile cats. Resp Physiol Neurobi, 2008; 107: 341-349.
- Rieger-Fackeldey E, Sindelar R, Jonzon A, Sedin G: Bronchopulmonary C-fibres modulate the breathing pattern in surfactant-depleted juvenile cats J Respir Physiol Neurobiol, 2007. (in Druck)
- Rimella-Le-Huu A, Henry H, Kern I, Hanquinet S, Roulet-Perez E, Newman CJ, Superti-Furga A, Bonafé L, Ballhausen D: Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. J Inherit Metab Dis, 2008. (in Druck)
- Rinschen MM, Godel M, Grahammer F, Zschiedrich S, Helmstadter M, Kretz O, Zarei M, Braun DA, Dittrich S, Pahmeyer C, Schroder P, Teetzen C, Gee H, Daouk G, Pohl M, Kuhn E, Schermer B, Kuttner V, Boerries M, Busch H, Schiffer M, Bergmann C, Kruger M, Hildebrandt F, Dengjel J, Benzing T, Huber TB: A Multi-layered Quantitative In Vivo Expression Atlas of the Podocyte Unravels Kidney Disease Candidate Genes. Cell Rep, 2018; 23 (8): 2495-2508. : http://dx.doi.org/10.1016/j.celrep.2018.04.059
- Ripperger T, Steinemann D, Gohring G, Finke J, Niemeyer CM, Strahm B, Schlegelberger B: A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation? Leukemia, 2009; 23 (7): 1364-1366. : http://dx.doi.org/10.1038/leu.2009.87
- Ripperger T, Tauscher M, Praulich I, Pabst B, Teigler-Schlegel A, Yeoh A, Göhring G, Schlegelberger B, Flotho C, Niemeyer CM, Steinemann D: Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia. Brit J Haematol, 2011; 155 (2): 209-217. : http://dx.doi.org/10.1111/j.1365-2141.2011.08817.x
- Rischewski, J.R., Clausen, H., Leber, V., Niemeyer, C., Ritter, J., Schindler, D., Schneppenheim, R: A heterozygous frameshift mutation in the Fanconi Anemia C gene in familiary T-ALL and secondary malignancy. Klin Padiatr, 2000; 212: 174-176.
- Rischke HC, Benz MR, Wild D, Mix M, Dumont RA, Campbell D, Seufert J, Wiech T, Rössler J, Weber WA, Neumann HP: Correlation of the genotype of paragangliomas and pheochromocytomas with their metabolic phenotype on 3,4-dihydroxy-6-18F-fluoro-L-phenylalanin PET. J Nucl Med, 2012; 53 (9): 1352-1358. : http://dx.doi.org/10.2967/jnumed.111.101303
- Rittger H, Kuper A, Breithardt OA, Kuon E, Schmidt M, Sinha AM, Blum B, Jakob A, Brachmann J: A new angiographic method to assess coronary flow reserve-validation in humans. Catheter Cardio Inte, 2010; 75 (2): 167-173. : http://dx.doi.org/10.1002/ccd.22251
- Rittger H, Rieber J, Breithardt OA, Ducker M, Schmidt M, Abbara S, Sinha AM, Jakob A, Nolker G, Brachmann J: Influence of age on pain perception in acute myocardial ischemia: a possible cause for delayed treatment in elderly patients. Int J Cardiol, 2011; 149 (1): 63-67. : http://dx.doi.org/10.1016/j.ijcard.2009.11.046
- Rizzi M, Lorenzetti R, Fischer K, Staniek J, Janowska I, Troilo A, Strohmeier V, Erlacher M, Kunze M, Bannert B, Kyburz D, Voll RE, Venhoff N, Thiel J: Impact of tofacitinib treatment on human B-cells in vitro and in vivo. J Autoimmun, 2017; 77: 55-66. : http://dx.doi.org/10.1016/j.jaut.2016.10.005
- Robertson SP, Jenkins ZA, Morgan T, Ades L, Aftimos S, Boute O, Fiskerstrand T, Garcia-Minaur S, Grix A, Green A, Der Kaloustian V, Lewkonia R, McInnes B, van Haelst MM, Mancini G, Illes T, Mortier G, Newbury-Ecob R, Nicholson L, Scott CI, Ochman K, Brozek I, Shears DJ, Superti-Furga A, Suri M, Whiteford M, Wilkie AO, Krakow D: Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. Am J Med Genet A, 2006; 140 (16): 1726-1736.
- Rochow N, AlSamnan M, So HY, Olbertz D, Pelc A, Däbritz J, Hentschel R, Wittwer-Backofen U, Voigt M: Maternal body height is a stronger predictor of birth weight than ethnicity: analysis of birth weight percentile charts. J Perinat Med, 2019; 47: 22-29. : http://dx.doi.org/10.1515/jpm-2017-0349
- Rodel C, Liersch T, Becker H, Fietkau R, Hohenberger W, Hothorn T, Graeven U, Arnold D, Lang-Welzenbach M, Raab HR, Sulberg H, Wittekind C, Potapov S, Staib L, Hess C, Weigang-Kohler K, Grabenbauer GG, Hoffmanns H, Lindemann F, Schlenska-Lange A, Folprecht G, Sauer R: Preoperative chemoradiotherapy and postoperative chemotherapy with fluorouracil and oxaliplatin versus fluorouracil alone in locally advanced rectal cancer: initial results of the German CAO/ARO/AIO-04 randomised phase 3 trial. Lancet Oncol, 2012; 13 (7): 679-687. : http://dx.doi.org/10.1016/S1470-2045(12)70187-0
- Rodger S, Lochmuller H, Tassoni A, Gramsch K, Konig K, Bushby K, Straub V, Korinthenberg R, Kirschner J: The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases. Orphanet J Rare Dis, 2013; 8 (1): 171-171. : http://dx.doi.org/10.1186/1750-1172-8-171
- Rodger S, Woods KL, Bladen CL, Stringer A, Vry J, Gramsch K, Kirschner J, Thompson R, Bushby K, Lochmuller H: Adult care for Duchenne muscular dystrophy in the UK. J Neurol, 2015; 262 (3): 629-641. : http://dx.doi.org/10.1007/s00415-014-7585-3
- Rogge T, Büchner J, Niemeyer C: Besonderheiten des Blutbildes bei Kindern und Jugendlichen. Teil 1. MTA Dialog, 2001; 1: 20-26.
- Rogge T, Büchner J, Niemeyer C: Besonderheiten des Blutbildes bei Kindern und Jugendlichen. Teil 2. MTA Dialog, 2001; 2: 84-89.
- Rohrer T, Stierkorb E, Heger S, Karges B, Raile K, Schwab KO, Holl RW: Delayed pubertal onset and development in German children and adolescents with type 1 diabetes: cross-sectional analysis of recent data from the DPV diabetes documentation and quality management system. Eur J Endocrinol, 2007; 157 (5): 647-653.
- Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S: Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematol-hematol J, 2010; 95 (12): 2080-2087. : http://dx.doi.org/10.3324/haematol.2010.029389
- Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S: Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematol-hematol J, 2010; 95 (12): 2080-2087.
- Rohr J, Pannicke U, Doring M, Schmitt-Graeff A, Wiech E, Busch A, Speckmann C, Muller I, Lang P, Handgretinger R, Fisch P, Schwarz K, Ehl S: Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. J Clin Immunol, 2010; 30 (2): 314-320. : http://dx.doi.org/10.1007/s10875-009-9349-x
- Rohr JC, Wagner HJ, Lauten M, Wacker HH, Juttner E, Hanke C, Pohl M, Niemeyer CM: Differentiation of EBV-induced post-transplant Hodgkin lymphoma from Hodgkin-like Pediatr Transplant, 2008; 12 (4): 426-431. : http://dx.doi.org/10.1111/j.1399-3046.2007.00816.x
- Rohr JC, Wagner HJ, Lauten M, Wacker HH, Jüttner E, Hanke C, Pohl M, Niemeyer CM: Differentiation of EBV induced post-transplant Hodgkin lymphoma from Hodgkin-like post-transplant lymphoproliferative disease. Pediatr Transplant, 2008; 12 (4): 426-431.
- Rolinck-Werninghaus C, Kopp M, Liebke C, Lange J, Wahn U, Niggemann B: Lack of detectable alterations in immune responses during sublingual immunotherapy in children with seasonal allergic rhinoconjunctivitis to grass pollen. Int Arch Allergy Imm, 2005; 136 (2): 134-141.
- Rolinck-Werninghaus C, Wolf H, Liebke C, Baars JC, Lange J, Kopp MV, Hammermann J, Leupold W, Bartels P, Gruebl A, Bauer CP, Schnitker J, Wahn U, Niggemann B: A prospective, randomized, double-blind, placebo-controlled multi-centre study on the efficacy and safety of sublingual immunotherapy (SLIT) in children with seasonal allergic rhinoconjunctivitis to grass pollen. Allergy, 2004; 59 (12): 1285-1293.
- Rolinck-Werninghaus C,, Keil T, Kopp M,, Zielen S, Schauer U,, von Berg A, Wahn U,, Hamelmann E;, Omalizumab Rhinitis Study Group.: Specific IgE serum concentration is associated with symptom severity in children with seasonal allergic rhinitis. Allergy, 2008; 63 (10): 1339-1344.
- Rommel C, Rosner S, Lother A, Barg M, Schwaderer M, Gilsbach R, Bomicke T, Schnick T, Mayer S, Doll S, Hesse M, Kretz O, Stiller B, Neumann FJ, Mann M, Krane M, Fleischmann BK, Ravens U, Hein L: The Transcription Factor ETV1 Induces Atrial Remodeling and Arrhythmia. Circ Res, 2018; 123 (5): 550-563. : http://dx.doi.org/10.1161/CIRCRESAHA.118.313036
- Roos A, Buchkremer S, Kollipara L, Labisch T, Gatz C, Zitzelsberger M, Brauers E, Nolte K, Schroder JM, Kirschner J, Jesse CM, Goebel HH, Goswami A, Zimmermann R, Zahedi RP, Senderek J, Weis J: Myopathy in Marinesco-Sjogren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology. Acta Neuropathol, 2014; 127 (5): 761-777. : http://dx.doi.org/10.1007/s00401-013-1224-4
- Röseler S,, Sandrock K, Bartsch I, Busse A, Omran H, Loges NT,, Zieger B.: Lethal phenotype of mice carrying a Sept11 null mutation. Biol Chem, 2011; 392 (8-9): 779-781.
- Rose M., Matern D., Millington DS., Lehnert W.: Untypischer Verlauf eines multiplen Acyl-CoA-Dehydrogenase-Defektes. Klin. Pädiatr., 1999; 211: 413-416.
- Rosenberg JM, Maccari ME, Barzaghi F, Allenspach EJ, Pignata C, Weber G, Torgerson TR, Utz PJ, Bacchetta R: Neutralizing Anti-Cytokine Autoantibodies Against Interferon-alpha in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked. Front Immunol, 2018; 9: 544-544. : http://dx.doi.org/10.3389/fimmu.2018.00544
- Rosini R,, Campisi E,, De Chiara M,, Tettelin H,, Rinaudo D,, Toniolo C,, Metruccio M,, Guidotti S,, Skov Sørensen UB,, Kilian M,, Ramirez M,, DEVANI Consortium,, Janulczyk R,, Donati C,, Grandi G,, Margarit I: Genomic analysis reveals the molecular basis for capsule loss in the group B Streptococcus population. Plos One, 2015; 10 (online): e0125985.
- Rossi R, Tjan T, Hentschel R, Hülskamp G, Jorch G: Successful perioperative management of congenital cystic adenomatoid malformation of the lung by high frequency oscillatory ventilation-report of two cases. Klin Pädiatr 209, 1997.
- Rossler J, Breitenstein S, Havers W: Late onset of Imerslund-Grasbeck syndrome without proteinuria in four children of one family from the Lebanon. Eur J Pediatr, 2003; 162 (11): 808-809. : http://dx.doi.org/10.1007/s00431-003-1306-8
- Rossler J, Breit S, Havers W, Schweigerer L: Vascular endothelial growth factor expression in human neuroblastoma: up-regulation by hypoxia. Int J Cancer, 1999; 81 (1): 113-117.
- Rossler J, Dietrich T, Pavlakovic H, Schweigerer L, Havers W, Schuler A, Bornfeld N, Schilling H: Higher vessel densities in retinoblastoma with local invasive growth and metastasis. Am J Pathol, 2004; 164 (2): 391-394. : http://dx.doi.org/10.1016/S0002-9440(10)63129-X
- Rossler J, Enders A, Lahr G, Heitger A, Winkler K, Fuchs H, Kopp M, Niemeyer C, Ehl S: Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr, 2005; 147 (5): 691-694.
- Rossler J, Enders A, Lahr G, Heitger A, Winkler K, Fuchs H, Kopp M, Niemeyer C, Ehl S: Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr, 2005; 147 (5): 691-694. : http://dx.doi.org/10.1016/j.jpeds.2005.07.027
- Rossler J, Geiger J, Foldi E, Adams DM, Niemeyer CM: Sirolimus is highly effective for lymph leakage in microcystic lymphatic malformations with skin involvement. Int J Dermatol, 2017; 56: e71-e88. : http://dx.doi.org/10.1111/ijd.13419
- Rossler J, Geoerger B, Taylor M, Vassal G: Small molecule tyrosine kinase inhibitors: potential role in pediatric malignant solid tumors. Curr Cancer Drug Tar, 2008; 8 (1): 76-85.
- Rossler J, Havers W: [Diagnosis and genetics of congenital dyserythropoietic anemias (CDA)]. Klin Padiatr, 2000; 212 (4): 153-158. : http://dx.doi.org/10.1055/s-2000-9669
- Rossler J, Heimpel H, Havers W: Diagnosis and clinical course of congenital dyserythropoietic anaemia type 1 in a 12-year-old girl. Eur J Pediatr, 2001; 160 (2): 139-140.
- Rossler J, Odenthal E, Geoerger B, Gerstenmeyer A, Lagodny J, Niemeyer CM, Vassal G: EGFR inhibition using gefitinib is not active in neuroblastoma cell lines. Anticancer Res, 2009; 29 (4): 1327-1333.
- Rossler J, Saueressig U, Kayser G, von Winterfeld M, Klement GL: Personalized Therapy for Generalized Lymphatic Anomaly/Gorham-Stout Disease With a Combination of Sunitinib and Taxol. J Pediat Hematol Onc, 2015; 37 (8): e481-e485. : http://dx.doi.org/10.1097/MPH.0000000000000436
- Rossler J, Schill T, Bahr A, Truckenmuller W, Noellke P, Niemeyer CM: Propranolol for proliferating infantile haemangioma is superior to corticosteroid therapy--a retrospective, single centre study. J Eur Acad Dermatol, 2012; 26 (9): 1173-1175. : http://dx.doi.org/10.1111/j.1468-3083.2011.04314.x
- Rossler J, Schwab M, Havers W, Schweigerer L: Hypoxia promotes apoptosis of human neuroblastoma cell lines with enhanced N-myc expression. Biochem Bioph Res Co, 2001; 281 (2): 272-276. : http://dx.doi.org/10.1006/bbrc.2001.4342
- Rossler J, Stolze I, Frede S, Freitag P, Schweigerer L, Havers W, Fandrey J: Hypoxia-induced erythropoietin expression in human neuroblastoma requires a methylation free HIF-1 binding site. J Cell Biochem, 2004; 93 (1): 153-161. : http://dx.doi.org/10.1002/jcb.20133
- Rossler J, Taylor M, Geoerger B, Farace F, Lagodny J, Peschka-Suss R, Niemeyer CM, Vassal G: Angiogenesis as a target in neuroblastoma. Eur J Cancer, 2008; 44 (12): 1645-1656. : http://dx.doi.org/10.1016/j.ejca.2008.05.015
- Rossler J, Wehl G, Niemeyer CM: Evaluating systemic prednisone therapy for proliferating haemangioma in infancy. Eur J Pediatr, 2008; 167 (7): 813-815. : http://dx.doi.org/10.1007/s00431-007-0561-5
- Rössler J, Braunschweiger F, Schill T: Medication-based therapy of infantile hemangioma and lymphatic malformations Hno, 2014; 62 (1): 12-18. : http://dx.doi.org/10.1007/s00106-013-2794-0
- Rössler J, Breitenstein S, Havers W: Megaloblastäre Anämien durch Vitamin B12-Mangel im Kindesalter. Monatsschr Kinderh, 2001; 149: 497-503.
- Rössler J, Enders A, Lahr G, Heitger A, Winkler K, Fuchs H, Kopp M, Niemeyer CM, Ehl S: Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. J Pediatr, 2005; 147 (5): 691-694.
- Rössler J, Haubold M, Gilsbach R, Juttner E, Schmitt D, Niemeyer CM, Hein L: beta1-Adrenoceptor mRNA level reveals distinctions between infantile hemangioma and vascular malformations. Pediatr Res, 2013; 73 (4 Pt 1): 409-413. : http://dx.doi.org/10.1038/pr.2013.16
- Rössler J, Heimpel H, Havers W: Diagnosis and clinical course of congenital dyserythropoietic anemia in a 12-year old girl. Eur J Pediatr, 2001; 160: 139.
- Rössler J, Monnet Y, Farace F, Opolon P, Daudigeos-Dubus E, Bourredjem A, Vassal G, Georger B: The selective VEGFR1-3 inhibitor axitinib (AG-013736) shows antitumor activity in human neuroblastoma xenografts. Int J Cancer, 2010. (in Druck)
- Rössler J, Monnet Y, Farace F, Opolon P, Daudigeos-Dubus E, Bourredjem A, Vassal G, Geoerger B: The selective VEGFR1-3 inhibitor axitinib (AG-013736) shows antitumor activity in human neuroblastoma xenografts. Int J Cancer, 2011; 28 (11): 2748-2758.
- Rössler J, Salfeld P, Niemeyer CM: Diagnostik und Therapie von Gefäßfehlbildungen. Monatsschr Kinderh, 2005; 153: 364-372.
- Rössler J, Schwab M, Havers W, Schweigerer L: Hypoxia promotes apoptosis in human neuroblastoma cell lines with enhanced N-myc expression. Biochem Bioph Res Co, 2001; 281: 272-276.
- Rössler J, Wehl G, Niemeyer CM: Evaluating systemic prednisone therapy for proliferating haemangioma in infancy. Eur J Pediatr, 2008; 167 (7): 813-815.
- Rössler J, Zambrzycka I, Lagodny J, Kontny U, Niemeyer CM: Effect of STI-571 (imatinib mesylate) in combination with retinoic acid and gamma-irradiation on viability of neuroblastoma cells. Biochem Bioph Res Co, 2006; 342: 1405-1412.
- Roth AV, Schmahl GE, Niemeyer CM: Expression of transcription factors during sodium phynylacetate induced erythroid differentiation in K562 cells. Blood cells, molecules, and Diseases, 1997; 23: 27-38.
- Rottenburger C, Juettner E, Harttrampf AC, Hentschel M, Kontny U, Roessler J: False-positive radio-iodinated metaiodobenzylguanidine (123I-MIBG)accumulation in a mast cell-infiltraed infantile haemangioma. Brit J Radiol, 2010; 83 (992): e168-e171. : http://dx.doi.org/10.1259/bjr/40750533
- Rücker G, Reiser V, Motschall E, Binder H, Meerpohl JJ, Antes G, Schumacher M: Boosting qualifies capture-recapture methods for estimating the comprehensiveness of literature searches for systematic reviews. J Clin Epidemiol, 2011; 64 (12): 1364-1372.
- Rudnik-Schoneborn S, Goebel HH, Schlote W, Molaian S, Omran H, Ketelsen U, Korinthenberg R, Wenzel D, Lauffer H, Kreiss-Nachtsheim M, Wirth B, Zerres K: Classical infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy. Neurology, 2003; 60: 983-987.
- Rudnik-Schoneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerova A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hubner C, Brockmann K, Van Maldergem L, Schiff M, Holzinger A, Barth P, Reardon W, Yourshaw M, Nelson SF, Eggermann T, Zerres K: Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology, 2013; 80 (5): 438-446. : http://dx.doi.org/10.1212/WNL.0b013e31827f0f66
- Rudnik-Schoneborn S, Tolle D, Senderek J, Eggermann K, Elbracht M, Kornak U, von der Hagen M, Kirschner J, Leube B, Muller-Felber W, Schara U, von Au K, Wieczorek D, Bussmann C, Zerres K: Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients. Clin Genet, 2016; 89 (1): 34-43. : http://dx.doi.org/10.1111/cge.12594
- Rudnik-Schöneborn S, Goebel H, Schlote W, Molaian S, Omran H, Ketelsen U, Korinthenberg R, Wenzel D, Lauffer H, Kreiss-Nachtsheim M, Wirth B, Zerres K: Classic infantile spinal muscular atrophy with SMN deficiency causes sensory neuronopathy Neurology, 2003; 60: 983-987.
- Rudnik-Schöneborn S, Stolz P, Varon R, Grohmann K, Schächtele M, Ketelsen U-P, Stavrou D, Kurz H, Hübner C, Zerres K: Long-Term Observations of Patients with Infantile Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD) Neuropediatrics, 2004; 35: 174-192.
- Ruegger CM, Lindner M, Ballhausen D, Baumgartner MR, Beblo S, Das A, Gautschi M, Glahn EM, Grünert SC, Hennermann J, Hochuli M, Huemer M, Karall D, Kolker S, Lachmann RH, Lotz-Havla A, Moslinger D, Nuoffer JM, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg FA, Williams M, Burgard P, Haberle J: Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis, 2014; 37 (1): 21-30. : http://dx.doi.org/10.1007/s10545-013-9624-0
- Ruess M, Mueller U, Sander A, Berner R: Antibiotic susceptibility pattern in Streptococcus agalactiae isolates in a German University hospital. Scand J Infect Dis, 2000; 32: 623-626.
- Ruess M, Sander A, Brandis M, Berner R: Portal vein and bone involvement in disseminated cat-scratch disease: report of 2 cases. Clin Infect Dis, 2000; 31: 818-821.
- Ruess M, Sander A, Hentschel R, Berner R: Neonatal sepsis due to Enterococcus casseliflavus. Scand J Infect Dis, 2002; 34: 471-472.
- Ruess M., Greene JN., Vincent AL., Sandin RL.: Invasive Aspergillus involving the ethmoidal sinuses in cancer patient: report of four cases and review of the literature. If. Dis. Clin. Pract., 1999; 8: 323-327.
- Ruffer T, Joubert CC, Buitendach BE, Swarts JC, Jakob A, Lang H: (1-Ferrocenyl-4,4,4-trifluoro-butane-1,3-dionato-kappaO,O)bis-(triphenyl-phosphan e)copper(I). Acta Crystallogr E, 2011; 67 (Pt 2): m231-m232. : http://dx.doi.org/10.1107/S1600536811001796
- Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F: Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. Pediatr Nephrol, 2003; 18 (2): 105-109.
- Rump LC, Oberhauser V, Schwertfeger E, Speidel L, Zimmerhackl LB, Kirste G, Grotz W: Dihydropyridine calcium antagonistts an renal function in hypertensiave kidney transplant recipients. J Hypertens, 2000; 18: 1115-1119.
- Ruperto N, Ravelli A, Pistorio A, Ferriani V, Calvo I, Ganser G, Brunner J, Dannecker G, Silva CA, Stanevicha V, Cate RT, van Suijlekom-Smit LW, Voygioyka O, Fischbach M, Foeldvari I, Hilario O, Modesto C, Saurenmann RK, Sauvain MJ, Scheibel I, Sommelet D, Tambic-Bukovac L, Barcellona R, Brik R, Ehl S, Jovanovic M, Rovensky J, Bagnasco F, Lovell DJ, Martini A: The provisional Paediatric Rheumatology International Trials Organisation/American College of Rheumatology/European League Against Rheumatism Disease activity core set for the evaluation of response to therapy in juvenile dermatomyositis: a prospective validation study. Arth Rheum/ar C Res, 2008; 59 (1): 4-13. : http://dx.doi.org/10.1002/art.23248
- Rusk RA, Mori Y, Mehwald PS, Kenny A, Sahn DJ: Impact of harmonic imaging and transducer frequency on 'ventricular volume' measurements using real-time three-dimensional echocardiography: studies in an in vitro model. Eur J Echocardiogr, 2001; 2 (4): 245-252.
- Sach M, Burger JA, Engelhardt A, Ketelsen UP, Schollmeyer P: Passagere Hemiparese und Raynaud-Symptomatik bei eosinophiler Fasziitis Internist, 1997; 38: 688-691.
- Salehi Z, Geffers L, Vilela C, Birkenhager R, Ptushkina M, Berthelot K, Ferro M, Gaskell S, Hagan I, Stapley B, McCarthy JE: A nuclear protein in Schizosaccharomyces pombe with homology to the human tumour suppressor Fhit has decapping activity. Mol Microbiol, 2002; 46 (1): 49-62.
- Sander A, Berner R, Ruess M: Serodiagnosis of cat scratch disease: response to Bartonella henselae in children and a review of
diagnostic methods Eur J Clin Microbiol, 2001; 20 (6): 392-401.
- Sander A., Posselt M., Böhm N., Ruess M., Altwegg M.: Detection of Bartonella henselae DNA by two different PCR assays and determination of the genotypes of strains involved in histologically defined cat scratch disease. Journal of Clin. Microbiol., 1999; 37: 993-997.
- Sander A., Ruess M., Deichmann K., Böhm N., Bredt W.: Two different genotypes of Bartonella henselae in children with Cat-Scratch-Disease and their Pet Cats Scand. J. Infect. Dis., 1998; 30: 387-391.
- Sandrock K, Halimeh S, Wiegering V, Kappert G, Sauer K, Deeg N, Busse E, Zieger B: Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families. Klin Padiatr, 2012; 224 (3): 174-178. : http://dx.doi.org/10.1055/s-0032-1306346
- Sandrock K,, Bartsch I, Bläser S, Busse A, Busse E,, Zieger B.: Characterization of human septin interactions. Biol Chem, 2011; 392 (8-9): 751-761.
- Sandrock K,, Knöfler R, Greinacher A, Fürll B, Gerisch S, Schuler U, Gehrisch S, Busse A,, Zieger B.: Novel Mutation in Bernard-Soulier Syndrome Transfusion Medicine and Hemotherapy, 2010; 37 (5): 278-282.
- Sandrock K, Bartsch I, Rombach N, Schmidt K, Nakamura L, Hainmann I, Busse A,, Zieger B: Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1) Klin Padiatr, 2010; 222 (3): 168-174.
- Sandrock K, Zieger B.: Current Strategies in Diagnosis of Inherited Storage Pool Defects Transfusion Medicine and Hemotherapy, 2010; 37: 248-258.
- Sandrock-Lang K, Bartsch I, Buechele N, Koehler U, Simon-Gabriel CP, Eckenweiler M, Zieger B: Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. Blood Cell Mol Dis, 2017; 67: 75-80. : http://dx.doi.org/10.1016/j.bcmd.2017.03.001
- Sandrock-Lang K, Bartsch I, Buechele N, Koehler U, Simon-Gabriel CP, Eckenweiler M, Zieger B: Novel mutation in two brothers with Hermansky Pudlak syndrome type 3. Blood Cell Mol Dis, 2017; 67: 75-80. : http://dx.doi.org/10.1016/j.bcmd.2017.03.001
- Sandrock-Lang K, Bockelmann D, Eberl W, Schmitt-Kastner S, Zieger B: A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4. Blood Cell Mol Dis, 2018; 69: 113-116. : http://dx.doi.org/10.1016/j.bcmd.2017.10.005
- Sandrock-Lang K, Oldenburg J, Wiegering V, Halimeh S, Santoso S, Kurnik K, Fischer L, Tsakiris DA, Sigl-Kraetzig M, Brand B, Buhrlen M, Kraetzer K, Deeg N, Hund M, Busse E, Kahle A, Zieger B: Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. Thromb Haemostasis, 2015; 113 (4): 782-791. : http://dx.doi.org/10.1160/TH14-05-0479
- Santos-Sierra S, Deshmukh SD, Kalnitski J, Kuenzi P, Wymann MP, Golenbock DT, Henneke P: Mal connects TLR2 to PI3Kinase activation and phagocyte polarization. Embo J, 2009; 28 (14): 2018-2027. : http://dx.doi.org/10.1038/emboj.2009.158
- Santos-Sierra S, Deshmukh SD, Kalnitski J, Kuenzi P, Wymann MP, Golenbock DT, Henneke P: Mal connects TLR2 to PI3Kinase activation and phagocyte polarization. Embo J, 2009; 28 (14): 2018-2027. : http://dx.doi.org/10.1038/emboj.2009.158
- Santos-Sierra S, Golenbock DT, Henneke P: Toll-like receptor-dependent discrimination of streptococci. J Endotoxin Res, 2006; 12 (5): 307-312.
- Santos-Sierra S, Golenbock DT, Henneke P: Toll-like receptor-dependent discrimination of streptococci. J Endotoxin Res, 2006; 12 (5): 307-312. : http://dx.doi.org/10.1179/096805106X118762
- Sarikouch S, Koerperich H, Dubowy KO, Boethig D, Boettler P, Mir TS, Peters B, Kuehne T, Beerbaum P: Impact of gender and age on cardiovascular function late after repair of tetralogy of Fallot: percentiles based on cardiac magnetic resonance. Circ-cardiovasc Imag, 2011; 4 (6): 703-711. : http://dx.doi.org/10.1161/CIRCIMAGING.111.963637
- Sarkar A, Mei A, Paquola ACM, Stern S, Bardy C, Klug JR, Kim S, Neshat N, Kim HJ, Ku M, Shokhirev MN, Adamowicz DH, Marchetto MC, Jappelli R, Erwin JA, Padmanabhan K, Shtrahman M, Jin X, Gage FH: Efficient Generation of CA3 Neurons from Human Pluripotent Stem Cells Enables Modeling of Hippocampal Connectivity In Vitro. Cell Stem Cell, 2018; 22 (5): 684-697.e9. : http://dx.doi.org/10.1016/j.stem.2018.04.009
- Sass JO: Laboratory diagnosis of sulphite oxidase deficiency. Eur J Pediatr, 2006; 165 (10): 739; autho-739; autho.
- Sass JO, Ensenauer R, Röschinger W, Reich H, Steuerwald U, Schirrmacher O, Engel K, Häberle J, Andresen BS, Mégarbané A, Lehnert W, Zschocke J: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism. Mol Genet Metab, 2008; 93 (1): 30-35.
- Sass JO, Fischer K, Wang R,, Christensen E, Scholl-Bürgi S, Chang R, Kapelari K,, Walter M.: D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). Hum Mutat, 2010; 31 (12): 1280-1285. : http://doi: 10.1002/humu.21375
- Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Baric I, Coker M, Damli-Huber A, Faqeih EA, Garcia Segarra N, Geraghty MT, Jatun BM, Kalkan Ucar S, Kriewitz M, Rauchenzauner M, Bilic K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD: Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Mol Genet Metab, 2016; 119 (1-2): 44-49. : http://dx.doi.org/10.1016/j.ymgme.2016.07.008
- Sass JO, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fatima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS: Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia. Brain Dev-jpn, 2009. : http://dx.doi.org/10.1016/j.braindev.2009.09.005 (in Druck)
- Sass JO, Hofmann M, Skladal D, Mayatepek E, Schwahn B, Sperl W: Propionic acidemia revisited: a workshop report. Clin Pediatr, 2004; 43 (9): 837-843.
- Sass JO, Jobard F, Topcu M, Mahfoud A, Werle E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer JL: 2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene. J Inherit Metab Dis, 2008. : http://dx.doi.org/10.1007/s10545-008-0855-4 (in Druck)
- Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges N.T., Schweitzer-Krantz, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers R.A., Omran H: Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism Am J Hum Genet, 2006; 78: 401-409.
- Sass JO, Nakanishi T, Sato T, Shimizu A: New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. Ann Clin Biochem, 2004; 41 (Pt 2): 157-159.
- Sass JO, Nakanishi T, Sato T, Sperl W, Shimizu A: S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia. Biochem Bioph Res Co, 2003; 310 (1): 242-246.
- Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H: Neurological findings in aminoacylase I deficiency. Neurology, 2007; 68: 2151-2153.
- Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H: Neurological findings in aminoacylase 1 deficiency. Neurology, 2007; 68 (24): 2151-2153.
- Sass JO, Romrell JS, Vinson SY, Fernandez HH, Fischer J, Rodriguez RL, Okun MS: Tracing the origin of L-2-hydroxyglutaric aciduria in a family. Int J Neurosci, 2009; 119 (11): 2118-2123.
- Sass JO, Sander S, Zschocke J: Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. J Inherit Metab Dis, 2004; 27 (6): 741-745.
- Sass JO, Schwab KO, Schulze A, Brandis M: Welche Rolle bleibt dem selektiven Screening auf Stoffwechselstörungen angesichts des Neugeborenenscreenings mit Tandem-Massenspektrometrie ? Monatsschr Kinderh, 2005; 153 (2): 164-167.
- Sass JO, Skladal D, Zelger B, Romani N, Utermann B: Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid. Arch Dermatol Res, 2004; 296 (4): 188-191.
- Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD: 3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase. J Inherit Metab Dis, 2012; 35: 437-442. : http://dx.doi.org/10.1007/s10545-011-9381-x
- Sass JO,, Gunduz A, Araujo Rodrigues Funayama C, Korkmaz B, Dantas Pinto KG, Tuysuz B, Yanasse Dos Santos L, Taskiran E, de Fátima Turcato M, Lam CW, Reiss J, Walter M, Yalcinkaya C, Camelo Junior JS: Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures
and cystic encephalomalacia.
Brain Dev-jpn, 2010; 32 (7): 544-549.
- Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H.: Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism. Am J Hum Genet, 2006; 78 (3): 401-409.
- Sauer M: Reorganisation des Bewußtseins Therapiewoche, 1996; 19: 1019.
- Sauer M: Körperbefunde einer integrierten Therapie bei Patienten mit neuromuskulären Erkrankungen Sozialpädiatrie und kinderärztliche Praxis, 1996; 18: 160.
- Sauer M, Jakob A, Nordheim A, Hochholdinger F: Proteomic analysis of shoot-borne root initiation in maize (Zea mays L.). Proteomics, 2006; 6 (8): 2530-2541. : http://dx.doi.org/10.1002/pmic.200500564
- Sauer MG, Lang PJ, Albert MH, Bader P, Creutzig U, Eyrich M, Greil J, Gruhn B, Holter W, Klingebiel T, Kremens B, von der Leyen H, Mauz-Korholz C, Meisel R, Mischke K, Muller I, Niemeyer CM, Peters C, Pohler C, Reinhardt D, Burkhardt B, Schlegel PG, Schulz AS, Schrum J, Sedlacek P, Strahm B, Woessmann W, Handgretinger R, Zimmermann M, Borkhardt A: Hematopoietic stem cell transplantation for children with acute myeloid leukemia-results of the AML SCT-BFM 2007 trial. Leukemia, 2019. : http://dx.doi.org/10.1038/s41375-019-0584-8 (in Druck)
- Sau K, Mambula SS, Latz E, Henneke P, Golenbock Dt, Levitz SM: The antifungal drug amphotericin B promotes inflammatory cytokine release by a Toll-like receptor- and CD14-dependent mechanism. J Biol Chem, 2003; 278 (39): 37561-37568.
- Sau K, Mambula SS, Latz E, Henneke P, Golenbock DT, Levitz SM: The antifungal drug amphotericin B promotes inflammatory cytokine release by a J Biol Chem, 2003; 278 (39): 37561-37568. : http://dx.doi.org/10.1074/jbc.M306137200
- Sauter S, Bauer I, Berner R, Duffner U, Niemeyer C: Kinetik der myelopoetischen Regeneration udn Mobilisierung CD34-positiver Zellen im Rahmen der Neuroblastom-Therapiestudie NB90. Klin Pädiatr, 1997; 209: 191-195.
- Sauter S, Niemeyer C, Lohner M, Ringe H, Rüschoff J, Brandis M: Measles giant cell pneumonia in two children with acute myeloid leukemia (AML). Onkologie, 2000; 23: 262-264.
- Savoia A, Kunishima S, de Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp MC, Alessi MC, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux MF, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F: Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat, 2014; 35: 1033-1045. : http://dx.doi.org/10.1002/humu.22607
- Savona MR, Malcovati L, Komrokji R, Tiu R, Mughal TI, Orazi A, Kiladjian JJ, Padron E, Solary E, Tibes R, Itzykson R, Cazzola M, Mesa R, Macieiewski J, Fenoux P, Garcia-Manero G, Gerds A, Sanz G, Niemeyer CM, Cervantes F, Germing U, Cross NC, List AF, on behalf of MDS/MPN International Working Group: An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults. Blood, 2015; 125 (2): 1857-1865. : http://dx.doi.org/10.1182/blood-2014-10-607341
- Schaefer F, van de Walle J, Zurowska A, Gimpel C, van Hoeck K, Drozdz D, Montini G, Bagdasorova IV, Sorof J, Sugg J, Teng R, Hainer JW, Candesartan in Children with Hypertension Investigators.: Efficacy, safety and pharmacokinetics of candesartan cilexetil in hypertensive children from 1 to less than 6 years of age. J Hypertens, 2010; 28 (5): 1083-1090. : http://dx.doi.org/10.1097/HJH.0b013e328336b86b
- Schafer ST, Paquola ACM, Stern S, Gosselin D, Ku M, Pena M, Kuret TJM, Liyanage M, Mansour AA, Jaeger BN, Marchetto MC, Glass CK, Mertens J, Gage FH: Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons. Nat Neurosci, 2019; 22 (2): 243-255. : http://dx.doi.org/10.1038/s41593-018-0295-x
- Schanze N, Jacobi SF, Rijntjes E, Mergler S, Del Olmo M, Hoefig CS, Khajavi N, Lehmphul I, Biebermann H, Mittag J, Koehrle J: 3-Iodothyronamine decreases expression of genes involved in iodide metabolism in mouse thyroids and inhibits iodide uptake in PCCL3 thyrocytes. Thyroid, 2016. : http://dx.doi.org/10.1089/thy.2016.0182
- Schaper A, Desel H, Ebbecke M, De Haro L, Deters M, Hentschel H, Hermanns-Clausen M, Langer C: Bites and stings by exotic pets in Europe: an 11 year analysis of 404 cases from Northeastern Germany and Southeastern France. Clin Toxicol, 2009; 47 (1): 39-43. : http://dx.doi.org/10.1080/15563650801954875
- Schatz SB, Jungst C, Keitel-Anselmo V, Kubitz R, Becker C, Gerner P, Pfister ED, Goldschmidt I, Junge N, Wenning D, Gehring S, Arens S, Bretschneider D, Grothues D, Engelmann G, Lammert F, Baumann U: Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. Hepatol Commun, 2018; 2 (5): 504-514. : http://dx.doi.org/10.1002/hep4.1149
- Schauer U, Ihorst G, Rohwedder A, Petersen G, Berner R, Frank HD, Forster J, Stephan V: Evaluation of respiratory syncytial virus detection by rapid antigen tests in childhood Klin Padiatr, 2006; 218: 1000-1003.
- Schauer U, Ihorst G, Rohwedder A, Petersen G, Berner R, Frank HD, Forster J, Stephan V Klin Pädiatr 2007;219: Evaluation of respiratory syncytial virus detection by rapid antigen tests in childhood Klin Padiatr, 2007; 219: 212-216.
- Schedel M, Michel S, Gaertner VD, Toncheva AA, Depner M, Binia A, Schieck M, Rieger MT, Klopp N, von Berg A, Bufe A, Laub O, Rietschel E, Heinzmann A, Simma B, Vogelberg C, Genuneit J, Illig T, Kabesch M: Polymorphisms related to ORMDL3 are associated with asthma susceptibility, alterations in transcriptional regulation of ORMDL3, and changes in TH2 cytokine levels. J Allergy Clin Immun, 2015; 136 (4): 893-903.e14. : http://dx.doi.org/10.1016/j.jaci.2015.03.014
- Scheid S, Heinzinger M, Waller CF, Lange W: Bcl-2 mRNA-targeted ribozymes: effects on programmed cell death in chronic myelogenous leukemia cell lines Annals of Hematology, 1998; 76: 117-125.
- Scheidt CE, Heinen F, Nickel T, Rayki O, Wissel J: Spasmodic torticollis - a multicentre study on behavioural aspects.IV. Psychopathology Behav Neurol, 1996; 9: 97-103.
- Scheidt CE, Heinen F, Rayki O, Deuschl G: Clusteranalyse psychopathologischer Charakteristika bei Patienten mit Torticollis spasmodicus. Der Nervenarzt, 1995; 66: 422-430.
- Scheidt CE, Rayki O, Nickel T, Heinen F, Wissel J, Poewe R, Arnold G, Oertel W, Dengler R, Deuschl G: Psychosomatische Aspekte des idiopathischen Torticollis spasmodicus. Resultate einer multizentrischen Studie. Psychotherapie Psychosomatik und Medizinische Psychologie, 1998; 48(1): 1-12.
- Scheidt C E, Rayki O, Nickel T, Heinen F, Wissel J: Spasmodic torticollis - a multicentre study on behavioural aspects. I. An introduction and methods Behav Neurol, 1996; 9: 25-31.
- Schenk-Jaeger KM, Hofer-Lentner KE, Plenert B, Eckart D, Haberl B, Schulze G, Borchert-Avalone J, Stedtler U, Pfab R: No clinically relevant effects in children after accidental ingestion of Panaeolina foenisecii (lawn mower's mushroom). Clin Toxicol, 2017; 55 (3): 217-220. : http://dx.doi.org/10.1080/15563650.2016.1271129 (download: http://www.tandfonline.com/doi/abs/10.1080/15563650.2016.1271129?journalCode=ictx20)
- Schenk T,, Maier B, Hufnagel M,, Strahm B, Kontny U, Neumann-Haefelin D, Falcone V: PERSISTENCE OF HUMAN BOCAVIRUS DNA IN IMMUNOCOMPROMISED CHILDREN. Pediatr Infect Dis J, 2010. (in Druck)
- Scherzinger-Laude K, Schonherr C, Lewrick F, Suss R, Francese G, Rossler J: Treatment of neuroblastoma and rhabdomyosarcoma using RGD-modified liposomal formulations of patupilone (EPO906). Int J Nanomed, 2013; 8: 2197-2211. : http://dx.doi.org/10.2147/IJN.S44025
- Schessl, J, Walter MC, Schreiber G, Schara U, Müller CR, Lochmüller H, Bönnemann CG, Korinthenberg R, Kirschner J: Phenotypic variability in siblings with Calpainopathy (LGMD2A) Acta Myologica, 2008; 27: 54-58.
- Schessl J, Funakoshi K, Susuki K, Gold R, Korinthenberg R: Anti-GT1a IgG Antibodies in a Child with severe Guillin-Barré-Syndrome Pediatr Neurol, 2006; 35 (4): 277-279.
- Schessl J, Goemans NM, Magold AI, Zou Y, Hu Y, Kirschner J, Sciot R, Bönnemann CG: Predominant fiber atrophy and fiber type disproportion in early ullrich disease Muscle Nerve, 2008; 38 (3): 1184-1191.
- Schessl J, Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S: Clinical features of cardiomyopathy in muscular dystrophy Duchenne and Becker-Kiener Neuropediatrics, 2004; 14: 62-62.
- Schessl J, Koga M, Funakoshi K, Kirschner J, Muellges W, Weishaupt A, Gold R, Korinthenberg R: Prospective study on anti-ganglioside antibodies in childhood Guillan-Barré-syndrome Arch Dis Child, 2006; 92: 48-52.
- Schessl J, Korinthenberg R: Das Guillain-Barré Syndrom im Kindesalter - eine prospektive multizentrische Studie zu Ursache und Therapie ellipse, 2004; 1: 1-7.
- Schessl J, Luther B, Kirschner J, Mauff G, Korinthenberg R: Infections and vaccinations preceding childhood Guillain-Barré syndrome: a prospective study Eur J Pediatr, 2006; 165 (9): 605-612.
- Schessl J, Mall V, Velthoven van V, Korinthenberg R: Aszites und Abmagerung bei intrakranieller Raumforderung Monatsschr Kinderh, 2007; 6: 503-504.
- Schessl J, Rose E, Brandis M, Korinthenberg R, Henschen M: Erfolgreiche Therapie eines ausgeprägten obstruktiven Schlaf-Apnoe-Syndroms mit kieferorthopädischen Maßnahmen Monatsschr Kinderh, 2004; 152 Suppl. 1: 240.
- Schessl J, Zou Y, McGrath MJ, Cowling BS, Maiti B, Chin SS, Sewry C, Battini R, Hu Y, Cottle DL, Rosenblatt M, Spruce L, Ganguly A, Kirschner J, Judkins AR, Golden JA, Goebel HH, Muntoni F, Flanigan KM, Mitchell CA, Bönnemann CG: Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy J Clin Invest, 2008; 118 (3): 904-912.
- Schieck M, Schouten JP, Michel S, Suttner K, Toncheva AA, Gaertner VD, Illig T, Lipinski S, Franke A, Klintschar M, Kalayci O, Sahiner UM, Birben E, Melen E, Pershagen G, Freidin MB, Ogorodova LM, Granell R, Henderson J, Brunekreef B, Smit HA, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Genuneit J, Jonigk D, Postma DS, Koppelman GH, Vonk JM, Timens W, Boezen HM, Kabesch M: Doublesex and mab-3 related transcription factor 1 (DMRT1) is a sex-specific genetic determinant of childhood-onset asthma and is expressed in testis and macrophages. J Allergy Clin Immun, 2016; 138 (2): 421-431. : http://dx.doi.org/10.1016/j.jaci.2015.12.1305
- Schindera ST, Mehwald PS, Sahn DJ, Kececioglu D: Accuracy of real-time three-dimensional echocardiography for quantifying right ventricular volume: static and pulsatile flow studies in an anatomic in vitro model. J Ultrasound Med, 2002; 21 (10): 1069-1075.
- Schindler G, Capper D, Meyer J, Janzarik W, Omran H, Herold-Mende C, Schmieder K, Wesseling P, Mawrin C, Hasselblatt M, Louis DN, Korshunov A, Pfister S, Hartmann C, Paulus W, Reifenberger G, von Deimling A: Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma Acta Neuropathol, 2011; 121 (3): 379-405. : http://dx.doi.org/10.1007/s00401-011-0802-6
- Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B: Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. Am J Med Genet A, 2007; 143 (10): 1071-1081.
- Schlegel N,, Bardet V, Kenet G, Muntean W, Zieger B, Nowak-Göttl U;: Diagnostic and therapeutic considerations on inherited platelet disorders in neonates and children. Klin Padiatr, 2010; 222 (3): 209-214.
- Schlensak C, Sarai K, Ihnken K, Gildein HP, Mocellin R, Beyersdorf F: Pulmonary artery banding with a novel percutaneously, bidirectionally adjustable device. Eur J Cardiothorac Surg, 1998. (in Druck)
- Schliephake H, Dard M, Planck H, Hierlemann H, Jakob A: Guided bone regeneration around endosseous implants using a resorbable membrane vs a PTFE membrane. Clin Oral Implan Res, 2000; 11 (3): 230-241.
- Schlune A, Thimm E, Herebian D, Spiekerkoetter U: Single dose NTBC-treatment of hereditary tyrosinemia type I. J Inherit Metab Dis, 2012; 35 (5): 831-836. : http://dx.doi.org/10.1007/s10545-012-9450-9
- Schmaltz C, Harrigan Hardenbergh P, Wells A, Fishes DE: Regulation of proliferation-survival decisons during tumor cell hypoxia. 1998; 18 (5): 2845-2857.
- Schmaltz C, Sauter S, Opitz O, Harms D, Kremens B, Lohner M, Metz K, Brandis M, Niemeyer C: Pleuro-Pulmonary Blastoma: A Case Report and Review of the Literatur. Med. Pediatr. Oncol., 1995; 25: 479-484..
- Schmid I, Haberle B, Albert MH, Corbacioglu S, Frohlich B, Graf N, Kammer B, Kontny U, Leuschner I, Scheel-Walter HG, Scheurlen W, Werner S, Wiesel T, von Schweinitz D: Sorafenib and cisplatin/doxorubicin (PLADO) in pediatric hepatocellular carcinoma. Pediatr Blood Cancer, 2012; 58 (4): 539-544. : http://dx.doi.org/10.1002/pbc.23295
- Schmid MB, Hopfner RJ, Lenhof S, Hummler HD, Fuchs H: Cerebral desaturations in preterm infants: a crossover trial on influence of oxygen saturation target range. Arch Dis Child-fetal, 2013; 98 (5): F392-F398. : http://dx.doi.org/10.1136/archdischild-2012-303136
- Schmid MB, Hopfner RJ, Lenhof S, Hummler HD, Fuchs H: Cerebral oxygenation during intermittent hypoxemia and bradycardia in preterm infants. Neonatology, 2015; 107 (2): 137-146. : http://dx.doi.org/10.1159/000368294
- Schmid MB, Reister F, Mayer B, Hopfner RJ, Fuchs H, Hummler HD: Prospective risk factor monitoring reduces intracranial hemorrhage rates in preterm infants. DTSCH ARZTEBL INT, 2013; 110 (29-30): 489-496. : http://dx.doi.org/10.3238/arztebl.2013.0489
- Schmidt D, Shin YS, Auw-Haedrich C, Tacke U: Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia)and classic galactosaemia associated with Q188R and / or G1391A mutations. Acta Ophthalmol, 2011; 89 (5): 489-494.
- SCHMIDT D, KRÄMER G, ELGER C-E, AMBERGER W, BAUER G, DEBUS O, EGGER J, FEUCHT M, GEIGL J, GROSS-SELBECK G, HAUSER E, HOLTHAUSEN H, KEIMER R, KORINTHENBERG R, KLUGER G, KRATZSCH W, KURLEMANN G, MAMOLI B, RATING D, ROCHEL M, SCHNEBLE H-J, SIEMES H, WIEMER-KRUEL A, WIESER H-G: Empfehlungen zur Überwachung der Epilepsiebehandlung mit Felbamat Nervenheilkunde, 1999; 18: 553-557.
- Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elcioglu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL, Knoers NV, Roepman R, Mitchison HM: Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet, 2013; 50 (5): 309-323. : http://dx.doi.org/10.1136/jmedgenet-2012-101284
- Schmitt B, Albani M, Bast T, Brandl U, Korinthenberg R, Kurlemann G, Neubauer B, Stephani U, Wolff M: Epilepsie im Kindesalter: Wann kann die antiepileptische Therapie abgesetzt werden? Z Epileptol, 2007; 20: 113-119.
- Schmitt B, Hübner A, Klepper J, Korinthenberg R, Kurlemann G, Rating D, Tibussek D, Wohlrab G, Wolff M: Therapie der Blitz-Nick-Salaam-Epilepsie Neuropädiatrie in Klinik und Praxis, 2009; 4: 92-116.
- Schmitz-Abe K, Ciesielski SJ, Schmidt PJ, Campagna DR, Rahimov F, Schilke BA, Cuijpers M, Rieneck K, Lausen B, Linenberger ML, Sendamarai AK, Guo C, Hofmann I, Newburger PE, Matthews D, Shimamura A, Snijders PJ, Towne MC, Niemeyer CM, Watson HG, Dziegiel MH, Heeney MM, May A, Bottomley SS, Swinkels DW, Markianos K, Craig EA, Fleming MD: Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood, 2015; 126 (25): 2734-2738. : http://dx.doi.org/10.1182/blood-2015-09-659854
- Schmolck H, Maritz E, Kletzin I, Korinthenberg R: Neurologic, neuropsychologic and electroencephalographic findings after european tick-borne encephalitis in children J Child Neurol, 2005; 20: 500-508.
- Schnakenburg von C, Fliegauf M, Omran H: Nephrocystin and ciliary defects not only in the kidney? Pediatr Nephrol, 2007; 22 (6): 765-769.
- Schneeberger K, Vogel GF, Teunissen H, van Ommen DD, Begthel H, El Bouazzaoui L, van Vugt AH, Beekman JM, Klumperman J, Muller T, Janecke A, Gerner P, Huber LA, Hess MW, Clevers H, van Es JH, Nieuwenhuis EE, Middendorp S: An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking. P Natl Acad Sci Usa, 2015; 112 (40): 12408-12413. : http://dx.doi.org/10.1073/pnas.1516672112
- Schneider A, Habermehl P, Gerner P, Lausch E, Ballauff A, Wirth S: Alpha-interferon treatment in HBeAg positive children with chronic hepatitis B and associated hepatitis D. Klin Padiatr, 1998; 210 (5): 363-365. : http://dx.doi.org/10.1055/s-2008-1043904
- Schneider E, Keppler R, Prawitt D, Steinwender C, Roos FC, Thuroff JW, Lausch E, Brenner W: Migration of renal tumor cells depends on dephosphorylation of Shc by PTEN. Int J Oncol, 2011; 38 (3): 823-831. : http://dx.doi.org/10.3892/ijo.2010.893
- Schneider E, Keppler R *, Prawitt D, Steinwender C, Roos FC, Thuroff JW, Lausch E, Brenner W: Migration of renal tumor cells depends on dephosphorylation of Shc by PTEN. Int J Oncol, 2011; 38 (3): 823-831. : http://dx.doi.org/10.3892/ijo.2010.893
- Schneider H, Hentschel R, Enderle-Ammour K: Large multiple chorangiomas of the placenta causing acute neonatal respiratory failure.
Case Reports in Perinatal Medicine, 2017; 6 (1) (online). : https://doi.org/10.1515/crpm-2016-0070
- Schneider S, Heinen F, Feifel E, Köster B, Maximov, M, Deuschl G: Langzeitergebnisse der Botulinumtoxinbehandlung. 67.Jahrestagung der Deutschen Gesellschaft für Neurologie un, 1994; 132.
- Schneider S, Heinen F, Feifel E, Köster B, Winter, Th, Maximov M, Deuschl G: Long term results of botulinum toxin treatment. Movement Disorders, 1994; 9(1): 47P209.
- Schnell K, Lehnert W, Deufel T: Der Mittelkettenacyl-CoA-Dehydrogenase-Defekt (MCAD-Mangel). Pediatr Prax, 1996; 50: 425-429.
- Schneppenheim R, Federici AB, Budde U, Castaman G, Dreweke E, Krey S, Mannucci PM, Riesen G, Rodeghiero F, Zieger B, Zimmermann R.: Von Willebrand Disease type "M " Vicenza" in Italien and German patients: identification of the first candidate mutation Thromb Haemostasis, 2000; 83 (1): 136-140.
- Schneppenheim R, Michiels JJ, Obser T, Oyen F, Pieconka A, Schneppenheim S, Will K, Zieger B, Budde U: A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE Blood, 2010; 115 (23): 4894-4901. : http://dx.doi.org/10.1182/blood-2009-07-226324
- Schneppenheim R, Thomas KB, Krey S, Budde U, Jessat, U, Sutor AH, Zieger B: Identification of a candidate missens mutation in a family with von Willebrand disease type IIC. Hum. Genet., 1995; 95: 681-686.
- Schneppenheim R, Thomas KB, Krey S, Budde U, Jessat U, Sutor AH, Zieger B: Identification of a Candidate Missense Mutation in a Family with von Willebrand Disease Type IIC. Hum. Genet., 1995; 95: 681-686.
- Schneppenheim R, Thomas KB, Sutor AH: Von Willebrand Disease in Childhood. Sem Thromb Hemostas, 1995; 21: 261-275.
- Schnittger L, Shayan P, Biermann, R, Mehlhorn H, Gerdes J, Ahmed JS: Molecular genetic characterization and subcellular localization of Theileria annulata mitochondrial heat-shock protein 70 Parasitol Res, 2000; 86: 444-452.
- Schnittger L, Yin H, Jianxun L, Ludwig W, Shayan P, Rahbari S, Voss-Holtmann A, Ahmed JS: Ribosomal small-subunit RNA gene-sequence analysis of Theileria lestoquardi and and a Theileria species highly pathogenic for small ruminants in China Parasitol Res, 2000; 86: 352-358.
- Scholl-Bürgi S, Korman SH, Applegarth DA, Karall D, Lillquist Y, Heinz-Erian P, Davidson AG, Haberlandt E, Sass JO: The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'. J Inherit Metab Dis, 2008; 31 (3): 395-398. : http://dx.doi.org/10.1007/s10545-008-0796-y
- Scholl-Bürgi S, Sass JO, Heinz-Erian P, Amann E, Haberlandt E, Albrecht U, Ertl C, Sigl SB, Lagler F, Rostasy K, Karall D: Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. Amino Acids, 2010; 38 (5): 1473-1481. : http://dx.doi.org/10.1007/s00726-009-0356-2
- Scholl-Bürgi S, Sass JO, Zschocke J, Karall D: Amino acid metabolism in patients with propionic acidaemia. J Inherit Metab Dis, 2012; 35 (1): 65-70. : http://dx.doi.org/10.1007/s10545-010-9245-9
- Scholl-Bürgi S, Sass JO,, Zschocke J, Karall D.: Amino acid metabolism in patients with propionic acidaemia. J Inherit Metab Dis, 2010. (in Druck)
- Schonhofer B, Geiseler J, Dellweg D, Moerer O, Barchfeld T, Fuchs H, Karg O, Rosseau S, Sitter H, Weber-Carstens S, Westhoff M, Windisch W: S2k-Guideline "Prolonged Weaning". Pneumologie, 2015; 69 (10): 595-607. : http://dx.doi.org/10.1055/s-0034-1392809
- Schorling DC, Dietel T, Evers C, Hinderhofer K, Korinthenberg R, Ezzo D, Bonnemann CG, Kirschner J: Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature. Neuropediatrics, 2017; 48 (5): 371-377. : http://dx.doi.org/10.1055/s-0037-1603977
- Schorling DC, Kirschner J, Bonnemann CG: Congenital Muscular Dystrophies and Myopathies: An Overview and Update. Neuropediatrics, 2017; 48 (4): 247-261. : http://dx.doi.org/10.1055/s-0037-1604154
- Schorling DC, Rost S, Lefeber DJ, Brady L, Muller CR, Korinthenberg R, Tarnopolsky M, Bonnemann CG, Rodenburg RJ, Bugiani M, Beytia M, Kruger M, van der Knaap M, Kirschner J: Early and lethal neurodegeneration with myasthenic and myopathic features: A new ALG14-CDG. Neurology, 2017; 89 (7): 657-664. : http://dx.doi.org/10.1212/WNL.0000000000004234
- Schrappe M, Reiter A, Henze G, Niemeyer C, Bode U, Kühl J, Gadner H, Havers W, Plüss H, Kornhuber B, Zintl F, Ritter J, Urban C, Niethammer D, Riehm H: Prevention of CNS recurrence in childhood ALL: Results with reduced radiotherapy combined with CNS-directed chemotherapy in four consecutive ALL-BFM trials Klin Pädiatr, 1998; 210: 192-199.
- Schrappe M, Reiter A, Ludwig WD, Harbott J, Zimmermann M, Hiddemann W, Niemeyer C, Henze G, Feldges A, Zintl F, Kornhuber B, Ritter J, Welte K, Gadner H, and Riehm H: Inproved outcome in childhood ALL despite reduced use of anthracyclines and of cranial radiotherapy: Results of trial ALL-BFM 90. Blood, 2000; 95 (11): 3310-3322.
- Schraub S., R. Meinert, J. Kuehr, T. Frischer: Prävalenz und Inzidenz von Atemwegserkrankungen und Allergien bei Schulkindern. Ergebnisse einer dreijährigen Kohortenstudie in Südwestdeutschland. Z f Gesundheitswiss, 1994; 2/3: 219-32..
- Schreck D, Glanzmann G, Sauter S, Niemeyer C.: Begleitung zur Bestrahlung. Eine Aufgabe des Psychosozialen Teams. Klin Pädiatr, 1994; 206: 303-305..
- Schreiber R., Hopf A., Mall M., Greger R., Kunzelmann K.: The first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator is important for inhibition of the ephithelial Na+ channel. Proc. Natl. Acad. Sci.USA, 1999; 96: 5310-5315.
- Schrettl V, Felgenhauer N, Rabe C, Fernando M, Eyer F: L-Arginine in the treatment of valproate overdose - five clinical cases. Clin Toxicol, 2017; 55 (4): 260-266. : http://dx.doi.org/10.1080/15563650.2017.1284333
- Schromm AB, Lien E, Henneke P, Chow JC, Yoshimura A, Heine H, Latz E, Monks BG, Schwartz DA, Miyake K, Golenbock DT: Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling. J Exp Med, 2001; 194 (1): 79-88.
- Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, Zenker M, Niemeyer CM, Molven A, Shannon K: Biochemical and functional characterization of germ line KRAS mutations. Mol Cell Biol, 2007; 27 (22): 7765-7770. : http://dx.doi.org/10.1128/MCB.00965-07
- Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP: Germline KRAS mutations cause Noonan syndrome. Nat Genet, 2006; 38 (3): 331-336. : http://dx.doi.org/10.1038/ng1748
- Schubert K, von Bonnsdorf H, Burke M, Ahlert I, Braun S, Berner R, Deichmann KA, Heinzmann A: A comprehensive candidate gene study on bronchial asthma and juvenile idiopathic arthritis. Dis Markers, 2006; 22 (3): 127-132.
- Schubert S, Schmitz T, Weiss M, Nagdyman N, Huebler M, Alexi-Meskishvili V, Berger F, Stiller B: Continuous, non-invasive techniques to determine cardiac output in children after cardiac surgery: evaluation of transesophageal Doppler and electric velocimetry. J Clin Monit Comput, 2008; 22 (4): 299-307. : http://dx.doi.org/10.1007/s10877-008-9133-0
- Schubert T, Trippel M, Tacke U, van Velthoven V, Gumpp V, Bartelt S, Ostertag C, Nikkhah G: Neurosurgical treatment strategies in childhood craniopharyngiomas: is less more? Child Nerv Syst, 2009; 25 (11): 1419-1427.
- Schuermann MJ, Otto E, Becker A, Saar K, Ruschendorf F, Polak BC, Ala-Mello S, Hoefele J, Wiedensohler A, Haller M, Omran H, Nurnberg P, Hildebrandt F: Mapping of gene loci for nephronophthisis type 4 and Senior-Loken syndrome, to chromosome 1p36. Am J Hum Genet, 2002; 70 (5): 1240-1246.
- Schuetze GE, Forster J, Hauk PJ, Friedl K, Kuehr J: Bee-venom allergy in children: Long term predictive value of standardized challenge tests. Immunol Pediatr Allergy Immu, 2002; 13: 18-23.
- Schule R, Holland-Letz T, Klimpe S, Kassubek J, Klopstock T, Mall V, Otto S, Winner B, Schols L: The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity Neurology, 2006; 8 (67): 430-434.
- Schuler F, Afreen S, Manzl C, Hacker G, Erlacher M, Villunger A: Checkpoint kinase 1 is essential for fetal and adult hematopoiesis. Embo Rep, 2019; 20 (8): e47026-e47026. : http://dx.doi.org/10.15252/embr.201847026
- Schultz RK, Baker KS, Boelens JJ, Bollard CM, Egeler RM, Cowan M, Ladenstein R, Lankester A, Locatelli F, Lawitschka A, Levine JE, Loh M, Nemecek E, Niemeyer C, Prasad VK, Rocha V, Shenoy S, Strahm B, Veys P, Wall D, Bader P, Grupp SA, Pulsipher MA, Peters C: Challenges and opportunities for international cooperative studies in pediatric hematopoeitic cell transplantation: priorities of the Westhafen Intercontinental Group. Biol Blood Marrow Tr, 2013; 19 (9): 1279-1287. : http://dx.doi.org/10.1016/j.bbmt.2013.07.006
- Schulze A,, Rieger-Fackeldey E, Gerhardt T, Claure N, Everett R, Bancalari E: Randomized crossover comparison of proportional assist ventilation and patient-triggered ventilation in extremely low birth weight infants with evolving chronic lung disease. Neonatology, 2007; 91 (1): 1-7.
- Schulze-Bonhage A, Feil B, Zieger B: Perioperative Risiken und Therapie bei Epilepsiepatienten. Aktuel Neurol, 2004; 31: 79-85.
- Schumacher M, Dupuy P, Bartoli JM, Ernemann U, Herbreteau D, Ghienne C, Guibaud L, Loose DA, Mattassi R, Petit P, Rossler JK, Stillo F, Weber J: Treatment of venous malformations: First experience with a new sclerosing agent A multicenter study. Eur J Radiol, 2011; 80 (3): e366-e372. : http://dx.doi.org/10.1016/j.ejrad.2010.12.074
- Schumacher RF., Forster J.: The CNS symptoms of rotavirus infections under the age of two. Klin. Pädiatr., 1999; 211(2): 61-64.
- Schumann S, Krappitz M, Moller K, Hentschel R, Braun G, Guttmann J: Pressure loss caused by pediatric endotracheal tubes during high-frequency-oscillation-ventilation. Resp Physiol Neurobi, 2008; 162 (2): 132-137. : http://dx.doi.org/10.1016/j.resp.2008.05.005
- Schuster E, Hopfer H, Henschen M,, Pohl M: Pulmo-renales Syndrom bei 14-jähriger Patientin (p-ANCA assoziierte Vaskulitis). Pädiatrische Praxis, 2011; 76: 481-489.
- Schuster K, Goelz R, Speckmann C, Henneke P: Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified? Pediatr Infect Dis J, 2017; 36 (2): 224-227. : http://dx.doi.org/10.1097/INF.0000000000001407
- Schuster K, Goelz R, Speckmann C*, Henneke P*: Symptomatic Cytomegalovirus Infections in the First Year of Life: When Is Antiviral Therapy Conceived to Be Justified? Pediatr Infect Dis J, 2017; 36 (2): 224-227. : http://dx.doi.org/10.1097/INF.0000000000001407
- Schuster K,, Hopfer H, Henschen M, Pohl M: Pulmo-renales Syndrom bei einer 14-jährigen Patientin; p-ANCA assoziierte Vaskulitis Pädiatrische Praxis, 2010; 76: 481-489.
- Schütz E, Armstrong VW, Shipkova M, Weber L, Niedmann PD, Lammersdorf, Wiesel M, Mandelbaum A, Zimmerhackl LB, Mehls O, Tönshoff B, Oellerich M, and the members of the german: Limited sampling strategy for the determination of mycophenolic acid area under the curve in pediatric kindney recipients Transplant P., 1998; 30: 1182-1184.
- Schütze G, Kühr J, Henschen M, Forster J, Rückauer KD, Brandis M: Akut- und Spätverlauf bei angeborenen Zwerchfelldefekten. Monatsschr Kinderheilkd, 1997.
- Schutze G., Storm van´s Gravesande K., Sparholt S., Frischer T. Kuehr J.: Comparison between serial skin-prick testsand specific serum immunoglobulin E to mite allergens. Pediatr. Allergy Immunology, 1999; 10: 138-142.
- Schutzle H, Weigl J, Puppe W, Forster J, Berner R: Diagnostic performance of a rapid antigen test for RSV in comparison with a 19-valent multiplex RT-PCR ELISA in children with acute respiratory tract infections. Eur J Pediatr, 2008; 167 (7): 745-749. : http://dx.doi.org/10.1007/s00431-007-0581-1
- Schützle H, Forster J, Superti-Furga A, Berner R: Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis. Eur J Pediatr, 2009; 168 (9): 1117-1124. : http://dx.doi.org/10.1007/s00431-008-0899-3
- Schützle H, Weigl JA, Puppe W, Forster J, Berner R: Diagnostic performance of a RSV rapid antigen test in comparison with a 19 valent multiplex-RT-PCR-ELISA in children with acute respiratory tract infections. Eur J Pediatr, 2008; 167: 145-149.
- Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL,, Niggemann B, Omran H, Antonarakis SE, Bartoloni L: Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 Mutations. Hum Mutat, 2008; 29 (2): 289-298.
- Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L: Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat, 2008; 29 (2): 289-298.
- Schwab KO: Vaskuläres Risiko bei Kindern und Jugendlichen mit Typ 1– Diabetes Med Review, 2007; 7: 8-9.
- Schwab KO: Evidence-based procedures for the treatment of diseases associated with childhood obesity
Bundesgesundheitsbla, 2013; 56 (4): 551-554. : http://dx.doi.org/10.1007/s00103-012-1635-8
- Schwab KO: Atherosklerose bei Kindern und Jugendlichen mit Diabetes mellitus Typ 1: Frühzeitige Diagnose wichtig. Cardio Vasc, 2014; 14 (3): 2-3.
- Schwab KO: Typ 1 Diabetes: Gefäßschäden bei Kindern und Jugendlichen. Allgemeinarzt, 2014; 13: 4-6.
- Schwab KO, Breitung B, Stockhausen HB: Inappropriate secretion of umbilical catecholamines in preterm compared to term neonates. J. Perinat. Med., 1996; 24: 373-380.
- Schwab KO, Doerfer J, Hallermann K, Krebs A, Schorb E, Krebs K, Winkler K: Marked smoking-associated increase of cardiovascular risk in childhood type 1 diabetes. Int J Adolesc Med Health, 2008; 20 (3): 285-292.
- Schwab KO, Doerfer J, Hecker W, Grulich-Henn J, Wiemann D, Kordonouri O, Beyer P, Holl RW: Spectrum and prevalence of atherogenic risk factors in 27,358 children, adolescents, and young adults with type 1 diabetes: cross-sectional data from the German diabetes documentation and quality management system (DPV). Diabetes Care, 2006; 29 (2): 218-225.
- Schwab KO, Doerfer J, Holl RW for the DPV Study Group: Childhood Diabetes in Germany and Austria. Earlier identification and timly treatment of risk factors may prevent future cardiovascular events. J Diabetic Microvascular Complications Today 3, 2006; 2: 16-19.
- Schwab KO, Doerfer J, Hungele A, Scheuing N, Krebs A, Dost A, Rohrer TR, Hofer S, Holl RW: Non-High-Density Lipoprotein Cholesterol in Children with Diabetes: Proposed Treatment Recommendations Based on Glycemic Control, Body Mass Index, Age, Sex, and Generally Accepted Cut Points. J Pediatr-us, 2015; 167 (6): 1436-1439. : http://dx.doi.org/10.1016/j.jpeds.2015.09.006
- Schwab KO, Doerfer J, Hungele A, Scheuing N, Krebs A, Dost A, Rohrer TR, Hofer S, Holl RW: Non-High-Density Lipoprotein Cholesterol in Children with Diabetes: Proposed Treatment Recommendations Based on Glycemic Control, Body Mass Index, Age, Sex, and Generally Accepted Cut Points. J Pediatr, 2015; 167 (6): 1436-1439. : http://dx.doi.org/10.1016/j.jpeds.2015.09.006
- Schwab KO, Doerfer J, Krebs A, Krebs K, Schorb E, Hallermann K, Superti-Furga A, Zieger B, März W, Schmidt-Trucksäss A, Winkler K: Early atherosclerosis in childhood type 1 diabetes: role of raised systolic blood pressure in the absence of dyslipidaemia. Eur J Pediatr, 2007; 166 (6): 541-548.
- Schwab KO, Doerfer J, Krebs A, Schmidt-Trucksäss A, Holl RW: Lipide und deren Einfluss auf Gefäßveränderungen bei Kindern und Jugendlichen. Diebetes Forum, 2014; 1: 30-32.
- Schwab KO, Doerfer J, Krebs A, Schmidt-Trucksäss A, Holl RW: Dyslipidämie und makrovaskuläre Veränderungen bei Kindern und Jugendlichen mit Typ 1 Diabetes mellitus: Früher an später denken. Ärztewoche, 2014; 23 (1): 18.
- Schwab KO, Doerfer J, Naeke A, Rohrer T, Wiemann D, Marg W, Hofer SE, Holl RW, German/Austrian Pediatric DPV Initiative: Influence of food intake, age, gender, HbA1c, and BMI levels on plasma cholesterol in 29,979 children and adolescents with type 1 diabetes--reference data from the German diabetes documentation and quality management system (DPV). Pediatr Diabetes, 2009; 10 (3): 184-192.
- Schwab KO, Doerfer J, Scheidt-Nave C, Kurth BM, Hungele A, Scheuing N, Krebs A, Dost A, Rohrer TR, Schober E, Holl RW: Algorithm-based cholesterol monitoring in children with type 1 diabetes. J Pediatr-us, 2014; 164 (5): 1079-1084. : http://dx.doi.org/10.1016/j.jpeds.2013.12.038
- Schwab KO, Gerlich M, Broecker M, Söhlemann P, Derwahl M, Lohse MJ: Constitutively active germline mutation of the TSH receptor gene as a cause of congenital hyperthyroidism J. Pediatr., 1997; 131: 899-904.
- Schwab KO, Leichtenschlag EM, Martin C, Bartels H: Häufiges Fehlen der autonomen Unterzuckerungssymptomatik bei Kindern und Jugendlichen mit Typ 1-Diabetes mellitus. Monatsschr. Kinderh., 1997; 145: 120-127.
- Schwab KO, Menche U, Schmeisl G, Lohse MJ: Hypoglycemia-dependent beta2-adrenoceptor downregulation: a contributing factor to hypoglycemia unawareness in patients with Type-1 diabetes? Horm Res, 2004; 62 (3): 137-141.
- Schwab KO, Pfarr N, van der Werf-Grohmann N, Pohl M, Rädecke J, Musholt T, Pohlenz J: Autonomous thyroid adenoma: only an adulthood disease? J Pediatr, 2009; 154 (6): 931-933.
- Schwab KO, Söhlemann P, Gerlich M, Broecker M, von Petrykowski W, Holzapfel HP, Paschke R, Grüters A, Derwahl M: Mutations of the TSH Receptor as Cause of Congenital Hyperthyroidism. Clin Exp Endocrinol Diab, 1996; 104 Suppl 4: 124-128.
- Schwab KO, Winkler K, Klör HU: Hypercholesterinämie und Hepatomegalie: Leitsymptome der Cholesterinester-Speichererkrankung. Cardio Vasc, 2014; 14 (2): 1.
- Schwab KO, Doerfer J, Hecker W, Grulich-Henn J, Wiemann D, Beyer P, RW Holl: Spectrum of atherogenic risk factors in 27,358 children, adolescents and young adults with typ1 diabetes Cross-sectional data from the German diabetes documentation and quality management system DPV. Diabetes Care, 2005. (in Druck)
- Schwab KO, Doerfer J, Holl RW: Kardiovaskuläres Risiko bei Kindern und Jugendlichen mit Diabetes mellitus Typ 1: Früher an später denken ! Diabetes, Stoffwechsel und Herz, 2007; 4: 271-277.
- Schwab KO, Moisan AM, Homoki J, Peter M, Simard J: 17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. Journal of pediatric endocrinology & metabolism, 2005; 18 (4): 403-411.
- Schwab KO, Schmidt-Trucksäß A, Krebs A, Krebs K, Merz W, Brandis M, Sutor A: Riskofaktoren für eine Atherosklerose und deren Erfassung bei Kindern und Jugendlichen mit Typ 1 Diabetes mellitus. Pädiatrische Praxis, 2005; 66: 273-283.
- Schwab L*, Goroncy L*, Palaniyandi S*, Gautam S, Triantafyllopoulou A, Mocsai A, Reichardt W, Karlsson FJ, Radhakrishnan SV, Hanke K, Schmitt-Graeff A, Freudenberg M, von Loewenich FD, Wolf P, Leonhardt F, Baxan N, Pfeifer D, Schmah O, Schonle A, Martin SF, Mertelsmann R, Duyster J, Finke J, Prinz M, Henneke P, Hacker H, Hildebrandt GC*, Hacker G*, Zeiser R*: Neutrophil granulocytes recruited upon translocation of intestinal bacteria enhance graft-versus-host disease via tissue damage. Nat Med, 2014; 20 (6): 648-654. : http://dx.doi.org/10.1038/nm.3517
- Schwab M, Zanger UM, Marx C, Schaeffeler E, Klein K, Dippon J, Kerb R, Blievernicht J, Fischer J, Hofmann U, Bokemeyer C, Eichelbaum M: Role of genetic and nongenetic factors for fluorouracil treatment-related severe toxicity: a prospective clinical trial by the German 5-FU Toxicity Study Group. J Clin Oncol, 2008; 26 (13): 2131-2138. : http://dx.doi.org/10.1200/JCO.2006.10.4182
- Schwartz JR, Wang S, Ma J, Lamprecht T, Walsh M, Song G, Raimondi SC, Wu G, Walsh MF, McGee RB, Kesserwan C, Nichols KE, Cauff BE, Ribeiro RC, Wlodarski M, Klco JM: Germline SAMD9 mutation in siblings with monosomy 7 and myelodysplastic syndrome. Leukemia, 2017; 31 (8): 1827-1830. : http://dx.doi.org/10.1038/leu.2017.142
- Schwarz G, Santamaria-Araujo JA, Wolf S, Lee HJ, Adham IM, Grone HJ, Schwegler H, Sass JO, Otte T, Hanzelmann P, Mendel RR, Engel W, Reiss J: Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli. Hum Mol Genet, 2004; 13 (12): 1249-1255.
- Seeger K, Adams H-P, Buchwald D, Beyermann V, Havers W, Niemeyer C, Ritter J, Kornhuber B, Janka-Schaub G, Riehm H, Henze G: TEL-AML1 transcript in relapsed childhood acute lymphoblastic leukemia Blood, 1998; 91: 1716-1722.
- Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, Korall H, Roskos M, Deufel T, Trefz KF, Sewell AC, Kauf E, Zintl F, Lehnert W, Gregersen N.: Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. J Inherit Metab Dis, 2003; 26: 37-42.
- Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S: The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity. J Allergy Clin Immunol Pract, 2019; 7 (6): 1763-1770. : http://dx.doi.org/10.1016/j.jaip.2019.02.004
- Seidemann K, Tiemann M, Lauterbach I, Mann G, Simonitsch I, Stankewitz K, Schrappe M, Zimmermann M, Niemeyer C, Parwaresch R, Riehm H, Reiter A: Primary mediastinal large B-cell lymphoma with sclerosis in pediatric and adolescent patients: treatment and results from three therapeutic studies of the Berlin-Frankfurt-Münster Group. J Clin Oncol, 2003; 21 (9): 1782-1789.
- Seiffert A, Schneider M, Roessler J, Larisch K, Pfeiffer D: Incidence, Treatment Patterns, and Health Care Costs of Infantile Hemangioma: Results of a Retrospective German Database Analysis. Pediatr Dermatol, 2017; 34 (4): 450-457. : http://dx.doi.org/10.1111/pde.13187
- Selke K, Muller A, Kukley M, Schramm J, Dietrich D: Firing pattern and calbindin-D28k content of human epileptic granule cells. Brain Res, 2006; 1120 (1): 191-201.
- Senderek J, Bergmann C, Weber S, Ketelsen U, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K: Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Carcot-Marie-Tooth neuropathy type 4B2/11p15 Hum Mol Genet, 2003; 12: 349-356.
- Senderek J, Muller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hubner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmuller H: Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am J Hum Genet, 2011; 88 (2): 162-172. : http://dx.doi.org/10.1016/j.ajhg.2011.01.008
- Serwas NK, Huemer J, Dieckmann R, Mejstrikova E, Garncarz W, Litzman J, Hoeger B, Zapletal O, Janda A, Bennett KL, Kain R, Kerjaschky D, Boztug K: CEBPE-Mutant Specific Granule Deficiency Correlates With Aberrant Granule Organization and Substantial Proteome Alterations in Neutrophils. Front Immunol, 2018; 9 (online): 588-588. : http://dx.doi.org/10.3389/fimmu.2018.00588
- Severin S, Zieger B, Sutor AH: Anticoagulation with recombinant hirudin and danaparoid sodium in pediatric patients. Semin Thromb Hemost, 2002; 28: 447-454.
- Severin T, Zieger B, Sutor AH: Anticoagulation with recombinant hirudin and danaparoid sodium in pediatric patients. Semin Thromb Hemost, 2002; 28 (5): 447-454.
- Seydewitz H.H., Müller H., Hautz J., Schumacher H., Witt I.: Vorkommen der Hauptmutation F508 und weiterer 4 Mutationen bei Patienten mit zystischer Fibrose in Südbaden. Monatsschr Kinderheilkd, 1994; 142: 106-109.
- Seydewitz H.H., Müller H., Witt I.: Novel Missense Mutation S108F in Exon 4 of the CFTR Gene. Hum. Mutat., 1995; 6: 278.
- Seydewitz HH, Gonska T, Mall M, Kuehr J: A novel frameshift mutation, c. 1870delG, in exon12 of the CFTR gene. Hum Mutat, 2000: 277.
- Seydewitz HH, Henschen M, Kuhnel W, Brandis M.: Pediatric reference ranges for osteocalcin measured by the Immulite analyzer Clin Chem Lab Med, 2001; 39 (10): 980-982.
- Seydewitz HH, Mall M, Kühr J: A novel missense mutation, S1159F, in exon 19 of the CFTR gene.
Mutation and Polymorphism Report Nr 107 Online Hum Mutat, 2000; 15: 390.
- Seydewitz HH., Matern D.: Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection and 5 novel mutations. Human Mutation; Mutation in brief, 1999: 282 online.
- Shafqat N, Kavanagh KL, Sass JO, Christensen E, Fukao T, Lee WH, Oppermann U, Yue WW: A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. J Inherit Metab Dis, 2013; 36 (6): 983-987. : http://dx.doi.org/10.1007/s10545-013-9589-z
- Shahanavaz S, Asnes JD, Grohmann J, Qureshi AM, Rome JJ, Tanase D, Crystal MA, Latson LA, Morray BH, Hellenbrand W, Balzer DT, Gewillig M, Love JC, Berdjis F, Gillespie MJ, McElhinney DB: Intentional Fracture of Bioprosthetic Valve Frames in Patients Undergoing Valve-in-Valve Transcatheter Pulmonary Valve Replacement. Circ-cardiovasc Inte, 2018; 11 (8): e006453-e006453. : http://dx.doi.org/10.1161/CIRCINTERVENTIONS.118.006453
- Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS: A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet, 2015; 24 (5): 1410-1419. : http://dx.doi.org/10.1093/hmg/ddu555
- Sharma V, Michel S, Gaertner V, Franke A, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Frischer T, Genuneit J, Zeilinger S, Illig T, Schedel M, Potaczek DP, Kabesch M: Fine-mapping of IgE-associated loci 1q23, 5q31, and 12q13 using 1000 Genomes Project data. Allergy, 2014; 69 (8): 1077-1084. : http://dx.doi.org/10.1111/all.12431
- Sharma V, Michel S, Gaertner V, Franke A, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Frischer T, Genuneit J, Potaczek DP, Kabesch M: A role of FCER1A and FCER2 polymorphisms in IgE regulation. Allergy, 2014; 69 (2): 231-236. : http://dx.doi.org/10.1111/all.12336
- Shayan P., Gerlach G., Hügel FU., Kay G., Campbell JDM., Gerdes J., Ahmed JS.: Proliferation-associated nuclear protein Ki-67 in the bovine system: Partial characterisation and its application for the determination of the proliferation of Theileria-infected bovine lymphoblastoid cells. Parasitol Res., 1999; 85 (8-9): 613-620.
- Shayan P., Schip B., Conze G., Schein E., Ahmed JS.: Is interleukin 2 necessary for the autocrine proliferation of Theileria-infected bovine cells? Parasitol. Res., 1999; 85: 409-412.
- Shoemark A, Moya E, Hirst RA, Patel MP, Robson EA, Hayward J, Scully J, Fassad MR, Lamb W, Schmidts M, Dixon M, Patel-King RS, Rogers AV, Rutman A, Jackson CL, Goggin P, Rubbo B, Ollosson S, Carr S, Walker W, Adler B, Loebinger MR, Wilson R, Bush A, Williams H, Boustred C, Jenkins L, Sheridan E, Chung EMK, Watson CM, Cullup T, Lucas JS, Kenia P, O'Callaghan C, King SM, Hogg C, Mitchison HM: High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax, 2018; 73 (2): 157-166. : http://dx.doi.org/10.1136/thoraxjnl-2017-209999
- Siepe M, Dittrich S, Beyersdorf F, Schlensak C: Aortic atresia with aortico-left ventricular tunnel mimicking severe aortic incompetence in utero. Eur J Cardio-thorac, 2006; 29 (5): 845-847.
- Sifrim A, Hitz MP, Wilsdon A, Breckpot J, Turki SH, Thienpont B, McRae J, Fitzgerald TW, Singh T, Swaminathan GJ, Prigmore E, Rajan D, Abdul-Khaliq H, Banka S, Bauer UM, Bentham J, Berger F, Bhattacharya S, Bu'Lock F, Canham N, Colgiu IG, Cosgrove C, Cox H, Daehnert I, Daly A, Danesh J, Fryer A, Gewillig M, Hobson E, Hoff K, Homfray T, Kahlert AK, Ketley A, Kramer HH, Lachlan K, Lampe AK, Louw JJ, Manickara AK, Manase D, McCarthy KP, Metcalfe K, Moore C, Newbury-Ecob R, Omer SO, Ouwehand WH, Park SM, Parker MJ, Pickardt T, Pollard MO, Robert L, Roberts DJ, Sambrook J, Setchfield K, Stiller B, Thornborough C, Toka O, Watkins H, Williams D, Wright M, Mital S, Daubeney PE, Keavney B, Goodship J, Abu-Sulaiman RM, Klaassen S, Wright CF, Firth HV, Barrett JC, Devriendt K, FitzPatrick DR, Brook JD, Hurles ME: Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. Nat Genet, 2016; 48 (9): 1060-1065. : http://dx.doi.org/10.1038/ng.3627
- Silberer J, Ihorst G, Kopp MV: Cytokine levels in supernatants of whole blood and mononuclear cell cultures in adults and neonates reveal significant differences with respect to interleukin-13 and interferon-gamma. Pediatr Allergy Immu, 2008; 19 (2): 140-147. : http://dx.doi.org/10.1111/j.1399-3038.2007.00605.x
- Singh PK, Verma SK, Ojha SK, Panda PK, Srichandan H, Jha E, Mishra S: Intrinsic molecular insights to enhancement of biogas production from kitchen refuse using alkaline-microwave pretreatment. Sci Rep-uk, 2019; 9 (1): 5968-5968. : http://dx.doi.org/10.1038/s41598-019-42471-9
- Siva K, Ek F, Chen J, Ghani Alattar A, Sigmundsson K, Olsson R, Wlodarski M, Lundback T, Flygare J: A Phenotypic Screening Assay Identifies Modulators of Diamond Blackfan Anemia. Slas Discov, 2019; 24 (3): 304-313. : http://dx.doi.org/10.1177/2472555218823531
- Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT: Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation. Eur J Hum Genet, 2004; 12 (6): 424-432.
- Sjögren SE, Siva K, Soneji S, George AJ, Winkler M, Jaako P, Wlodarski M, Karlsson S, Hannan RD, Flygare J: Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia. Brit J Haematol, 2015; 171 (4): 517-529. : http://dx.doi.org/10.1111/bjh.13632.
- Skerlien B, Lehnert W, Katkevien S, Jakutovi M, Maliknas A, Tamaãauskas P: [Fatty acid oxidation defects and organic acidemias in children with myopathic syndromes.] Reumatologijos Seminarai, 2001; 4: 17-21.
- Skerliene B, Lehnert W, Jakutovic M, Malikenas A, Stukas A: Pirmasis 3-hidroksi-3-metilgliutaril-koenzimo A (HMG-KoA) liazės deficito atvejis Lietuvoje.
(The first case of 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Lithuania) Pediatrija, 2003; 4: 33-38.
- Skinner JE, Driscoll SW, Porter CB, Brands CK, Pianosi PT, Kuntz NL, Nelson DE, Burkhardt BE, Bryant SC, Fischer PR: Orthostatic heart rate and blood pressure in adolescents: reference ranges. J Child Neurol, 2010; 25 (10): 1210-1215. : http://dx.doi.org/10.1177/0883073809359539
- Sly PD, Tepper R, Henschen M, Gappa M, Stocks J: Tidal forced expirations. ERS/ATS Task Force on Stndards for Infant Respiratory Function Testing. European Respiratory Society / American Thoracic Society. Eur Respir J, 2000; 16 (4): 741-748.
- Smid HG, Jakob A, Heinze HJ: The organization of multidimensional selection on the basis of color and shape: an event-related brain potential study. Percept Psychophys, 1997; 59 (5): 693-713.
- Smid HG, Jakob A, Heinze HJ: An event-related brain potential study of visual selective attention to conjunctions of color and shape. Psychophysiology, 1999; 36 (2): 264-279.
- Smith D, Helgason H, Sulem P, Bjornsdottir US, Lim AC, Sveinbjornsson G, Hasegawa H, Brown M, Ketchem RR, Gavala M, Garrett L, Jonasdottir A, Jonasdottir A, Sigurdsson A, Magnusson OT, Eyjolfsson GI, Olafsson I, Onundarson PT, Sigurdardottir O, Gislason D, Gislason T, Ludviksson BR, Ludviksdottir D, Boezen HM, Heinzmann A, Krueger M, Porsbjerg C, Ahluwalia TS, Waage J, Backer V, Deichmann KA, Koppelman GH, Bonnelykke K, Bisgaard H, Masson G, Thorsteinsdottir U, Gudbjartsson DF, Johnston JA, Jonsdottir I, Stefansson K: A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma. Plos Genet, 2017; 13 (3): e1006659-e1006659. : http://dx.doi.org/10.1371/journal.pgen.1006659
- Smith ML, Kontny HU, Bortnick R, Fornace AJ Jr: The p53-regulated cyclin G gene promotes call growth: p53 downstream effectors cyclin G and Gadd45 exert different effects on cisplatin chemosensitivity. Exp Cell Res, 1997; 230: 61-68.
- Smith ML, Kontny HU, Bortnick R, Fornace AJ Jr: The p53-regulated cyclin G gene promotes cell growth: p53 downstream effectors cyclin G and Gadd45 exert different effects on cisplatin chemosensitivity. Exp Cell Res, 1997; 230 (1): 61-68. : http://dx.doi.org/10.1006/excr.1996.3402
- Smith ML, Kontny HU, Zhan Q, Sreenath A, O'Connor PM, Fornace AJ Jr: Antisense GADD45 expression results in decreased DNA repair and sensitizes cells to u.v.-irradiation or cisplatin. Oncogene, 1996; 13 (10): 2255-2263.
- Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO: The molecular basis of aminoacylase 1 deficiency. Bba-mol Basis Dis, 2011; 1812 (6): 685-690. : http://dx.doi.org/10.1016/j.bbadis.2011.03.005
- Sommer A, Sass JO: Expression of aspartoacylase (ASPA) and Canavan disease. Gene, 2012; 505 (2): 206-210. : http://dx.doi.org/10.1016/j.gene.2012.06.036
- Soni N, Swain SK, Kant R, Singh A, Ravichandran R, Verma SK, Panda PK, Suar M: Landscape of ROD9 Island: Functional annotations and biological network of hypothetical proteins in Salmonella enterica. Comput Biol Chem, 2019; 83: 107110-107110. : http://dx.doi.org/10.1016/j.compbiolchem.2019.107110
- Sonntag A, Bischkopf J, Ritz A, Jakob A, Angermeyer MC: [Wishes of nursing home residents concerning their life situation-results of a qualitative study]. Z Gerontol Geriatr, 2003; 36 (4): 280-286. : http://dx.doi.org/10.1007/s00391-003-0093-1
- Spangenberg C, Lausch EU, Trost TM, Prawitt D, May A, Keppler R, Fees SA, Reutzel D, Bell C, Schmitt S, Schiffer IB, Weber A, Brenner W, Hermes M, Sahin U, Tureci O, Koelbl H, Hengstler JG, Zabel BU: ERBB2-mediated transcriptional up-regulation of the alpha5beta1 integrin fibronectin receptor promotes tumor cell survival under adverse conditions. Cancer Res, 2006; 66 (7): 3715-3725. : http://dx.doi.org/10.1158/0008-5472.CAN-05-2823
- Spangenberg C, Lausch EU, Trost TM, Prawitt D, May A, Keppler R, Fees SA, Reutzel D, Bell C, Schmitt S, Schiffer IB, Weber A, Brenner W, Hermes M, Sahin U, Türeci Ö, Koelbl H, Hengstler JG,, Zabel BU: ERBB2-mediated transcriptional upregulation of the alpha5/beta1 integrin fibronectin receptor promotes tumor cell survival under adverse conditions. Cancer Res, 2006; 66: 3715-3725.
- Sparber-Sauer M, Stegmaier S, Vokuhl C, Seitz G, von Kalle T, Scheer M, Munter M, Bielack SS, Weclawek-Tompol J, Ladenstein R, Niggli F, Ljungman G, Fuchs J, Hettmer S, Koscielniak E, Klingebiel T: Rhabdomyosarcoma diagnosed in the first year of life: Localized, metastatic, and relapsed disease. Outcome data from five trials and one registry of the Cooperative Weichteilsarkom Studiengruppe (CWS). Pediatr Blood Cancer, 2019; 66 (6): e27652-e27652. : http://dx.doi.org/10.1002/pbc.27652
- Speckmann C, Doerken S, Aiuti A, Albert MH, Al-Herz W, Allende LM, Scarselli A, Avcin T, Perez-Becker R, Cancrini C, Cant A, Di Cesare S, Finocchi A, Fischer A, Gaspar HB, Ghosh S, Gennery A, Gilmour K, Gonzalez-Granado LI, Martinez-Gallo M, Hambleton S, Hauck F, Hoenig M, Moshous D, Neven B, Niehues T, Notarangelo L, Picard C, Rieber N, Schulz A, Schwarz K, Seidel MG, Soler-Palacin P, Stepensky P, Strahm B, Vraetz T, Warnatz K, Winterhalter C, Worth A, Fuchs S, Uhlmann A, Ehl S: A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis. J Allergy Clin Immun, 2017; 139 (4): 1302-1310.e4. : http://dx.doi.org/10.1016/j.jaci.2016.07.040
- Speckmann C, Enders A, Woellner C, Thiel D, Rensing-Ehl A, Schlesier M, Rohr J, Jakob T, Oswald E, Kopp MV, Sanal O, Litzman J, Plebani A, Pietrogrande MC, Franco JL, Espanol T, Grimbacher B, Ehl S: Reduced memory B cells in patients with hyper IgE syndrome. Clin Immunol, 2008; 129 (3): 448-454. : http://dx.doi.org/10.1016/j.clim.2008.08.002
- Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S: X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis. Clin Immunol, 2013; 149 (1): 133-141. : http://dx.doi.org/10.1016/j.clim.2013.07.004
- Speckmann C, Pannicke U, Wiech E, Schwarz K, Fisch P, Friedrich W, Niehues T, Gilmour K, Buiting K, Schlesier M, Eibel H, Rohr J, Superti-Furga A, Gross-Wieltsch U, Ehl S: Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency. Blood, 2008; 112 (10): 4090-4097.
- Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Gohring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW: Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol, 2017; 8: 449-449. : http://dx.doi.org/10.3389/fimmu.2017.00449
- Speckmann C, Sahoo SS, Rizzi M, Hirabayashi S, Karow A, Serwas NK, Hoemberg M, Damatova N, Schindler D, Vannier JB, Boulton SJ, Pannicke U, Gohring G, Thomay K, Verdu-Amoros JJ, Hauch H, Woessmann W, Escherich G, Laack E, Rindle L, Seidl M, Rensing-Ehl A, Lausch E, Jandrasits C, Strahm B, Schwarz K, Ehl SR, Niemeyer C, Boztug K, Wlodarski MW: Clinical and Molecular Heterogeneity of RTEL1 Deficiency. Front Immunol, 2017; 8: 449-449. : http://dx.doi.org/10.3389/fimmu.2017.00449
- Spellerberg B, Martin S, Franken C, Berner R, Lütticken R: Identification of a novel insertion sequence element in Streptococcus agalactiae. Gene, 2000; 241: 51-56.
- Sperl W, Geiger R, Lehnert W, Rgead W: Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Eur. J. Pediatr., 1997; 156: 800-802.
- Spiekerkoetter U,, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W,, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U.: Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis, 2009; 32 (4): 488-497.
- Spiekerkoetter U,, Lindner M, Santer R, Grotzke M, Baumgartner MR, Boehles H, Das A, Haase C, Hennermann JB, Karall D, de Klerk H, Knerr I, Koch HG, Plecko B, Röschinger W,, Schwab KO, Scheible D, Wijburg FA, Zschocke J, Mayatepek E, Wendel U.: Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis, 2009; 32 (4): 498-505.
- Spira EM, Jacobi C, Frankenschmidt A, Pohl M, von Schnakenburg C: Sonographic long-term study: paediatric growth charts for single kidneys. Arch Dis Child, 2009; 94 (9): 693-698. : http://dx.doi.org/10.1136/adc.2008.153601
- Sprossmann F, Pankert P, Sausbier U, Wirth A, Zhou XB, Madlung J, Zhao H, Bucurenciu I, Jakob A, Lamkemeyer T, Neuhuber W, Offermanns S, Shipston MJ, Korth M, Nordheim A, Ruth P, Sausbier M: Inducible knockout mutagenesis reveals compensatory mechanisms elicited by constitutive BK channel deficiency in overactive murine bladder. Febs J, 2009; 276 (6): 1680-1697. : http://dx.doi.org/10.1111/j.1742-4658.2009.06900.x
- Spürgin P, Müller H, Walter M, Schiltz E, Forster J: Allergenic epitopes of bovine alpha1-casein recognized by human IgE and IgG. Allergy, 1996; 51: 306-312.
- Spürgin P, Walter M, Müller H, Forster J: B cell epitope mapping of bovine -S1-Casein. Immunobiology, 1994; 191: 302.
- Spürgin P, Walter M, Schiltz E, Deichmann K, Forster J, Müller H: Allergenicity alpha-casein from cow, sheep, and goat. Allergy, 1997; 52: 293-298.
- Spurr, N. K., Barton, H., Bashir, R., Bryson, G. M., Bushby, K., Cox, S., Gingrich, J.C. Hentati, A., Hildebrandt, F., Kao, F.-T., Kruse: Report of the third international workshop on human chromosome 2 mapping 1994. Cytogenet. Cell Genet., 1994; 67: 215-244.
- Spurr NK, Bashir R, Bushby K, Cox S, Cox A, Hildebrandt F, Hill N, Kao FT, Krols L, Marzella R, Miller N, Nothwang HG, Rocchi M, Sarfarazi M, Stratakis C, Wallgren-Pettersson C, Naylor S: Report of the fourth international workshop on human chromosome 2 mapping. Cytogenet. Cell Genet., 1996; 73: 255-273.
- Spyridis N, Syridou G, Goossens H, Versporten A, Kopsidas J, Kourlaba G, Bielicki J, Drapier N, Zaoutis T, Tsolia M, Sharland M: Variation in paediatric hospital antibiotic guidelines in Europe. Arch Dis Child, 2016; 101 (1): 72-76. : http://dx.doi.org/10.1136/archdischild-2015-308255
- Srivastava A, Henneke P, Visintin A, Morse SC, Martin V, Watkins C, Paton JC, Wessels MR, Golenbock DT, Malley R: The apoptotic response to pneumolysin is Toll-like receptor 4 dependent and protects against pneumococcal disease. Infect Immun, 2005; 73 (10): 6479-6487. : http://dx.doi.org/10.1128/IAI.73.10.6479-6487.2005
- Stachel DK, Leipold A, Kuhlen M, Gravou-Apostolatou C, Hirv K, Bader P, Niemeyer CM, Beck JD, Holter W: Simultaneous control of third-degree graft-versus-host disease and prevention of recurrence of juvenile myelomonocytic leukemia (JMML) with 6-mercaptopurine following fulminant JMML relapse early after KIR-mismatched bone marrow transplantation. J Pediat Hematol Onc, 2005; 27 (12): 672-674.
- Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkotter U, Schwab KO, Potzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemoller B, Muntau AC, Roscher AA, Roschinger W: Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Hum Mutat, 2006; 27 (8): 748-759.
- Stahl F, Härter M, Korinthenberg R: Hoffnung und Belastung:
Eine Befragung von Müttern muskelkranker Kinder zur Rolle der Krankengymnastik Kinder- und Jugendarzt, 2000; 2: 166-173.
- Stahl M, Jakob A, von Brocke A, Nicholson G, Bayer E: Comparison of different setups for one- and two-dimensional capillary Electrophoresis, 2002; 23 (17): 2949-2962. : http://dx.doi.org/10.1002/1522-2683(200209)23:17<2949::AID-ELPS2949>3.0.CO;2-0
- Stark JM, Barmada MM, Winterberg AV, Majumber N, Gibbons WJ Jr, Stark MA, Sartor MA, Medvedovic M, Kolls J, Bein K, Mailaparambil B, Krueger M, Heinzmann A, Leikauf GD, Prows DR: Genomewide association analysis of respiratory syncytial virus infection in mice. J Virol, 2010; 84 (5): 2257-2269. : http://dx.doi.org/10.1128/JVI.00584-09
- Stary J, Locatelli F, Niemeyer CM: Stem cell transplantation for aplastic anemia and myelodysplastic syndrome. Bone Marrow Transpl, 2005; 35 Suppl 1: S13-S16. : http://dx.doi.org/10.1038/sj.bmt.1704836
- Staskewitz A, Kirste G, Bandis M, Tönshoff B, Helmchen U, Zimmerhackl LB: Nierentransplantation im Kindesalter: Erste Erfahrung mit Mycophenolat Mofetil (MMF). 1998; 10: 34-37.
- Staskewitz A, Kirste G, Tonshoff B, Weber LT, Boswald M, Burghard R, Helmchen U, Brandis M, Zimmerhackl LB.: Mycophenolate mofetil in pediatric renal transplantation without induction therapy: results after 12
months of treatment. German Pediatric Renal Transplantation Study Group. Transplantation, 2001; 71 (5): 638-644.
- Staufner C, Blom HJ, Dionisi-Vici C, Freisinger P, Makhseed N, Ballhausen D, Kolker S, Hoffmann GF, Harting I: MRI and (1)H-MRS in adenosine kinase deficiency. Neuroradiology, 2016; 58 (7): 697-703. : http://dx.doi.org/10.1007/s00234-016-1676-z
- Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kolker S, Haas D, Hoffmann GF, Grunert SC, Blom HJ: Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options. J Inherit Metab Dis, 2016; 39 (2): 273-283. : http://dx.doi.org/10.1007/s10545-015-9904-y
- Stavropoulou D, Hentschel R, Radecke J, Kunze M, Niemeyer C, Uhl M, Grohmann J: Preoperative selective embolization with vascular coiling of giant sacrococcygeal teratoma. J Neonatal Perinatal Med, 2019; 12 (3): 345-349. : http://dx.doi.org/10.3233/NPM-180066
- Stavropoulou D, Hentschel R, Rädecke J, Kunze M, Niemeyer C, Uhl M, Grohmann J: Preoperative selective embolization with vascular coiling of giant sacrococcygeal teratoma. J of Neonatal-Perinatal Medicine, 2019; 12 (3): 345-349.
- Stavropoulou D., Hentschel R.: Antenatal Steroid Therapy in Threatened Premature Birth - State of the Art. Z Geburtshilfe Neonatol, 2017; 221: 265-271.
- Stavrou C, Koptides M, Tombazos C, Psara E, Patsias C, Zouvani I, Kyriacou K, Hildebrandt F, Christofides T, Pierides A, Deltas CC: Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int, 2002; 62 (4): 1385-1394.
- Steele CL, Dore M, Ammann S, Loughrey M, Montero A, Burns SO, Morris EC, Gaspar B, Gilmour K, Bibi S, Shendi H, Devlin L, Speckmann C, Edgar DM: X-linked Inhibitor of Apoptosis Complicated by Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) and Granulomatous Hepatitis. J Clin Immunol, 2016; 36 (7): 733-738. : http://dx.doi.org/10.1007/s10875-016-0320-3
- Stehen C., Baumgartner ER., Duran M., Lehnert W., Suormala T., Fingerhut R., Stehn M. Kohlschütter A.: Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency. Eur. J. of Pediatr., 1999; 158: 730-733.
- Steinbach D, Wilhelm B, Kiermaier HR, Creutzig U, Schrappe M, Zimmermann M, Debatin KM, Gruhn B, von Stackelberg A, Jürgens H, Strahm B, Reinhardt D, Möricke A: Long term survival in children with acute leukaemia and complications requiring mechanical ventilation. Arch Dis Child, 2011; 96 (11): 1026-1032.
- Steinberger D, Korinthenberg R, Topka H, Berghäuser M, Wedde R: Dopa-responsive dystonia: Mutation analysis of GCH 1 and analysis of therapeutic doses of L-dopa Neurology, 2000; 1 of 2 (55): 1735-1737.
- STEINBERGER D, WEBER Y, KORINTHENBERG R, DEUSCHL G, BENECKE MD, MARTINIUS J, MÜLLER U: High penetrance and pronounced variation in expressivity of GCH1 Mutations in five families with dopa-responsive dystonia. Annals of Neurology, 1998; 43: 634-639.
- Steinbusch MMF, Caron MMJ, Surtel DAM, Friedrich F, Lausch E, Pruijn GJM, Verhesen W, Schroen BLM, van Rhijn LW, Zabel B, Welting TJM: Expression of RMRP RNA is regulated in chondrocyte hypertrophy and determines chondrogenic differentiation. Sci Rep-uk, 2017; 7 (1): 6440-6440. : http://dx.doi.org/10.1038/s41598-017-06809-5
- Steinemann D, Arning L, Praulich I, Stuhrmann M, Hasle H, Stary J, Schlegelberger B, Niemeyer CM, Flotho C: Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. Haematologica, 2010; 95 (2): 320-323. : http://dx.doi.org/10.3324/haematol.2009.010355
- Steinemann D, Praulich I, Otto N, Gohring G, Niemeyer CM, Schlegelberger B: Mutation analysis of the HAX1 gene in childhood myelodysplastic syndrome. Brit J Haematol, 2009; 145 (4): 533-534. : http://dx.doi.org/10.1111/j.1365-2141.2009.07634.x
- Steinemann D, Tauscher M, Praulich I, Niemeyer CM, Flotho C, Schlegelberger B: Mutations in the let-7 binding site - a mechanism of RAS activation in juvenile myelomonocytic leukemia? Haematologica, 2010; 95 (9): 1616-1616. : http://dx.doi.org/10.3324/haematol.2010.024984
- Steinmann D, Engehausen M, Stiller B, Guttmann J: Electrical impedance tomography for verification of correct endotracheal tube placement in paediatric patients: a feasibility study. Acta Anaesth Scand, 2013; 57 (7): 881-887. : http://dx.doi.org/10.1111/aas.12143
- Stein S, Michaelis U: Die Therapie mit Botulinum Toxin A bei Kindern mit spastischen Bewegungsstörungen - Die Rolle der Physiotherapie Krankengymnastik - Zeitschrift für Physiotherapeuten, 2001; 4: 606-615.
- Stelzer C, Brimmer A, Hermanns P, Zabel B, Dietz UH.: Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo. Dev Dynam, 2007; 236 (5): 1313-1318.
- Stelzner G, Riedel-Heller SG, Sonntag A, Matschinger H, Jakob A, Angermeyer MC: [Determinants of psychotropic drug utilization in homes for the elderly and in nursing homes]. Z Gerontol Geriatr, 2001; 34 (4): 306-312.
- Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen U, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Krüttgen A, Rudnik-Schoenebörn S, Bergmann C, Suter U, Zerres K, Timmermann V, Relvas J, Senderek J: Peripheral Nerve Demyelination Caused by a Mutant Rho GTPase Guanine Nucleotide Exchange Factor, Frabin/FGD4 Am J Hum Genet, 2007; 81: 158-164.
- Stephan V, Schmid V, Frischer T, Sparholt S, Forster J, Wahn V, Kühr J: Mite allergy, clinical atopy, and restriction by HLA class II immune response genes. Pediatr Allergy Immunol, 1996; 7: 28-34.
- Stephan V., Kuehr J., Seibt A., Saueressig H., Zingsem S., Dinh T.D., Moseler M., Wahn V., Deichmann K.A.: Genetic linkage of HLA-DPB locus to specific IgE immune responsiveness. Clinical and Experimental Allergy, 1999; 29: 1049-1054.
- Stephan V., Kuehr J., Seibt A. Saueressig H., Zingsem S., Dinh T.D., Moseler M. Wahn V. Deichmann K: Genetic linkage of HLA-class II locus to mite-specific IgE immune responsiveness. Clin. Allergy, 1999; 29: 1049-1054.
- Stewart JD, Marchan R, Lesjak MS, Lambert J, Hergenroeder R, Ellis JK, Lau CH, Keun HC, Schmitz G, Schiller J, Eibisch M, Hedberg C, Waldmann H, Lausch E, Tanner B, Sehouli J, Sagemueller J, Staude H, Steiner E, Hengstler JG: Choline-releasing glycerophosphodiesterase EDI3 drives tumor cell migration and metastasis. P Natl Acad Sci Usa, 2012; 109 (21): 8155-8160. : http://dx.doi.org/10.1073/pnas.1117654109
- Stieger S, Diem S, Jakob A, Brodbeck U: Enzymatic properties of phosphatidylinositol-glycan-specific phospholipase C from rat liver and phosphatidylinositol-glycan-specific phospholipase D from rat serum. Eur J Biochem, 1991; 197 (1): 67-73.
- Stieglitz E, Mazor T, Olshen AB, Geng H, Gelston LC, Akutagawa J, Lipka DB, Plass C, Flotho C, Chehab FF, Braun BS, Costello JF, Loh ML: Genome-wide DNA methylation is predictive of outcome in juvenile myelomonocytic leukemia. Nat Commun, 2017; 8 (1) (online): 2127-2127. : http://dx.doi.org/10.1038/s41467-017-02178-9
- Stiller B: Management of myocarditis in children: the current situation. Adv Exp Med Biol, 2008; 609: 196-215.
- Stiller B, Adachi I, Fraser CD Jr: Pediatric ventricular assist devices. Pediatr Crit Care Me, 2013; 14 Suppl. 1: S20-S26. : http://dx.doi.org/10.1097/PCC.0b013e318292df5f
- Stiller B, Benk C, Schlensak C: Congenital heart disease: mechanical cardiovascular support in infants and children. Heart, 2011; 97 (7): 596-602. : http://dx.doi.org/10.1136/hrt.2009.175067
- Stiller B, Fleck T: Role of Extracorporeal Membrane Oxygenation in Neonatal and Pediatric End-Stage Heart Patients. Artif Organs, 2016; 40 (1): 12-13. : http://dx.doi.org/10.1111/aor.12627
- Stiller B, Hetzer R, Meyer R, Dittrich S, Pees C, Alexi-Meskishvili V, Lange PE: Primary cardiac tumours: when is surgery necessary? Eur J Cardio-thorac, 2001; 20 (5): 1002-1006.
- Stiller B, Houmes RJ, Ruffer A, Kumpf M, Muller A, Kipfmuller F, Koditz H, Herber Jonat S, Schmoor C, Benk C, Tibboel D, Fleck T: Multicenter Experience With Mechanical Circulatory Support Using a New Diagonal Pump in 233 Children. Artif Organs, 2018; 42 (4): 377-385. : http://dx.doi.org/10.1111/aor.13016
- Stindt J, Kluge S, Droge C, Keitel V, Stross C, Baumann U, Brinkert F, Dhawan A, Engelmann G, Ganschow R, Gerner P, Grabhorn E, Knisely AS, Noli KA, Pukite I, Shepherd RW, Ueno T, Schmitt L, Wiek C, Hanenberg H, Haussinger D, Kubitz R: Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency. Hepatology, 2016; 63 (2): 524-537. : http://dx.doi.org/10.1002/hep.28311
- Stocks J, Henschen M, Hoo A, Costeloe K, Dezateux C: The influence of ethnicity and gender on airway function in preterm infants. Am J Respir Crit Care Med, 1997.
- Stölting T, Omran H, Erlekotte A, Denecke J, Reunert J, Marquardt T: Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Mol Genet Metab, 2009; 98: 305-309.
- Stolze I, Berchner-Pfaffenschmidt U, Freitag P, Wotzlaw C, Rössler J, Frede S, Acker H, Fandrey J: Hypoxia inducible erythropoietin gene expression in human neuroblastoma cells Blood, 2002; 100: 2623-2628.
- Storm, Van´s Gravesande K., Mattes J., Gruntjens T., Kopp M., Seydewitz HH., Moseler M., Kuehr J.: Circardian variation of urinary eosinophil protein X in asthmatic and healthy children. Clin. Exp. Allergy, 1999; 29: 1497-1501.
- Storm K, Leipoldt M, Korinthenberg R, H. Omran: Veränderung der Subtelomerregion bei Patienten mit mentaler Retardierung Neuropädiatrie in Klinik und Praxis, 2009; 3: 64-68.
- Storm K, Omran H: Primary Ciliary Dyskinesia: clinical presentation, diagnosis and genetics Ann Med, 2005; 37: 439-449.
- Storm van´s Gravesande K, Mattes J, Grossklauss E, Zurmuhl A, Moseler M, Kuhr J: Preventive effect of 2 and 10 mg of sodium cromoglyate on exercise-induced bronchoconstriction. Eur J Pediatr, 2000; 159: 759-763.
- Storm Van's Gravesande K, Mattes J, Endlicher A, Alving K, Ihorst G, Kuhr J: Effect of two doses of budesonide on exhaled nitric oxide and urinary EPX excretion in asthmatic children. Pneumologie, 2004; 58 (7): 483-488.
- Storm van's Gravesande, Moseler M, Kühr J: The most common phenotypes of sensitization to Inhalant allergens in the skin prick test. Clinical and Experimental Allergy, 1997; 27: 646-652.
- Storm van's Gravesande K, Karmaus W, Moseler M, Kühr J: Mütterliches Alter und Anzahl der Geschwister: Kombinierte Wirkung familiärer Risikofaktoren auf die allergische Sensibilisierung. Monatsschrift Kinderheilkunde, 1998; 146: 471-475.
- Storm van's Gravesande K, Kopp M, Grüntjens T, Seydewitz HH, Burrow G, Kühr J: Urinary eosinophil protein X in children with acute asthmatic attacks. Eur. Respir. J., 1997; 10 Suppl 25: 276-277.
- Stöver B, Laubenberger J, Hennig J, Niemeyer C, Rückauer K, Brandis M, Langer M: Value of rare-MRI sequences in the diagnosis of lymphangiomatosis in children. Magnetic Resonance Imaging, 1995; 13: 481-488..
- Stöver B, Laubenberger J, Niemeyer C, Stahl F, Brandis M, Langer M: Haemangiomatosis in children: Value of MRI during therapy. Pediatr. Radiol., 1995; 25: 123-126..
- Strahm B, Durbin AD, Sexsmith E, Malkin D: The CXCR4-SDF1α axis is a critical mediator of rhabdomyosarcoma metastatic signaling induced by bone marrow stroma. Clin Exp Metastas, 2008; 25: 1-10. : http://dx.doi.org/10.1007/s10585-007-9094-6
- Strahm B, Locatelli F, Bader P, Ehlert K, Kremens B, Zintl F, Fuhrer M, Stachel D, Sykora KW, Sedlacek P, Baumann I, Niemeyer CM: Reduced intensity conditioning in unrelated donor transplantation for refractory cytopenia in childhood. Bone Marrow Transpl, 2007; 40 (4): 329-333. : http://dx.doi.org/10.1038/sj.bmt.1705730
- Strahm B, Nollke P, Zecca M, Korthof ET, Bierings M, Furlan I, Sedlacek P, Chybicka A, Schmugge M, Bordon V, Peters C, O'Marcaigh A, de Heredia CD, Bergstraesser E, Moerloose BD, van den Heuvel-Eibrink MM, Stary J, Trebo M, Wojcik D, Niemeyer CM, Locatelli F: Hematopoietic stem cell transplantation for advanced myelodysplastic syndrome in children: results of the EWOG-MDS 98 study. Leukemia, 2011; 25 (3): 455-462. : http://dx.doi.org/10.1038/leu.2010.297
- Strahm B, Rittweiler K, Duffner U, Brandau O, Orlowska-Volk M, Karajannis MA, Zurstadt U, Tiemann Ch, Reiter A, Brandis M, Reindl A, Niemeyer CM: Reccurrent B-cell Non-Hodgkin´s Lymphoma in two brothers with x-linkked lymphoproliferative disease without evidence for Epstein-Barr Virus infection. Brit J Haematol, 2000; 108: 377-382.
- Strahm B, Rittweiler K, Duffner U, Brandau O, Orlowska-Volk M, Karajannis MA, Stadt Uz, Tiemann M, Reiter A, Brandis M, Meindl A, Niemeyer CM: Recurrent B-cell non-Hodgkin's lymphoma in two brothers with X-linked lymphoproliferative disease without evidence for Epstein-Barr virus infection. Brit J Haematol, 2000; 108 (2): 377-382.
- Strauch E, Moske O, Thoma S, Storm Van's Gravesande K, Ihorst G, Brandis M, Kuehr J: A randomized controlled trial on the effect of montelukast on sputum eosinophil cationic protein in children with corticosteroid-dependent asthma. Pediatr Res, 2003; 53 (2): 198-203.
- Strauch E, Neupert T, Ihorst G, Van's Gravesande KS, Bohnet W, Hoeldke B, Karmaus W, Kuehr J: Bronchial hyperresponsiveness to 4.5% hypertonic saline indicates a past history of asthma-like symptoms in children. Pediatr Pulm, 2001; 31: 44-50.
- Strauch K, Fimmers R, Kurz T, Deichmann K.A, Wienker T, Baur M: Parametric and nonparametric linkage analysis with imprinting and two-locus trait models: application to mite sensitization. Am J Hum Genet, 2000; 66 (6): 1945-1957.
- Strauss A, Furlan I, Steinmann S, Buchholz B, Kremens B, Rossig C, Corbacioglu S, Raiagopal R, Lahr G, Yoshimi A, Strahm B, Niemeyer CM, Schulz A: Unmistakable morphology? Infantile malignant osteopetrosis resembling juvenile myelomonocytic leukemia in infants. J Pediatr-us, 2015; 167: 486-488. : http://dx.doi.org/10.1016/j.jpeds.2015.04.064
- STRAUSS E, HILLER J, JAKOB A: [Determination and effects of thiouracil derivatives]. Arzneimittel-forsch, 1952; 2 (4): 177-180.
- STRAUSS E, JAKOB A, HILLER J: [Radioiodine in investigation of thyroid function]. Med Klin, 1951; 46 (42): 1102-1105.
- Straus SE, Jaffe ES, Puck JM, Dale JK, Elkon KB, Rosen-Wolff A, Peters AM, Sneller MC, Hallahan CW, Wang J, Fischer RE, Jackson CM, Lin AY, Baumler C, Siegert E, Marx A, Vaishnaw AK, Grodzicky T, Fleisher TA, Lenardo MJ.: The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood, 2001; 98 (1): 194-200.
- Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstoen KB, Bjoras M, Wlodarski MW, Kruger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Ronnestad A, Osnes LT, Egeland T, Rodningen OK, Beck CR, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC: PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet, 2014; 95 (1): 96-107. : http://dx.doi.org/10.1016/j.ajhg.2014.05.007
- Stray-Pedersen A, Backe PH, Sorte HS, Morkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstoen KB, Bjorás M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Ronnestad A, Osnes LT, Egeland T, Rodningen OK, Beck CR, Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC: PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet, 2014; 95 (1): 96-107. : http://dx.doi.org/10.1016/j.ajhg.2014.05.007
- Streckert H.-J., Humbert B., Philippou S., Forster, J.: Beitrag der humoralen Immunantwort zur Pathogenese der Respiratory-Syncytial-Virus-(RSV)-Infektion. Immun Infekt, 1993; 21: 75-77.
- Streif W, Knöfler R, Eberl W, Andres O, Bakchoul T, Bergmann F, Beutel K, Dittmer R, Gehrisch S, Gottstein S, Halimeh S, Haselböck J, Hassenpflug WA, Heine S, Holzhauer S, King S, Kirchmaier CM, Krause M, Kreuz W, Lösche W, Mahnel R, Maurer M, Nimtz-Talaska A, Oilivieri M, Rott H, Schmbeck ChM, Schedel A, Schilling FH, Schmugge M, Schneppenheim R, Scholz U, Scholz T, Schulze H, Siegemund A, Strauß G, Sykora KW, Wermes C, Wiegering V, Wieland I, Zieger B, Zotz RB: Therapy of inherited diseases of platelet function. Interdisciplinary S2K guideline of the Permanent Paediatric Committee of the Society of Thombosis and Haemostasis Research (GTH e.V.). Hamostaseologie, 2014; 34 (4): 269-275. : http://dx.doi.org/10.5482/HAMO-2014040001
- Strobel P, Hartmann M, Jakob A, Mikesch K, Brink I, Dirnhofer S, Marx A: Thymic carcinoma with overexpression of mutated KIT and the response to imatinib. New Engl J Med, 2004; 350 (25): 2625-2626. : http://dx.doi.org/10.1056/NEJM200406173502523
- Strumia M, Anastasopoulos C, Mader I: Comparative characterisation of susceptibility weighted MRI for brain white matter lesions in MS. Multimodal Brain Image Analysis, 2012; 7509: 157-166.
- Sturm D, Orr BA, Toprak UH, Hovestadt V, Jones DT, Capper D, Sill M, Buchhalter I, Northcott PA, Leis I, Ryzhova M, Koelsche C, Pfaff E, Allen SJ, Balasubramanian G, Worst BC, Pajtler KW, Brabetz S, Johann PD, Sahm F, Reimand J, Mackay A, Carvalho DM, Remke M, Phillips JJ, Perry A, Cowdrey C, Drissi R, Fouladi M, Giangaspero F, Lastowska M, Grajkowska W, Scheurlen W, Pietsch T, Hagel C, Gojo J, Lotsch D, Berger W, Slavc I, Haberler C, Jouvet A, Holm S, Hofer S, Prinz M, Keohane C, Fried I, Mawrin C, Scheie D, Mobley BC, Schniederjan MJ, Santi M, Buccoliero AM, Dahiya S, Kramm CM, von Bueren AO, von Hoff K, Rutkowski S, Herold-Mende C, Fruhwald MC, Milde T, Hasselblatt M, Wesseling P, Rossler J, Schuller U, Ebinger M, Schittenhelm J, Frank S, Grobholz R, Vajtai I, Hans V, Schneppenheim R, Zitterbart K, Collins VP, Aronica E, Varlet P, Puget S, Dufour C, Grill J, Figarella-Branger D, Wolter M, Schuhmann MU, Shalaby T, Grotzer M, van Meter T, Monoranu CM, Felsberg J, Reifenberger G, Snuderl M, Forrester LA, Koster J, Versteeg R, Volckmann R, van Sluis P, Wolf S, Mikkelsen T, Gajjar A, Aldape K, Moore AS, Taylor MD, Jones C, Jabado N, Karajannis MA, Eils R, Schlesner M, Lichter P, von Deimling A, Pfister SM, Ellison DW, Korshunov A, Kool M: New Brain Tumor Entities Emerge from Molecular Classification of CNS-PNETs. Cell, 2016; 164 (5): 1060-1072. : http://dx.doi.org/10.1016/j.cell.2016.01.015
- Sturm M, Herebian D, Mueller M, Laryea MD, Spiekerkoetter U: Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. Plos One, 2012; 7 (9): e45110-e45110. : http://dx.doi.org/10.1371/journal.pone.0045110
- Suero Molina EJ, Niederstedt T, Ruland V, Kayser G, Stummer W, Ewelt C, Rössler J: Cerebrospinal fluid leakage in Gorham-Stout disease due to dura mater involvement after progression of an osteolytic lesion in the thoracic spine. J Neurosurg-spine, 2014; 21 (6): 956-960. (download: http://dx.doi.org/10.3171/2014.8.SPINE131064)
- Suormala T, Duran B, Burtscher A, Fuchshuber A, Tratzmüller R, Lenze MJ, Raab K, Baur B, Wick H, Baumgartner R: Five Patients with a Biotin-Responsive Defect in Holocarboxylase Formation: Evaluation of Responsiveness to Biotin Therapy In Vivo and Comparative Biochemical Studies in Vitro. Pediatr. Res., 1997; 41: 666-673.
- Superti-Furga A, Unger S: Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A, 2007; 143 (1): 1-18.
- Surges R,, Moskau S, Viebahn B, Schoene-Bake JC, Schwab JO, Elger CE: Prolonged atrial fibrillation following generalized tonic-clonic seizures Seizure-eur J Epilep, 2012; 21 (8): 643-645.
- Sutor AH: Preface, Pediatric Hemostasis and Thrombosis, Part II. Sem Thromb Hemostas, 1995; 21.
- Sutor AH: Thrombozytenzählung bei Thrombozytopenie. Pädiat. prax., 1995; 50: 43-52.
- Sutor AH: Vitamin-K-Deficiency-Bleeding in Infancy. Sem Thromb Hemostas, 1995; 21: 317-329.
- Sutor AH: Vitamin K deficiency bleeding in infants. Proceedings of the 29th International Congress on Pathophysiology of Pregnancy, Hakone, Japan, October 14-16
1997.
- Sutor AH: Primary hemostasis in children. Preface Sem. Thromb. Hemostas., 1998; 24: 503-504.
- Sutor AH: Desmopressin in bleeding disorders of childhood Sem. Thromb. Hemostas., 1998; 24: 555-566.
- Sutor AH: The bleeding time in pediatrics Sem. Thromb. Hemostas., 1998; 24: 577-582.
- Sutor AH: Acute immune thrombocytopenia in childhood: are we treating the platelet count? Sem. Thromb. Hemostas., 1998; 24: 545-548.
- Sutor AH: Neue Aspekte der Vitamin K Prophylaxe. Ed Roche, 2001; 0: 0.
- Sutor AH: New aspects of vitamin K prophylaxis. Semin Thromb Hemost, 2003; 29 (4): 373-376.
- Sutor AH, Dagres N, Niederhoff H: Late form of Vitamin K deficiency bleeding in Germany. Klin Pädiatr, 1995; 207: 89-97.
- Sutor AH, Grohmann A, Kaufmehl K, Wuendisch T: Problems with platelet counting in thrombocytopenia. A rapid manual method to measure low platelet counts. Semin Thromb Hemost, 2001; 27: 237-243.
- Sutor AH, Harms A, Kaufmehl K: Acute immune thrombocytopenia (ITP) in childhood: retrospective and prospective survey in Germany. Semin Thromb Hemost, 2001; 27: 253-267.
- Sutor AH, Thomas KB: Ko-Inzidenz von Hämophilie und Morbus Willebrand-Jürgens. Pädiat. prax., 1994; 48: 35-40.
- Sutor AH, Thomas KB, Prufer FH, Grohmann A, Brandis M, Zimmerhackl LB.: Function of von Willebrand factor in children with diarrhea-associated hemolytic-uremic syndrome (D+HUS) Semin Thromb Hemost, 2001; 27 (3): 287-292.
- Sutor AH, v Kries R, Cornelissen EAM, Mc Ninch AW, Andrew M: Vitamin K deficiency bleeding (VKDB) in infancy. On behalf of the ISTH Pediatric/Perinatal Subcommittee Thromb. Hemostas., 1998; 81: 456-461.
- SUTOR A-H, MALL V, THOMAS K-B: Bleeding and thrombosis in children with acute lymphoblastic leukaemia, treated according to the ALL-BFM-90 protocol Ferdinand Enke Verlag Stuttgart, 1999; 211: 201-204.
- Sutor AH., Kries R., Cornelissen EAM., Mc Ninch AW., Andrew M.: Vitamin K deficiency bleeding (VKDB)in infancy. On behalf of the ISTH Pediatric/Perinatal Subcommittee. Thromb. Haemostas., 1999; 81: 456-461.
- Sutor AH., Mall V., Thomas KB.: Bleeding and thrombosis in children with acute lymphoblastic leukaemia, treated according to the ALL-BFM-protocol. Klin. Pädiatr., 1999; 211: 201-204.
- Svobodova T, Mejstrikova E, Salzer U, Sukova M, Hubacek P, Matej R, Vasakova M, Hornofova L, Dvorakova M, Fronkova E, Votava F, Freiberger T, Pohunek P, Stary J, Janda A: Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. Bmc Pulm Med, 2015; 15 (online): 8-8. : http://dx.doi.org/10.1186/s12890-015-0006-2
- Swanson MA, Garcia SM, Spector E, Kronquist K, Creadon-Swindell G, Walter M, Christensen E, Van Hove JLK, Sass JO: d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence. Mol Genet Metab, 2017; 121 (2): 80-82. : http://dx.doi.org/10.1016/j.ymgme.2017.04.009
- Sweeny EA, Singh AB, Chakravarti R, Martinez-Guzman O, Saini A, Haque MM, Garee G, Dans PD, Hannibal L, Reddi AR, Stuehr DJ: Glyceraldehyde-3-phosphate dehydrogenase is a chaperone that allocates labile heme in cells. J Biol Chem, 2018; 293 (37): 14557-14568. : http://dx.doi.org/10.1074/jbc.RA118.004169
- Syrjänen L, Tolvanen M, Hilvo M, Olatubosum A, Innocenti A, Scozzafava A, Leppeniemi J, Niederhauser B, Hytönen VP, Gorr TA, Parkkila S, Supuran CT: Characterization of the first beta-class carbonic anhydrase from an arthropod (Drosophilo melanogaster) and phylogenetic analysis of beta-class carbonic anhydrases in invertebrates. BMC Biochemistry, 2010; 11: 28.
- Tabori U, Revah G, Nathan PC, Strahm B, Rachlis A, Shago M, Grant R, Doyle J, Malkin D: Toxicity and outcome of children with treatment related acute myeloid leukemia. Pediatr Blood Cancer, 2008; 50: 17-23. : http://dx.doi.org/10.1002/pbc.21157
- Taborosi B, Todt-Pingel I, Kayser G, Dittrich S: A Rare Case of Aortic Coarctation and Ventricular Septal Defect Combined with Alveolar Capillary Dysplasia. Pediatr Cardiol, 2007; 28 (4): 319-323.
- Tacke M, Borggraefe I, Gerstl L, Heinen F, Vill K, Bonfert M, Bast T, Neubauer BA, Baumeister F, Baethmann M, Bentele K, Blank C, Blank HM, Bode H, Bosch F, Brandl U, Brockmann K, Dahlem P, Ernst JP, Feldmann E, Fiedler A, Gerigk M, Hess S, Hikel C, Hoffmann HG, Kieslich M, Klepper J, Kluger G, Koch H, Koch W, Korinthenberg R, Krois I, Kuhne H, Kurlemann G, Mandl M, Mause U, Navratil P, Opp J, Penzien J, Prietsch V, Quattlander A, Rating D, Schara U, Shamdeen MG, Sprinz A, Wendker-Magrabi H, Stephani U, Muhle H, Strassburg HM, Topke B, Trollmann R, Tuschen-Hofstatter E, Waltz S, Weber G, Wien FU, Wolff M, Polster T, Freitag H, Sonmez O, Reinhardt K, Traus M, Hoovey Z: Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. Seizure-eur J Epilep, 2018; 56: 115-120. : http://dx.doi.org/10.1016/j.seizure.2018.01.015
- Tacke M, Gerstl L, Heinen F, Heukaeufer I, Bonfert M, Bast T, Cornell S, Neubauer BA, Borggraefe I: Effect of anticonvulsive treatment on neuropsychological performance in children with BECTS. Eur J Paediatr Neuro, 2016; 20 (6): 874-879. : http://dx.doi.org/10.1016/j.ejpn.2016.07.015
- Tacke M, Rupp N, Gerstl L, Heinen F, Vill K, Bonfert M, Neubauer BA, Bast T, Borggraefe I: Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology. Acta Neurol Scand, 2018; 138 (6): 475-481. : http://dx.doi.org/10.1111/ane.13015
- Tacke U, Karger D, Spreer J, Berlis A, Nikkhah G, Korinthenberg R: Incidence of vasculopathy in children with hypothalamic/chiasmatic gliomas treated with brachytherapy Child Nerv Syst, 2011; 27 (6): 961-966.
- Tacke U, Korinthenberg R: Aicardi-Goutiéres-Syndrom Monatsschr Kinderh, 2009; 157: 473-478.
- Tacke U, Olbrich H, Sass J. O., Fekete A, Horvath J, Ziyeh S, Kleijer W.J., Rolland M.-O., Fisher S, Payne S, Vargiami E, Zafeiriou D. I., Omran H: Possible Genotype-Phenotype Correlations in Children with Mild Clinical Course of Canavan Disease Neuropediatrics, 2005; 36: 252-255.
- Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou DI, Omran H: Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease Neuropediatrics, 2005; 36 (4): 252-255.
- Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S, Kleijer WJ, Rolland MO, Fisher S, Payne S, Vargiami E, Zafeiriou D, Omran H: Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease Neuropediatrics, 2006; 36 (4): 252-255.
- Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hubschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE: Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). Clin Immunol, 2016; 175: 51-55. : http://dx.doi.org/10.1016/j.clim.2016.11.016
- Tagliaferri L, Kunz JB, Happich M, Esposito S, Bruckner T, Hubschmann D, Okun JG, Hoffmann GF, Schulz A, Kappe J, Speckmann C, Muckenthaler MU, Kulozik AE: Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC). Clin Immunol, 2017; 175: 51-55. : http://dx.doi.org/10.1016/j.clim.2016.11.016
- Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Genevieve D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E: Genetic analysis of adults heterozygous for ALPL mutations. J Bone Miner Metab, 2018; 36 (6): 723-733. : http://dx.doi.org/10.1007/s00774-017-0888-6
- Takeuchi F, Komaki H, Yamagata Z, Maruo K, Rodger S, Kirschner J, Kubota T, Kimura E, Takeda S, Gramsch K, Vry J, Bushby K, Lochmuller H, Wada K, Nakamura H: A comparative study of care practices for young boys with Duchenne muscular dystrophy between Japan and European countries: Implications of early diagnosis. Neuromuscular Disord, 2017; 27 (10): 894-904. : http://dx.doi.org/10.1016/j.nmd.2017.06.557
- Tan SY, Rosenthal J, Zhao XQ, Francis RJ, Chatterjee B, Sabol SL,, Linask KL,, Bracero L,, Connelly PS,, Daniels MP,, Yu Q,, Omran H,, Leatherbury L,, Lo CW., Free in PMC, H: Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia J Clin Invest, 2007; 117 (12): 3742-3752.
- Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafe L, Francis DI, Savarirayan R: Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location. Am J Med Genet A, 2005; 135 (3): 324-327.
- Tanyü MO, Vinee P, Wakhloo AK, Van Velthoven V, Korinthenberg R: A rare (arteriolo-)capillomedullary venous anomaly of the cerebellum Neuroradiology, 1996; 38: 91-95.
- Tartaglia M, Niemeyer CM, Shannon KM, Loh ML: SHP-2 and myeloid malignancies. Curr Opin Hematol, 2004; 11 (1): 44-50.
- Taschner CA, Krauss S, Kirschner J, Sircar R, Hader C, Prinz M: A ring-enhancing brain lesion in an adolescent Klin Neuroradiol, 2009; 19 (3): 238-241.
- Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindric S, Nothe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H: Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. Plos Genet, 2018; 14 (8) (online): e1007602-e1007602. : http://dx.doi.org/10.1371/journal.pgen.1007602
- Taylor M, Roessler J, Geoerger B, Vassal G, Farace F: New anti-angiogenic strategies in pediatric solid malignancies: agents and biomarkers of a near future. Expert Opin Inv Drug, 2010; 19 (7): 859-874.
- Taylor M, Rössler J, Geoerger B, Laplanche A, Hartmann O, Vassal G, Farace F: High levels of circulating VEGFR2+ bone marrow-derived progenitor cells correlate with metastatic disese in patients with pediatric solid malignancies. Clin Cancer Res, 2009; 15 (14): 4561-4571.
- Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF: Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. Jama-j Am Med Assoc, 2014; 312 (1): 68-77. : http://dx.doi.org/10.1001/jama.2014.7184
- Teis D, Taub N, Kurzbauer R, Hilber D, de Araujo ME, Erlacher M, Offterdinger M, Villunger A, Geley S, Bohn G, Klein C, Hess MW, Huber LA: p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis. J Cell Biol, 2006; 175 (6): 861-868.
- Tenbrock K, Müller-Berghaus J, Fuchshuber A, Michalk D, Querfeld U.: Levamisole treatment in steroid-sensitive and steroid-resistant nephrotic syndrome. Pediatr. Nephrol., 1998; 12: 459-462.
- Teot LA, Schneider M, Thorner AR, Tian J, Chi YY, Ducar M, Lin L, Wlodarski M, Grier HE, Fletcher CDM, van Hummelen P, Skapek SX, Hawkins DS, Wagers AJ, Rodriguez-Galindo C, Hettmer S: Clinical and mutational spectrum of highly differentiated, paired box 3:forkhead box protein o1 fusion-negative rhabdomyosarcoma: A report from the Children's Oncology Group. Cancer Cytopathol, 2018; 124 (9): 1973-1981. : http://dx.doi.org/10.1002/cncr.31286
- Teruya J, Massicotte MP, Zieger B: Editorial: Hemostasis in ECMO and VAD. Front Med (Lausanne), 2019; 6: 143-143. : http://dx.doi.org/10.3389/fmed.2019.00143
- Tesi B, Rascon J, Chiang SCC, Burnyte B, Lofstedt A, Fasth A, Heizmann M, Juozapaite S, Kiudeliene R, Kvedaraite E, Miseviciene V, Muleviciene A, Muller ML, Nordenskjold M, Matuzeviciene R, Samaitiene R, Speckmann C, Stankeviciene S, Zekas V, Voss M, Ehl S, Vaiciene-Magistris N, Henter JI, Meeths M, Bryceson YT: A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation. J Allergy Clin Immun, 2018; 142 (1): 317-321.e8. : http://dx.doi.org/10.1016/j.jaci.2018.02.031
- Testi AM, Attarbaschi A, Valsecchi MG, Moricke A, Cario G, Niggli F, Silvestri D, Bader P, Kuhlen M, Parasole R, Putti MC, Lang P, Flotho C, Mann G, Rizzari C, Barisone E, Locatelli F, Linderkamp C, Lauten M, Suttorp M, Zimmermann M, Basso G, Biondi A, Conter V, Schrappe M: Outcome of adolescent patients with acute lymphoblastic leukaemia aged 10-14 years as compared with those aged 15-17 years: Long-term results of 1094 patients of the AIEOP-BFM ALL 2000 study. Eur J Cancer, 2019; 122: 61-71. : http://dx.doi.org/10.1016/j.ejca.2019.09.004
- Theilacker C*, Diederich AK*, Otto A, Sava IG, Wobser D, Bao Y, Hese K, Broszat M, Henneke P, Becher D, Huebner J: Enterococcus faecalis Glycolipids Modulate Lipoprotein-Content of the Bacterial Cell Membrane and Host Immune Response. Plos One, 2015; 10 (7) (online): e0132949-e0132949. : http://dx.doi.org/10.1371/journal.pone.0132949
- Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, Mayatepek E, Spiekerkoetter U: Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis, 2012; 35 (2): 263-268. : http://dx.doi.org/10.1007/s10545-011-9394-5
- Thimm E, Schmidt LE, Heldt K, Spiekerkoetter U: Health-related quality of life in children and adolescents with phenylketonuria: unimpaired HRQoL in patients but feared school failure in parents. J Inherit Metab Dis, 2013; 36 (5): 767-772. : http://dx.doi.org/10.1007/s10545-012-9566-y
- Thol F, Kade S, Schlarmann C, Loffeld P, Morgan M, Krauter J, Wlodarski MW, Kolking B, Wichmann M, Gorlich K, Gohring G, Bug G, Ottmann O, Niemeyer CM, Hofmann WK, Schlegelberger B, Ganser A, Heuser M: Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood, 2012; 119 (15): 3578-3584. : http://dx.doi.org/10.1182/blood-2011-12-399337
- Thomas KB, Sutor AH, Altinkaya N, Grohmann A, Zehenter A, Leititis JU: von Willebrand Factor-Collagen Binding Activity is increased in newborns and infants. Acta Paediatr., 1995; 84: 697-699.
- Thomas KB, Sutor AH, Zieger B, Jessat U, Grohmann A, Wendisch J, Budde U, von Kries R, Hasler K, Tune EP, Choong SC: Ein einfacher Test für die Bestimmung des von-Willebrand-Faktors: die Kollagenbindungsaktivität. Hämostaseologie, 1994; 14: 133-139.
- Thome U., Kössel H., Lipowsky G., Porz F., Fürste H-O., Genzel-Boroviczeny O., Tröger J. Oppermann H-C., Högel J., Pohlandt F.: Randomized comparison of high-frequency ventilation with high-rate intermittent positive pressure ventilation in preterm infants with respiratory failure. The Journal of Pediatrics, 1999; July 135: 39-36.
- Thome UH, Dreyhaupt J, Genzel-Boroviczeny O, Bohnhorst B, Schmid M, Fuchs H, Rohde O, Avenarius S, Topf HG, Zimmermann A, Faas D, Timme K, Kleinlein B, Buxmann H, Schenk W, Segerer H, Teig N, Ackermann B, Hentschel R, Heckmann M, Schlösser R, Peters J, Rossi R, Rascher W, Böttger R, Seidenberg J, Hansen G, Bode H, Zernickel M, Muche R, Hummler HD, PHELBI Study Group: Influence of PCO2 Control on Clinical and Neurodevelopmental Outcomes of Extremely Low Birth Weight Infants. Neonatology, 2018; 113: 221-230.
- Thome UH, Genzel-Boroviczeny O, Bohnhorst B, Schmid M, Fuchs H, Rohde O, Avenarius S, Topf HG, Zimmermann A, Faas D, Timme K, Kleinlein B, Buxmann H, Schenk W, Segerer H, Teig N, Gebauer C, Hentschel R, Heckmann M, Schlosser R, Peters J, Rossi R, Rascher W, Bottger R, Seidenberg J, Hansen G, Zernickel M, Alzen G, Dreyhaupt J, Muche R, Hummler HD: Permissive hypercapnia in extremely low birthweight infants (PHELBI): a randomised controlled multicentre trial. Lancet Resp Med, 2015; 3 (7): 534-543. : http://dx.doi.org/10.1016/S2213-2600(15)00204-0
- Thome UH, Genzel-Boroviczeny O, Bohnhorst B, Schmid M, Fuchs H, Rohde O, Avenarius S, Topf HG, Zimmermann A, Faas D, Timme K, Kleinlein B, Buxmann H, Schenk W, Segerer H, Teig N, Bläser A, Hentschel R, Heckmann M, Schlösser R, Peters J, Rossi R, Rascher W, Böttger R, Seidenberg J, Hansen G, Zernickel M, Bode H, Dreyhaupt J, Muche R, Hummler HD: Neurodevelopmental outcomes of extremely low birthweight infants randomised to different pCO2 targets: the PHELBI follow-up study.
Arch Dis Child-fetal, 2017; 102: 376-382. : http://10.1136/archdischild-2016-311581
- Thompson MD, van's Gravesande KS, Galczenski H, Siminovitch KA, Zamel N, Slutsky A, Drazen JM, George SR, Burnham WM, Evans JF, O'Dowd BF: A cysteinyl leukotriene 2 receptor variant is associated with atopy in the population of Tristan da Cunha. Pharmacogenetics, 2003; 13: 641-649.
- Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmuller H: A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era. Orphanet J Rare Dis, 2018; 13 (1): 211. : http://dx.doi.org/10.1186/s13023-018-0955-7
- Tibussek D, Klepper J, Korinthenberg R, Kurlemann G, Rating D, Wohlrab G, Wolff M, Schmitt B: Treatment of Infantile Spasms: Report of the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society for Neuropediatrics. Neuropediatrics, 2016; 47 (3): 139-150. : http://dx.doi.org/10.1055/s-0036-1572411
- Tiefensee F, Becker-Willinger C, Heppe G, Herbeck-Engel P, Jakob A: Nanocomposite cerium oxide polymer matching layers with adjustable acoustic impedance between 4 MRayl and 7 MRayl. Ultrasonics, 2010; 50 (3): 363-366. : http://dx.doi.org/10.1016/j.ultras.2009.08.012
- Tits J, Jakob A, Wieland E, Spieler P: Diffusion of tritiated water and 22Na+ through non-degraded hardened cement pastes. J Contam Hydrol, 2003; 61 (1-4): 45-62. : http://dx.doi.org/10.1016/S0169-7722(02)00112-2
- Toepfner N,, Henneke P,, Berner R,, Hufnagel M: Impact of technical training on rapid antigen detection tests (RADT) in group A streptococcal tonsillopharyngitis. Eur J Clin Microbiol, 2012. : http://https://www.ncbi.nlm.nih.gov/pubmed/23207649 (in Druck)
- Toepfner N,, Henneke P, Berner R, Hufnagel M: Impact of technical training on rapid antigen detection tests (RADT) in group A streptococcal tonsillopharyngitis Eur J Clin Microbiol, 2013; 32: 609-611.
- Tometten I, Felgentreff K, Honig M, Hauck F, Albert MH, Niehues T, Perez R, Ghosh S, Picard C, Stary J, Formankova R, Worth A, Soler-Palacin P, Garcia-Prat M, Allende LM, Gonzalez-Granado LI, Stepensky P, Di Cesare S, Scarselli A, Cancrini C, Speckmann C, Gilmour K, Notarangelo L, Ehl S, Rohr JC: Increased proportions of gammadelta T lymphocytes in atypical SCID associate with disease manifestations. Clin Immunol, 2019; 201: 30-34. : http://dx.doi.org/10.1016/j.clim.2018.11.006
- Toncheva AA, Potaczek DP, Schedel M, Gersting SW, Michel S, Krajnov N, Gaertner VD, Klingbeil JM, Illig T, Franke A, Winkler C, Hohlfeld JM, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Genuneit J, Muntau AC, Kabesch M: Childhood asthma is associated with mutations and gene expression differences of ORMDL genes that can interact. Allergy, 2015; 70 (10): 1288-1299. : http://dx.doi.org/10.1111/all.12652
- Toncheva AA, Suttner K, Michel S, Klopp N, Illig T, Balschun T, Vogelberg C, von Berg A, Bufe A, Heinzmann A, Laub O, Rietschel E, Simma B, Frischer T, Genuneit J, von Mutius E, Kabesch M: Genetic variants in Protocadherin-1, bronchial hyper-responsiveness, and asthma subphenotypes in German children. Pediat Allerg Imm-uk, 2012; 23 (7): 636-641. : http://dx.doi.org/10.1111/j.1399-3038.2012.01334.x
- Torgerson DG,, Ampleford EJ, Chiu GY, Gauderman WJ, Gignoux CR, Graves PE, Himes BE, Levin AM, Mathias RA, Hancock DB, Baurley JW, Eng C, Stern DA, Celedón JC, Rafaels N, Capurso D, Conti DV, Roth LA, Soto-Quiros M, Togias A, Li X, Myers RA, Romieu I, Van Den Berg DJ, Hu D, Hansel NN, Hernandez RD, Israel E, Salam MT, Galanter J, Avila PC, Avila L, Rodriquez-Santana JR, Chapela R, Rodriguez-Cintron W, Diette GB, Adkinson NF, Abel RA, Ross KD, Shi M, Faruque MU, Dunston GM, Watson HR, Mantese VJ, Ezurum SC, Liang L, Ruczinski I, Ford JG, Huntsman S, Chung KF, Vora H, Li X, Calhoun WJ, Castro M, Sienra-Monge JJ, del Rio-Navarro B, Deichmann KA, Heinzmann A, Wenzel SE, Busse WW, Gern JE, Lemanske RF Jr, Beaty TH, Bleecker ER, Raby BA, Meyers DA, London SJ; Mexico City Childhood Asthma Study (MCAAS), Gilliland FD; Children's Health Study (CHS), HARBORS study, Burchard EG; Genetics of Asthma in Latino Americans (GALA) Study, Study of Genes-Environment, Admixture in Latino Americans (GALA2) and Study of African Americans, Asthma, Genes & Environments (SAGE), Martinez FD; Childhood Asthma Research and Education (CARE) Network, Weiss ST; Childhood Asthma Management Program (CAMP), Williams LK; Study of Asthma Phenotypes and Pharmacogenomic Interactions by Race-Ethnicity (SAPPHIRE), Barnes KC; Genetic Research on Asthma in African Diaspora (GRAAD) Study, Ober C, Nicolae DL.: Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations. Nat Genet, 2011; 43 (9): 887-892. : http://doi: 10.1038/ng.888
- Tremblay AM, Missiaglia E, Galli GG, Hettmer S, Urcia R, Carrara M, Judson RN, Thway K, Nadal G, Selfe JL, Murray G, Calogero RA, De Bari C, Zammit PS, Delorenzi M, Wagers AJ, Shipley J, Wackerhage H, Camargo FD: The Hippo transducer YAP1 transforms activated satellite cells and is a potent effector of embryonal rhabdomyosarcoma formation. Cancer Cell, 2014; 26 (2): 273-287. : http://dx.doi.org/10.1016/j.ccr.2014.05.029
- Trost TM, Lausch EU, Fees SA, Schmitt S, Enklaar T, Reutzel D, Brixel LR, Schmidtke P, Maringer M, Schiffer IB, Heimerdinger CK, Hengstler JG, Fritz G, Bockamp EO, Prawitt D, Zabel BU, Spangenberg C: Premature senescence is a primary fail-safe mechanism of ERBB2-driven tumorigenesis in breast carcinoma cells. Cancer Res, 2005; 65 (3): 840-849.
- Tsitoura S, Nestoridou K, Botis P, Karmaus W, Botezan C, Bojarskas J, Arshad H, Kuehr J, Forster J.: Randomized trial to prevent sensitization to mite allergens in toddlers and preschoolers by allergen reduction and education: one year results. Arch Pediat Adol Med, 2002; 156: 1021-1027.
- Tucci S, Behringer S, Spiekerkoetter U: De novo fatty acid biosynthesis and elongation in very long-chain acyl-CoA dehydrogenase-deficient mice supplemented with odd or even medium-chain fatty acids. Febs J, 2015; 282 (21): 4242-4253. : http://dx.doi.org/10.1111/febs.13418
- Tucci S, Floegel U, Beermann F, Behringer S, Spiekerkoetter U: Triheptanoin: long-term effects in the very long-chain acyl-CoA dehydrogenase (VLCAD-/-)-deficient mouse. J Lipid Res, 2017; 58 (1): 196-207. : http://dx.doi.org/10.1194/jlr.M072033
- Tucci S, Flögel U, Spiekerkoetter U: Sexual dimorphism of lipid metabolism in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice in response to medium-chain triglycerides (MCT) Bba-mol Basis Dis, 2015; 1852 (7): 1442-1450. : http://10.1016/j.bbadis.2015.04.009. Epub 2015 Apr 15
- Tucci S, Herebian D, Sturm M, Seibt A, Spiekerkoetter U: Tissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid Plos One, 2012; 7 (9): e45429-e45429. : http://dx.doi.org/10.1371/journal.pone.0045429
- Tucci S, Krogmann A, Herebian D, Spiekerkoetter U: Renal response to short- and long-term exercise in very-long-chain acyl-CoA dehydrogenase-deficient (VLCAD−/−) mice Molecular and Cellular Pediatrics, 2014; 1 (5): 1-8.
- Tucci S, Mingirulli N, Wehbe Z, Dumit VI, Kirschner J, Spiekerkoetter U: Mitochondrial fatty acid biosynthesis and muscle fiber plasticity in very Febs Lett, 2018; 592 (2): 219-232. : http://dx.doi.org/10.1002/1873-3468.12940
- Tucci S, Mingirulli N, Wehbe Z, Dumit VI, Kirschner J, Spiekerkoetter U: Mitochondrial fatty acid biosynthesis and muscle fiber plasticity in very Febs Lett, 2018; 592 (2): 219-232. : http://dx.doi.org/10.1002/1873-3468.12940
- Tucci S, Pearson S, Herebian D, Spiekerkoetter U: Long-term dietary effects on substrate selection and muscle fiber type in Bba-mol Basis Dis, 2013; 1832 (4): 509-516. : http://dx.doi.org/10.1016/j.bbadis.2013.01.006
- Tucci S*, Flogel U*, Hermann S, Sturm M, Schafers M, Spiekerkoetter U: Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice. Bba-mol Basis Dis, 2014; 1842 (5): 677-685. : http://dx.doi.org/10.1016/j.bbadis.2014.02.001
- Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A.: Aminoacylase 1 deficiency associated with autistic behavior. J Inherit Metab Dis, 2011. (in Druck)
- Uainskien R, Grineviien V, Lukaien A, Kaltenis P, Lehnert W: Chronic Tyrosinemia Type I. First Case With Confirmed Diagnosis and Treatment in Baltic Countries Acta Medica Lithuanica, 2000; 7: 190-193.
- Ubenauf KM, Krueger M, Henneke P, Berner R: Lipopolysaccharide binding protein is a potential marker for invasive bacterial infections in children. Pediatr Infect Dis J, 2007; 26 (2): 159-162. : http://dx.doi.org/10.1097/01.inf.0000253064.88722.6d
- Ubenauf KM, Krueger M, Henneke P, Berner R: Lipopolysaccharide binding protein (LBP) is a sensitive parameter of invasive bacterial infections in children. Pediatr Infect Dis J, 2007; 26: 159-162.
- Überall MA, Wenzel D, Hertzberg H, Langer T, Meier W, Berger-Jones K, Huk WJ, Neuhauser G, Lampert F, Beck JD, Korinthenberg R: CNS late effects after ALL therapy in childhood. Part II: Conventional EEG recordings in asymptomatic long-term survivors of childhood-ALL - an evaluation of the interferences between neurophysiology, neurology, psychology and morphology. German Late Effects Working Group. Medical and Pediatric Oncology, 1997; 29: 121-131.
- Udi J, Kohler TC, Grohmann J, Bauml M, Grundmann S, Bode C, Biever P, Duerschmied D: A challenging case of severe pulmonary bleeding in a patient with congenital ventricular septal defect (VSD) and Eisenmenger syndrome: extracorporeal membrane oxygenation (ECMO) support and weaning strategies. Clin Res Cardiol, 2019. : http://dx.doi.org/10.1007/s00392-019-01544-5
- Ueberall MA, Skirl G, Straßburg HM, Wenzel D, Hertzberg H, Langer T, Meier W, Berger-Jones K, Huk WJ, Korinthenberg R, Beck JD: Neurophysiological findings in long-term survivors of acute lymphoblastic leukaemia in childhood treated with the BFM protocol 81 SR-A/B Eur. J. Pediatr., 1997; 156: 727-733.
- Uhl M, Altehoefer C, Kontny U, Il'yasov K, Buchert M, Langer M: MRI-diffusion imaging of neuroblastomas: first results and correlation to histology. Eur Radiol, 2002; 12 (9): 2335-2338.
- Uhl M, Krauss M, Kern S, Herget G, Hauer MP, Altehoefer C, Darge K, Berner R, Langer M: The knee joint in early juvenile idiopathic arthritis. An ROC study for evaluating the diagnostic accuracy of contrast-enhanced MR imaging. Acta Radiol, 2001; 42 (1): 6-9.
- Uhl M, Saueressig U, Koehler G, Kontny U, Niemeyer CM, Reichardt W, Ilyasof K, Bley T, Langer M: Evaluation of tumour necrosis during chemotherapy with diffusion-weighted MR imaging: preliminary results in osteosarcoma. Pediatr Radiol, 2006; 36 (12): 1306-1311.
- Uhl M, Saueressig U, van Buiren M, Kontny U, Niemeyer C, Kohler G, Ilyasov K, Langer M: Osteosarcoma: preliminary results of in vivo assessment of tumor necrosis after chemotherapy with diffusion- and perfusion-weighted magnetic resonance imaging. Invest Radiol, 2006; 41 (8): 618-623.
- Uhl M, Zimmerhackl LB: [In Process Citation] Radiologe, 2002; 42 (11): 916-931.
- UHL M, PAWLIK H, LAUBENBERGER J, DARGE K, BABORIE A, KORINTHENBERG R, LANGER M: MR findings in pontocerebellar hypoplasia. Pediatr. Radiol., 1998; 28: 547-551.
- Ullmann MV, Gorenflo M, Bolenz C, Sebening C, Goetze M, Arnold R, Ulmer HE, Hagl S: Late results after extended pulmonary artery reconstruction in the arterial switch operation. Ann Thorac Surg, 2006; 81 (6): 2259-2266.
- Ulmer C, Kopp M, Ihorst G, Frischer T, Forster J, Kühr J: Effects of ambient ozone in spring and summer on pulmonary function of schoolchildren. Pediatr Pulmonol, 1997; 23: 344-353.
- Ulmer C, Kopp M, Ihorst G, Moseler M, Forster J, Kühr J: Allergische Entzündung der Nasenschleimhaut bei pollensensibilisierten Kindern während natürlicher Pollen-Exposition. Sozialpäd u KiPra, 1996; 18: 104-110.
- Unger S, Böhm D, Kaiser FJ, Kaulfuss S, Borozdin W, Buiting K, Burfeind P, Böhm J, Barrionuevo F, Craig A, Borowski K, Keppler-Noreuil K, Schmitt-Mechelke T, Steiner B, Bartholdi D, Lemke J, Mortier G, Sandford R, Zabel B, Superti-Furga A, Kohlhase J: Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations. Nat Genet, 2008; 40 (3): 287-289.
- Unger S, Gorna MW, Le Bechec A, Do Vale-Pereira S, Bedeschi MF, Geiberger S, Grigelioniene G, Horemuzova E, Lalatta F, Lausch E, Magnani C, Nampoothiri S, Nishimura G, Petrella D, Rojas-Ringeling F, Utsunomiya A, Zabel B, Pradervand S, Harshman K, Campos-Xavier B, Bonafe L, Superti-Furga G, Stevenson B, Superti-Furga A: FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet, 2013; 92 (6): 990-995. : http://dx.doi.org/10.1016/j.ajhg.2013.04.020
- Unger S, Lausch E, Rossi A, Megarbane A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafe L, Zabel B, Superti-Furga A: Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A, 2010; 152A (10): 2543-2549. : http://dx.doi.org/10.1002/ajmg.a.33641
- Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A: Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet A, 2011; 155 (11): 2860-2864. : http://dx.doi.org/10.1002/ajmg.a.34268
- Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A: Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy? Am J Med Genet A, 2011; 155A (11): 2860-2864. : http://dx.doi.org/10.1002/ajmg.a.34268
- Unger S, Mainberger A, Spitz C, Bähr A, Zeschnigk C, Zabel B, Superti-Furga A, Morris-Rosendahl DJ: Filamin A mutation is one cause of FG syndrome. Am J Med Genet A, 2007; 143 (16): 1876-1879.
- Unger S, Paul DA, Nino MC, McKay CP, Miller S, Sochett E, Braverman N, Clarke JT, Cole DE, Superti-Furga A: Mucolipidosis II presenting as severe neonatal hyperparathyroidism. Eur J Pediatr, 2005; 164 (4): 236-243.
- Unger S,, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A.: Clinical and radiographic delineation of odontochondrodysplasia. Am J Med Genet A, 2008; 146 (6): 770-778.
- Unger S,, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L,, Zabel B,, Superti-Furga A: Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A, 2010; 152 (10): 2543-2549.
- Unseld B, Stiller B, Borth-Bruhns T, du Bois F, Kroll J, Grohmann J, Fleck T: An Early Glenn Operation May be Associated with the Later Occurrence of Protein-Losing Enteropathy in Fontan Patients : Association of Early Glenn and Failing Fontan. Pediatr Cardiol, 2017; 38 (6): 1155-1161. : http://dx.doi.org/10.1007/s00246-017-1632-7
- Urbanek R, Heinzmann A: Allergologische Diagnostik im Kindesalter Kinder- und Jugendarzt, 2010; 00: 00-00. (in Druck)
- v. Maydell B, Kopp MV, Komorowski G, Joes A, Juengling FD, Korinthenberg R: Hashimoto Encephalopathy - is it underdiagnosed in pediatric patients? Neuropediatrics, 2002; 33: 86-89.
- Vallbracht S, Jessen B, Mrusek S, Enders A, Collins PL, Ehl S, Krempl CD: Influence of a single viral epitope on T cell response and disease after infection of mice with respiratory syncytial virus. J Immunol, 2007; 179 (12): 8264-8273.
- Vallbracht S, Unsold H, Ehl S: Functional impairment of cytotoxic T cells in the lung airways following respiratory virus infections. Eur J Immunol, 2006; 36 (6): 1434-1442.
- Vallbracht S, Unsold H, Ehl S: Functional impairment of cytotoxic T cells in the lung airways following respiratory virus infections. Eur J Immunol, 2006; 36 (6): 1434-1442. : http://dx.doi.org/10.1002/eji.200535642
- van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospisilova D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF: Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica, 2018. : http://dx.doi.org/10.3324/haematol.2018.196295 (in Druck)
- van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospisilova D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF: Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica, 2019; 104 (2): e51-e53. : http://dx.doi.org/10.3324/haematol.2018.196295
- van Buiren M, Häberle H, Mathes L, Schwarz R: Rehabilitation von Familien krebskranker Kinder und Jugendlicher - Psychosozialer Langzeitverlauf Klin. Pädiatr., 1998; 210: 304-309.
- van Dam TJP, Kennedy J, van der Lee R, de Vrieze E, Wunderlich KA, Rix S, Dougherty GW, Lambacher NJ, Li C, Jensen VL, Leroux MR, Hjeij R, Horn N, Texier Y, Wissinger Y, van Reeuwijk J, Wheway G, Knapp B, Scheel JF, Franco B, Mans DA, van Wijk E, Kepes F, Slaats GG, Toedt G, Kremer H, Omran H, Szymanska K, Koutroumpas K, Ueffing M, Nguyen TT, Letteboer SJF, Oud MM, van Beersum SEC, Schmidts M, Beales PL, Lu Q, Giles RH, Szklarczyk R, Russell RB, Gibson TJ, Johnson CA, Blacque OE, Wolfrum U, Boldt K, Roepman R, Hernandez-Hernandez V, Huynen MA: CiliaCarta: An integrated and validated compendium of ciliary genes. Plos One, 2019; 14 (5) (online): e0216705-e0216705. : http://dx.doi.org/10.1371/journal.pone.0216705
- van der Burgt I, Kupsky W, Stassou S, Nadroo A, Barrpse C, Diem A, Kratz CP, Dvorsky R, Ahmadian MR, Zenker M: Myopathy caused by HRAS germline mutations - implications for disturbed myogenic differentiation in the presence of constitutive H-Ras activation. J Genet, 2007; 44: 459-462.
- van der Sluis I, Möricke A, Escherich G, von Stackelberg A, Holter W, Klingebiel T, Flotho C, Legien S, Tissing W, Bierings M, Guimbal-Schmolck C, Pichlmeier U, Kuhnel HJ, Pieters R: Pediatric acute lymphoblastic leukemia: Efficacy and safety of recombinant E. coli-asparaginase in infants (less than one year of age) with acute lymphoblastic leukemia Haematol-hematol J, 2013; 98 (11): 1697-1701. : http://dx.doi.org/10.3324/haematol.2013.090563
- van Diessen E, Hanemaaijer Jl, Otte WM, Zelmann R, Jacobs J, Jansen FE, Dubeau F, Stam CJ, Gotman J, Zijlmans M: Are high frequency oscillations associated with altered network topology in partial epilepsy Neuroimage, 2013; 15 (82): 564-573.
- van Dijk SC, de Jongh RT, Enneman AW, Ham AC, Swart KM, van Wijngaarden JP, van der Zwaluw NL, Brouwer-Brolsma EM, van Schoor NM, Dhonukshe-Rutten RA, Lips P, de Groot CP, Smulders YM, Blom HJ, Feskens EJ, Geleijnse JM, van den Meiracker AH, Mattace Raso FU, Uitterlinden AG, Zillikens MC, van der Velde N: Arterial stiffness is not associated with bone parameters in an elderly hyperhomocysteinemic population. J Bone Miner Metab, 2016; 34 (1): 99-108. : http://dx.doi.org/10.1007/s00774-015-0650-x
- van Dijk SC, Enneman AW, Swart KM, van Wijngaarden JP, Ham AC, Brouwer-Brolsma EM, van der Zwaluw NL, Blom HJ, Feskens EJ, Geleijnse JM, van Schoor NM, Dhonukshe-Rutten RA, de Jongh RT, Lips P, de Groot LC, Uitterlinden AG, Smulders YM, van den Meiracker AH, Mattace Raso FU, van der Velde N: Effects of 2-year vitamin B12 and folic acid supplementation in hyperhomocysteinemic elderly on arterial stiffness and cardiovascular outcomes within the B-PROOF trial. J Hypertens, 2015; 33 (9): 1897-906; discussion 1906. : http://dx.doi.org/10.1097/HJH.0000000000000647
- van Dijk SC, Enneman AW, Swart KM, van Wijngaarden JP, Ham AC, de Jonge R, Blom HJ, Feskens EJ, Geleijnse JM, van Schoor NM, Dhonukshe-Rutten RA, de Jongh RT, Lips P, de Groot LC, Uitterlinden AG, van den Meiracker TH, Mattace-Raso FU, van der Velde N, Smulders YM: Effect of vitamin B12 and folic acid supplementation on biomarkers of endothelial function and inflammation among elderly individuals with hyperhomocysteinemia. Vasc Med, 2016; 21 (2): 91-98. : http://dx.doi.org/10.1177/1358863X15622281
- van Dijk SC, Enneman AW, van Meurs J, Swart KM, Ham AH, van Wijngaarden JP, Brouwer-Brolsma EM, van der Zwaluw NL, van Schoor NM, Dhonukshe-Rutten RA, de Groot LC, Lips P, Uitterlinden AG, Blom H, Geleijnse JM, Feskens E, de Jongh RT, Smulders YM, van den Meiracker AH, Mattace-Raso FU, van der Velde N: B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness. Nutr Metab Cardiovas, 2014; 24 (7): 760-766. : http://dx.doi.org/10.1016/j.numecd.2014.01.008
- van Dijk SC, Sohl E, Oudshoorn C, Enneman AW, Ham AC, Swart KM, van Wijngaarden JP, Brouwer-Brolsma EM, van der Zwaluw NL, Uitterlinden AG, de Groot LC, Dhonukshe-Rutten RA, Lips P, van Schoor NM, Blom HJ, Geleijnse JM, Feskens EJ, Smulders YM, Zillikens MC, de Jongh RT, van den Meiracker AH, Raso FU, van der Velde N: Non-linear associations between serum 25-OH vitamin D and indices of arterial stiffness and arteriosclerosis in an older population. Age Ageing, 2015; 44 (1): 136-142. : http://dx.doi.org/10.1093/ageing/afu095
- van Dijk SC, Swart KM, Ham AC, Enneman AW, van Wijngaarden JP, Feskens EJ, Geleijnse JM, de Jongh RT, Blom HJ, Dhonukshe-Rutten RA, de Groot LC, van Schoor NM, Lips P, Uitterlinden AG, Mattace Raso FU, Smulders YM, van den Meiracker AH, van der Velde N: Physical Fitness, Activity and Hand-Grip Strength Are Not Associated with Arterial Stiffness in Older Individuals. J Nutr Health Aging, 2015; 19 (7): 779-784. : http://dx.doi.org/10.1007/s12603-015-0519-7
- van Eijkelenburg NKA, Rasche M, Ghazaly E, Dworzak MN, Klingebiel T, Rossig C, Leverger G, Stary J, De Bont ESJM, Chitu DA, Bertrand Y, Brethon B, Strahm B, van der Sluis IM, Kaspers GJL, Reinhardt D, Zwaan CM: Clofarabine, high-dose cytarabine and liposomal daunorubicin in pediatric relapsed/refractory acute myeloid leukemia: a phase IB study. Haematologica, 2018; 103 (9): 1484-1492. : http://dx.doi.org/10.3324/haematol.2017.187153
- van Haselen RA, Reiber U, Nickel I, Jakob A, Fisher PA: Providing Complementary and Alternative Medicine in primary care: the primary care workers' perspective. Complement Ther Med, 2004; 12 (1): 6-16. : http://dx.doi.org/10.1016/S0965-2299(03)00140-7
- van Klink NE, van`t Klooster MA, Leijten FS, Jacobs J, Braun KP, Zijlmans M: Ripples on rolandic spikes: A marker of epilepsy severity. Epilepsia, 2016; 57 (7): 1179-1189.
- van Kuilenburg AB, Dobritzsch D, Meijer J, Meinsma R, Benoist JF, Assmann B, Schubert S, Hoffmann GF, Duran M, de Vries MC, Kurlemann G, Eyskens FJ, Greed L, Sass JO, Schwab KO, Sewell AC, Walter J, Hahn A, Zoetekouw L, Ribes A, Lind S, Hennekam RC: Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. Bba-mol Basis Dis, 2010; 1802 (7-8): 639-648. : http://dx.doi.org/10.1016/j.bbadis.2010.03.013
- van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME: Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3). Hum Genet, 2009; 125 (5-6): 581-590. : http://dx.doi.org/10.1007/s00439-009-0653-6
- van Kuilenburg AB, Meijer J, Gökcay G, Baykal T Rubio-Gozalbo ME, Mul AN,, de Die-Smulders CE, Weber P Mori AC, Bierau J, Fowler B Macke K, Sass JO, Meinsma R Hennermann JB, Miny P Zoetekouw L, Roelofsen J Vijzelaar R, Nicolai J Hennekam RC.: Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD. Nucleosides Nucleotides Nucleic Acids, 2010; 29 (4-6): 509-514.
- Vannier C,, Behnisch W, Bartsch I, Sandrock K, Ertle F, Schmidt K, Busse A, Superti-Furga A, Kulozik A, Santoso S,, Zieger B.: Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type I. Klin Padiatr, 2010; 222 (3): 150-153.
- van Tilburg CM, Milde T, Witt R, Ecker J, Hielscher T, Seitz A, Schenk JP, Buhl JL, Riehl D, Fruhwald MC, Pekrun A, Rossig C, Wieland R, Flotho C, Kordes U, Gruhn B, Simon T, Linderkamp C, Sahm F, Taylor L, Freitag A, Burhenne J, Foerster KI, Meid AD, Pfister SM, Karapanagiotou-Schenkel I, Witt O: Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia. Clin Epigenetics, 2019; 11 (1): 188-188. : http://dx.doi.org/10.1186/s13148-019-0775-1
- van Weeghel M,, Te Brinke H, van Lenthe H, Kulik W, Minkler PE,, Stoll MS, Sass JO, Janssen U, Stoffel W, Schwab KO, Wanders RJ, Hoppel CL, Houten SM: Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
Faseb J, 2012; 26 (10): 4316-4326. : http://doi: 10.1096/fj.12-206326
- Vargas-Poussou R, Feldmann D, Vollmer M, Konrad M, Kelly L, van den Heuvel LPWJ, Tebourbi L, Brandis M, Karolyi L, Hebert SC, Lemmink HH, Deschenes G, Hildebrandt F, Seyberth HJ, Guay-Woodford LM, Knoers NAVM, Antignac C: Novel molecular variants of teh Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am. J. Hum. Genet., 1998; 62: 1332-1340.
- Vazquez-Jimenez JF, Däbritz S, Gildein HP, Hügel W, v. Bernuth G, Mocellin R, Messmer BJ: Chirurgische Entfernung fehlplazierter "buttoned device" nach Sideris 15 und 376 Tage nach Vorhofseptumdefekt-Katheterverschluß. Operativer Befund. Risikofaktoren. Herz/Kreisl, 1997; 29: 47-50.
- Veith M, Bender M, Lehnert T, Zimmer M, Jakob A: Novel single-source precursors for the fabrication of PbTiO3, PbZrO3 and Pb(Zr(1-x)Ti(x))O3 thin-films by chemical vapor deposition. Dalton T, 2011; 40 (5): 1175-1182. : http://dx.doi.org/10.1039/c0dt00830c
- Venhoff N, Lebrecht D, Deveaud C, Beauvoit B, Bonnet J, Muller K, Kirschner J, Venhoff AC, Walker UA: Oral uridine supplementation antagonizes the peripheral neuropathy and encephalopathy induced by antiretroviral nucleoside analogues. Aids, 2010; 24 (3): 345-352. : http://dx.doi.org/10.1097/QAD.0b013e328335cdea
- Venhoff N, Lebrecht D, Pfeifer D, Venhoff AC, Bisse E, Kirschner J, Walker UA: Muscle fiber transdifferentiation in an experimental model of respiratory chain myopathy. Arthritis Res Ther, 2012; 14 (5) (online): R233. : http://dx.doi.org/10.1186/ar4076
- Verhaart IEC, Robertson A, Leary R, McMacken G, König K, Kirschner J, Jones CC, Cook SF, Lochmüller H: A multi-source approach to determine SMA incidence and research ready population. J Neurol, 2017; 264 (7): 1465-1473. : http://dx.doi.org/10.1007/s00415-017-8549-1
- Versporten A, Bielicki J, Drapier N, Sharland M, Goossens H: The Worldwide Antibiotic Resistance and Prescribing in European Children (ARPEC) point prevalence survey: developing hospital-quality indicators of antibiotic prescribing for children. J Antimicrob Chemoth, 2016; 71 (4): 1106-1117. : http://dx.doi.org/10.1093/jac/dkv418
- Versporten A, Sharland M, Bielicki J, Drapier N, Vankerckhoven V, Goossens H, the ARPEC project group members: The Antibiotic Resistance and Prescribing in European Children (ARPEC) Project: A neonatal and paediatric antimicrobial web-based point prevalence survey in 73 hospitals worldwide. Pediatr Infect Dis J, 2013; 32: e242-e253. : http://dx.doi.org/10.1097/INF.0b013e318286c612
- Verweyen HM, Karch H, Brandis M, Zimmerhackl LB: Enterohemorrhagic Escherichia coli infections: following transmission routes. Pediatr Nephrol, 2000; Jan;14 (1): 73-83.
- Verweyen HM, Karch H. Allerberger F., Zimmerhackl LB. für die Studie: Akuter Krankheitsverlauf EHEC-assoziierter HUS-ERkrankungen: Vergleich 1997 und 1998. Monatsschrift Kinderheilkunde, 1999; 147: 131, P58.
- Verweyen HM., Karch H., Allerberger F., Zimmerhackl LB.: Enterohemorrhagic E.Coli in pediatric HUS. A prospective study in Austria and Germany. Acta Clinica Belgica, 1999; 54: 36.
- Verweyen HM., Karch H., Allerberger F., Zimmerhackl LB.: Enterohemorrhagic Escherichia coli (EHEC) in pediatric hemolytic-uremic syndrome: a prospective study in Germany and Austrie. Infection, 1999; 27: 341-347.
- Verweyen HM., Karch H., Brandis M., Zimmerhackl LB.: Hemolytic-Uremic Syndrome (HUS) in childhood: prospective study in Germany 1997. Ped. Nephrol., 1998; 12(7): C178.
- Verweyen HM., Karch H., Ludwig K., Brandis M., Schwegler U., Rasch G., Zimmerhackl LB.: Prospektive Erfassung der HUS-Erkrankungen im Kindes- und Jugendalter in Deutschland in 1997. Monatsschrift Kinderheilkunde, 1998; 146: 443.
- Verweyen HM., Karch H. Ludwig K., Müller-Wiefel DE., Offner G., Bulla M., Zimmerhackl LB.: EHEC non-O157:H7 häufigste Ursache für HUS-Erkrankungen im frühen Kindesalter. Monatsschrift Kinderheilkunde, 1998; 146: 1155.
- Victor RG, Sweeney HL, Finkel R, McDonald CM, Byrne B, Eagle M, Goemans N, Vandenborne K, Dubrovsky AL, Topaloglu H, Miceli MC, Furlong P, Landry J, Elashoff R, Cox D: A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy. Neurology, 2017; 89 (17): 1811-1820. : http://dx.doi.org/10.1212/WNL.0000000000004570
- Visser S, Hermes W, Blom HJ, Heijboer AC, Franx A, Van Pampus MG, Bloemenkamp KW, Koopmans C, Mol BW, De Groot CJ: Homocysteinemia After Hypertensive Pregnancy Disorders at Term. J Womens Health, 2015; 24 (6): 524-529. : http://dx.doi.org/10.1089/jwh.2015.5201
- Vissers LE, Fano V, Martinelli D, Campos-Xavier B, Barbuti D, Cho TJ, Dursun A, Kim OH, Lee SH, Timpani G, Nishimura G, Unger S, Sass JO, Veltman JA, Brunner HG, Bonafe L, Dionisi-Vici C, Superti-Furga A: Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A, 2011; 155 (11): 2609-2616. : http://dx.doi.org/10.1002/ajmg.a.34325
- Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A: Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet, 2011; 88 (5): 608-615. : http://dx.doi.org/10.1016/j.ajhg.2011.04.002
- Vissers LE, Lausch E, Unger S, Campos-Xavier AB, Gilissen C, Rossi A, Del Rosario M, Venselaar H, Knoll U, Nampoothiri S, Nair M, Spranger J, Brunner HG, Bonafe L, Veltman JA, Zabel B, Superti-Furga A: Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet, 2011; 88 (5): 608-615. : http://dx.doi.org/10.1016/j.ajhg.2011.04.002
- Vlachos A, Ball S, Dahl N, Alter BP, Sheth S, Ramenghi U, Meerpohl J, Karlsson S, Liu JM, Leblanc T, Paley C, Kang EM, Leder EJ, Atsidaftos E, Shimamura A, Bessler M, Glader B, Lipton JM, Participants of Sixth Annual Daniella Maria Arturi International Consensus Conference: Diagnosing and treating Diamond Blackfan anaemia: results of an intenational clinical consensus conference. Brit J Haematol, 2008; 142 (6): 859-876.
- Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Muller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR: Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. Hum Mutat, 2016; 38 (1) (online): 34-38. : http://dx.doi.org/10.1002/humu.23070
- Voelxen N, Wehr C, Gutenberger S, Keller B, Erlacher M, Dominguez-Conde C, Bertele D, Emmerich F, Pantic M, Jennings S, Rakhmanov M, Foerster C, Martens UM, Platzbecker U, Peter HH, Fisch P, Boztug K, Eibel H, Salzer U, Warnatz K: B-cell signaling in persistent polyclonal B lymphocytosis (PPBL). Immunol Cell Biol, 2016; 94 (9): 830-837. : http://dx.doi.org/10.1038/icb.2016.46
- Voges B, Vallbracht S, Zimmer G, Bossow S, Neubert WJ, Richter K, Hobeika E, Herrler G, Ehl S: Recombinant Sendai virus induces T cell immunity against respiratory syncytial virus that is protective in the absence of antibodies. Cell Immunol, 2007; 247 (2): 85-94.
- Voges B, Vallbracht S, Zimmer G, Bossow S, Neubert WJ, Richter K, Hobeika E, Herrler G, Ehl S: Recombinant Sendai virus induces T cell immunity against respiratory syncytial virus that is protective in the absence of antibodies. Cell Immunol, 2007; 247 (2): 85-94. : http://dx.doi.org/10.1016/j.cellimm.2007.07.005
- Vogl C, Butola T, Haag N, Hausrat TJ, Leitner MG, Moutschen M, Lefebvre PP, Speckmann C, Garrett L, Becker L, Fuchs H, Hrabe de Angelis M, Nietzsche S, Kessels MM, Oliver D, Kneussel M, Kilimann MW, Strenzke N: The BEACH protein LRBA is required for hair bundle maintenance in cochlear hair cells and for hearing. Embo Rep, 2017; 18 (11): 2015-2029. : http://dx.doi.org/10.15252/embr.201643689
- Voigt M, Olbertz D, Hentschel R, Kunze M, Hagenah HP, Scholz R, Wittwer-Backofen U, Hesse V, Straube S: Perzentilwerte für die Körpermaße neugeborener Drillinge – Ergebnisse der deutschen Perinatalerhebung der Jahre 2007–2011 unter Beteiligung aller Bundesländer. [Percentile Values for the Anthropometric Dimensions of Triplet Neonates – Analysis of German Perinatal Survey Data of 2007–2011 from all States of Germany]. Z Geburtsh Neonatol, 2016; 220: 66-73.
- Voigt M, Pelc A, Durrani NUR, Rochow N, Weller J, Wittwer-Backofen U, Hentschel R, Schleußner E, Straube S: Maternal body mass index and smoking during pregnancy do not affect the proportional sexual dimorphism for birth weight - an analysis of the German Perinatal Survey. Anthropol Anz, 2018. : http://dx.doi.org/10.1127/anthranz/2018/0912 (in Druck)
- Voigt M,, Rochow N,, Schneider KTM,, Hagenah H-P,, Straube S,, Scholz R,, Hesse V,, Hentschel R,, Olbertz D: Neue Perzentilwerte für die Körpermaße neugeborener Zwillinge: Er-gebnisse der deutschen Perinatlerhebung der Jahre 2007-2011unter Beteilugung aller 16 Bundesländer. Z Geburtsh Neonatol, 2014; 218: 254-260.
- Volceanov L, Herbst K, Biniossek M, Schilling O, Haller D, Nölke T, Subbarayal P, Rudel T, Zieger B, Häcker G: Septins arrange F-actin-containing fibers on the Chlamydia trachomatis inclusion and are required for normal release of the inclusion by extrusion. Mbio, 2014; 5 (5): 1802-1814. : http://dx.doi.org/10.1128/mBio.01802-14
- Vollmer, M., Jung, M., Rüschendorf F, Ruf R, Wienker T, Reis A, Krapf R, Hildebrandt F: The gene for human fibronectin glomerulopathy (GFND) maps to 1q32 in the region of the regulator of complement activation (RCA) gene cluster Am J Hum Genet, 1998; 63: 1724-1731.
- Vollmer M, Jeck N, Lemmink HH, Vargas R, Feldmann D, Konrad M, Beekmann F, van Den Heuvel LP, Deschenes G, Guay-Woodford LM, Antignac C, Seyberth HW, Hildebrandt F, Knoers NV: Antenatal Bartter syndrome with sensorineural deafness: refinement of the Nephrol Dial Transpl, 2000; 15 (7): 970-974. : http://ndt.oupjournals.org/cgi/content/abstract/15/7/970
- Vollmer M, Koehrer M, Topaloglu R, Strahm B, Omran H, Hildebrandt F: Two novel mutations of the gene for Kir 1.1 (ROMK) in neonatal Bartter syndrome. Pediatr. Nephrol., 1998; 12: 69-71.
- Vollmer M, Konrad M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrnadt F: Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome J Am Soc Nephrol, 2000; 11: 1449-1459.
- Vollmer M, Krapf R, Hildebrandt F: Exclusion of the uteroglobin gene as a candidate for fibronectin glomerulopathy (GFND) Nephrol Dial Transplant, 1998; 13: 2417-2418.
- Vollmer M, Kremer M, Ruf R, Miot S, Nothwang HG, Wirth J, Otto E, Krapf R, Hildebrandt F: Molecular cloning of the critical region for glomerulopathy with Genomics, 2000; 68 (2): 127-135.
- Volz A, Melkaoui R, Hildebrandt F, Omran H: Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Loken syndrome type 3. Cytogenet Genome Res, 2002; 97 (3-4): 163-166.
- Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG: Expanding the clinical phenotype of IARS2-related mitochondrial disease. Bmc Med Genet, 2018; 19 (1) (online): 196-196. : http://dx.doi.org/10.1186/s12881-018-0709-3
- von Both U, Buerckstuemmer A, Fluegge K, Berner R: Heterogeneity of genotypic-phenotypic correlation among macrolide resistant Streptococcus agalactiae isolates Antimicrob Agents Ch, 2005; 49: 3080-3082.
- von Both U, John A, Fluegge K, Siedler A, Berner R: Molecular epidemiology of invasive neonatal Streptococcus agalactiae isolates in Germany. Pediatr Infect Dis J, 2008; 27 (10): 903-906. : http://dx.doi.org/10.1097/INF.0b013e318178d1ff
- von Both U, Simon A, Hufnagel M, Hübner J: Antibiotic Stewardship im stationären Bereich der Pädiatrie Kinder- und Jugendarzt, 2016; 47: 212-220.
- Von Both U, Ruess M, Mueller U, Fluegge K, Sander A, Berner R: A serotype V clone is predominant among erythromycin resistant Streptococcus agalactiae isolates in a south-western region of Germany J Clin Microbiol, 2003; 41: 2166-2169.
- Von Both Ulrich, Baehr Anna, Kontny Udo, Kromeier Jochen, Batsford Steve, Berner Reinhard: A boy with a mediastinal tumour Lancet, 2004; 264: 474-474.
- Von D. Hardt K, Zimmerhackl LB, De Broe ME, Brandis M: Indicators of acute renal tubular toxicity in children with immunosupressive therapy. J of Medical and Pediatric Oncology, 1997; 4: 107-119.
- von der Hardt K, Zimmerhackl LB, de Broe ME, Niemeyer C, Nuyts GD, Brandis M: Indicators of acute nephrotoxicity during chemotherapy in childhood. Int J Pediatr Hematol Oncol, 1997; 4: 107-119.
- VON KEMPIS J, KALDEN P, GUTFLEISCH B, GRIMBACHER B, KRAUSE T, UHL B, VOLK B, KETELSEN UP, RÖTHER E, VAITH P, PETER HH: Diagnosis of idiopathic myositis: value of 99m technetium pyrophosphate muscle scintigraphy and magnetic resonance imaging in targeted muscle biopsy. Rheumatol. Int., 1998; 17: 207-213.
- von Mach MA, Hermanns-Clausen M, Koch I, Hengstler JG, Lauterbach M, Kaes J, Weilemann LS: Experiences of a poison center network with renal insufficiency in acetaminophen overdose: an analysis of 17 cases. Clinical toxicology (Philadelphia, Pa.), 2005; 43 (1): 31-37.
- von Schnakenburg C, Breme K, Fink C, Meller J, Zappel HF, Peuster M: [Case report: neonatal hypertension]. Klin Padiatr, 2002; 214 (6): 343-346.
- von Schnakenburg C, Feneberg R, Plank C, Zimmering M, Arbeiter K, Bald M, Fehrenbach H, Griebel M, Licht C, Konrad M, Timmermann K, Kemper MJ: Percutaneous endoscopic gastrostomy in children on peritoneal dialysis. Periton Dialysis Int, 2006; 26 (1): 69-77.
- von Schnakenburg C, Fink C, Peuster M: Histology of a stented aortic segment with critical coarctation 10 months after implantation. Cardiol Young, 2002; 12 (3): 288-289.
- von Schnakenburg C, Fliegauf M, Omran H: Nephrocystin and ciliary defects not only in the kidney? Pediatr Nephrol, 2007; 22 (6): 765-769.
- von Schnakenburg C, Frankenschmidt A, Neumann J, Häffner K, Jeck N, Pohl M: [Polyhydramnios, prematurity, dystrophy, polyuria, constipation, nephrocalcinosis and renal tumor: presentation of a classic tubulopathy] Klin Padiatr, 2008; 220 (1): 24-25. : http://dx.doi.org/10.1055/s-2007-992783
- von Schnakenburg C, Gloy J: Diagnostik, Prophylaxe und Therapie der (enkapsulierenden) sklerosierenden Peritonitis. Mitteilungsheft Nephrologie, 2007; 36: 39-43.
- von Schnakenburg C, Hufnagel M, Superti-Furga A, Rieger-Fackeldey E, Berner R: [Successful continuous renal replacement therapy in a neonate with early-onset group B streptococcal sepsis and multi-organ dysfunction syndrome] Klin Padiatr, 2009; 221 (4): 251-253. : http://dx.doi.org/10.1055/s-0028-1105917
- von Schnakenburg C, Peuster M, Norozi K, Roebl M, Maibohm M, Wessel A, Fink C: Acute pulmonary edema caused by epoprostenol infusion in a child with scimitar syndrome and pulmonary hypertension. Pediatr Crit Care Med, 2003; 4 (1): 111-114.
- von Schnakenburg C, Strehlau J, Ehrich JH, Melk A: Quantitative gene expression of TGF-beta1, IL-10, TNF-alpha and Fas Ligand in renal cortex and medulla. Nephrol Dial Transpl, 2002; 17 (4): 573-579.
- Von Schnakenburg C, Fink C, Peuster M, Wessel A, Vazquez-Jimenez JF: Permanent Pacemaker Implantation in a 1445 g Preterm Neonate on the First Day of Life. Thorac Cardiov Surg, 2002; 50 (6): 363-365.
- von Schnakenburg C, Pohl M, Häffner K, Zimmerhackl LB, Brandis M: Sclerosing peritonitis without reduced ultrafiltration as complication of peritoneal dialysis. Klin Padiatr, 2005; 217 (1): 41-44.
- Vougioukas V.I., Berlis A, Kopp M.V., Korinthenberg R, Spreer J, Velthoven van V: Neurosurgical interventions in children with Maroteaux-Lamy syndrome Pediatr Neurosurg, 2001; 35: 35-38.
- Vougioukas V.I., Omran H., Gläsker S., van Velthoven V.: Far lateral supracerebellar infraten-torial approach for the treatment of pontomesencephalic gliomas: clinical experience with pediatric patients Child Nerv Syst, 2005; 21: 1037-1041.
- Vougioukas VI, Berlis A, Kopp MV, Korinthenberg R, Spreer J, van Velthoven V: Neurosurgical Interventions in Children with Maroteaux-Lamy Syndrome. case report and review of the literature. Pediatr Neurosurg, 2001; 35: 35-38.
- Vougioukas VI, Glasker S, Hubbe U, Berlis A, Omran H, Neumann HP, Van Velthoven V: Surgical treatment of hemangioblastomas of the central nervous system in pediatric patients. Child Nerv Syst, 2005; 21: 1-5.
- Vraetz T, Emanuel PD, Niemeyer CM: In vitro regulation of colony stimulating factor-mediated hematopoiesis in healthy individuals and patients with different types of myeloproliferative disease. Methods Mol Biol, 2003; 215: 293-309.
- Vry J, Gramsch K, Rodger S, Thompson R, Steffensen BF, Rahbek J, Doerken S, Tassoni A, Beytia ML, Guergueltcheva V, Chamova T, Tournev I, Kostera-Pruszczyk A, Kaminska A, Lusakowska A, Mrazova L, Pavlovska L, Strenkova J, Vondracek P, Garami M, Karcagi V, Herczegfalvi A, Bushby K, Lochmuller H, Kirschner J: European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences. J Neuromuscul Dis, 2016; 3 (4): 517-527. : http://dx.doi.org/10.3233/JND-160185
- Vry J, Linder-Lucht M, Berweck S, Bonati U, Hodapp M, Uhl M, Faist M, Mall V: Altered cortical inhibitory function in children with spastic diplegia: A TMS study Exp Brain Res, 2008; 186: 611-618.
- Vry J, Schubert IJ, Semler O, Haug V, Schonau E, Kirschner J: Whole-body vibration training in children with Duchenne muscular dystrophy and spinal muscular atrophy. Eur J Paediatr Neuro, 2014; 18 (2): 140-149. : http://dx.doi.org/10.1016/j.ejpn.2013.09.005
- W. v. Petrykowski: Endokrinologische Aspekte in der Adoleszenz. TW Pädiatrie, 1995; 8: 370-376.
- Wagenfeld A, Yeung C-H, Lehnert W, Nieschlag E, Cooper TG: Lack of Glutamate Transporter EAAC1 in the Epididymis of Infertile c-ros Receptor Tyrosine-Kinase Deficient Mice. J Androl, 2002; 23: 772-782.
- Wagner J, Schoene-Bake JC, Malter MP, Urbach H, Huppertz HJ, Elger CE, Weber B: Quantitative FLAIR analysis indicates predominant affection of the amygdala in antibody-associated limbic encephalitis. Epilepsia, 2013; 54 (9): 1679-1687. : http://dx.doi.org/10.1111/epi.12320
- Wagner J,, Schoene-Bake JC, Bien CG, Urbach H, Elger CE, Weber B: Automated 3D MRI volumetry reveals regional atrophy differences in Rasmussen encephalitis. Epilepsia, 2012; 53 (4): 613-621. : http://doi: 10.1111/j.1528-1167.2011.03396.x
- Wahn U, Bergmann R, Kulig M, Forster J, Bauer CP: The natural cours of sensitization and topic disease in infancy and childhood Pediatr. Allergy Immu., 1997; 8 (Suppl. 10): 16-20.
- Wahn U., Lau S., Bergmann R., Kulig M., Forster J., Bergmann K., Bauer C.P., Guggenmoos-Holzmann I.: Indoor allergen exposure is a risk factor for sensitization during the first three years of life. J. Allergy Chlin. Immunol., 1997; 99: 763-769.
- Waitz M, Schmid MB, Fuchs H, Mendler MR, Dreyhaupt J, Hummler HD: Effects of automated adjustment of the inspired oxygen on fluctuations of arterial and regional cerebral tissue oxygenation in preterm infants with frequent desaturations. J Pediatr-us, 2015; 166 (2): 240-244. : http://dx.doi.org/10.1016/j.jpeds.2014.10.007
- Walaschek C, Heinzmann A, Weckmann M, Kopp MV: Sulphidoleukotriene release of cord blood basophils in response to allergen stimulation correlates with neither a family history of atopy nor a subsequent development of atopic eczema. Clin Exp Allergy, 2008; 38 (3): 458-465. : http://dx.doi.org/10.1111/j.1365-2222.2007.02923.x
- Walker U.A., Bickel M, Lütke Volksbeck S.I., Ketelsen U, Schöfer H, Setzer B, Venhoff N, Rickerts V, Staszewski S: Evidence of nucleoside analogue reverse transcriptase inhibitor-associated genetic and structural defects of mitochondria in adipose tissue of HIV-infected patients J Acq Immun Def Synd, 2002; 29: 117-121.
- Walker UA, Lebrecht D, Reichard W, Kirschner J, Bisse E, Iversen L, Venhoff AC, Venhoff N: Zidovudine induces visceral mitochondrial toxicity and intraabdominal fat gain in a rodent model of lipodystrophy. Antivir Ther, 2014; 19 (8): 783-792. : http://dx.doi.org/10.3851/IMP2758
- Walter K, Tansek M, Tobias ES, Ikegawa S, Coucke P, Hyland J, Mortier G, Iwaya, T, Nishimura G, Superti-Furga A, Unger S: COL2A1-related skeletal dysplasias with predominant metaphyseal involvement Am J Med Genet A, 2007; 143 (2): 161-167.
- Walter KN, Erlacher M, Uhl M, Budde U, Nowak G, Superti-Furga A, Zieger B: Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II. Klin Padiatr, 2009; 221 (3): 174-175. : http://dx.doi.org/10.1055/s-0029-1220702
- Walter KN, Erlacher M, Uhl M, Budde U, Noweak G, Szperti-Furga A, Zieger B: Lepirudin treatment in a girl with iliac vein thrombosis, severe pulmonary embolism and suspected heparin-induced thrombocytopenia (HIT) II. Klin Padiatr, 2009; 221 (3): 174-175.
- Walter KN,, Kienzle FB, Frankenschmidt A, Hiort O, Wudy SA, van der Werf-Grohmann N, Superti-Furga A, Schwab KO.: Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD. Horm Res Paediatr, 2010; 74: 67-71. : http://DOI: 10.1159/000313372
- Walter KN, Greenhalgh KL, Newbury-Ecob RA, Kohlhase J.: Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient. Am J Med Genet A, 2005; 140 (6): 649-651.
- Walther M, Berweck S, Schessl J, Linder-Lucht M, Fietzek UM, Glocker FX, Heinen F, Mall V: Maturation of inhibitory and excitatory motor cortex pathways in children Brain Dev-jpn, 2009; 31 (7): 562-567. : http://dx.doi.org/10.1016/j.braindev.2009.02.007
- Walther M, Juenger H, Kuhnke N, Marko Wilke M, Brodbeck V, Berweck S, Staudt M, Mall V: Motor cortex plasticity in ischemic perinatal stroke - a TMS and fMRI study Pediatr Neurol, 2009; 41 (3): 171-178.
- Walther M, Kuhnke N, Schessl J, Delvendahl I, Jung N, Kreml D, Ziemann U, Mall V: Deafferentation of neighbouring motor cortex areas does not further enhance saturated practice-dependent plasticity in healthy adults Clin Neurophysiol, 2008; 119 (4): 886-891.
- Walther M, Schessl J, Korinthenberg R, Mall V: Neuronale Plastizität I: Maturation kortikaler Exzitabilität Monatsschr Kinderh, 2004; 152 Suppl. 1: 96.
- Wang XW, Zahn Q, Coursen JD, Khan MA, Kontny HU, Yu L, Hollander MC, O'Conner PM, Fornace AJ Jr, Harris CC: Gadd45 induction of a G2/M cell cycle checkpoint. Proc Natl Acad Sci, 1999; 3096 (7): 3706-3711.
- Wang XW, Zhan Q, Coursen JD, Khan MA, Kontny HU, Yu L, Hollander MC, O'Connor PM, Fornace AJ Jr, Harris CC: GADD45 induction of a G2/M cell cycle checkpoint. P Natl Acad Sci Usa, 1999; 96 (7): 3706-3711.
- Wang Y., Huebner J., Tzianabos A., Matarosian G., Kasper D., Pier GB.: Structure of an antigenic teichoic acid shared by clinical isolates of Enterococcus faecalis and vancomycin-resistant Enterococcus faecium. Carbohydr. Resch., 1999; 316: 155-160.
- Ware J, Fujita H, Zieger B, Hashimoto Y, Russell S.: Molecular Aspects of the platelet Glycoprotein Ib/IX/V-complex in hemostasis and thrombosis. New Frontier in Vascular Biology; Thromb Haemostasis, 2000: 51-64.
- Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A: Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A, 2011; 155 (5): 943-968. : http://dx.doi.org/10.1002/ajmg.a.33909
- Wauer J, Leier TU, Henschen M, Wauer RR, Schmalisch G: In vitro validation of an ultrasonic flowmeter in order to measure the functional residual capacity in newborns. Physiol Meas, 2003; 24: 355-365.
- Webb DC, McKenzie An; Koskinen Am, Yang M, Mattes J, Foster PS: Integrated signals between IL-12, IL-4 and IL-r regulate airways hyperactivity J Immunol, 2000; 165: 108-113.
- Weber L, Armstrong VW, Lamerstdorf T, Andreeva M, Niedmann PD, Wiesel M, Mandelbaum A, Zimmerhackl LB, Mehls O, Oellerich M, Tönshoff B, and the members of the German: Pharmacokinetic Analysis of Myphenolic Acid, Free MPA-Glucuronide in pediatric and adult renal transplant recipients J. Am. Soc. Nephrol., 1998; 9: 1511-1520.
- Weber LT, Shipkova M, Armstrong VW, Wagner N, Schutz E, Mehls O, Zimmerhackl LB, Oellerich M, Tonshoff B: Comparison of the Emit immunoassay with HPLC for therapeutic drug monitoring of mycophenolic acid in pediatric renal-transplant recipients on mycophenolate mofetil therapy. Clin Chem, 2002; 48 (3): 517-525.
- Weber LT, Shipkova M, Armstrong VW, Wagner N, Schutz E, Mehls O, Zimmerhackl LB, Oellerich M, Tonshoff B: The pharmacokinetic-pharmacodynamic relationship for total and free mycophenolic Acid in pediatric renal transplant recipients: a report of the german study group on mycophenolate mofetil therapy. J Am Soc Nephrol, 2002; 13 (3): 759-768.
- Weber LT., Lamersdorf T., Shipkova M., Niedmann PD., Wiesel M., Zimmerhackl L., Staskewitz A., Schütz E., Mehls O. Oellerich M., Armstrong VW., Tönshoff B.: Area under the plasma concentration-time curve for total, but not free mycophenolic acid increases in the stable phase after renal transplantation: a longitudinal study in pediatric renal transplant recipients. Ther. Drug. Monit., 1999; 21: 498-506.
- Weber LT., Schütz E., Lamersdorf T., Shipkova M., Niedmann PD., Oellerich M., Zimmerhackl L., Stasekwitz A., Mehls O., Armstrong VW., Tönshoff B.: Pharmacocinetics of mycophenolic acid and free MPA in paediatric renal transplant recipients - a multicentre study. The german study group on mycophenolate mofetil therapy. Nephrol. Dial. Transplant, 1999; 14 Suppl. 4: 33-34.
- Weber LT., Schütz E., Lamersdorf T., Shipkova M., Niedmann PF., Oellerich M., Zimmerhackl L., Staskewitz A., Mehls O., Armstrong VW., Tönshoff B.: Therapeutic drug monitoring of total and free mycophenolic acid and limited sampling strategy for determination of MPA-AUC in paediatric renal transplant recipients. The German Study Group on Mycophenolate Mofetil Therapy. Nephrol. Dial. Transplant, 1999; 14 Suppl. 4: 34-35.
- Weber RE, Fago A, Malte H, Storz JF, Gorr TA: Lack of conventional oxygen-linked proton and anion binding sites does not impair allosteric regulation of oxygen binding in dwarf caiman hemoglobin. Am J Physiol-reg I, 2013; 305 (3): R300-R312. : http://dx.doi.org/10.1152/ajpregu.00014.2013
- Weckmann M, Collison A, Simpson JL, Kopp MV, Wark PAB, Smyth MJ, Yagita H, Matthaei K.I, Hansbro N, Whitehead B, Gibson PG, Foster PS, Mattes J: Critical link between TRAIL and CCL20 for the activation
of TH2 cells and the expression of allergic airway disease. Nat Med, 2007; 13: 1308-1315.
- Weckmann M, Kopp MV, Heinzmann A, Mattes J: Haplotypes covering the TNFSF10 gene are associated with bronchial asthma. Pediatr Allergy Immu, 2011; 22 (1): 25-30. : http://dx.doi.org/10.1111/j.1399-3038.2010.01027.x
- Wehl G, Rössler J, Otten JE, Böhm N, Uhl M, Kontny U, Niemeyer C: Response of progressive fibromatosis to therapy with liposomal doxorubicin Onkologie, 2004; 27: 552-556.
- Wehrle A, Witkos TM, Schneider JC, Hoppmann A, Behringer S, Kottgen A, Elting M, Spranger J, Lowe M, Lausch E: A common pathomechanism in GMAP-210- and LBR-related diseases. JCI Insight, 2018; 3 (23) (online): e121150-e121150. : http://dx.doi.org/10.1172/jci.insight.121150
- Wehrle I, Jakob A, Hofler P, Bauer G: Transformation of murine fibroblasts by uv-light and tgf-Beta - establishment of an autocrine tgf-Beta loop. Int J Oncol, 1994; 5 (6): 1341-1346.
- Weidner CI, Lin Q, Birkhofer C, Gerstenmaier U, Kaifie A, Kirschner M, Bruns H, Balabanov S, Trummer A, Stockklausner C, Hochsmann B, Schrezenmeier H, Wlodarski M, Panse J, Brummendorf TH, Beier F, Wagner W: DNA methylation in PRDM8 is indicative for dyskeratosis congenita. Oncotarget, 2016; 7 (10): 10765-10772. : http://dx.doi.org/10.18632/oncotarget.7458
- Weigang E, Chang XC, Munk-Schulenburg S, Richter H, von Samson P, Goebel H, Frydrychowicz A, Geibel A, Ammann S, Schwering L, Brunner T, Severin T, Czerny M, Beyersdorf F: Actual management of patients with familial ascending aortic aneurysms and type-A aortic dissections. Thorac Cardiov Surg, 2007; 55 (1): 19-23.
- Weigeldt M, Lahmann S, Krieger K, Buttenberg S, Stephan V, Stiller B, Stengel D: Pediatric out-of-hospital cardiac arrest caused by left coronary-artery agenesis with primary shockable rhythm. A brief report. Am J Emerg Med, 2017; 35: 1718-1723. : http://dx.doi.org/10.1016/j.ajem.2017.05.011
- Weigel F, Lemke A, Tonshoff B, Pape L, Fehrenbach H, Henn M, Hoppe B, Jungraithmayr T, Konrad M, Laube G, Pohl M, Seeman T, Staude H, Kemper MJ, John U: Febrile urinary tract infection after pediatric kidney transplantation: a multicenter, prospective observational study. Pediatr Nephrol, 2016; 31 (6): 1021-1028. : http://dx.doi.org/10.1007/s00467-015-3292-2
- Weigl J, Forster J, Berner R, Puppe W, Neumann-Haefelin D, Meyer CU, Zepp F, Schmitt HJ: Virale Atemwegsinfektionen mit saisonaler Häufung bei Kindern. Eine Übersicht mit Schwerpunkt auf Daten aus Deutschland bundesgesundheitsblatt, 2003; 46: 9-19.
- Weigl JA, Puppe W, Meyer CU, Berner R, Forster J, Schmitt HJ, Zepp F: RSV-prevention in children guided by a web-based early warning system Klin Padiatr, 2005; 217: 47-52.
- Weigl JA, Puppe W, Meyer CU, Berner R, Forster J, Schmitt HJ, Zepp F: Ten years' experience with year-round active surveillance of up to 19 respiratory pathogens in children Eur J Pediatr, 2007; 166: 957-966.
- Weigl JA, Puppe W, Meyer CU, Berner R, Forster J, Schmitt HJ, Zepp F: PID-ARI.net - A Pediatric Infectious Diseases Network on Acute Respiratory Infections and the Added Value of a Multilevel Research Network. Klin Padiatr, 2008; 220: 281-286.
- Weih M, Schaller G, Degirmenci U, Hufnagel M, Kornhuber J: [Differential diagnosis of neurodegenerative disorders in young adults] Fortschr Neurol Psyc, 2009; 77 (11): 662-668. : http://dx.doi.org/10.1055/s-0028-1109824
- Weitz M, Laube GF, Schmidt M, Krupka K, Murer L, Muller D, Hoppe B, Buscher A, Konig J, Pohl M, Jungraithmayr T, Thiel F, Billing H, Grenda R, Rubik J, Kaabak MM, Yalcinkaya F, Topaloglu R, Webb N, Dello Strologo L, Pape L, Nadalin S, Tonshoff B: Outcome of renal transplantation in small infants: a match-controlled analysis. Pediatr Nephrol, 2018; 33 (6): 1057-1068. : http://dx.doi.org/10.1007/s00467-018-3895-5
- Weitz M, Strahm B, Meerpohl J, Bassler D: Extracorporeal photopheresis versus standard treatment for acute graft-versus-host disease after haematopoietic stem cell transplantation in paediatric patients. Cochrane Db Syst Rev, 2014; 2 (online): CD009759. : http://dx.doi.org/10.1002/14651858.CD009759.pub2
- Weitz M, Strahm B, Meerpohl JJ, Bassler D: Extracorporeal photopheresis versus alternative treatment for chronic graft-versus-host disease after haematopoietic stem cell transplantation in paediatric patients. Cochrane Db Syst Rev, 2014; 2 (online): CD009898. : http://dx.doi.org/10.1002/14651858.CD009898.pub2
- Weitz M, Strahm B, Meerpohl JJ, Schmidt M, Bassler D: Extracorporeal photopheresis versus standard treatment for acute graft-versus-host disease after haematopoietic stem cell transplantation in paediatric patients. Cochrane Db Syst Rev, 2015; 12 (online): CD009759. : http://dx.doi.org/10.1002/14651858.CD009759.pub3
- Weitz M, Strahm B, Meerpohl JJ, Schmidt M, Bassler D: Extracorporeal photopheresis versus alternative treatment for chronic graft-versus-host disease after haematopoietic stem cell transplantation in paediatric patients. Cochrane Db Syst Rev, 2015; 12: CD009898-CD009898. : http://dx.doi.org/10.1002/14651858.CD009898.pub3
- Wei ZY, Brown W, Takasaki B, Plobeck N, Delorme D, Zhou F, Yang H, Jones P, Gawell L, Gagnon H, Schmidt R, Yue SY, Walpole C, Payza K, St-Onge S, Labarre M, Godbout C, Jakob A, Butterworth J, Kamassah A, Morin PE, Projean D, Ducharme J, Roberts E: N,N-Diethyl-4-(phenylpiperidin-4-ylidenemethyl)benzamide: a novel, exceptionally selective, potent delta opioid receptor agonist with oral bioavailability and its analogues. J Med Chem, 2000; 43 (21): 3895-3905.
- Welte T, Arnold F, Kappes J, Seidl M, Haeffner K, Bergmann C, Walz G, Neumann-Haefelin E: Treating C3 glomerulopathy with eculizumab. Bmc Nephrol, 2018; 19 (1) (online): 7-7. : http://dx.doi.org/10.1186/s12882-017-0802-4
- Wennekamp J, Henneke P: Induction and termination of inflammatory signaling in group B streptococcal sepsis. Immunol Rev, 2008; 225: 114-127. : http://dx.doi.org/10.1111/j.1600-065X.2008.00673.x
- Wenninger K, Helmes A, Bengel J, Lauten M, Volkel S, Niemeyer CM: Coping in long-term survivors of childhood cancer: relations to psychological distress. Psycho-oncology, 2013; 22 (4): 854-861. : http://dx.doi.org/10.1002/pon.3073
- Wenninger K,, Helmes A, Bengel J, Lauten M, Völkel S, Niemeyer CN: Coping in long-term survivors of childhood cancer: relations to psychological distress. Psycho-oncology, 2013; 22 (4): 854-861. : http://dx.doi.org/10.1002/pon.3073
- Werner R, Monig I, Lunstedt R, Wunsch L, Thorns C, Reiz B, Krause A, Schwab KO, Binder G, Holterhus PM, Hiort O: New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. Plos One, 2017; 12 (5) (online): e0176720-e0176720. : http://dx.doi.org/10.1371/journal.pone.0176720
- Werner S, Mendoza A, Hilger RA, Erlacher M, Reichardt W, Lissat A, Konanz C, Uhl M, Niemeyer CM, Khanna C, Kontny U: Preclinical studies of treosulfan demonstrate potent activity in Ewing's sarcoma. Cancer Chemoth Pharm, 2008; 62 (1): 19-31. : http://dx.doi.org/10.1007/s00280-007-0566-9
- Wessels MW, Avital A, Failly M, Munoz A, Omran H, Blouin JL, Willems PJ: Candidate gene analysis in three families with a cilia syndrome Am J Med Genet A, 2008; 13 (146): 1765-1767.
- Westarp ME, Bartmann P, Rossler J, Geiger E, Westphal KP, Schreiber H, Fuchs D, Westarp MP, Kornhuber HH: Antiretroviral therapy in sporadic adult amyotrophic lateral sclerosis. Neuroreport, 1993; 4 (6): 819-822.
- Weston BW, Lin J-L, Muenfzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, van Schaftingen E, Veiga-da-Cunha M, Matern D, Chen YT: Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. J Pediatr, 2000; 48: 329-334.
- Westphal CH, Sheldon R, Schmaltz C, Elson A: Atm and p53 cooperate in apoptosis and suppression of tumorigenesis, but not in resistance to acute radiation toxeicity. Nature Genetics, 1997; 16: 397-401.
- Wicker E, Lander F, Weidemann F, Hufnagel M, Berner R, Krause G: Group B Streptococci: Declining Incidence in Infants in Germany. Pediatr Infect Dis J, 2018. : http://dx.doi.org/10.1097/INF.0000000000002115 (in Druck)
- Wiegele G, Brandis M, Zimmerhackl LB: Apoptosis and necrosis during ischaemia in renal tubular cells (LLC-PK1 and MEDCK). Nephrol. Dial. Transpl., 1998; 13: 1158-1167.
- Wilhelm C, Prömpeler H, Rädecke J, Krüger M, Breckwoldt M: Außergewöhnlicher Verlauf einer fetalen Gastroschisis Z Geburtsh. Neonatol., 1998; 202: 86-88.
- Wilhelm T, Lipka DB, Witte T, Wierzbinska JA, Fluhr S, Helf M, Mucke O, Claus R, Konermann C, Nollke P, Niemeyer CM, Flotho C, Plass C: Epigenetic silencing of AKAP12 in juvenile myelomonocytic leukemia. Epigenetics, 2016; 11 (2): 110-119. : http://dx.doi.org/10.1080/15592294.2016.1145327
- Wilhem B.: Frühgeb.-Intensivpflege - ist sie gerecht? Heilberufe, 1999; 12: 30.
- Willasch A, Kreyenberg H, Shayegi N, Rettinger E, Meyer V, Zabel M, Lang P, Kremens B, Meisel R, Strahm B, Rossig C, Gruhn B, Klingebiel T, Niemeyer C, Bader P: Monitoring of hematopoietic chimerism after transplantation for pediatric myelodysplastic syndrome: real-time or conventional short tandem repeat PCR in peripheral blood or bone marrow? Biol Blood Marrow Tr, 2014; 20: 1918-1925. : http://dx.doi.org/10.1016/j.bbmt.2014.07.030.
- Williamson JR, Jakob A, Refino C: Control of the removal of reducing equivalents from the cytosol in perfused rat liver. J Biol Chem, 1971; 246 (24): 7632-7641.
- Williamson JR, Jakob A, Scholz R: Energy cost of gluconeogenesis in rat liver. Metabolism, 1971; 20 (1): 13-26.
- Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J, Lambiliotte A, Kohne E, Souillet G, Eber S, Stephan JL, Girot R, Bordigoni P, Cornu G, Blanche S, Guillard JM, Mohandas N, Tchernia G: Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Societe d'Hematologie et d'Immunologie Pediatrique (SHIP), Gesellshaft fur Padiatrische Onkologie und Hamatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res, 1999; 46 (5): 553-561. : http://dx.doi.org/10.1203/00006450-199911000-00011
- Willig TN., Niemeyer C., Leblanc T., Tiemann C., Robert A., Budde J., Lambiliotte A., Kohne E., Souillet G., Stephan JL., Girot R., Bordigoni P., Cornu G., Blanche S., Guillard JM., Mohandas N., Tchernia G.: Identification of new prognosis factors from the clinical and epidermiological analysis of a registry of 229 Diamond Blackfan anemia patients. Pediatr. Res., 1999; 46: 553-561.
- Willig T-N., Draptchinskaja N., Dianzani I., Ball S., Niemeyer C., Ramenghi U., Orfali K., Gustavsson P., Garelli E., Brusco A., Tiemann C., Bouchier C., Cicchiello L., Dahl N., Mohandas N. Tchernia G.: Mutations in ribosomal protein S19 gene and Diamond-Blackfan anemia: Wide variations in phenotypic expression. Blood, 1999; 94: 4294-4306.
- Wilsdorf N, Eiz-Vesper B, Henke-Gendo C, Diestelhorst J, Oschlies I, Hussein K, Pape L, Baumann U, Tonshoff B, Pohl M, Hocker B, Wingen AM, Klapper W, Kreipe H, Schulz TF, Klein C, Maecker-Kolhoff B: EBV-Specific T-Cell Immunity in Pediatric Solid Organ Graft Recipients With Posttransplantation Lymphoproliferative Disease. Transplantation, 2013; 95 (1): 247-255. : http://dx.doi.org/10.1097/TP.0b013e318279968d
- Wilting J, Papoutsi M, Christ B, Nicolaides KH, von Kaisenberg CS, Borges J, Stark GB, Alitalo K, Tomarev SI, Niemeyer C, Rössler J: The transcription factor Prox1 is a marker for lymphatic endothelial cells in normal and diseased human tissues. FASEB J, 2002; 16 (10): 1271-1273.
- Wimperis JZ, Niemeyer CM, Sieff CA, Mathey-Prevot B, Nathan DG, Arceci RJ: Granulocyte-macrophage colony-stimulating factor and interleukin-3 mRNAs are produced by a small fraction of blood mononuclear cells. Blood, 1989; 74 (5): 1525-1530.
- Winter GE, Rix U, Lissat A, Stukalov A, Mullner MK, Bennett KL, Colinge J, Nijman SM, Kubicek S, Kovar H, Kontny U, Superti-Furga G: An integrated chemical biology approach identifies specific vulnerability of Ewing's sarcoma to combined inhibition of Aurora kinases A and B. Mol Cancer Ther, 2011; 10 (10): 1846-1856. : http://dx.doi.org/10.1158/1535-7163.MCT-11-0100
- Wirth S, Gerner P, Friedt M, Lausch E, Truebel H, Winter K: Hepatitis B virus mutants in HBsAg positive children. Acta Gastro-ent Belg, 1998; 61 (2): 185-188.
- Wissel J, Heinen F, Schenkel A, Korinthenberg R, Deuschl G, Poewe W: Botulinum Toxin in the management of spastic limb problems in children. Mov Disorders, 1995; 10: 392.
- Witt I., Beck S., Seydewitz H.H., Tasangil C., Schenck W.: A novel homozygous missense mutation (Val 325 Ala) in the protein C gene causing neonatal purpura fulminans. Blood Coag. Fibrinol., 1994; 5: 651-653.
- Wjst M, Kruse S, Illig T, Deichmann K: Asthma and IL-4 receptor alpha gene variants. Eur J Immunogenet, 2002; 29 (3): 263-268.
- Wlodarski M: Tricky B-usiness: hematogones in aplastic anemia. Leukemia Lymphoma, 2009; 50 (12): 1905-1906.
- Wlodarski MW, Collin M, Horwitz MS: GATA2 deficiency and related myeloid neoplasms. Semin Hematol, 2017; 54 (2): 81-86. : http://dx.doi.org/10.1053/j.seminhematol.2017.05.002
- Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainman I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, LeBlanc T, Niemeyer C, Gleizes PE, MacInnes AW: Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia. Haematologica, 2018; 103: 949-958. : http://dx.doi.org/10.3324/haematol.2017.177980
- Wlodarski MW, Hirabayashi S, Pastor V, Stary J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kuhl JS, Sykora KW, Albert MH, Przychodzien B, Maciejewski JP, Schwarz S, Gohring G, Schlegelberger B, Cseh A, Noellke P, Yoshimi A, Locatelli F, Baumann I, Strahm B, Niemeyer CM: Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood, 2016; 127 (11): 1387-1397. : http://dx.doi.org/10.1182/blood-2015-09-669937
- Wlodarski MW, Motter J, Gorr TA, Olk-Batz C, Hasle H, Dworzak M, Niemeyer CM, Flotho C: Abnormal promoter DNA methylation in juvenile myelomonocytic leukemia is not caused by mutation in DNMT3A. Blood, 2011; 118 (16): 4490-4491. : http://dx.doi.org/10.1182/blood-2011-07-370684
- Wlodarski MW, Sahoo SS, Niemeyer CM: Monosomy 7 in Pediatric Myelodysplastic Syndromes. Hematol Oncol Clin N, 2018; 32 (4): 729-743. : http://dx.doi.org/10.1016/j.hoc.2018.04.007
- WÖCKEL L, KETELSEN UP, STÖTTER M, LAULE S, MEYERMANN R, BORNEMANN A: Abundant minute myotubes in a patient who later developed centronuclear myopathy. Acta Neuropath., 1998; 95: 547-551.
- Woelfle JV, Brenner RE, Zabel B, Reichel H, Nelitz M: Schmid-type metaphyseal chondrodysplasia as the result of a collagen type X defect due to a novel COL10A1 nonsense mutation: A case report of a novel COL10A1 mutation. J Orthop Sci, 2011; 16 (2): 245-249. : http://dx.doi.org/10.1007/s00776-011-0021-y
- Woellner C,, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B: Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J Allergy Clin Immun, 2010; 125 (2): 424-432.e8..
- Wohlfarth A, Toepfner N, Hermanns-Clausen M, Auwarter V: Sensitive quantification of clozapine and its main metabolites norclozapine and clozapine-N-oxide in serum and urine using LC-MS/MS after simple liquid-liquid extraction work-up. Anal Bioanal Chem, 2011; 400 (3): 737-746. : http://dx.doi.org/10.1007/s00216-011-4831-8
- Wojnarowski C, Halmerbauer G, Mayatepek E, Gartner C, Frischer T, Forster J, Kuehr J: Collaborative SPACE Team. Urinary leukotriene E(4), eosinophil protein X, and nasal Eosinophil cationic protein are not associated with respiratory symptoms in 1-year-old children. Study on the Prevention of Allergy in Children in Europe. Allergy, 2001; 56: 883-888.
- Wojnarowski C, Storm van's Gravensande K, Riedler J, Eichler I, Gartner C, Frischer T: Comparision of bronchial challenge with ultrasonic nebulized distilled water and hypertonic saline in children with mild-to-moderate asthma. Eur. Respir. J., 1996; 9: 1896-1901.
- Wolff G, Zimmermann E, Zimmerhackl B, Harnasch C, Jung C, Back E: Two brothers with characteristic facial appearance, severe psychomotor retardation, hypospadias, contractures, and other symptoms: a new recessive syndrome?. J Med Genet, 1994; 31: 65-67.
- Wolff J, Auber G, Schober T, Schwär F, Hoffmann K, Metzger M, Heinzmann A, Krüger M, Normann C, Gitsch G, Südkamp N, Reinhard T, Berger M: Work-Time Distribution of Physicians at a German University Hospital. Dtsch Arztebl Int, 2017; 114 (42): 705-711. : http://dx.doi.org/10.3238/arztebl.2017.0705
- Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmuller H: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis, 2018; 13 (online): 155-155. : http://dx.doi.org/10.1186/s13023-018-0889-0
- Worms AM, Bourlon F, Hausdorf G, Losay J, Mocellin, R, Onorato E, Rey E, Sideris EB: European clinical trial of atrial septal defect closure with the buttoned device - early and mid-term results in 125 patients. Cardiol Young, 1994; 4 (Suppl 1): 2.
- Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA: 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients. J Inherit Metab Dis, 2013; 36 (6): 913-921. : http://dx.doi.org/10.1007/s10545-012-9579-6
- Wunderle C.: Stat. Behandlung von Enkopresis-Pat. aus päd. Sicht. Kinderkrankenschwester, 1998; 11: 496.
- Wüppenhorst N, von Loewenich F, Hobmaier B, Vetter-Knoll M, Mohadjer S, Kist M: Culture of a gastric non-Helicobacter pylori Helicobacter from the stomach of a 14-year-old girl. Helicobacter, 2013; 18 (1): 1-5. : http://dx.doi.org/10.1111/j.1523-5378.2012.00990.x
- Wurm, M, Krebs,A, Doerfer, J, Otto, S, Deker, B, Gebhardt, K, Mötsch, SJ, Barth, M, Dirjak, C., Grossmann, C., Pfeiffer, S., Rädecke, S., Rosenbaum-Fabian, S, Schwab KO: Familienbezogene Adipositas-Prävention bei vier- bis siebenjährigen Kindern: Erste Ergebnisse des Schulungsprogramms »Zirkus Flitzebizz« Päd Praxis, 2017; 89: 48-60.
- Wutz D, Shayan P, Schmahl GE, Mild GC, Feil B, Roll S, Kontny HU, Niemeyer CM: Gene expression of the hematopoietic cell phosphatase in juvenile myelomonocytic leukemia. Leuk Lymphoma, 1999; 35 (5-6): 491-499. : http://dx.doi.org/10.1080/10428199909169613
- Wütz D., Shayan P., Schmahl GE. Mild GC., Feil B., Röll S., Kontny HU., Niemeyer CM.: Gene expression of the hematopoietic cell phosphatase in juvenfile myelomonocytic leukemia. Leukemia und Lymphoma, 1999; 35 (5-6): 491-499.
- Xin X, Pache M, Zieger B, Bartsch I, Prunte C, Flammer J, Meyer P: Septin expression in proliferative retinal membranes. J Histochem Cytochem, 2007; 55 (11): 1089-1094.
- Xu Z, Lo WS, Beck DB, Schuch LA, Olahova M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P: Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. Am J Hum Genet, 2018; 103 (1): 100-114. : http://dx.doi.org/10.1016/j.ajhg.2018.06.006
- Yagi M, Zieger B, Roth GJ, Ware J: Structure and expression of the human Septin gene hCDCrel-1. Blood, 1997; 90: A94.
- Yagi M, Zieger B, Roth GJ, Ware J: Structure and expression of the human septin gene hCDCrel-1 Gene, 1998; 212: 229-236.
- Yang Z, Kondo T, Voorhorst CS, Nabinger SC, Ndong L, Yin F, Chan EM, Yu M, Wurstlin O, Kratz CP, Niemeyer CM, Flotho C, Hashino E, Chan RJ: Increased c-Jun expression and reduced GATA2 expression promote aberrant monocytic differentiation induced by activating PTPN11 mutants. Mol Cell Biol, 2009; 29 (16): 4376-4393. : http://dx.doi.org/10.1128/MCB.01330-08
- Yan SE, Lemmin T, Salvi S, Lausch E, Superti-Furga A, Rokicki D, Dal Peraro M, van der Goot FG: In-depth analysis of hyaline fibromatosis syndrome frameshift mutations at the same site reveal the necessity of personalized therapy. Hum Mutat, 2013; 34 (7): 1005-1017. : http://dx.doi.org/10.1002/humu.22324
- Yao K, Poulsen K, Maione D, Rinaudo CD, Baldassarri L, Skov Sørensen UB, members of the DEVANI Study Group, Kilian M: Capsular gene typing of Streptococcus agalactiae compared to serotyping by latex agglutination. J Clin Microbiol, 2013; 51: 503-507. : http://dx.doi.org/10.1128/JCM.02417-12
- Yeganeh M, Henneke P, Rezaei N, Ehl S, Thiel D, Matamoros N, Pietrogrande C, Espanol T, Litzman J, Franco JL, Sanal O, Kilic SS, Breborowicz A, Plebani A, Renner E, Rothenfusser S, Hawn TR, Woellner C, Grimbacher B: Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome. Int Arch Allergy Imm, 2008; 146 (3): 190-194. : http://dx.doi.org/10.1159/000115886
- Yeganeh M, Henneke P, Rezaei N, Ehl S, Thiel D, Matamoros N, Pietrogrande C, Espanol T, Litzman J, Franco JL, Sanal O, Kilic SS, Breborowicz A, Plebani A, Renner E, Rothenfusser S, Hawn TR, Woellner C, Grimbacher B: Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome. Int Arch Allergy Imm, 2008; 146 (3): 190-194. : http://dx.doi.org/10.1159/000115886
- Yende S,, D'Angelo G, Kellum JA, Weissfeld L, Fine J, Welch RD, Kong L, Carter M, Angus DC; GenIMS Investigators.: Inflammatory markers at hospital discharge predict subsequent mortality after pneumonia and sepsis. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2008; 177 (11): 1241-1247.
- Yetgin S, Aytac S, Kalkanoglu S, Coskun T, Ortmann C, Kratz CP, Niemeyer CM: Biotinidase deficiency and juvenile myelomonocytic leukemia in a Turkish infant of consanguineous parents. Pediatr Hemat Oncol, 2007; 24 (6): 453-455.
- Yilmaz Z, Ceschi A, Rauber-Lüthy C, Sauer O, Stedtler U, Prasa D,, Seidel C, Hackl E, Hoffmann-Walbeck P, Gerber-Zupan G, Bauer K, Kupferschmidt H, Kullak-Ublick GA, Wilks M.: Escitalopram causes fewer seizures in human overdose than citalopram. Clin Toxicol, 2010; 48: 207-212.
- Yoshimi A, Bader P, Matthes-Martin S, Stary J, Sedlacek P, Duffner U, Klingebiel T, Dilloo D, Holter W, Zintl F, Kremens B, Sykora KW, Urban C, Hasle H, Korthof E, Revesz T, Fischer A, Nollke P, Locatelli F, Niemeyer CM: Donor leukocyte infusion after hematopoietic stem cell transplantation in patients with juvenile myelomonocytic leukemia. Leukemia, 2005; 19 (6): 971-977. : http://dx.doi.org/10.1038/sj.leu.2403721
- Yoshimi A, Baumann I, Führer M, Bergsträsser E, Göbel U, Sykora KW, Klingebiel T, Gross-Wieltsch U, van den Heuvel-Eibrink M, Fischer A, Nöllke P, Niemeyer CM: Immunosuppressive therapy with anti-thymocyte globulin and cyclosporine A in selected children with hypoplastic refractory cytopenia. Haematol-hematol J, 2007; 92 (3): 397-400.
- Yoshimi A, Kamachi Y, Imai K, Watanabe N, Nakadate H, Kanazawa T, Ozono S, Kobayashi R, Yoshida M, Kobayashi C, Hama A, Muramatsu H, Sasahara Y, Jakob M, Morio T, Ehl S, Manabe A, Niemeyer C, Kojima S: Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia. Pediatr Blood Cancer, 2013; 60 (5): 836-841. : http://dx.doi.org/10.1002/pbc.24359
- Yoshimi A, Kojima S, Hirano N: Juvenile myelomonocytic leukemia: epidemiology, etiopathogenesis, diagnosis, and management considerations. Paediatric Drugs, 2010; 12 (1): 11-21. : http://doi: 10.2165/11316200-000000000-00000
- Yoshimi A, Mohamed M, Bierings M, Urban C, Korthof E, Zecca M, Sykora KW, Duffner U, Trebo M, Matthes-Martin S, Sedlacek P, Klingebiel T, Lang P, Fuhrer M, Claviez A, Wossmann W, Pession A, Arvidson J, O'Marcaigh AS, van den Heuvel-Eibrink MM, Stary J, Hasle H, Nollke P, Locatelli F, Niemeyer CM: Second allogeneic hematopoietic stem cell transplantation (HSCT) results in outcome similar to that of first HSCT for patients with juvenile myelomonocytic leukemia. Leukemia, 2007; 21 (3): 556-560. : http://dx.doi.org/10.1038/sj.leu.2404537
- Yoshimi A, Niemeyer C, Baumann I, Schwarz-Furlan S, Schindler D, Ebell W, Strahm B: High incidence of Fanconi anemia in patients with a morphological picture consistent with refractory cytpenia of childhood. Brit J Haematol, 2013; 160 (1): 109-111.
- Yoshimi A, Niemeyer CM, Bohmer V, Duffner U, Strahm B, Kreyenberg H, Dilloo D, Zintl F, Claviez A, Wossmann W, Kremens B, Holter W, Niethammer D, Beck JF, Kontny U, Nollke P, Klingebiel T, Bader P: Chimaerism analyses and subsequent immunological intervention after stem cell transplantation in patients with juvenile myelomonocytic leukaemia. Brit J Haematol, 2005; 129 (4): 542-549. : http://dx.doi.org/10.1111/j.1365-2141.2005.05489.x
- Yoshimi A, Niemeyer CM, Fuhrer MM, Strahm B: Comparison of the efficacy of rabbit and horse antithymocyte globulin for the treatment of severe aplastic anemia in children. Blood, 2013; 121 (5): 860-861. : http://dx.doi.org/10.1182/blood-2012-10-461509
- Yoshimi A, Strahm B, Baumann I, Furlan I, Schwarz S, Teigler-Schlegel A, Walther JU, Schlegelberger B, Göhring G, Nöllke P, Führer M, Niemeyer CM: Hematopoietic stem cell transplantation in children and young adults with secondary myelodysplastic syndrome and acute myelogenous leukemia after aplastic anemia. Biol Blood Marrow Tr, 2014; 20: 421-434.
- Yoshimi A, van den Heuvel-Eibrink MM, Baumann I, Schwarz S, Simonitsch-Klupp I, de Paepe P, Campr V, Birk Kerndrup G, O' Sullivan M, Devito R, Leguit R, Hernandez M, Dworzak M, de Moerloose B, Stary J, Hasle H, Smith OP, Zecca M, Catala A, Schmugge M, Locatelli F, Fuhrer M, Fischer A, Guderle A, Nollke P, Strahm B, Niemeyer CM: Comparison of horse and rabbit anti-thymocyte globulin in immunosuppressive therapy for refractory cytopenia of childhood. Haematologica, 2014; 99: 656-663. : http://dx.doi.org/10.3324/haematol.2013.095786
- Zabel B, Unger S, Superti-Furga A: Konstitutionelle Skeletterkrankungen. Kinder- und Jugendmedizin, 2008; 8: 428-437.
- Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD: Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet, 2006 (online).
- Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L, Superti-Furga A, Briggs MD: Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet, 2007; 15 (2): 150-154.
- Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A.: Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Clin Genet, 2005; 67 (3): 261-266.
- Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A.: Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A, 2005; 133 (1): 61-67.
- Zankl A, Pachman L, Poznanski A, Bonafe L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A: Torg Syndrome is Caused by Inactivating Mutations in MMP2 and is Allelic to NAO and Winchester Syndrome. J Bone Miner Res, 2006 (online).
- Zankl A, Pachman L, Poznanski A, Bonafé L, Wang F, Shusterman Y, Fishman DA, Superti-Furga A: Torg syndrome is caused by inactivating mutations in MMP2 and is allelic to NAO and Winchester syndrome. J Bone Miner Res, 2007; 22 (2): 329-333.
- Zankl A, Jackson GC, Crettol LM, Taylor J, Elles R, Mortier GR, Spranger J,, Zabel B, Unger S, Merrer ML, Cormier-Daire V, Hall CM, Wright MJ, Bonafe L,, Superti-Furga A, Briggs MD: Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia. Eur J Hum Genet, 2006; 15 (2): 150-154.
- Zankl A., Neumann L., Ignatius J., Nikkels P., Schrander-Stumpel C., Mortier G., Omran H., Wright M., Hilbert K., Bonafe L., Spranger J., Zabel B., Superti-Furga A.: Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies Am J Med Genet, 2005; 133: 61-67.
- Zariwala M.A., Leigh M.W., Ceppa F, Kennedy M.P., Noone PG, Carson J.L., Hazucha M.J., Lori A, Horvath J, Olbrich H, Loges N.T., Bridoux A.M., Pennarun G., Duriez B, Escudier E, Mitchison H.M., Chodhari R, Chung E.M., Morgan L.C., de Longh R.U., Rutland J, Pradal U, Omran H, Anselem S, Knowles M.R.: Mutations of DNAI1 in Primary Ciliary Dyskinesia: Evidence of Founder Effect in a Common Mutation Am J Resp Crit Care, 2006; 174: 858-866.
- Zecca M, Begamaschi G, Bergsträßer E, Danesino C, De Filippi P, Hasle H, Kratz C, Lisini D, Locatelli F, Pession A, Sainati L, Starý J, Trebo M, van den Heuvel-Eibrink M, Wójcik D, Niemeyer CM, on behalf of European Working Group on MDS in Childhood (EWOG-MDS): V617F JAK2 gene mutation is a rare event in juvenile myelomonocytic leukemia. Leukemia, 2007; 21 (2): 367-369.
- Zecca M, Bergamaschi G, Kratz C, Bergstrasser E, Danesino C, De Filippi P, Hasle H, Lisini D, Locatelli F, Pession A, Sainati L, Stary J, Trebo M, van den Heuvel-Eibrink M, Wojcik D, Niemeyer CM: JAK2 V617F mutation is a rare event in juvenile myelomonocytic leukemia. Leukemia, 2007; 21 (2): 367-369. : http://dx.doi.org/10.1038/sj.leu.2404484
- Zeitoun O, Ketelsen UP, Wolff G, Müller CR, Korinthenberg R: Rare combination of Becker muscular dystrophy and Klinefelter's syndrome in one patient Brain Dev., 1997; 19: 359-361.
- Zelmann R, Lina JM, Schulze-Bonhage A, Gotman J, Jacobs J: Scalp EEG is not a Blur: It Can See High Frequency Oscillations Although Their Generators are Small. Brain Topogr, 2014; 27 (5): 683-704. : http://dx.doi.org/10.1007/s10548-013-0321-y
- Zelmann R, Mari F, Jacobs J, Zijlmans M, Dubeau F, Gotman J: A comparison between detectors of high frequency oscillations. Clin Neurophysiol, 2012; 123 (1): 106-16. : http://dx.doi.org/10.1016/j.clinph.2011.06.006
- Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Nowak A, Rauch A, Reif S, van Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K: SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet, 2007; 44: 651-656.
- Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K: SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet, 2007; 44 (10): 651-656.
- Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet, 2006. (in Druck)
- Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K: Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations J Med Genet, 2007; 44: 131-135.
- Zent R, Bush KT, Pohl M, Quaranta V, Koshikawa N, Wang Z, Kreidberg JA, Sakurai H, Stuart RO, Nigam SK.: Involvement of laminin binding integrins and laminin-5 in branching morphogenesis of the ureteric bud during kidney development. Dev Biol, 2001; 238: 289-302.
- Zhan O., Kontny U., Iglesias M., Alamo I Jr., Yu K., Hollander MC., Woodworth CD., Fornace AJ Jr.: Inhibitory effect of Bcl-2 on p53-mediated transactivation followin genotoxic stress. Oncogene, 1999; 18(2): 297-304.
- Zhan Q, Kontny U, Iglesias M, Alamo I Jr, Yu K, Hollander MC, Woodworth CD, Fornace AJ Jr: Inhibitory effect of Bcl-2 on p53-mediated transactivation following genotoxic stress. Oncogene, 1999; 18 (2): 297-304. : http://dx.doi.org/10.1038/sj.onc.1202310
- Zheng Q, Keller B, Zhou G, Napierala D, Chen Y, Zabel B, Parker AE, Lee B.: Localization of the Cis-Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo. J Bone Miner Res, 2008. (in Druck)
- Zheng Q,, Keller B, Zhou G,, Napierala D, Chen Y, Zabel B, Parker AE, Lee B.: Localization of the Cis-Enhancer Element for Mouse Type X Collagen Expression in Hypertrophic Chondrocytes In Vivo Journal of Bone and Mineral Research, 2009; 24 (6): 1022-1032. : http://10.1359/jbmr.081249
- Zhu X, Ding Y, Lin B, Jakob A, Koppenhoefer B: Study of enantioselective interactions between chiral drugs and serum albumin by capillary electrophoresis. Electrophoresis, 1999; 20 (9): 1869-1877. : http://dx.doi.org/10.1002/(SICI)1522-2683(19990701)20:9<1869::AID-ELPS1869>3.0.CO;2-3
- Zhu X, Ding Y, Lin B, Jakob A, Koppenhoefer B: Transient state of chiral recognition in a binary mixture of cyclodextrins in capillary electrophoresis. J Chromatogr A, 2000; 888 (1-2): 241-250.
- Zhu X, Lin B, Jakob A, Wuerthner S, Koppenhoefer B: Separation of drugs by capillary electrophoresis, Part 10. Permethyl-alpha-cyclodextrin as chiral solvating agent. Electrophoresis, 1999; 20 (9): 1878-1889. : http://dx.doi.org/10.1002/(SICI)1522-2683(19990701)20:9<1878::AID-ELPS1878>3.0.CO;2-7
- Zieger B, Budde U, Jessat U, Zimmermann R, Simon M, Kätzel R, Sutor AH: New families with von Willebrandt Disease type 2M (Vicenca). Thromb Res, 1996; 87: 57-64.
- Zieger B, Budde U, Jessat U, Zimmermann R, Simon M, Kätzel R, Sutor AH: New families with von Willebrand's disease 2M (Vicenza). Thromb Res, 1997; 87: 57-64.
- Zieger B, Hashimoto J, Ware J: Alternative expression of platelet glycoprotein Ibß mRNA form an adjacent 5'Gene with an imperfect polyadenylation signal sequence. J Clin Investig, 1997; 99: 520-525.
- Zieger B, Müller H, Lohner M, Brandis M: Toxisch bedingte Hepatitis. Pädiatr Prax, 1994; 47: 49-54.
- Zieger B, Praskova M, Busse E, Barth M: A prospective randomised control study: reduction of children's pain expectation using a picture book during blood withdrawal. Klin Padiatr, 2013; 225 (3): 110-114. : http://dx.doi.org/10.1055/s-0033-1343481
- Zieger B, Praskova M, Busse E, Barth M: A prospective randomised control study: reduction of children's pain expectation using a picture book during blood withdrawal. Klin Padiatr, 2013; 225 (3): 110-114. : http://dx.doi.org/10.1055/s-0033-1343481
- Zieger B, Tran H, Hainmann I, Wunderle D, Zgaga-Griesz A, Blaser S, Ware J: Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. Gene, 2000; 261 (2): 197-203.
- Zieger B, von Monkiewitsch, Budde U, Sutor AH: Therapie des schweren FVII-Mangels bei Mitgliedern der Zeugen Jehovas. Monatsschr Kinderheilkd, 1997; 145: 1076-1079.
- Zieger B, Ware J: Cloning and Deduced Amino Acid Sequence of Human Nicotinamide Nucleotide Transhydrogenase. DNA-Sequence, 1997; 7: 369-373.
- Zieger B,, Jenny A, Tsakiris DA,, Bartsch I, Sandrock K,, Schubart C, Schäfer S,, Busse A,, Wuillemin WA.: A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype. Haemostaseologie, 2009; 29 (2): 161-167.
- Zierk J, Hirschmann J, Toddenroth D, Arzideh F, Haeckel R, Bertram A, Cario H, Fruhwald MC, Gross HJ, Groening A, Grutzner S, Gscheidmeier T, Hoff T, Hoffmann R, Klauke R, Krebs A, Lichtinghagen R, Muhlenbrock-Lenter S, Neumann M, Nollke P, Niemeyer CM, Razum O, Ruf HG, Steigerwald U, Streichert T, Torge A, Rascher W, Prokosch HU, Rauh M, Metzler M: Next-generation reference intervals for pediatric hematology. Clin Chem Lab Med, 2019; 57 (10): 1595-1607. : http://dx.doi.org/10.1515/cclm-2018-1236
- Zijlmans M, Jacobs J, Kahn YU, Zelmann R, Dubeau F, Gotman J: Ictal and interictal high frequency oscillations in patients with focal epilepsy Clin Neurophysiol, 2011; 122 (4): 664-71. : http://dx.doi.org/10.1016/j.clinph.2010.09.021
- Zimmerhackl LB: Nierentransplantation im Kindesalter. Die Kinderkrankenschwester, 1994; 13: 107-109.
- Zimmerhackl LB: Epidemiology, Pathogenesis and therapeutic modalities in hemolytic-uremic syndrome Kidney Blood Press. R., 1998; 21: 290-292.
- Zimmerhackl LB, Hentschel M, Brandis M: Aktuelle Probleme der Nephrotoxizität im Kindesalter. Der Kinderarzt, 1994; 25: 713-718.
- Zimmerhackl LB, Mesa H, Krämer F, Kölmel C, Wiegele G, Brandis M: Tubular toxicity of cyclosporin A and the influence of endothelin-1 in renal cell culture models (LLC-PK1 and MCCK). Pediatr. Nephrol., 1997; 11: 778-783.
- Zimmerhackl LB, Momm F, Wiegele G, Brandis M: Cadmium is more toxic to LLC-PK1 cells than to MDCK cells interacting with the cadherin-catenin complex. 1998; 275: F143-F153.
- Zimmerhackl LB, Rehm M, Brandis M: Tuberous sclerosis in children. Pediatric Nephrology, 1994; 8: 451-457.
- Zimmerhackl LB, Rostasy K, Wiegele G, Rasenack I, Wilhelm C, Lohner M, Brandis M, Kinne RKH: Tamm-Horsfall Proetin as marker of tubular maturation. Pediatr. Nephrol., 1996; 10: 448-452.
- Zimmerhackl LB, Verweyen H, Gerber A, Karch H, Brandis M: Das hämolytisch-urämische Syndrom. Deutsches Ärzteblatt, 2002; 99: 196-203.
- Zinkernagel RM, Ehl S, Aichele P, Oehen S, Kundig T, Hengartner H: Antigen localisation regulates immune responses in a dose- and time-dependent fashion: a geographical view of immune reactivity. Immunol Rev, 1997; 156: 199-209.
- Zinkernagel RM, Planz O, Ehl S, Battegay M, Odermatt B, Klenerman P, Hengartner H: General and specific immunosuppression caused by antiviral T-cell responses. Immunol Rev, 1999; 168: 305-315.
- Zinkernagel RM., Planz O., Ehl S., Battegay M., Odermatt B., Klenerman P., Hengartner H.: General and specific immunosuppression caused by antiviral T-cell responses. Immunol. Rev., 1999; Apr 168: 305-315.
- Ziyeh S, Berlis A, Korinthenberg R, Spreer J, Schumacher M: Selective involvement of the globus pallidus and dentate nucleus in succinic semialdehyde dehydrogenase deficiency Pediatr Radiol, 2002; 32: 598-600.
- Ziyeh S, Schumacher M, Strecker R, Rossler J, Hochmuth A, Klisch J: Head and neck vascular malformations: time-resolved MR projection angiography. Neuroradiology, 2003; 45 (10): 681-686. : http://dx.doi.org/10.1007/s00234-003-1039-4
- Ziyeh S, Spreer J, Rossler J, Strecker R, Hochmuth A, Schumacher M, Klisch J: Parkes Weber or Klippel-Trenaunay syndrome? Non-invasive diagnosis with MR projection angiography. Eur Radiol, 2004; 14 (11): 2025-2029. : http://dx.doi.org/10.1007/s00330-004-2274-8
- Zwad J, Jakob A, Gross C, Rompel R: Treatment modalities for allergic reactions in pigmented tattoos. J Dtsch Dermatol Ges, 2007; 5 (1): 8-13. : http://dx.doi.org/10.1111/j.1610-0387.2007.06168.x
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