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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.
- 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.
- 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).
- 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).
- Bächle B, Brüstle S, Kruse S: Mehr als die übliche Müdigkeit? Die Schwester Der Pfleger, 2005; 44: 98-102.
- 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.
- 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.
- 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
- 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.
- 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
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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, 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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, 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
- Hentschel R: Die Bedeutung des Geburtsgewichtes und der Schwangerschaftsdauer in der modernen Neonatologie. Geburtsh Frauenheilk, 2005; 65: 272-278.
- Hermanns-Clausen M, Sydow A, Desel H: Klinische Symptomatik von Metoprololüberdosierungen in Abhängigkeit von der eingenommenen Dosis Intensivmedizin und Notfallmedizin, 2005; 42: 47-52.
- 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.
- 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)
- Hoppe B, Latta K, von Schnakenburg C, Kemper MJ: Primary hyperoxaluria--the German experience. Am J Nephrol, 2005; 25 (3): 276-281.
- 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.
- 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.
- 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.
- 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,, 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.
- 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
- 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.
- 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, 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 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.
- 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.
- 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).
- 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.
- Korinthenberg R: Epilepsien mit primär generalisierten tonisch-klonischen Anfällen bei Jugendlichen und Erwachsenen Zeitschrift für Epileptologie, 2005; 18: 7-14.
- 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.
- 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 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, 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
- 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.
- 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 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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, 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
- 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.
- 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.
- 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.
- 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
- 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.
- 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, Hasle H: Pediatric myelodysplastic syndromes. Curr Treat Options Oncol, 2005; 6 (3): 209-214.
- 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.
- 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.
- 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.
- 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
- 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.
- 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.
- 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-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.
- 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.
- 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
- 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, Salfeld P, Niemeyer CM: Diagnostik und Therapie von Gefäßfehlbildungen. Monatsschr Kinderh, 2005; 153: 364-372.
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