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Institut für Medizinische Molekulargenetik

Publications 2005

  • Baumgartner C, Matyas G, Steinmann B, Baumgartner D (2005) Marfan syndrome: A diagnostic challenge caused by phenotypic and genetic heterogeneity. Methods Inf Med 44:487-497
  • Baumgartner D, Baumgartner C, Matyas G, Steinmann B, Loffler-Ragg J, Schermer E, Schweigmann U, Baldissera I, Frischhut B, Hess J, Hammerer I (2005) Diagnostic power of aortic elastic properties in young patients with Marfan syndrome. J Thorac Cardiovasc Surg 129:730-739
  • Hsieh M, Boerboom D, Shimada M, Lo Y, Parlow AF, Luhmann UF, Berger W, Richards JS (2005) Mice null for Frizzled4 (Fzd4-/-) are infertile and exhibit impaired corpora lutea formation and function. Biol Reprod 73:1135-1146
  • Kloeckener-Gruissem B, Betts DR, Zankl A, Berger W, Gungor T (2005) A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9. Am J Med Genet A 136:31-37
  • Luhmann UF, Meunier D, Shi W, Luttges A, Pfarrer C, Fundele R, Berger W (2005) Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. Genesis 42:253-262
  • Luhmann UF, Lin J, Acar N, Lammel S, Feil S, Grimm C, Seeliger MW, Hammes HP, Berger W (2005) Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest Ophthalmol Vis Sci 46:3372-3382
  • Neidhardt J, Wycisk K, Klockener-Gruissem B (2005) [Viral and nonviral gene therapy for treatment of retinal diseases]. Ophthalmologe 102:764-771
  • Ohlmann A, Scholz M, Goldwich A, Chauhan BK, Hudl K, Ohlmann AV, Zrenner E, Berger W, Cvekl A, Seeliger MW, Tamm ER (2005) Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. J Neurosci 25:1701-1710
  • Retey JV, Adam M, Honegger E, Khatami R, Luhmann UF, Jung HH, Berger W, Landolt HP (2005) A functional genetic variation of adenosine deaminase affects the duration and intensity of deep sleep in humans. Proc Natl Acad Sci U S A 102:15676-15681
  • Seeliger MW, Beck SC, Pereyra-Munoz N, Dangel S, Tsai JY, Luhmann UF, van de Pavert SA, Wijnholds J, Samardzija M, Wenzel A, Zrenner E, Narfstrom K, Fahl E, Tanimoto N, Acar N, Tonagel F (2005) In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy. Vision Res 45:3512-3519
  • Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Matyas G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W (2005) Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci 46:4328-4335
  • Zeitz C, Minotti R, Feil S, Matyas G, Cremers FP, Hoyng CB, Berger W (2005) Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol Vis 11:179-183

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