Publications 2007

  • Banin E, Mizrahi-Meissonnier L, Neis R, Silverstein S, Magyar I, Abeliovich D, Roepman R, Berger W, Rosenberg T, Sharon D (2007) A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa. Am J Med Genet A 143:1150-1158
  • Cremers FP, Kimberling WJ, Kulm M, de Brouwer AP, van Wijk E, Te BH, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, Webster AR, Saihan Z, De Baere E, Leroy BP, Silvestri G, McKay GJ, Koenekoop RK, Millan JM, Rosenberg T, Joensuu T, Sankila EM, Weil D, Weston MD, Wissinger B, Kremer H (2007) Development of a genotyping microarray for Usher syndrome. J Med Genet 44:153-160
  • Imboden M, Downs SH, Senn O, Matyas G, Brandli O, Russi EW, Schindler C, Ackermann-Liebrich U, Berger W, Probst-Hensch NM (2007) Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respir Res 8:2
  • Junge S, Kloeckener-Gruissem B, Zufferey R, Keisker A, Salgo B, Fauchere JC, Scherer F, Shalaby T, Grotzer M, Siler U, Seger R, Gungor T (2007) Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. Eur J Immunol 37:3270-3280
  • Matyas G, Alonso S, Patrignani A, Marti M, Arnold E, Magyar I, Henggeler C, Carrel T, Steinmann B, Berger W (2007) Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet 122:23-32
  • Neidhardt J, Glaus E, Barthelmes D, Zeitz C, Fleischhauer J, Berger W (2007) Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat 28:797-807
  • Reimann C, Kloeckener-Gruissem B, Niemeyer CM, Vanscheidt W (2007) Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. J Eur Acad Dermatol Venereol Epub ahead of print
  • Retey JV, Adam M, Khatami R, Luhmann UF, Jung HH, Berger W, Landolt HP (2007) A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clin Pharmacol Ther 81:692-698
  • Zeitz C (2007) Molecular genetics and protein function involved in nocturnal vision. Expert Rev Ophthalmol 2:467-485
  • Zeitz C, Forster U, Neidhardt J, Feil S, Kalin S, Leifert D, Flor PJ, Berger W (2007) Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat 28:771-780