Publications 2008

  • Brunner S, Colman D, Travis AJ, Luhmann UF, Shi W, Feil S, Imsand C, Nelson J, Grimm C, Rülicke T, Fundele R, Neidhardt J, Berger W (2008) Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. Biol Reprod 79:608-617
  • Castro-Giner F, Kogevinas M, Machler M, de Cid R, Steen KV, Imboden M, Schindler C, Berger W, Gonzalez JR, Franklin KA, Janson C, Jarvis D, Omenaas E, Burney P, Rochat T, Estivill X, Anto JM, Wjst M, Probst-Hensch NM (2008) TNFA-308 in two international population-based cohorts shows increased risk for asthma. Eur Respir J 32:350-361
  • Dundar M, Erkiliç K, Argun M, Caglayan AO, Comeglio P, Koseoglu E, Mátyás G, Child AH (2008) Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome? Genet Couns 19:319-330
  • Fröhlich BA, Zeitz C, Mátyás G, Alkadhi H, Tuor C, Berger W, Russi WE (2008) Novel mutations in the folliculin (FLCN) gene associated with spontaneous pneumothorax. Eur Respir J 32:1316-1320
  • Imboden M, Rochat T, Brutsche M, Schindler C, Downs SH, Gerbase MW, Berger W, Probst-Hensch NM (2008) Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax 63:322-328
  • Kloeckener-Gruissem B, Vandekerckhove K, Nurnberg G, Neidhardt J, Zeitz C, Nurnberg P, Schipper I, Berger W (2008) Mutation of the solute carrier SLC16A12 associates with a syndrome combining autosomal dominant juvenile cataract with microcornea and glucosuria. Am J Hum Genet 82:772-779
  • Luhmann UF, Neidhardt J, Kloeckener-Gruissem B, Schaefer NF, Glaus E, Feil S, Berger W (2008) Vascular changes in the cerebellum of Norrin/Ndph knockout mice correlate with high expression of Norrin and Frizzled-4. Eur J Neurosci 27:2619-2628
  • Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FPM, Bergen AAB, Barthelmes D, Baraki H, Schmid F, Tanner G, Fleischhauer J, Orth U, Becker C, Wegscheider E, Nurnberg G, Nurnberg P, Bolz HJ, Gal A, Berger W (2008) Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Mol Vis 14:1081-1093
  • Poloschek CM, Kloeckener-Gruissem B, Hansen LL, Bach M, Berger W (2008) Syndromic choroideremia - sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome (MPDMRS). Invest Ophthalmol Vis Sci 49:4096-4104
  • Probst-Hensch NM, Imboden M, Felber DD, Barthelemy JC, Ackermann-Liebrich U, Berger W, Gaspoz JM, Schwartz J (2008) Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environ Health Perspect 116:1494-1499
  • Senn O, Russi EW, Schindler C, Imboden M, von Eckardstein A, Brandli O, Zemp E, Ackermann-Liebrich U, Berger W, Rochat T, Luisetti M, Probst-Hensch NM (2008) Circulating alpha1-antitrypsin in the general population: Determinants and association with lung function. Respir Res 9:35
  • Zeitz C, Gross AK, Leifert D, Kloeckener-Gruissem B, McAlear SD, Lemke J, Neidhardt J, Berger W (2008) Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Invest Ophthalmol Vis Sci 49:4105-4114
  • Zorzetto M, Russi E, Senn O, Imboden M, Ferrarotti I, Tinelli C, Campo I, Ottaviani S, Scabini R, von Eckardstein A, Berger W, Brandli O, Rochat T, Luisetti M, Probst-Hensch N (2008) SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clin Chem 54:1331-1338