Publications 2009

  • Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot E, Lorenz B, Preising M, Kellner U, Renner A, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C (2009) TRPM1 is mutated in patients with complete autosomal recessive congenital stationary night blindness. Am J Hum Genet 85:720-729
  • Bodenmann S, Xu S, Luhmann UFO, Arand M, Berger W, Jung H, Landolt HP (2009) Pharmacogenetics of modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clin Pharmacol Ther 85:296-304
  • Castro-Giner F, Kogevinas M, Imboden M, de Cid R, Jarvis D, Mächler M, Berger W, Burney P, Franklin KA, Gonzalez JR, Heinrich J, Janson C, Omenaas E, Pin I, Rochat T, Sunyer J, Wjst M, Antó JM, Estivill X, Probst-Hensch NM (2009) Joint effect of obesity and TNFA variability on asthma: two international cohort studies. Eur Respir J 33:1003-1009
  • Imboden M, Schwartz J, Schindler C, Curjuric I, Berger W, Liu SL, Russi EW, Ackermann-Liebrich U, Rochat T, Probst-Hensch NM (2009) Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect 117:1420-1427
  • Jamsheer A, Henggeler C, Wierzba J, Loeys B, De Paepe A, Stheneur C, Badziag N, Matuszewska K, Mátyás G, Latos-Bielenska A (2009) A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. J Appl Genet 50:405-410
  • Kloeckener-Gruissem B, Amstutz C (2009) VCAN-related vitreoretinopathy. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Available at http://www.genetests.org
  • Leroy BP, Budde B, Wittmer M, De Baere E, Berger W, Zeitz C (2009) A common NYX mutation in Flemish patients with X-linked CSNB. Brit J Ophthalmol 93:692-696
  • Macas E, Mátyás G, Reuge P, Berger W, Imthurn B (2009) Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification. Reprod Biomed Online 18:815–820
  • Magyar I, Colman D, Arnold E, Baumgartner D, Bottani A, Fokstuen S, Addor M-C, Berger W, Carrel T, Steinmann B, Mátyás G (2009) Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat 30:1355-1364
  • Niedrist D, Joncourt F, Mátyás G, Müller A (2009) Severe phenotype with cis-acting heterozygous PMP22 mutations. Clin Genet 75:286–289
  • Pilop C, Aregger F, Gorman RC, Brunisholz R, Gerrits B, Schaffner T, Gorman JH, Mátyás G, Carrel T, Frey BM (2009) Proteomic analysis in aortic media of patients with Marfan syndrome reveals increased activity of calpain 2 in aortic aneurysms. Circulation 120:983-991
  • Schäfer NF, Luhmann UF, Feil S, Berger W (2009) Differential gene expression in Ndph knockout mice in retinal development. Invest Ophthalmol Vis Sci 50:906-916
  • Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J (2009) Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA. Hum Mutat 30:255-263
  • Zeitz C, Labs S, Lorenz B, Forster U, Ueksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Said S, Fleischhauer JC, Hueffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet D, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W (2009) Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci 50:5919-5926