All publications

ZORA Publication List

Publications

• 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. Human Mutation, 30(2):255-263.
• Jamsheer, A; Henggeler, C; Wierzba, J; Loeys, B; De Paepe, A; Stheneur, C H; Badziag, B; 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. Journal of Applied Genetics, 50(4):405-410.
• Castro-Giner, F; et al; Kogevinas, M; Imboden, M (2009). Joint effect of obesity and TNFA variability on asthma: two international cohort studies. European Respiratory Journal, 33(5):1003-1009.
• Fröhlich, B A; Zeitz, C; Mátyás, G; Alkadhi, H; Tuor, C; Berger, W; Russi, E W (2008). Novel mutations in the folliculin gene associated with spontaneous pneumothorax. European Respiratory Journal, 32(5):1316-1320.
• Berger, W (2008). Mouse models of norrie disease. In: Chalupa, L M; Williams, R W. Eye, Retina, and Visual System of the Mouse. Cumberland: Harvard University Press, 527-537.
• Zorzetto, M; Russi, E; Senn, O; Imboden, M; Ferrarotti, I; Tinelli, C; Campo, I; Ottaviani, S; Scabini, R; von Eckardstein, A; Berger, W; Brändli, O; Rochat, T; Luisetti, M; Probst-Hensch, N (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.
• Reimann, C; Kloeckener-Gruissem, B; Niemeyer, C M; Vanscheidt, W (2008). Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. Journal of the European Academy of Dermatology and Venereology, 22(7):897-898.
• Senn, Oliver; Russi, Erich W; Schindler, Christian; Imboden, Medea; von Eckardstein, Arnold; Brändli, Otto; Zemp, Elisabeth; Ackermann-Liebrich, Ursula; Berger, Wolfgang; Rochat, Thierry; Luisetti, Maurizio; Probst-Hensch, Nicole M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.
• Probst-Hensch, N M; Imboden, M; Felber Dietrich, D; Barthélémy, Jean Claude; Ackermann-Liebrich, U; Berger, W; Gaspoz, Jean-Michel; Schwartz, J (2008). Glutathione S-transferase polymorphisms, passive smoking, obesity, and heart rate variability in nonsmokers. Environmental Health Perspectives, 116(11):1494-1499.
• Castro-Giner, F; et al; Kogevinas, M; Imboden, M (2008). TNFA -308G>A in two international population-based cohorts and risk of asthma. European Respiratory Journal, 32(2):350-361.
• Matyas, G. Molecular bases of Marfan syndrome and related disorders. 2008, University of Zurich, Medizinische Fakultät.
• Brunner, S. Functional analysis of the Retinitis pigmentosa GTPase regulator(RPGR) gene. 2008, University of Zurich, Faculty of Medicine.
• Neidhardt, J; et al; Glaus, E; Lorenz, B (2008). Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular Vision, 14:1081-1093.
• Zeitz, C; Gross, A K; Leifert, D; Kloeckener-Gruissem, B; McAlear, S D; Lemke, J; Neidhardt, G; Berger, W (2008). Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB. Investigative Ophthalmology and Visual Science, 49(9):4105-4114.
• Poloschek, C M; Kloeckener-Gruissem, B; Hansen, L L; Bach, M; Berger, W (2008). Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome. Investigative Ophthalmology and Visual Science, 49(9):4096-104.
• Luhmann, U F O; Neidhardt, J; Kloeckener-Gruissem, B; Schäfer, N F; 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. European Journal of Neuroscience, 27(10):2619-2628.
• Kloeckener-Gruissem, B; Vandekerckhove, K; Nürnberg, G; Neidhardt, J; Zeitz, C; Nürnberg, P; Schipper, I; Berger, W (2008). Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. American Journal of Human Genetics, 82(3):772-779.
• Imboden, M; Rochat, T; Brutsche, M; Schindler, C; Downs, S H; Gerbase, M W; Berger, W; Probst-Hensch, N M (2008). Glutathione S-transferase genotype increases risk of progression from bronchial hyperresponsiveness to asthma in adults. Thorax, 63(4):322-8.
• Dundar, M; Erkilic, K; Argun, M; Caglayan, A O; Comeglio, P; Koseoglu, E; Matyas, G; Child, A H (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: Is it a new syndrome?. Genetic Counseling, 19(3):319-330.
• Brunner, S; Colman, D; Travis, A J; Luhmann, U F O; 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. Biology of Reproduction, 79:608-617.

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