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Gerth-Kahlert, C; Seebauer, B; Dold, S; Hanson, J V M; Wildberger, H; Spörri, A; van Waes, H; Berger, W (2015). Intra-familial phenotype variability in patients with Jalili syndrome. Eye, 29(5):712-716.

Oczos, J; Sutter, I; Kloeckener-Gruissem, B; Berger, W; Riwanto, M; Rentsch, K; Hornemann, T; von Eckardstein, A; Grimm, C (2014). Lack of paraoxonase 1 alters phospholipid composition, but not morphology and function of the mouse retina. Investigative Ophthalmology & Visual Science [IOVS], 55(8):4714-4727.

Schmid, F; Hiller, T; Korner, G; Glaus, E; Berger, W; Neidhardt, J (2013). A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs. Human Gene Therapy, 32(7):815-824.

Kloeckener-Gruissem, B; Neidhardt, J; Magyar, I; Plauchu, H; Zech, J C; Morlé, L; Palmer-Smith, S M; MacDonald, M J; Nas, V; Fry, A E; Berger, W (2013). Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome. European Journal of Human Genetics, 21(3):352-356.

Oczos, J; Grimm, C; Barthelmes, D; Sutter, F; Menghini, M; Kloeckener-Gruissem, B; Berger, W (2013). Regulatory regions of the paraoxonase 1 (PON1) gene are associated with neovascular age-related macular degeneration (AMD). Age, 35(5):1651-1662.

Bachmann, Valérie; Klein, Carina; Bodenmann, S; Schäfer, N; Berger, W; Brugger, P; Landolt, H P (2012). The BDNF Val66Met polymorphisms modulates sleep intensity: EEG frequency- and state-specificity. Sleep, 35(3):335-344.

Bachmann, V; Klaus, F; Bodenmann, S; Schäfer, N; Brugger, P; Huber, S; Berger, W; Landolt, H P (2012). Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cerebral Cortex, 22(4):962-970.

Zweifel, S A; Maygar, I; Berger, W; Tschuor, P; Becker, M; Michels, S (2012). Multimodal imaging of autosomal dominant drusen. Klinische Monatsblätter für Augenheilkunde, 229(4):399-402.

Gerbase, M W; Keidel, D; Imboden, M; Gemperli, A; Bircher, A; Schmid-Grendelmeier, P; Bridevaux, P-O; Berger, W; Schindler, C; Rochat, T; Probst-Hensch, N (2011). Effect modification of immunoglobulin E-mediated atopy and rhinitis by glutathione S-transferase genotypes in passive smokers. Clinical and Experimental Allergy, 41(11):1579-1586.

Glaus, E; Schmid, F; Da Costa, R; Berger, W; Neidhardt, J (2011). Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Molecular Therapy, 19(5):936-941.

Kloeckener-Gruissem, B; Barthelmes, D; Labs, S; Schindler, C; Kurz-Levin, M; Michels, S; Fleischhauer, J; Berger, W; Sutter, F; Menghini, M (2011). Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Investigative Ophthalmology and Visual Science, 52(7):4694-4702.

Schmid, F; Glaus, E; Barthelmes, D; Fliegauf, M; Gaspar, H; Nürnberg, G; Nürnberg, P; Omran, H; Berger, W; Neidhardt, J (2011). U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Human Mutation, 32(7):815-824.

Berger, W; Kloeckener-Gruissem, B; Neidhardt, J (2010). The molecular basis of human retinal and vitreoretinal diseases. Progress in Retinal and Eye Research, 29(5):335-375.

Poloschek, C M; Bach, M; Lagrèze, W A; Glaus, E; Lemke, J R; Berger, W; Neidhardt, J (2010). ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype. Investigative Ophthalmology and Visual Science, 51(8):4253-4265.

Hersberger, M; Thun, G A; Imboden, M; Brandstätter, A; Waechter, V; Summerer, M; Schmid-Grendelmeier, P; Bircher, A; Rohrer, L; Berger, W; Russi, E W; Rochat, T; Kronenberg, F; Probst-Hensch, N (2010). Association of STR polymorphisms in CMA1 and IL-4 with asthma and atopy: the SAPALDIA cohort. Human Immunology, 71(11):1154-1160.

Zuercher, J; Neidhardt, J; Magyar, I; Labs, S; Moore, A; Tanner, F C; Waseem, N; Schorderet, D F; Munier, F L; Bhattacharya, S; Berger, W; Kloeckener-Gruissem, B (2010). Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Investigative Ophthalmology and Visual Science, 51(7):3354-3361.

Schmid, F; Glaus, E; Kloeckener-Gruissem, B; Berger, W; Neidhardt, J (2010). Mutation- and Tissue-Specific Alterations of RPGR Transcripts. Investigative Ophthalmology and Visual Science, 51(3):1628-1635.

Brunner, S; Skosyrski, S; Kirschner-Schwabe, R; Knobeloch, K-P; Neidhardt, J; Feil, S; Glaus, E; Luhmann, U F O; Rüther, K; Berger, W (2010). Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. Investigative Ophthalmology and Visual Science, 51(2):1106-1115.

Zeitz, C; Labs, S; Lorenz, B; Forster, U; Üksti, J; Kroes, H Y; De Baere, E; Leroy, B P; Cremers, F P M; Wittmer, M; van Genderen, M M; Sahel, J A; Audo, I; Poloschek, C M; Mohand-Said, S; Fleischhauer, J C; Hüffmeier, U; Moskova-Doumanova, V; Levin, A V; Hamel, C P; Leifert, D; Munier, F L; Schorderet, D F; Zrenner, E; Friedburg, C; Wissinger, B; Kohl, S; Berger, W (2009). Genotyping Microarray for CSNB-Associated Genes. Investigative Ophthalmology and Visual Science, 12(50):5919-5926.

Audo, I; Kohl, S; Leroy, B P; Munier, F L; 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, M E; Poloschek, C M; Drumare, I; Defoort-Dhellemmes, S; Wissinger, B; Léveillard, T; Hamel, C P; Schorderet, D F; De Baere, E; Berger, W; Jacobson, S G; Zrenner, E; Sahel, J A; Bhattacharya, S S; Zeitz, C (2009). TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. American Journal of Human Genetics, 85(5):720-729.

Imboden, M; Schwartz, J; Schindler, C; Curjuric, I; Berger, W; Liu, S L; Russi, E W; Ackermann-Liebrich, U; Rochat, T; Probst-Hensch, N M (2009). Decreased PM10 exposure attenuates age-related lung function decline: genetic variants in p53, p21, and CCND1 modify this effect. Environ Health Perspect, 117(9):1420-1427.

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. Human Mutation, 30(9):1355-1364.

Leroy, B P; Budde, B; Wittmer, M; De Baere, E; Berger, W; Zeitz, C (2009). A common NYX mutation in Flemish patients with X-linked CSNB. British Journal of Ophthalmology, 93(5):692-696.

Bodenmann, S; Xu, S; Luhmann, U; Arand, M; Berger, W; Jung, H; Landolt, H P (2009). Pharmacogenetics of Modafinil after sleep loss: Catechol-O-methyltransferase genotype modulates waking functions but not recovery sleep. Clinical Pharmacology and Therapeutics, 85(3):296-304.

Macas, E; Matyas, G; Reuge, P; Berger, W; Imthurn, B (2009). Polar body biopsy for Curschmann–Steinert disease and successful pregnancy following embryo vitrification. Reproductive BioMedicine Online, 18(6):815-820.

Schäfer, N F; Luhmann, U F O; Feil, S; Berger, W (2009). Differential gene expression in Ndph knockout mice in retinal development. Investigative Ophthalmology and Visual Science, 50(2):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. Human Mutation, 30(2):255-263.

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; Sapaldia, Team (2008). SERPINA1 gene variants in individuals from the general population with reduced alpha1-antitrypsin concentrations. Clinical Chemistry, 54(8):1331-1338.

Senn, O; Russi, E W; Schindler, C; Imboden, M; von Eckardstein, A; Brändli, O; Zemp, E; Ackermann-Liebrich, U; Berger, W; Rochat, T; Luisetti, M; Probst-Hensch, N M (2008). Circulating alpha1-antitrypsin in the general population: determinants and association with lung function. Respiratory Research, 9:35.

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.

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.

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.

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.

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.

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.

Neidhardt, J; Glaus, E; Barthelmes, D; Zeitz, C; Fleischhauer, J; Berger, W (2007). Identification and characterization of a novel RPGR isoform in human retina. Human Mutation, 28(8):797-807.

Mátyás, 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. Human Genetics, 122(1):23-32.

Rétey, J V; Adam, M; Khatami, R; Luhmann, U F O; Jung, H H; Berger, W; Landolt, H P (2007). A genetic variation in the adenosine A2A receptor gene (ADORA2A) contributes to individual sensitivity to caffeine effects on sleep. Clinical Pharmacology and Therapeutics, 81(5):692-698.

Zeitz, C; Forster, U; Neidhardt, J; Feil, S; Kälin, S; Leifert, D; Flor, P J; 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. Human Mutation, 28(8):771-80.

Imboden, M; Downs, S H; Senn, O; Matyas, G; Brändli, O; Russi, E W; Schindler, C; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2007). Glutathione S-transferase genotypes modify lung function decline in the general population: SAPALDIA cohort study. Respiratory Research, 8:2.

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. American Journal of Medical Genetics. Part A, 143A(11):1150-1158.

Cremers, F P M; et al; Fleischhauer, J C; Berger, W (2007). Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics, 44(2):153-60.

Bahadori, R; Biehlmaier, O; Zeitz, C; Labhart, T; Makhankov, Y V; Forster, U; Gesemann, M; Berger, W; Neuhauss, S C F (2006). Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina. European Journal of Neuroscience, 24(6):1664-1674.

Bartholdi, D; Klein, A; Weissert, M; Koenig, N; Baumer, A; Boltshauser, E; Schinzel, A; Berger, W; Mátyás, G (2006). Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clinical Genetics, 69(4):319-326.

Imboden, M; Nieters, A; Bircher, Aj; Brutsche, M; Becker, N; Wjst, M; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M; Sapaldia Team (2006). Cytokine gene polymorphisms and atopic disease in two European cohorts. (ECRHS-Basel and SAPALDIA). Clinical and Molecular Allergy : CMA, 4:9.

Kurz, D J; Kloeckener-Gruissem, B; Akhmedov, A; Eberli, F R; Bühler, I; Berger, W; Bertel, O; Lüscher, T F (2006). Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arteriosclerosis, Thrombosis, and Vascular Biology, 26(6):e114-e117.

Neidhardt, J; Barthelmes, D; Farahmand, F; Fleischhauer, J C; Berger, W (2006). Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes. Investigative Ophthalmology and Visual Science, 47(4):1630-1635.

Matyas, G; Arnold, E; Carrel, T; Baumgartner, D; Boileau, C; Berger, W; Steinmann, B (2006). Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. Human Mutation, 27(8):760-769.

Kloeckener-Gruissem, B; Bartholdi, D; Abdou, M T; Zimmermann, D R; Berger, W (2006). Identification of the genetic defect in the original Wagner syndrome family. Molecular Vision, (12):350-355.

Wycisk, K A; Zeitz, C; Feil, S; Wittmer, M; Forster, U; Neidhardt, J; Wissinger, B; Zrenner, E; Wilke, R; Kohl, S; Berger, W (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5):973-977.

Zeitz, C; et al; Berger, W (2006). Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. American Journal of Human Genetics, 79(4):657-667.

Wycisk, K A; Budde, B; Feil, S; et al; Buzzi, F; Neidhardt, J; Glaus, E; Nürnberg, P; Berger, W (2006). Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Investigative Ophthalmology and Visual Science, 47(8):3523-3530.

Imboden, M; Nicod, L; Nieters, A; Glaus, E; Matyas, G; Bircher, A J; Ackermann-Liebrich, U; Berger, W; Probst-Hensch, N M (2006). The common G-allele of interleukin-18 single-nucleotide polymorphism is a genetic risk factor for atopic asthma. The SAPALDIA Cohort Study. Clinical and Experimental Allergy, 36(2):211-8.

Wollmann, G; et al; Berger, W (2006). Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease mice. Vision Research, 46(5):688-698.

This list was generated on Wed Dec 13 18:02:16 2017 CET.