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Number of items: 19.

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.

Weemaes, C M R; van Tol, A; Wang, J; van Ostajen-ten Dam, M M; van Eggermond, M C J M; Thijssen, P; Aytekin, C; Brunetti-Pierri, N; van der Burg, M; Davies, E G; Ferster, A; Furthner, D; Gimelli, G; Gennery, A; Kloeckener-Gruissem, B; Meyn, S; Powell, C; Reisli, I; Schuetz, C; Schulz, A; Shugar, A; van den Elsen, P J; van der Maarel, S M (2013). Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. European Journal of Human Genetics, 208(7):1102-1112.

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.

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.

Castorino, J J; Gallagher-Colombo, S M; Levin, A V; Fitzgerald, P G; Polishook, J; Kloeckener-Gruissem, B; Ostertag, E; Philp, N J (2011). Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Investigative Ophthalmology and Visual Science, 52(9):6774-6784.

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.

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.

Kloeckener-Gruissem, B; Amstutz, C (2009). VCAN-Related Vitreoretinopathy. GeneReviews.

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.

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.

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.

Junge, S; Kloeckener-Gruissem, B; Zufferey, R; Keisker, A; Salgo, B; Fauchere, J C; Scherer, F; Shalaby, T; Grotzer, M; Siler, U; Seger, R; Güngör, T (2007). Correlation between recent thymic emigrants and CD31+ (PECAM-1) CD4+ T cells in normal individuals during aging and in lymphopenic children. European Journal of Immunology, 37(11):3270-3280.

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.

Biebinger, R; Arnold, M; Koss, M; Kloeckener-Gruissem, B; Langhans, W; Hurrell, R F; Zimmermann, M B (2006). Effect of concurrent vitamin A and iodine deficiencies on the thyroid-pituitary axis in rats. Thyroid, 16(10):961-965.

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.

This list was generated on Thu Nov 23 05:11:01 2017 CET.