Zobrazeno 1 - 10 of 262 pro vyhledávání: '"Df Schorderet"'
1
Optic disc hamartomas in a family with heterozygous mutation in the VMD2 gene: Clinical, diagnostic and molecular genetic findings
Autor: Df Schorderet, M. G. Todorova, Christophe Valmaggia
Publikováno v: Acta Ophthalmologica. 91
Purpose To report a new form of juvenile-onset Best disease associated with optic disc deposits and autosomal dominant inheritance in a three-generation family. Methods Five affected individuals aged from 5 to 76 years were assessed. Detailed ophthal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::90014848b75b62d19eb6a5b6c5781607
https://doi.org/10.1111/j.1755-3768.2013.1665.x
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3
Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5
Autor: Cottet S, Rene Jüttner, Voirol N, Chambon P, Fg, Rathjen, Df, Schorderet, Escher P
Publikováno v: Europe PubMed Central
Molecular Vision, vol. 19, pp. 2312-2320
Molecular Vision
PURPOSE: To analyze in vivo the function of chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C (gene symbol: Cspg5) during retinal degeneration in the Rpe65⁻/⁻ mouse model of Leber congenital am
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b0e554db11f3ae1e0ed56318d61a6195
http://europepmc.org/abstract/med/24265546
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5
Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice
Autor: Bustamante M, Tasinato A, Maurer F, Elkochairi I, Mg, Lepore, Yvan Arsenijevic, Pedrazzini T, Fl, Munier, Df, Schorderet
Publikováno v: Europe PubMed Central
Molecular Vision, vol. 14, pp. 1129-1137
Molecular Vision
PURPOSE: Despite ubiquitous expression of the keratoepithelin (KE) protein encoded by the transforming growth factor beta induced/beta induced gene human clone 3 (TGFBI/BIGH3) gene, corneal dystrophies are restricted to the cornea, and no other tissu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0c225e3dcfba059127ff9dbe1cfad1ff
https://infoscience.epfl.ch/record/160774
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8
Akademický článek
Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.
Autor: Conti GM; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland, giovanni.marco.conti@gmail.com.; Institut d'ophtalmologie de Vevey (INOV), Vevey, Switzerland, giovanni.marco.conti@gmail.com., Vaclavik V; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland., Rivolta C; Department, Institute of Molecular and Clinical Ophthalmology Basel (IOB), University of Basel, Basel, Switzerland., Escher P; Department of Ophthalmology, Inselspital, Bern University Hospital and Department of BioMedical Research, University of Bern, Bern, Switzerland., Schorderet DF; Faculty of Biology and Medicine, University of Lausanne and School of Life Sciences, Ecole polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland., Munier FL; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland., Tran HV; Genetic Ophthalmic Department, Hôpital Ophtalmique Jules-Gonin, University of Lausanne and Faculty of Life Sciences, Lausanne, Switzerland.; Institut d'ophtalmologie de Vevey (INOV), Vevey, Switzerland.; Centre for Gene Therapy and Regenerative Medicine, King's College London, London, UK.
Publikováno v: Ophthalmic research [Ophthalmic Res] 2024; Vol. 67 (1), pp. 172-182. Date of Electronic Publication: 2023 Dec 29.
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9
Akademický článek
Analysis of Suspected Achromatopsia by Multimodal Diagnostic Testing.
Autor: Kugler SA; Department of Ophthalmology, Cantonal Hospital St. Gallen, Switzerland., Valmaggia C; Department of Ophthalmology, Cantonal Hospital St. Gallen, Switzerland.; Department of Ophthalmology, University of Zürich, Switzerland., Sturm V; Department of Ophthalmology, University of Zürich, Switzerland.; Ophthalmology, Eye Center Rosengarten, Arbon, Switzerland., Schorderet DF; Faculty of Biology and Medicine, University of Lausanne and Faculty of Life Sciences, École polytechnique fédérale de Lausanne, Switzerland., Todorova MG; Department of Ophthalmology, Cantonal Hospital St. Gallen, Switzerland.; Department of Ophthalmology, University of Zürich, Switzerland.; Department of Ophthalmology, University Hospital Basel, Switzerland.
Publikováno v: Klinische Monatsblatter fur Augenheilkunde [Klin Monbl Augenheilkd] 2023 Oct; Vol. 240 (10), pp. 1158-1173. Date of Electronic Publication: 2023 Sep 15.
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10
Akademický článek
Incomplete Recovery of Zebrafish Retina Following Cryoinjury.
Autor: Džulová D; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Lawless D; Global Health Institute, School of Life Sciences, École Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland., Pinton GG; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Renner NA; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Schorderet DF; Institute for Research in Ophthalmology, 1950 Sion, Switzerland.; Global Health Institute, School of Life Sciences, École Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland.; Faculty of Biology and Medicine, University of Lausanne, 1015 Lausanne, Switzerland.
Publikováno v: Cells [Cells] 2022 Apr 18; Vol. 11 (8). Date of Electronic Publication: 2022 Apr 18.
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