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Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Kuehlewein L, Zobor D, Andreasson SO, Ayuso C, Banfi S, Bocquet B, Bernd AS, Biskup S, Boon CJF, Downes SM, Fischer MD, Holz FG, Kellner U, Leroy BP, Meunier I, Nasser F, Rosenberg T, Rudolph G, Stingl K, Thiadens AAHJ, Wilhelm B, Wissinger B, Zrenner E, Kohl S, Weisschuh N; RD-CURE Consortium. Kuehlewein L, et al. Among authors: kellner u. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.
Selective cone dystrophy with protan genotype.
Kellner U, Sadowski B, Zrenner E, Foerster MH. Kellner U, et al. Invest Ophthalmol Vis Sci. 1995 Nov;36(12):2381-7. Invest Ophthalmol Vis Sci. 1995. PMID: 7591627
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Among authors: kellner u. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112
EFEMP1 is not associated with sporadic early onset drusen.
Sauer CG, White K, Kellner U, Rudolph G, Jurklies B, Pauleikhoff D, Weber BH. Sauer CG, et al. Among authors: kellner u. Ophthalmic Genet. 2001 Mar;22(1):27-34. doi: 10.1076/opge.22.1.27.2239. Ophthalmic Genet. 2001. PMID: 11262647
274 results