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FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
Kuehlewein L, Nasser F, Gloeckle N, Kohl S, Zrenner E. Kuehlewein L, et al. Among authors: zrenner e. Retin Cases Brief Rep. 2017 Winter;11 Suppl 1:S73-S76. doi: 10.1097/ICB.0000000000000420. Retin Cases Brief Rep. 2017. PMID: 27627638
A case of X-linked retinoschisis with atypical fundus appearance.
Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E. Nasser F, et al. Among authors: zrenner e. Doc Ophthalmol. 2019 Aug;139(1):75-81. doi: 10.1007/s10633-019-09698-3. Epub 2019 Apr 20. Doc Ophthalmol. 2019. PMID: 31006083
Rod and cone function in patients with KCNV2 retinopathy.
Zobor D, Kohl S, Wissinger B, Zrenner E, Jägle H. Zobor D, et al. Among authors: zrenner e. PLoS One. 2012;7(10):e46762. doi: 10.1371/journal.pone.0046762. Epub 2012 Oct 15. PLoS One. 2012. PMID: 23077521 Free PMC article.
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: zrenner e. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
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: zrenner e. JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250. doi: 10.1001/jamaophthalmol.2020.4206. JAMA Ophthalmol. 2020. PMID: 33057649 Free PMC article.
568 results