Eyes Shut Homolog-Associated Retinal Degeneration
Author:
Publisher
Elsevier BV
Subject
Ophthalmology
Reference39 articles.
1. De oogspiegel;Van Trigt;Ned Lancet, third Ser Utr,1852
2. Non-syndromic retinitis pigmentosa;Verbakel;Prog Retin Eye Res,2018
3. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa;Collin;Am J Hum Genet,2008
4. EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa;Abd El-Aziz;Nat Genet,2008
5. Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy;Garcia-Delgado;Orphanet J Rare Dis,2021
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene;Scientific Reports;2024-08-10
2. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene;Mobile DNA;2024-05-04
3. Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene;2024-04-29
4. Genetic profile of syndromic retinitis pigmentosa in Portugal;Graefe's Archive for Clinical and Experimental Ophthalmology;2024-01-08
5. Self-reported visual function and psychosocial impact of visual loss in EYS-associated retinal degeneration in a Portuguese population;Ophthalmic Genetics;2023-03-22
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