Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Retinitis Pigmentosa and CEP290[original query] |
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Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa. Molecular vision 2007 13 2160-2. Vallespin Elena, Lopez-Martinez Miguel-Angel, Cantalapiedra Diego, Riveiro-Alvarez Rosa, Aguirre-Lamban Jana, Avila-Fernandez Almudena, Villaverde Cristina, Trujillo-Tiebas Maria-Jose, Ayuso Carm |
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology 2010 1 117 (6): 1190-8. Walia Saloni, Fishman Gerald A, Jacobson Samuel G, Aleman Tomas S, Koenekoop Robert K, Traboulsi Elias I, Weleber Richard G, Pennesi Mark E, Heon Elise, Drack Arlene, Lam Byron L, Allikmets Rando, Stone Edwin |
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. PloS one 2011 6 (8): e23021. Fahim Abigail T, Bowne Sara J, Sullivan Lori S, Webb Kaylie D, Williams Jessica T, Wheaton Dianna K, Birch David G, Daiger Stephen |
Mutation analysis of Leber congenital amaurosis-associated genes in patients with retinitis pigmentosa. Molecular medicine reports 2015 Mar 11 (3): 1827-32. Shen Tao, Guan Liping, Li Shiqiang, Zhang Jianguo, Xiao Xueshan, Jiang Hui, Yang Jianhua, Guo Xiangming, Wang Jun, Zhang Qingjio |
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
Relative frequency of inherited retinal dystrophies in Brazil. Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study. American journal of ophthalmology 2019 11 211 142-150. Feldhaus Britta, Weisschuh Nicole, Nasser Fadi, den Hollander Anneke I, Cremers Frans P M, Zrenner Eberhart, Kohl Susanne, Zobor Dit |
Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. American journal of ophthalmology 2022 12 248 96-106. Zhu Tian, Shen Yue, Sun Zixi, Han Xiaoxu, Wei Xing, Li Wuyi, Lu Chao, Cheng Tingting, Zou Xuan, Li Hui, Cao Zongfu, Gao Huafang, Ma Xu, Luo Minna, Sui Ruifa |
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- Page last updated:May 06, 2024
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