These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
8. Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort. Zobor D; Brühwiler B; Zrenner E; Weisschuh N; Kohl S Int J Mol Sci; 2023 May; 24(10):. PubMed ID: 37240262 [TBL] [Abstract][Full Text] [Related]
9. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Coppieters F; Todeschini AL; Fujimaki T; Baert A; De Bruyne M; Van Cauwenbergh C; Verdin H; Bauwens M; Ongenaert M; Kondo M; Meire F; Murakami A; Veitia RA; Leroy BP; De Baere E Hum Mutat; 2015 Dec; 36(12):1188-96. PubMed ID: 26316326 [TBL] [Abstract][Full Text] [Related]
10. A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing. Deng Y; Huang H; Wang Y; Liu Z; Li N; Chen Y; Li X; Li M; Zhou X; Mu D; Zhong J; Wu J; Su Y; Yi X; Zhu J Gene; 2015 Sep; 569(1):104-8. PubMed ID: 25988908 [TBL] [Abstract][Full Text] [Related]
11. NMNAT1 mutations cause Leber congenital amaurosis. Falk MJ; Zhang Q; Nakamaru-Ogiso E; Kannabiran C; Fonseca-Kelly Z; Chakarova C; Audo I; Mackay DS; Zeitz C; Borman AD; Staniszewska M; Shukla R; Palavalli L; Mohand-Said S; Waseem NH; Jalali S; Perin JC; Place E; Ostrovsky J; Xiao R; Bhattacharya SS; Consugar M; Webster AR; Sahel JA; Moore AT; Berson EL; Liu Q; Gai X; Pierce EA Nat Genet; 2012 Sep; 44(9):1040-5. PubMed ID: 22842227 [TBL] [Abstract][Full Text] [Related]
19. Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing. Hosono K; Nishina S; Yokoi T; Katagiri S; Saitsu H; Kurata K; Miyamichi D; Hikoya A; Mizobuchi K; Nakano T; Minoshima S; Fukami M; Kondo H; Sato M; Hayashi T; Azuma N; Hotta Y Sci Rep; 2018 May; 8(1):8279. PubMed ID: 29844330 [TBL] [Abstract][Full Text] [Related]
20. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. Xu K; Xie Y; Sun T; Zhang X; Chen C; Li Y Br J Ophthalmol; 2020 Jul; 104(7):932-937. PubMed ID: 31630094 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]