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.
230 related articles for article (PubMed ID: 37047703)
1. New Insight into the Genotype-Phenotype Correlation of Wang Y; Wang J; Jiang Y; Zhu D; Ouyang J; Yi Z; Li S; Jia X; Xiao X; Sun W; Wang P; Zhang Q Int J Mol Sci; 2023 Apr; 24(7):. PubMed ID: 37047703 [TBL] [Abstract][Full Text] [Related]
10. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133 [TBL] [Abstract][Full Text] [Related]
11. Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing. Lin TY; Chang YC; Hsiao YJ; Chien Y; Jheng YC; Wu JR; Ching LJ; Hwang DK; Hsu CC; Lin TC; Chou YB; Huang YM; Chen SJ; Yang YP; Tsai PH Int J Mol Sci; 2021 May; 22(11):. PubMed ID: 34070492 [TBL] [Abstract][Full Text] [Related]
12. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene. Zhu T; Shen Y; Sun Z; Han X; Wei X; Li W; Lu C; Cheng T; Zou X; Li H; Cao Z; Gao H; Ma X; Luo M; Sui R Am J Ophthalmol; 2023 Apr; 248():96-106. PubMed ID: 36493848 [TBL] [Abstract][Full Text] [Related]
13. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers. Shankar SP; Hughbanks-Wheaton DK; Birch DG; Sullivan LS; Conneely KN; Bowne SJ; Stone EM; Daiger SP Invest Ophthalmol Vis Sci; 2016 Feb; 57(2):349-59. PubMed ID: 26842753 [TBL] [Abstract][Full Text] [Related]
14. Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort. Smirnov VM; Nassisi M; Solis Hernandez C; Méjécase C; El Shamieh S; Condroyer C; Antonio A; Meunier I; Andrieu C; Defoort-Dhellemmes S; Mohand-Said S; Sahel JA; Audo I; Zeitz C JAMA Ophthalmol; 2021 Mar; 139(3):278-291. PubMed ID: 33507216 [TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. Huang XF; Huang F; Wu KC; Wu J; Chen J; Pang CP; Lu F; Qu J; Jin ZB Genet Med; 2015 Apr; 17(4):271-8. PubMed ID: 25356976 [TBL] [Abstract][Full Text] [Related]
16. Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants. Luo H; Xiao X; Li S; Sun W; Yi Z; Wang P; Zhang Q Exp Eye Res; 2021 Feb; 203():108405. PubMed ID: 33347869 [TBL] [Abstract][Full Text] [Related]
17. Expanding the retinal phenotype of Riera M; Abad-Morales V; Navarro R; Ruiz-Nogales S; Méndez-Vendrell P; Corcostegui B; Pomares E Br J Ophthalmol; 2020 Feb; 104(2):173-181. PubMed ID: 31079053 [TBL] [Abstract][Full Text] [Related]
18. Genotype-phenotype associations in a large PRPH2-related retinopathy cohort. Reeves MJ; Goetz KE; Guan B; Ullah E; Blain D; Zein WM; Tumminia SJ; Hufnagel RB Hum Mutat; 2020 Sep; 41(9):1528-1539. PubMed ID: 32531846 [TBL] [Abstract][Full Text] [Related]
19. Variants in Yang J; Xiao X; Sun W; Li S; Jia X; Zhang Q Curr Eye Res; 2021 Jun; 46(6):839-844. PubMed ID: 33104391 [TBL] [Abstract][Full Text] [Related]
20. RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients. Lopez-Rodriguez R; Lantero E; Blanco-Kelly F; Avila-Fernandez A; Martin Merida I; Del Pozo-Valero M; Perea-Romero I; Zurita O; Jiménez-Rolando B; Swafiri ST; Riveiro-Alvarez R; Trujillo-Tiebas MJ; Carreño Salas E; García-Sandoval B; Corton M; Ayuso C Exp Eye Res; 2021 Nov; 212():108761. PubMed ID: 34492281 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]