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.
1134 related articles for article (PubMed ID: 25356976)
1. 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]
2. Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. Chen ZJ; Lin KH; Lee SH; Shen RJ; Feng ZK; Wang XF; Huang XF; Huang ZQ; Jin ZB Clin Exp Ophthalmol; 2020 May; 48(4):486-499. PubMed ID: 31872526 [TBL] [Abstract][Full Text] [Related]
3. Molecular genetic testing in clinical diagnostic assessments that demonstrate correlations in patients with autosomal recessive inherited retinal dystrophy. Liu X; Xiao J; Huang H; Guan L; Zhao K; Xu Q; Zhang X; Pan X; Gu S; Chen Y; Zhang J; Shen Y; Jiang H; Gao X; Kang X; Sheng X; Chen X; Zhao C JAMA Ophthalmol; 2015 Apr; 133(4):427-36. PubMed ID: 25611614 [TBL] [Abstract][Full Text] [Related]
4. A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing. Areblom M; Kjellström S; Andréasson S; Öhberg A; Gränse L; Kjellström U Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510321 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India. Sen P; Srikrupa N; Maitra P; Srilekha S; Porkodi P; Gnanasekaran H; Bhende M; Khetan V; Mathavan S; Bhende P; Ratra D; Raman R; Rao C; Sripriya S Indian J Ophthalmol; 2023 Jun; 71(6):2512-2520. PubMed ID: 37322672 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. Méndez-Vidal C; Bravo-Gil N; González-Del Pozo M; Vela-Boza A; Dopazo J; Borrego S; Antiñolo G BMC Genet; 2014 Dec; 15():143. PubMed ID: 25494902 [TBL] [Abstract][Full Text] [Related]
10. Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. Oh JK; Lima de Carvalho JR; Sun YJ; Ragi S; Yang J; Levi SR; Ryu J; Bassuk AG; Mahajan VB; Tsang SH Orphanet J Rare Dis; 2019 Dec; 14(1):295. PubMed ID: 31856884 [TBL] [Abstract][Full Text] [Related]
11. A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses. Ramkumar HL; Gudiseva HV; Kishaba KT; Suk JJ; Verma R; Tadimeti K; Thorson JA; Ayyagari R Genet Test Mol Biomarkers; 2017 Feb; 21(2):66-73. PubMed ID: 28005406 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of Sung YC; Yang CH; Yang CM; Lin CW; Huang DS; Huang YS; Hu FR; Chen PL; Chen TC Genes (Basel); 2020 Nov; 11(12):. PubMed ID: 33261146 [TBL] [Abstract][Full Text] [Related]
14. Expanding the Clinical and Molecular Heterogeneity of Nonsyndromic Inherited Retinal Dystrophies. Rodríguez-Muñoz A; Aller E; Jaijo T; González-García E; Cabrera-Peset A; Gallego-Pinazo R; Udaondo P; Salom D; García-García G; Millán JM J Mol Diagn; 2020 Apr; 22(4):532-543. PubMed ID: 32036094 [TBL] [Abstract][Full Text] [Related]
15. Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy. Bodenbender JP; Bethge L; Stingl K; Mazzola P; Haack T; Biskup S; Wissinger B; Weisschuh N; Kohl S; Kühlewein L Am J Ophthalmol; 2024 Nov; 267():213-229. PubMed ID: 38909744 [TBL] [Abstract][Full Text] [Related]
16. Genetic testing for inherited retinal degenerations: Triumphs and tribulations. Branham K; Schlegel D; Fahim AT; Jayasundera KT Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):571-577. PubMed ID: 32865341 [TBL] [Abstract][Full Text] [Related]
17. Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. Wang F; Wang H; Tuan HF; Nguyen DH; Sun V; Keser V; Bowne SJ; Sullivan LS; Luo H; Zhao L; Wang X; Zaneveld JE; Salvo JS; Siddiqui S; Mao L; Wheaton DK; Birch DG; Branham KE; Heckenlively JR; Wen C; Flagg K; Ferreyra H; Pei J; Khan A; Ren H; Wang K; Lopez I; Qamar R; Zenteno JC; Ayala-Ramirez R; Buentello-Volante B; Fu Q; Simpson DA; Li Y; Sui R; Silvestri G; Daiger SP; Koenekoop RK; Zhang K; Chen R Hum Genet; 2014 Mar; 133(3):331-45. PubMed ID: 24154662 [TBL] [Abstract][Full Text] [Related]
18. Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing. Bernardis I; Chiesi L; Tenedini E; Artuso L; Percesepe A; Artusi V; Simone ML; Manfredini R; Camparini M; Rinaldi C; Ciardella A; Graziano C; Balducci N; Tranchina A; Cavallini GM; Pietrangelo A; Marigo V; Tagliafico E Biomed Res Int; 2016; 2016():6341870. PubMed ID: 28127548 [TBL] [Abstract][Full Text] [Related]