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.
310 related articles for article (PubMed ID: 32423767)
1. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom. Pontikos N; Arno G; Jurkute N; Schiff E; Ba-Abbad R; Malka S; Gimenez A; Georgiou M; Wright G; Armengol M; Knight H; Katz M; Moosajee M; Yu-Wai-Man P; Moore AT; Michaelides M; Webster AR; Mahroo OA Ophthalmology; 2020 Oct; 127(10):1384-1394. PubMed ID: 32423767 [TBL] [Abstract][Full Text] [Related]
2. Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort. Lin S; Vermeirsch S; Pontikos N; Martin-Gutierrez MP; Daich Varela M; Malka S; Schiff E; Knight H; Wright G; Jurkute N; Simcoe MJ; Yu-Wai-Man P; Moosajee M; Michaelides M; Mahroo OA; Webster AR; Arno G Ophthalmol Retina; 2024 Jul; 8(7):699-709. PubMed ID: 38219857 [TBL] [Abstract][Full Text] [Related]
3. Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland. Conti GM; Vaclavik V; Rivolta C; Escher P; Schorderet DF; Munier FL; Tran HV Ophthalmic Res; 2024; 67(1):172-182. PubMed ID: 38160664 [TBL] [Abstract][Full Text] [Related]
4. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Perea-Romero I; Gordo G; Iancu IF; Del Pozo-Valero M; Almoguera B; Blanco-Kelly F; Carreño E; Jimenez-Rolando B; Lopez-Rodriguez R; Lorda-Sanchez I; Martin-Merida I; Pérez de Ayala L; Riveiro-Alvarez R; Rodriguez-Pinilla E; Tahsin-Swafiri S; Trujillo-Tiebas MJ; ; ; ; Garcia-Sandoval B; Minguez P; Avila-Fernandez A; Corton M; Ayuso C Sci Rep; 2021 Jan; 11(1):1526. PubMed ID: 33452396 [TBL] [Abstract][Full Text] [Related]
6. Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing. Roberts L; Ratnapriya R; du Plessis M; Chaitankar V; Ramesar RS; Swaroop A Invest Ophthalmol Vis Sci; 2016 Nov; 57(14):6374-6381. PubMed ID: 27898983 [TBL] [Abstract][Full Text] [Related]
7. Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy. Wawrocka A; Skorczyk-Werner A; Wicher K; Niedziela Z; Ploski R; Rydzanicz M; Sykulski M; Kociecki J; Weisschuh N; Kohl S; Biskup S; Wissinger B; Krawczynski MR Mol Vis; 2018; 24():326-339. PubMed ID: 29769798 [TBL] [Abstract][Full Text] [Related]
8. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Karali M; Testa F; Di Iorio V; Torella A; Zeuli R; Scarpato M; Romano F; Onore ME; Pizzo M; Melillo P; Brunetti-Pierri R; Passerini I; Pelo E; Cremers FPM; Esposito G; Nigro V; Simonelli F; Banfi S Sci Rep; 2022 Dec; 12(1):20815. PubMed ID: 36460718 [TBL] [Abstract][Full Text] [Related]
9. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP Mol Vis; 2017; 23():470-481. PubMed ID: 28761320 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Sullivan LS; Bowne SJ; Birch DG; Hughbanks-Wheaton D; Heckenlively JR; Lewis RA; Garcia CA; Ruiz RS; Blanton SH; Northrup H; Gire AI; Seaman R; Duzkale H; Spellicy CJ; Zhu J; Shankar SP; Daiger SP Invest Ophthalmol Vis Sci; 2006 Jul; 47(7):3052-64. PubMed ID: 16799052 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. Jimenez HJ; Procopio RA; Thuma TBT; Marra MH; Izquierdo N; Klufas MA; Nagiel A; Pennesi ME; Pulido JS Int J Mol Sci; 2022 Nov; 23(21):. PubMed ID: 36362148 [TBL] [Abstract][Full Text] [Related]
14. Whole genome sequencing identifies elusive variants in genetically unsolved Italian inherited retinal disease patients. Zeuli R; Karali M; de Bruijn SE; Rodenburg K; Scarpato M; Capasso D; Astuti GDN; Gilissen C; Rodríguez-Hidalgo M; Ruiz-Ederra J; Testa F; Simonelli F; Cremers FPM; Banfi S; Roosing S HGG Adv; 2024 Jul; 5(3):100314. PubMed ID: 38816995 [TBL] [Abstract][Full Text] [Related]
15. A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Sharon D; Ben-Yosef T; Goldenberg-Cohen N; Pras E; Gradstein L; Soudry S; Mezer E; Zur D; Abbasi AH; Zeitz C; Cremers FPM; Khan MI; Levy J; Rotenstreich Y; Birk OS; Ehrenberg M; Leibu R; Newman H; Shomron N; Banin E; Perlman I Hum Mutat; 2020 Jan; 41(1):140-149. PubMed ID: 31456290 [TBL] [Abstract][Full Text] [Related]
17. Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom. Woof W; de Guimarães TAC; Al-Khuzaei S; Daich Varela M; Sen S; Bagga P; Mendes B; Shah M; Burke P; Parry D; Lin S; Naik G; Ghoshal B; Liefers B; Fu DJ; Georgiou M; Nguyen Q; da Silva AS; Liu Y; Fujinami-Yokokawa Y; Sumodhee D; Patel P; Furman J; Moghul I; Moosajee M; Sallum J; De Silva SR; Lorenz B; Holz F; Fujinami K; Webster AR; Mahroo O; Downes SM; Madhusudhan S; Balaskas K; Michaelides M; Pontikos N medRxiv; 2024 Aug; ():. PubMed ID: 38585957 [TBL] [Abstract][Full Text] [Related]
18. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. Biswas P; Villanueva AL; Soto-Hermida A; Duncan JL; Matsui H; Borooah S; Kurmanov B; Richard G; Khan SY; Branham K; Huang B; Suk J; Bakall B; Goldberg JL; Gabriel L; Khan NW; Raghavendra PB; Zhou J; Devalaraja S; Huynh A; Alapati A; Zawaydeh Q; Weleber RG; Heckenlively JR; Hejtmancik JF; Riazuddin S; Sieving PA; Riazuddin SA; Frazer KA; Ayyagari R PLoS Genet; 2021 Oct; 17(10):e1009848. PubMed ID: 34662339 [TBL] [Abstract][Full Text] [Related]
19. A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies. Barandika O; Irigoyen C; Anasagasti A; Egiguren G; Ezquerra-Inchausti M; López de Munain A; Ruiz-Ederra J Ophthalmic Res; 2016; 56(3):123-31. PubMed ID: 27160245 [TBL] [Abstract][Full Text] [Related]
20. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. Maria M; Ajmal M; Azam M; Waheed NK; Siddiqui SN; Mustafa B; Ayub H; Ali L; Ahmad S; Micheal S; Hussain A; Shah ST; Ali SH; Ahmed W; Khan YM; den Hollander AI; Haer-Wigman L; Collin RW; Khan MI; Qamar R; Cremers FP PLoS One; 2015; 10(3):e0119806. PubMed ID: 25775262 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]