273 related articles for article (PubMed ID: 32531858)
21. Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Bocquet B; Lacroux A; Surget MO; Baudoin C; Marquette V; Manes G; Hebrard M; Sénéchal A; Delettre C; Roux AF; Claustres M; Dhaenens CM; Rozet JM; Perrault I; Bonnefont JP; Kaplan J; Dollfus H; Amati-Bonneau P; Bonneau D; Reynier P; Audo I; Zeitz C; Sahel JA; Paquis-Flucklinger V; Calvas P; Arveiler B; Kohl S; Wissinger B; Blanchet C; Meunier I; Hamel CP
Ophthalmic Epidemiol; 2013; 20(1):13-25. PubMed ID: 23350551
[TBL] [Abstract][Full Text] [Related]
22. Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.
Abu-Ameerh M; Mohammad H; Dardas Z; Barham R; Ali D; Bijawi M; Tawalbeh M; Amr S; Hatmal MM; Al-Bdour M; Awidi A; Azab B
Mol Genet Genomic Med; 2020 Mar; 8(3):e1123. PubMed ID: 31968401
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
Surl D; Won D; Lee ST; Lee CS; Lee J; Lim HT; Chung SA; Song WK; Kim M; Kim SS; Shin S; Choi JR; Sangermano R; Byeon SH; Bujakowska KM; Han J
JAMA Netw Open; 2024 May; 7(5):e2414198. PubMed ID: 38819824
[TBL] [Abstract][Full Text] [Related]
25. Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X; Zein WM; D'Souza L; Roberson C; Wetherby K; He H; Villarta A; Turriff A; Johnson KR; Fann YC
BMC Ophthalmol; 2017 Aug; 17(1):157. PubMed ID: 28838317
[TBL] [Abstract][Full Text] [Related]
26. [Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics].
Bolz HJ; Kochs CL; Holz FG; Bucher F; Herrmann P
Ophthalmologie; 2023 Dec; 120(12):1251-1257. PubMed ID: 37606831
[TBL] [Abstract][Full Text] [Related]
27. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT.
Marques JP; Carvalho AL; Henriques J; Murta JN; Saraiva J; Silva R
Orphanet J Rare Dis; 2020 Oct; 15(1):304. PubMed ID: 33109251
[TBL] [Abstract][Full Text] [Related]
28. Next-generation sequencing targeted disease panel in rod-cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation.
Vincent AL; Abeysekera N; van Bysterveldt KA; Oliver VF; Ellingford JM; Barton S; Black GC
Clin Exp Ophthalmol; 2017 Dec; 45(9):901-910. PubMed ID: 28488341
[TBL] [Abstract][Full Text] [Related]
29. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
Bravo-Gil N; Méndez-Vidal C; Romero-Pérez L; González-del Pozo M; Rodríguez-de la Rúa E; Dopazo J; Borrego S; Antiñolo G
Sci Rep; 2016 Apr; 6():23910. PubMed ID: 27032803
[TBL] [Abstract][Full Text] [Related]
30. Longitudinal analysis of health care costs in patients with childhood onset inherited retinal dystrophies compared to healthy controls.
Kessel L; Kjellberg J; Ibsen R; Rasmussen A; Nissen KR; la Cour M
BMC Ophthalmol; 2022 Dec; 22(1):466. PubMed ID: 36460996
[TBL] [Abstract][Full Text] [Related]
31. A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.
Ezquerra-Inchausti M; Anasagasti A; Barandika O; Garay-Aramburu G; Galdós M; López de Munain A; Irigoyen C; Ruiz-Ederra J
Sci Rep; 2018 Oct; 8(1):15457. PubMed ID: 30337596
[TBL] [Abstract][Full Text] [Related]
32. Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.
de Castro-Miró M; Tonda R; Escudero-Ferruz P; Andrés R; Mayor-Lorenzo A; Castro J; Ciccioli M; Hidalgo DA; Rodríguez-Ezcurra JJ; Farrando J; Pérez-Santonja JJ; Cormand B; Marfany G; Gonzàlez-Duarte R
PLoS One; 2016; 11(12):e0168966. PubMed ID: 28005958
[TBL] [Abstract][Full Text] [Related]
33. Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia.
Heath Jeffery RC; Mukhtar SA; McAllister IL; Morgan WH; Mackey DA; Chen FK
Ophthalmic Genet; 2021 Aug; 42(4):431-439. PubMed ID: 33939573
[No Abstract] [Full Text] [Related]
34. Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies.
Boulanger-Scemama E; Mohand-Saïd S; El Shamieh S; Démontant V; Condroyer C; Antonio A; Michiels C; Boyard F; Saraiva JP; Letexier M; Sahel JA; Zeitz C; Audo I
Int J Mol Sci; 2019 Sep; 20(19):. PubMed ID: 31574917
[TBL] [Abstract][Full Text] [Related]
35. Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study.
Suppiej A; Ceccato C; Maritan V; Cermakova I; Colavito D; Leon A
Eur J Paediatr Neurol; 2021 Mar; 31():1-9. PubMed ID: 33529788
[TBL] [Abstract][Full Text] [Related]
36. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M; Shanks M; Packham E; Williams J; Haysmoore J; MacLaren RE; Németh AH; Clouston P; Downes SM
Ophthalmic Genet; 2020 Aug; 41(4):331-337. PubMed ID: 32543920
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. 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]
39. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.
Gonzàlez-Duarte R; de Castro-Miró M; Tuson M; Ramírez-Castañeda V; Gils RV; Marfany G
Adv Exp Med Biol; 2019; 1185():215-219. PubMed ID: 31884614
[TBL] [Abstract][Full Text] [Related]
40. Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.
Taylor RL; Parry NRA; Barton SJ; Campbell C; Delaney CM; Ellingford JM; Hall G; Hardcastle C; Morarji J; Nichol EJ; Williams LC; Douzgou S; Clayton-Smith J; Ramsden SC; Sharma V; Biswas S; Lloyd IC; Ashworth JL; Black GC; Sergouniotis PI
Ophthalmology; 2017 Jul; 124(7):985-991. PubMed ID: 28341476
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]