194 related articles for article (PubMed ID: 32565670)
1. Biallelic
Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME
Mol Vis; 2020; 26():423-433. PubMed ID: 32565670
[TBL] [Abstract][Full Text] [Related]
2. Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.
Verbakel SK; van Huet RAC; den Hollander AI; Geerlings MJ; Kersten E; Klevering BJ; Klaver CCW; Plomp AS; Wesseling NL; Bergen AAB; Nikopoulos K; Rivolta C; Ikeda Y; Sonoda KH; Wada Y; Boon CJF; Nakazawa T; Hoyng CB; Nishiguchi KM
Invest Ophthalmol Vis Sci; 2019 Mar; 60(4):1192-1203. PubMed ID: 30913292
[TBL] [Abstract][Full Text] [Related]
3. Inherited retinal dystrophies in a Kuwaiti tribe.
Pandova MG; Abduljalil T; Elshafey AE; Abdelmoaty SMA; Albastawisy HI; Bastaki LA; Alsaleh H; Kozak I; AlMerjan JI
Ophthalmic Genet; 2022 Aug; 43(4):438-445. PubMed ID: 35272565
[TBL] [Abstract][Full Text] [Related]
4. PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X; Fu Q; Fang S; Li H; Ge Z; Yang L; Xu M; Sun Z; Li H; Li Y; Dong F; Chen R; Sui R
Retina; 2019 Oct; 39(10):2040-2052. PubMed ID: 30134391
[TBL] [Abstract][Full Text] [Related]
5. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML; Brodie SE; Cideciyan AV; Pfeifer WL; Kennedy EL; Stone EM; Jacobson SG; Drack AV
Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans.
Kim DG; Joo K; Han J; Choi M; Kim SW; Park KH; Park SJ; Lee CS; Byeon SH; Woo SJ
Genes (Basel); 2023 May; 14(5):. PubMed ID: 37239417
[TBL] [Abstract][Full Text] [Related]
9. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Georgiou M; Robson AG; Fujinami K; de Guimarães TAC; Fujinami-Yokokawa Y; Daich Varela M; Pontikos N; Kalitzeos A; Mahroo OA; Webster AR; Michaelides M
Prog Retin Eye Res; 2024 May; 100():101244. PubMed ID: 38278208
[TBL] [Abstract][Full Text] [Related]
12. The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
Hull S; Arno G; Plagnol V; Chamney S; Russell-Eggitt I; Thompson D; Ramsden SC; Black GC; Robson AG; Holder GE; Moore AT; Webster AR
Invest Ophthalmol Vis Sci; 2014 Sep; 55(10):6934-44. PubMed ID: 25270190
[TBL] [Abstract][Full Text] [Related]
13.
Mairot K; Smirnov V; Bocquet B; Labesse G; Arndt C; Defoort-Dhellemmes S; Zanlonghi X; Hamroun D; Denis D; Picot MC; David T; Grunewald O; Pégart M; Huguet H; Roux AF; Kalatzis V; Dhaenens CM; Meunier I
Int J Mol Sci; 2021 Nov; 22(23):. PubMed ID: 34884448
[TBL] [Abstract][Full Text] [Related]
14. CEP290 Mutation Spectrum and Delineation of the Associated Phenotype in a Large German Cohort: A Monocentric Study.
Feldhaus B; Weisschuh N; Nasser F; den Hollander AI; Cremers FPM; Zrenner E; Kohl S; Zobor D
Am J Ophthalmol; 2020 Mar; 211():142-150. PubMed ID: 31734136
[TBL] [Abstract][Full Text] [Related]
15. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Dev Borman A; Ocaka LA; Mackay DS; Ripamonti C; Henderson RH; Moradi P; Hall G; Black GC; Robson AG; Holder GE; Webster AR; Fitzke F; Stockman A; Moore AT
Invest Ophthalmol Vis Sci; 2012 Jun; 53(7):3927-38. PubMed ID: 22570351
[TBL] [Abstract][Full Text] [Related]
16. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Corton M; Avila-Fernandez A; Vallespín E; López-Molina MI; Almoguera B; Martín-Garrido E; Tatu SD; Khan MI; Blanco-Kelly F; Riveiro-Alvarez R; Brión M; García-Sandoval B; Cremers FPM; Carracedo A; Ayuso C
Ophthalmology; 2014 Jan; 121(1):399-407. PubMed ID: 24144451
[TBL] [Abstract][Full Text] [Related]
17. Detailed clinical characterisation, unique features and natural history of autosomal recessive
Fahim AT; Bouzia Z; Branham KH; Kumaran N; Vargas ME; Feathers KL; Perera ND; Young K; Khan NW; Heckenlively JR; Webster AR; Pennesi ME; Ali RR; Thompson DA; Michaelides M
Br J Ophthalmol; 2019 Dec; 103(12):1789-1796. PubMed ID: 30979730
[TBL] [Abstract][Full Text] [Related]
18. Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Yang L; Fujinami K; Ueno S; Kuniyoshi K; Hayashi T; Kondo M; Mizota A; Naoi N; Shinoda K; Kameya S; Fujinami-Yokokawa Y; Liu X; Arno G; Pontikos N; Kominami T; Terasaki H; Sakuramoto H; Katagiri S; Mizobuchi K; Nakamura N; Mawatari G; Kurihara T; Tsubota K; Miyake Y; Yoshitake K; Iwata T; Tsunoda K;
Sci Rep; 2020 Mar; 10(1):5497. PubMed ID: 32218477
[TBL] [Abstract][Full Text] [Related]
19. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
[TBL] [Abstract][Full Text] [Related]
20.
D'Esposito F; Randazzo V; Vega MI; Esposito G; Maltese PE; Torregrossa S; Scibetta P; Listì F; Gagliano C; Scalia L; Pioppo A; Marino A; Piergentili M; Malvone E; Fioretti T; Vitrano A; Piccione M; Avitabile T; Salvatore F; Bertelli M; Costagliola C; Cordeiro MF; Maggio A; D'Alcamo E
Medicina (Kaunas); 2024 Feb; 60(2):. PubMed ID: 38399542
[No Abstract] [Full Text] [Related]
[Next] [New Search]
