187 related articles for article (PubMed ID: 24752437)
1. Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
Kuniyoshi K; Sakuramoto H; Yoshitake K; Abe K; Ikeo K; Furuno M; Tsunoda K; Kusaka S; Shimomura Y; Iwata T
Doc Ophthalmol; 2014 Jun; 128(3):219-28. PubMed ID: 24752437
[TBL] [Abstract][Full Text] [Related]
2. A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
Glen WB; Peterseim MMW; Badilla R; Znoyko I; Bourg A; Wilson R; Hardiman G; Wolff D; Martinez J
Ophthalmic Genet; 2019 Apr; 40(2):110-117. PubMed ID: 30870047
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
Katagiri S; Hayashi T; Yoshitake K; Akahori M; Ikeo K; Gekka T; Tsuneoka H; Iwata T
Ophthalmic Genet; 2016; 37(1):68-75. PubMed ID: 25113443
[TBL] [Abstract][Full Text] [Related]
5. RPE65 Mutations in Two Japanese Families with Leber Congenital Amaurosis.
Katagiri S; Hayashi T; Kondo M; Tsukitome H; Yoshitake K; Akahori M; Ikeo K; Tsuneoka H; Iwata T
Ophthalmic Genet; 2016 Jun; 37(2):161-9. PubMed ID: 25495949
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
Preising MN; Hausotter-Will N; Solbach MC; Friedburg C; Rüschendorf F; Lorenz B
Invest Ophthalmol Vis Sci; 2012 Jun; 53(7):3463-72. PubMed ID: 22531706
[TBL] [Abstract][Full Text] [Related]
8. Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.
Mackay DS; Ocaka LA; Borman AD; Sergouniotis PI; Henderson RH; Moradi P; Robson AG; Thompson DA; Webster AR; Moore AT
Invest Ophthalmol Vis Sci; 2011 May; 52(6):3032-8. PubMed ID: 21310915
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A; Volk AE; Herkenrath P; Thiele H; Fricke J; Altmüller J; Nürnberg P; Kubisch C; Neugebauer A
Graefes Arch Clin Exp Ophthalmol; 2015 Dec; 253(12):2239-46. PubMed ID: 26464178
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L; Ouyang W; Zhang M; Wang H; Li S; Meng X; Yin ZQ
Ophthalmic Genet; 2021 Aug; 42(4):392-401. PubMed ID: 33970760
[No Abstract] [Full Text] [Related]
13. De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
Zou X; Yao F; Liang X; Xu F; Li H; Sui R; Dong F
Ophthalmic Genet; 2015 Mar; 36(1):21-6. PubMed ID: 24001014
[TBL] [Abstract][Full Text] [Related]
14. Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.
Ayash J; Woods RL; Akula JD; Rajabi F; Alwattar BK; Altschwager P; Fulton AB
Am J Ophthalmol; 2024 Jul; 263():168-178. PubMed ID: 38461945
[TBL] [Abstract][Full Text] [Related]
15. Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M; Moya R; Azevedo Souza Amaral R; Schlottmann PG; Álvarez Mendiara A; Francone A; Guazi Resende R; Capalbo L; Gelvez N; López G; Morales-Acevedo AM; Ossa RH; Arno G; Michaelides M; Tamayo ML; Ferraz Sallum JM
Ophthalmol Retina; 2024 Feb; 8(2):163-173. PubMed ID: 37714431
[TBL] [Abstract][Full Text] [Related]
16. Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy.
Kuniyoshi K; Ikeo K; Sakuramoto H; Furuno M; Yoshitake K; Hatsukawa Y; Nakao A; Tsunoda K; Kusaka S; Shimomura Y; Iwata T
Doc Ophthalmol; 2015 Feb; 130(1):49-55. PubMed ID: 25323024
[TBL] [Abstract][Full Text] [Related]
17. Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Garg A; Lee W; Sengillo JD; Allikmets R; Garg K; Tsang SH
Ophthalmic Genet; 2017 Dec; 38(6):575-579. PubMed ID: 28513254
[TBL] [Abstract][Full Text] [Related]
18. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Weleber RG; Michaelides M; Trzupek KM; Stover NB; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):292-302. PubMed ID: 20811047
[TBL] [Abstract][Full Text] [Related]
19. Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D; Tarlan B; Kıratlı H; Ozgül RK
DNA Cell Biol; 2014 Dec; 33(12):876-83. PubMed ID: 25148430
[TBL] [Abstract][Full Text] [Related]
20. Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Guo Y; Prokudin I; Yu C; Liang J; Xie Y; Flaherty M; Tian L; Crofts S; Wang F; Snyder J; Donaldson C; Abdel-Magid N; Vazquez L; Keating B; Hakonarson H; Wang J; Jamieson RV
Ophthalmic Genet; 2015; 36(4):333-8. PubMed ID: 24547928
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
