170 related articles for article (PubMed ID: 31342828)
1. A Novel
Gumus E; Ozgur A
Fetal Pediatr Pathol; 2020 Jun; 39(3):251-258. PubMed ID: 31342828
[No Abstract] [Full Text] [Related]
2. Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Pennesi ME; Stover NB; Stone EM; Chiang PW; Weleber RG
Invest Ophthalmol Vis Sci; 2011 Oct; 52(11):8166-73. PubMed ID: 21900377
[TBL] [Abstract][Full Text] [Related]
3. Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population.
Wang S; Zhang Q; Zhang X; Wang Z; Zhao P
Graefes Arch Clin Exp Ophthalmol; 2016 Nov; 254(11):2227-2238. PubMed ID: 27422788
[TBL] [Abstract][Full Text] [Related]
4. Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.
Tan MH; Mackay DS; Cowing J; Tran HV; Smith AJ; Wright GA; Dev-Borman A; Henderson RH; Moradi P; Russell-Eggitt I; MacLaren RE; Robson AG; Cheetham ME; Thompson DA; Webster AR; Michaelides M; Ali RR; Moore AT
PLoS One; 2012; 7(3):e32330. PubMed ID: 22412862
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Leber Congenital Amaurosis.
Tsang SH; Sharma T
Adv Exp Med Biol; 2018; 1085():131-137. PubMed ID: 30578499
[TBL] [Abstract][Full Text] [Related]
8. Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.
Damji KF; Sohocki MM; Khan R; Gupta SK; Rahim M; Loyer M; Hussein N; Karim N; Ladak SS; Jamal A; Bulman D; Koenekoop RK
Can J Ophthalmol; 2001 Aug; 36(5):252-9. PubMed ID: 11548141
[TBL] [Abstract][Full Text] [Related]
9. A new novel nonsense mutation in
Wan L; Xiang L; Wang H; Shi Y; Jiang D; Hao F; Huang L
Ophthalmic Genet; 2019 Aug; 40(4):380-384. PubMed ID: 31576779
[No Abstract] [Full Text] [Related]
10. Novel mutation identified in Leber congenital amaurosis - a case report.
Sato S; Morimoto T; Tanaka S; Hotta K; Fujikado T; Tsujikawa M; Nishida K
BMC Ophthalmol; 2020 Jul; 20(1):313. PubMed ID: 32736544
[TBL] [Abstract][Full Text] [Related]
11. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
[TBL] [Abstract][Full Text] [Related]
12. Clinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
Zhang Q; Sun J; Liu Z; Wang H; Zhou H; Liu W; Jia H; Li N; Li T; Wang F; Sun X
Am J Ophthalmol; 2024 Jun; ():. PubMed ID: 38880373
[TBL] [Abstract][Full Text] [Related]
13. Investigation of PTC124-mediated translational readthrough in a retinal organoid model of AIPL1-associated Leber congenital amaurosis.
Leung A; Sacristan-Reviriego A; Perdigão PRL; Sai H; Georgiou M; Kalitzeos A; Carr AF; Coffey PJ; Michaelides M; Bainbridge J; Cheetham ME; van der Spuy J
Stem Cell Reports; 2022 Oct; 17(10):2187-2202. PubMed ID: 36084639
[TBL] [Abstract][Full Text] [Related]
14. Gene and Cell Therapy for AIPL1-Associated Leber Congenital Amaurosis: Challenges and Prospects.
Perdigao PRL; van der Spuy J
Adv Exp Med Biol; 2019; 1185():97-101. PubMed ID: 31884595
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
Gradstein L; Zolotushko J; Sergeev YV; Lavy I; Narkis G; Perez Y; Guigui S; Sharon D; Banin E; Walter E; Lifshitz T; Birk OS
BMC Med Genet; 2016 Jul; 17(1):52. PubMed ID: 27475985
[TBL] [Abstract][Full Text] [Related]
17. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.
Safieh LA; Al-Otaibi HM; Lewis RA; Kozak I
Middle East Afr J Ophthalmol; 2016; 23(1):139-41. PubMed ID: 26957854
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]