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.
202 related articles for article (PubMed ID: 23308101)
1. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. Perrault I; Estrada-Cuzcano A; Lopez I; Kohl S; Li S; Testa F; Zekveld-Vroon R; Wang X; Pomares E; Andorf J; Aboussair N; Banfi S; Delphin N; den Hollander AI; Edelson C; Florijn R; Jean-Pierre M; Leowski C; Megarbane A; Villanueva C; Flores B; Munnich A; Ren H; Zobor D; Bergen A; Chen R; Cremers FP; Gonzalez-Duarte R; Koenekoop RK; Simonelli F; Stone E; Wissinger B; Zhang Q; Kaplan J; Rozet JM PLoS One; 2013; 8(1):e51622. PubMed ID: 23308101 [TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Optical coherence tomography and fundus autofluorescence imaging in an infant with Dikkaya F; Seyhan S; Erdur SK; Şentürk F; Aras C Ophthalmic Genet; 2020 Feb; 41(1):79-82. PubMed ID: 32083505 [No Abstract] [Full Text] [Related]
5. 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]
6. RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12. Molday LL; Djajadi H; Yan P; Szczygiel L; Boye SL; Chiodo VA; Gregory-Evans K; Sarunic MV; Hauswirth WW; Molday RS Hum Mol Genet; 2013 Oct; 22(19):3894-905. PubMed ID: 23740938 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress. Plana-Bonamaisó A; López-Begines S; Andilla J; Fidalgo MJ; Loza-Alvarez P; Estanyol JM; Villa P; Méndez A Cell Death Dis; 2020 Jan; 11(1):62. PubMed ID: 31980596 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells. Azadi S; Molday LL; Molday RS Proc Natl Acad Sci U S A; 2010 Dec; 107(49):21158-63. PubMed ID: 21078983 [TBL] [Abstract][Full Text] [Related]
11. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Li Y; Wang H; Peng J; Gibbs RA; Lewis RA; Lupski JR; Mardon G; Chen R Invest Ophthalmol Vis Sci; 2009 Mar; 50(3):1336-43. PubMed ID: 18936139 [TBL] [Abstract][Full Text] [Related]
12. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hanein S; Perrault I; Gerber S; Tanguy G; Barbet F; Ducroq D; Calvas P; Dollfus H; Hamel C; Lopponen T; Munier F; Santos L; Shalev S; Zafeiriou D; Dufier JL; Munnich A; Rozet JM; Kaplan J Hum Mutat; 2004 Apr; 23(4):306-17. PubMed ID: 15024725 [TBL] [Abstract][Full Text] [Related]
13. The genetic profile of Leber congenital amaurosis in an Australian cohort. Thompson JA; De Roach JN; McLaren TL; Montgomery HE; Hoffmann LH; Campbell IR; Chen FK; Mackey DA; Lamey TM Mol Genet Genomic Med; 2017 Nov; 5(6):652-667. PubMed ID: 29178642 [TBL] [Abstract][Full Text] [Related]
15. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous population. Salehi Chaleshtori AR; Garshasbi M; Salehi A; Noruzinia M Eur J Med Genet; 2020 Mar; 63(3):103750. PubMed ID: 31470097 [TBL] [Abstract][Full Text] [Related]
16. Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic Perrault I; Hanein S; Gérard X; Mounguengue N; Bouyakoub R; Zarhrate M; Fourrage C; Jabot-Hanin F; Bocquet B; Meunier I; Zanlonghi X; Kaplan J; Rozet JM Genes (Basel); 2021 Feb; 12(2):. PubMed ID: 33670832 [TBL] [Abstract][Full Text] [Related]
17. RDH12 retinopathy: novel mutations and phenotypic description. Mackay DS; Dev Borman A; Moradi P; Henderson RH; Li Z; Wright GA; Waseem N; Gandra M; Thompson DA; Bhattacharya SS; Holder GE; Webster AR; Moore AT Mol Vis; 2011; 17():2706-16. PubMed ID: 22065924 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Clinical phenotypes in carriers of Leber congenital amaurosis mutations. Galvin JA; Fishman GA; Stone EM; Koenekoop RK Ophthalmology; 2005 Feb; 112(2):349-56. PubMed ID: 15691574 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]