1024 related articles for article (PubMed ID: 26147992)
21. Novel RDH12 mutations associated with Leber congenital amaurosis and cone-rod dystrophy: biochemical and clinical evaluations.
Sun W; Gerth C; Maeda A; Lodowski DT; Van Der Kraak L; Saperstein DA; Héon E; Palczewski K
Vision Res; 2007 Jul; 47(15):2055-66. PubMed ID: 17512964
[TBL] [Abstract][Full Text] [Related]
22. An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.
Henderson RH; Waseem N; Searle R; van der Spuy J; Russell-Eggitt I; Bhattacharya SS; Thompson DA; Holder GE; Cheetham ME; Webster AR; Moore AT
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5684-9. PubMed ID: 18055820
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa.
Booij JC; Florijn RJ; ten Brink JB; Loves W; Meire F; van Schooneveld MJ; de Jong PT; Bergen AA
J Med Genet; 2005 Nov; 42(11):e67. PubMed ID: 16272259
[TBL] [Abstract][Full Text] [Related]
25. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
Siemiatkowska AM; Arimadyo K; Moruz LM; Astuti GD; de Castro-Miro M; Zonneveld MN; Strom TM; de Wijs IJ; Hoefsloot LH; Faradz SM; Cremers FP; den Hollander AI; Collin RW
Mol Vis; 2011; 17():3013-24. PubMed ID: 22128245
[TBL] [Abstract][Full Text] [Related]
26. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.
Coussa RG; Otto EA; Gee HY; Arthurs P; Ren H; Lopez I; Keser V; Fu Q; Faingold R; Khan A; Schwartzentruber J; Majewski J; Hildebrandt F; Koenekoop RK
Clin Genet; 2013 Aug; 84(2):150-9. PubMed ID: 23683095
[TBL] [Abstract][Full Text] [Related]
27. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
Kannabiran C; Singh H; Sahini N; Jalali S; Mohan G
Mol Vis; 2012; 18():1165-74. PubMed ID: 22605927
[TBL] [Abstract][Full Text] [Related]
28. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Mataftsi A; Schorderet DF; Chachoua L; Boussalah M; Nouri MT; Barthelmes D; Borruat FX; Munier FL
Invest Ophthalmol Vis Sci; 2007 Nov; 48(11):5160-7. PubMed ID: 17962469
[TBL] [Abstract][Full Text] [Related]
29. Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Bocquet B; Marzouka NA; Hebrard M; Manes G; Sénéchal A; Meunier I; Hamel CP
Mol Vis; 2013; 19():2487-500. PubMed ID: 24339724
[TBL] [Abstract][Full Text] [Related]
30. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
Singh HP; Jalali S; Narayanan R; Kannabiran C
Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4065-71. PubMed ID: 19339744
[TBL] [Abstract][Full Text] [Related]
31. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
Zernant J; Külm M; Dharmaraj S; den Hollander AI; Perrault I; Preising MN; Lorenz B; Kaplan J; Cremers FP; Maumenee I; Koenekoop RK; Allikmets R
Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3052-9. PubMed ID: 16123401
[TBL] [Abstract][Full Text] [Related]
32. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.
Mayer AK; Mahajnah M; Zobor D; Bonin M; Sharkia R; Wissinger B
Mol Vis; 2015; 21():306-15. PubMed ID: 25814828
[TBL] [Abstract][Full Text] [Related]
33. Leber congenital amaurosis: genes, proteins and disease mechanisms.
den Hollander AI; Roepman R; Koenekoop RK; Cremers FP
Prog Retin Eye Res; 2008 Jul; 27(4):391-419. PubMed ID: 18632300
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.
Pomares E; Riera M; Permanyer J; Méndez P; Castro-Navarro J; Andrés-Gutiérrez A; Marfany G; Gonzàlez-Duarte R
Eur J Hum Genet; 2010 Jan; 18(1):118-24. PubMed ID: 19584904
[TBL] [Abstract][Full Text] [Related]
36. Novel mutations in CRB1 and ABCA4 genes cause Leber congenital amaurosis and Stargardt disease in a Swedish family.
Jonsson F; Burstedt MS; Sandgren O; Norberg A; Golovleva I
Eur J Hum Genet; 2013 Nov; 21(11):1266-71. PubMed ID: 23443024
[TBL] [Abstract][Full Text] [Related]
37. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
Tiab L; Largueche L; Chouchane I; Derouiche K; Munier FL; El Matri L; Schorderet DF
Mol Vis; 2013; 19():829-34. PubMed ID: 23592920
[TBL] [Abstract][Full Text] [Related]
38. Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.
Guo X; Li J; Wang Q; Shu Y; Wang J; Chen L; Zhang H; Shi Y; Yang J; Lu F; Jiang L; Qu C; Gong B
Mol Med Rep; 2019 Sep; 20(3):2922-2928. PubMed ID: 31322236
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Sergouniotis PI; Davidson AE; Mackay DS; Li Z; Yang X; Plagnol V; Moore AT; Webster AR
Am J Hum Genet; 2011 Jul; 89(1):183-90. PubMed ID: 21763485
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]