343 related articles for article (PubMed ID: 17389517)
21. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW; van Genderen MM; Collin RW; Roosing S; de Brouwer AP; Riemslag FC; Venselaar H; Thiadens AA; Hoyng CB; Rohrschneider K; den Hollander AI; Cremers FP; van den Born LI
Invest Ophthalmol Vis Sci; 2009 May; 50(5):2344-50. PubMed ID: 19074807
[TBL] [Abstract][Full Text] [Related]
22. ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
De Zaeytijd J; Van Cauwenbergh C; De Bruyne M; Van Heetvelde M; De Baere E; Coppieters F; Leroy BP
Retina; 2021 Jun; 41(6):1346-1355. PubMed ID: 34001834
[TBL] [Abstract][Full Text] [Related]
23. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.
Thiadens AA; Roosing S; Collin RW; van Moll-Ramirez N; van Lith-Verhoeven JJ; van Schooneveld MJ; den Hollander AI; van den Born LI; Hoyng CB; Cremers FP; Klaver CC
Ophthalmology; 2010 Apr; 117(4):825-30.e1. PubMed ID: 20079539
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. High-resolution imaging with adaptive optics in patients with inherited retinal degeneration.
Duncan JL; Zhang Y; Gandhi J; Nakanishi C; Othman M; Branham KE; Swaroop A; Roorda A
Invest Ophthalmol Vis Sci; 2007 Jul; 48(7):3283-91. PubMed ID: 17591900
[TBL] [Abstract][Full Text] [Related]
26. Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Perrault I; Hanein S; Gerard X; Delphin N; Fares-Taie L; Gerber S; Pelletier V; Mercé E; Dollfus H; Puech B; Defoort-Dhellemmes S; Petersen MD; Zafeiriou D; Munnich A; Kaplan J; Roche O; Rozet JM
Hum Mutat; 2010 Mar; 31(3):E1241-50. PubMed ID: 20104588
[TBL] [Abstract][Full Text] [Related]
27. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Ebenezer ND; Michaelides M; Jenkins SA; Audo I; Webster AR; Cheetham ME; Stockman A; Maher ER; Ainsworth JR; Yates JR; Bradshaw K; Holder GE; Moore AT; Hardcastle AJ
Invest Ophthalmol Vis Sci; 2005 Jun; 46(6):1891-8. PubMed ID: 15914600
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Herrera W; Aleman TS; Cideciyan AV; Roman AJ; Banin E; Ben-Yosef T; Gardner LM; Sumaroka A; Windsor EA; Schwartz SB; Stone EM; Liu XZ; Kimberling WJ; Jacobson SG
Invest Ophthalmol Vis Sci; 2008 Jun; 49(6):2651-60. PubMed ID: 18281613
[TBL] [Abstract][Full Text] [Related]
30. A common founder mutation of CERKL underlies autosomal recessive retinal degeneration with early macular involvement among Yemenite Jews.
Auslender N; Sharon D; Abbasi AH; Garzozi HJ; Banin E; Ben-Yosef T
Invest Ophthalmol Vis Sci; 2007 Dec; 48(12):5431-8. PubMed ID: 18055789
[TBL] [Abstract][Full Text] [Related]
31. Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
Downes SM; Holder GE; Fitzke FW; Payne AM; Warren MJ; Bhattacharya SS; Bird AC
Arch Ophthalmol; 2001 Jan; 119(1):96-105. PubMed ID: 11146732
[TBL] [Abstract][Full Text] [Related]
32. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.
Littink KW; Pott JW; Collin RW; Kroes HY; Verheij JB; Blokland EA; de Castro Miró M; Hoyng CB; Klaver CC; Koenekoop RK; Rohrschneider K; Cremers FP; van den Born LI; den Hollander AI
Invest Ophthalmol Vis Sci; 2010 Jul; 51(7):3646-52. PubMed ID: 20130272
[TBL] [Abstract][Full Text] [Related]
33. Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.
Itabashi T; Wada Y; Sato H; Kawamura M; Shiono T; Tamai M
Am J Ophthalmol; 2004 Nov; 138(5):876-7. PubMed ID: 15531334
[TBL] [Abstract][Full Text] [Related]
34. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
Ben Salah S; Kamei S; Sénéćhal A; Lopez S; Bazalgette C; Bazalgette C; Eliaou CM; Zanlonghi X; Hamel CP
Am J Ophthalmol; 2008 Jun; 145(6):1099-106. PubMed ID: 18400204
[TBL] [Abstract][Full Text] [Related]
35. [From gene to disease; Leber congenital amaurosis (LCA)].
Yzer S; van den Born LI; Cremers FP; den Hollander AI
Ned Tijdschr Geneeskd; 2005 Oct; 149(42):2334-7. PubMed ID: 16261712
[TBL] [Abstract][Full Text] [Related]
36. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Renner AB; Kellner U; Cropp E; Preising MN; MacDonald IM; van den Hurk JA; Cremers FP; Foerster MH
Ophthalmology; 2006 Nov; 113(11):2066.e1-10. PubMed ID: 16935340
[TBL] [Abstract][Full Text] [Related]
37. Concentric retinitis pigmentosa: clinicopathologic correlations.
Milam AH; De Castro EB; Smith JE; Tang WX; John SK; Gorin MB; Stone EM; Aguirre GD; Jacobson SG
Exp Eye Res; 2001 Oct; 73(4):493-508. PubMed ID: 11825021
[TBL] [Abstract][Full Text] [Related]
38. Genotype-phenotype correlation of mouse pde6b mutations.
Hart AW; McKie L; Morgan JE; Gautier P; West K; Jackson IJ; Cross SH
Invest Ophthalmol Vis Sci; 2005 Sep; 46(9):3443-50. PubMed ID: 16123450
[TBL] [Abstract][Full Text] [Related]
39. Clinical phenotype in a Swedish family with a mutation in the IMPDH1 gene.
Schatz P; Ponjavic V; Andréasson S; McGee TL; Dryja TP; Abrahamson M
Ophthalmic Genet; 2005 Sep; 26(3):119-24. PubMed ID: 16272056
[TBL] [Abstract][Full Text] [Related]
40. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Azari AA; Aleman TS; Cideciyan AV; Schwartz SB; Windsor EA; Sumaroka A; Cheung AY; Steinberg JD; Roman AJ; Stone EM; Sheffield VC; Jacobson SG
Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):5004-10. PubMed ID: 17065520
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]