276 related articles for article (PubMed ID: 26298565)
1. GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone-rod dystrophies.
Jiang F; Xu K; Zhang X; Xie Y; Bai F; Li Y
Doc Ophthalmol; 2015 Oct; 131(2):105-14. PubMed ID: 26298565
[TBL] [Abstract][Full Text] [Related]
2. A novel GUCY2D mutation in a Chinese family with dominant cone dystrophy.
Zhao X; Ren Y; Zhang X; Chen C; Dong B; Li Y
Mol Vis; 2013; 19():1039-46. PubMed ID: 23734073
[TBL] [Abstract][Full Text] [Related]
3. GUCY2D- or GUCA1A-related autosomal dominant cone-rod dystrophy: is there a phenotypic difference?
Zobor D; Zrenner E; Wissinger B; Kohl S; Jägle H
Retina; 2014 Aug; 34(8):1576-87. PubMed ID: 24875811
[TBL] [Abstract][Full Text] [Related]
4. Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.
Xu F; Dong F; Li H; Li X; Jiang R; Sui R
Doc Ophthalmol; 2013 Jun; 126(3):233-40. PubMed ID: 23686677
[TBL] [Abstract][Full Text] [Related]
5. Novel complex GUCY2D mutation in Japanese family with cone-rod dystrophy.
Ito S; Nakamura M; Nuno Y; Ohnishi Y; Nishida T; Miyake Y
Invest Ophthalmol Vis Sci; 2004 May; 45(5):1480-5. PubMed ID: 15111605
[TBL] [Abstract][Full Text] [Related]
6. Variants at codon 838 in the
Sun Z; Wu S; Zhu T; Li H; Wei X; Du H; Sui R
Ophthalmic Genet; 2020 Dec; 41(6):548-555. PubMed ID: 32811265
[TBL] [Abstract][Full Text] [Related]
7. Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Garcia-Hoyos M; Auz-Alexandre CL; Almoguera B; Cantalapiedra D; Riveiro-Alvarez R; Lopez-Martinez MA; Gimenez A; Blanco-Kelly F; Avila-Fernandez A; Trujillo-Tiebas MJ; Garcia-Sandoval B; Ramos C; Ayuso C
Mol Vis; 2011 Apr; 17():1103-9. PubMed ID: 21552474
[TBL] [Abstract][Full Text] [Related]
8. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients.
Ito S; Nakamura M; Ohnishi Y; Miyake Y
Jpn J Ophthalmol; 2004; 48(3):228-35. PubMed ID: 15175914
[TBL] [Abstract][Full Text] [Related]
9. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
Kitiratschky VB; Wilke R; Renner AB; Kellner U; Vadalà M; Birch DG; Wissinger B; Zrenner E; Kohl S
Invest Ophthalmol Vis Sci; 2008 Nov; 49(11):5015-23. PubMed ID: 18487367
[TBL] [Abstract][Full Text] [Related]
10. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
Lazar CH; Mutsuddi M; Kimchi A; Zelinger L; Mizrahi-Meissonnier L; Marks-Ohana D; Boleda A; Ratnapriya R; Sharon D; Swaroop A; Banin E
Invest Ophthalmol Vis Sci; 2014 Dec; 56(1):420-30. PubMed ID: 25515582
[TBL] [Abstract][Full Text] [Related]
11. Novel triple missense mutations of GUCY2D gene in Japanese family with cone-rod dystrophy: possible use of genotyping microarray.
Yoshida S; Yamaji Y; Yoshida A; Kuwahara R; Yamamoto K; Kubata T; Ishibashi T
Mol Vis; 2006 Dec; 12():1558-64. PubMed ID: 17200655
[TBL] [Abstract][Full Text] [Related]
12. New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.
Small KW; Silva-Garcia R; Udar N; Nguyen EV; Heckenlively JR
Arch Ophthalmol; 2008 Mar; 126(3):397-403. PubMed ID: 18332321
[TBL] [Abstract][Full Text] [Related]
13. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
Downes SM; Payne AM; Kelsell RE; Fitzke FW; Holder GE; Hunt DM; Moore AT; Bird AC
Arch Ophthalmol; 2001 Nov; 119(11):1667-73. PubMed ID: 11709018
[TBL] [Abstract][Full Text] [Related]
14. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
Van Ghelue M; Eriksen HL; Ponjavic V; Fagerheim T; Andréasson S; Forsman-Semb K; Sandgren O; Holmgren G; Tranebjaerg L
Ophthalmic Genet; 2000 Dec; 21(4):197-209. PubMed ID: 11135490
[TBL] [Abstract][Full Text] [Related]
15. A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.
Mukherjee R; Robson AG; Holder GE; Stockman A; Egan CA; Moore AT; Webster AR
Eye (Lond); 2014 Apr; 28(4):481-7. PubMed ID: 24480840
[TBL] [Abstract][Full Text] [Related]
16. Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1.
Smith M; Whittock N; Searle A; Croft M; Brewer C; Cole M
Eye (Lond); 2007 Sep; 21(9):1220-5. PubMed ID: 17041576
[TBL] [Abstract][Full Text] [Related]
17. Cone dystrophy or macular dystrophy associated with novel autosomal dominant
Manes G; Mamouni S; Hérald E; Richard AC; Sénéchal A; Aouad K; Bocquet B; Meunier I; Hamel CP
Mol Vis; 2017; 23():198-209. PubMed ID: 28442884
[TBL] [Abstract][Full Text] [Related]
18. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
Stunkel ML; Brodie SE; Cideciyan AV; Pfeifer WL; Kennedy EL; Stone EM; Jacobson SG; Drack AV
Am J Ophthalmol; 2018 Jun; 190():58-68. PubMed ID: 29559409
[TBL] [Abstract][Full Text] [Related]
19. Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.
Jiang F; Pan Z; Xu K; Tian L; Xie Y; Zhang X; Chen J; Dong B; Li Y
Invest Ophthalmol Vis Sci; 2016 Jan; 57(1):145-52. PubMed ID: 26780318
[TBL] [Abstract][Full Text] [Related]
20. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
Li S; Huang L; Xiao X; Jia X; Guo X; Zhang Q
JAMA Ophthalmol; 2014 Sep; 132(9):1076-83. PubMed ID: 24903488
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
