700 related articles for article (PubMed ID: 29559409)
1. 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]
2. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
Ugur Iseri SA; Durlu YK; Tolun A
Eur J Hum Genet; 2010 Oct; 18(10):1121-6. PubMed ID: 20517349
[TBL] [Abstract][Full Text] [Related]
3. Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T; Hosono K; Kurata K; Katagiri S; Mizobuchi K; Ueno S; Kondo M; Nakano T; Hotta Y
Doc Ophthalmol; 2020 Apr; 140(2):147-157. PubMed ID: 31583501
[TBL] [Abstract][Full Text] [Related]
4. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
Miraldi Utz V; Pfeifer W; Longmuir SQ; Olson RJ; Wang K; Drack AV
JAMA Ophthalmol; 2018 Apr; 136(4):389-398. PubMed ID: 29522070
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM; Ikeda Y; Fujita K; Kunikata H; Akiho M; Hashimoto K; Hosono K; Kurata K; Koyanagi Y; Akiyama M; Suzuki T; Kawasaki R; Wada Y; Hotta Y; Sonoda KH; Murakami A; Nakazawa M; Nakazawa T; Abe T
Ophthalmology; 2019 Nov; 126(11):1557-1566. PubMed ID: 31257036
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Dev Borman A; Ocaka LA; Mackay DS; Ripamonti C; Henderson RH; Moradi P; Hall G; Black GC; Robson AG; Holder GE; Webster AR; Fitzke F; Stockman A; Moore AT
Invest Ophthalmol Vis Sci; 2012 Jun; 53(7):3927-38. PubMed ID: 22570351
[TBL] [Abstract][Full Text] [Related]
8. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
Al Oreany AA; Al Hadlaq A; Schatz P
Graefes Arch Clin Exp Ophthalmol; 2016 Oct; 254(10):1951-1956. PubMed ID: 27084085
[TBL] [Abstract][Full Text] [Related]
9. GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.
Bouzia Z; Georgiou M; Hull S; Robson AG; Fujinami K; Rotsos T; Pontikos N; Arno G; Webster AR; Hardcastle AJ; Fiorentino A; Michaelides M
Am J Ophthalmol; 2020 Feb; 210():59-70. PubMed ID: 31704230
[TBL] [Abstract][Full Text] [Related]
10. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM; Florijn RJ; Bergen AA; van den Born LI; Kamermans M; Prick L; Riemslag FC; van Schooneveld MJ; Kappers AM; van Genderen MM
Ophthalmology; 2013 Oct; 120(10):2072-81. PubMed ID: 23714322
[TBL] [Abstract][Full Text] [Related]
11. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations.
Jacobson SG; Cideciyan AV; Sumaroka A; Roman AJ; Charng J; Lu M; Choudhury S; Schwartz SB; Heon E; Fishman GA; Boye SE
Am J Ophthalmol; 2017 May; 177():44-57. PubMed ID: 28212877
[TBL] [Abstract][Full Text] [Related]
12. Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
Chen RW; Greenberg JP; Lazow MA; Ramachandran R; Lima LH; Hwang JC; Schubert C; Braunstein A; Allikmets R; Tsang SH
Am J Ophthalmol; 2012 Jan; 153(1):143-54.e2. PubMed ID: 21920492
[TBL] [Abstract][Full Text] [Related]
13. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.
Talib M; van Schooneveld MJ; van Genderen MM; Wijnholds J; Florijn RJ; Ten Brink JB; Schalij-Delfos NE; Dagnelie G; Cremers FPM; Wolterbeek R; Fiocco M; Thiadens AA; Hoyng CB; Klaver CC; Bergen AA; Boon CJF
Ophthalmology; 2017 Jun; 124(6):884-895. PubMed ID: 28341475
[TBL] [Abstract][Full Text] [Related]
14. The importance of genetic testing as demonstrated by two cases of
Men CJ; Bujakowska KM; Comander J; Place E; Bedoukian EC; Zhu X; Leroy BP; Fulton AB; Pierce EA
Mol Vis; 2017; 23():695-706. PubMed ID: 29062221
[TBL] [Abstract][Full Text] [Related]
15. Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM; Zeitz C; Soumittra N; Audo I; Defoort-Dhellemmes S
Doc Ophthalmol; 2018 Apr; 136(2):135-143. PubMed ID: 29525873
[TBL] [Abstract][Full Text] [Related]
16. Biallelic
Huckfeldt RM; Grigorian F; Place E; Comander JI; Vavvas D; Young LH; Yang P; Shurygina M; Pierce EA; Pennesi ME
Mol Vis; 2020; 26():423-433. PubMed ID: 32565670
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D Gene.
Hahn LC; Georgiou M; Almushattat H; van Schooneveld MJ; de Carvalho ER; Wesseling NL; Ten Brink JB; Florijn RJ; Lissenberg-Witte BI; Strubbe I; van Cauwenbergh C; de Zaeytijd J; Walraedt S; de Baere E; Mukherjee R; McKibbin M; Meester-Smoor MA; Thiadens AAHJ; Al-Khuzaei S; Akyol E; Lotery AJ; van Genderen MM; Ossewaarde-van Norel J; van den Born LI; Hoyng CB; Klaver CCW; Downes SM; Bergen AA; Leroy BP; Michaelides M; Boon CJF
Ophthalmol Retina; 2022 Aug; 6(8):711-722. PubMed ID: 35314386
[TBL] [Abstract][Full Text] [Related]
20. Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.
Koenekoop RK; Fishman GA; Iannaccone A; Ezzeldin H; Ciccarelli ML; Baldi A; Sunness JS; Lotery AJ; Jablonski MM; Pittler SJ; Maumenee I
Arch Ophthalmol; 2002 Oct; 120(10):1325-30. PubMed ID: 12365911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
