464 related articles for article (PubMed ID: 19952985)
1. "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.
Robson AG; Webster AR; Michaelides M; Downes SM; Cowing JA; Hunt DM; Moore AT; Holder GE
Retina; 2010 Jan; 30(1):51-62. PubMed ID: 19952985
[TBL] [Abstract][Full Text] [Related]
2. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Thiagalingam S; McGee TL; Weleber RG; Sandberg MA; Trzupek KM; Berson EL; Dryja TP
Ophthalmic Genet; 2007 Sep; 28(3):135-42. PubMed ID: 17896311
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic variation in enhanced S-cone syndrome.
Audo I; Michaelides M; Robson AG; Hawlina M; Vaclavik V; Sandbach JM; Neveu MM; Hogg CR; Hunt DM; Moore AT; Bird AC; Webster AR; Holder GE
Invest Ophthalmol Vis Sci; 2008 May; 49(5):2082-93. PubMed ID: 18436841
[TBL] [Abstract][Full Text] [Related]
6. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related "cone dystrophy with supernormal rod electroretinogram".
Vincent A; Wright T; Garcia-Sanchez Y; Kisilak M; Campbell M; Westall C; Héon E
Invest Ophthalmol Vis Sci; 2013 Jan; 54(1):898-908. PubMed ID: 23221069
[TBL] [Abstract][Full Text] [Related]
7. High-resolution optical coherence tomography imaging in KCNV2 retinopathy.
Sergouniotis PI; Holder GE; Robson AG; Michaelides M; Webster AR; Moore AT
Br J Ophthalmol; 2012 Feb; 96(2):213-7. PubMed ID: 21558291
[TBL] [Abstract][Full Text] [Related]
8. 'Cone dystrophy with supranormal rod response' in children.
Khan AO; Alrashed M; Alkuraya FS
Br J Ophthalmol; 2012 Mar; 96(3):422-6. PubMed ID: 21900228
[TBL] [Abstract][Full Text] [Related]
9. A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A; Robson AG; Neveu MM; Wright GA; Moore AT; Webster AR; Holder GE
Ophthalmology; 2013 Jul; 120(7):1454-64. PubMed ID: 23453514
[TBL] [Abstract][Full Text] [Related]
10. Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
Robson AG; Michaelides M; Luong VA; Holder GE; Bird AC; Webster AR; Moore AT; Fitzke FW
Br J Ophthalmol; 2008 Jan; 92(1):95-102. PubMed ID: 17962389
[TBL] [Abstract][Full Text] [Related]
11. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
Niwa Y; Kondo M; Ueno S; Nakamura M; Terasaki H; Miyake Y
Invest Ophthalmol Vis Sci; 2005 Apr; 46(4):1480-5. PubMed ID: 15790919
[TBL] [Abstract][Full Text] [Related]
12. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
Friedburg C; Wissinger B; Schambeck M; Bonin M; Kohl S; Lorenz B
Invest Ophthalmol Vis Sci; 2011 Nov; 52(12):8621-9. PubMed ID: 21911584
[TBL] [Abstract][Full Text] [Related]
13. Analysis of retinal structure and function in cone dystrophy with supernormal rod response.
Abdelkader E; Yasir ZH; Khan AM; Raddadi O; Khandekar R; Alateeq N; Nowilaty S; AlShahrani N; Schatz P
Doc Ophthalmol; 2020 Aug; 141(1):23-32. PubMed ID: 31960170
[TBL] [Abstract][Full Text] [Related]
14. [Multi-flash ERG in cone dystrophies and cone-rod dystrophies].
Walter P; Widder RA; Brunner R
Klin Monbl Augenheilkd; 1998 Feb; 212(2):88-92. PubMed ID: 9577807
[TBL] [Abstract][Full Text] [Related]
15. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K
Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
[TBL] [Abstract][Full Text] [Related]
16. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.
Michaelides M; Holder GE; Hunt DM; Fitzke FW; Bird AC; Moore AT
Br J Ophthalmol; 2005 Feb; 89(2):198-206. PubMed ID: 15665353
[TBL] [Abstract][Full Text] [Related]
17. Pathognomonic (diagnostic) ERGs. A review and update.
Vincent A; Robson AG; Holder GE
Retina; 2013 Jan; 33(1):5-12. PubMed ID: 23263253
[TBL] [Abstract][Full Text] [Related]
18. Electroretinogram in cone dystrophy.
Iijima H; Yamaguchi S; Kogure S; Hosaka O; Shibutani T
Jpn J Ophthalmol; 1991; 35(4):453-66. PubMed ID: 1821435
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining.
Jacobson SG; Cideciyan AV; Aleman TS; Sumaroka A; Roman AJ; Swider M; Schwartz SB; Banin E; Stone EM
Invest Ophthalmol Vis Sci; 2011 Jan; 52(1):70-9. PubMed ID: 20702822
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
