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Journal Abstract Search

123 related items for PubMed ID: 29210963

  • 1. CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION.
    Xu D, Su D, Nusinowitz S, Sarraf D.
    Retin Cases Brief Rep; ; 12 Suppl 1():S59-S62. PubMed ID: 29210963
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  • 2. 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 30; 54(1):898-908. PubMed ID: 23221069
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  • 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 30; 145(6):1099-106. PubMed ID: 18400204
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  • 4. 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 30; 49(2):751-7. PubMed ID: 18235024
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  • 6. "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; 30(1):51-62. PubMed ID: 19952985
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  • 8. 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 30; 141(1):23-32. PubMed ID: 31960170
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  • 9. Natural history and biomarkers of KCNV2-associated retinopathy.
    Sakti DH, Cornish EE, Ali H, Retsas S, Raza M, Saakova N, Carvalho LS, Nash BM, Jamieson RV, Grigg JR.
    Clin Exp Ophthalmol; 2024 Jul 30; 52(5):528-544. PubMed ID: 38443311
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  • 11. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans.
    Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR.
    Am J Hum Genet; 2006 Sep 30; 79(3):574-9. PubMed ID: 16909397
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  • 13. Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
    Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, Rocha-Sousa A.
    Eur J Ophthalmol; 2022 Jan 30; 32(1):664-672. PubMed ID: 33706576
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  • 14. Two-color pupillometry in KCNV2 retinopathy.
    Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ.
    Doc Ophthalmol; 2019 Aug 30; 139(1):11-20. PubMed ID: 30927187
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  • 15. NOVEL CONE DYSTROPHY WITH CENTRAL ELLIPSOID ZONE LOSS ASSOCIATED WITH HUMAN RETINAL FASCIN GENE (FSCN2) MUTATION.
    Gui W, Nusinowitz S, Sarraf D.
    Retin Cases Brief Rep; 2019 Aug 30; 12 Suppl 1():S63-S66. PubMed ID: 29016529
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  • 17. Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses.
    Kutsuma T, Katagiri S, Hayashi T, Yoshitake K, Iejima D, Gekka T, Kohzaki K, Mizobuchi K, Baba Y, Terauchi R, Matsuura T, Ueno S, Iwata T, Nakano T.
    Doc Ophthalmol; 2019 Jun 30; 138(3):229-239. PubMed ID: 30877594
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