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Journal Abstract Search

207 related items for PubMed ID: 16909397

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  • 3. 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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  • 5. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.
    Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E.
    Ophthalmology; 2013 Nov 30; 120(11):2338-43. PubMed ID: 23725738
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  • 6. 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 30; 28(3):135-42. PubMed ID: 17896311
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  • 7. Cone dystrophy with "supernormal" rod ERG: psychophysical testing shows comparable rod and cone temporal sensitivity losses with no gain in rod function.
    Stockman A, Henning GB, Michaelides M, Moore AT, Webster AR, Cammack J, Ripamonti C.
    Invest Ophthalmol Vis Sci; 2014 Feb 10; 55(2):832-40. PubMed ID: 24370833
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  • 8. 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 10; 138(3):229-239. PubMed ID: 30877594
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  • 9. RETINA-specific expression of Kcnv2 is controlled by cone-rod homeobox (Crx) and neural retina leucine zipper (Nrl).
    Aslanidis A, Karlstetter M, Walczak Y, Jägle H, Langmann T.
    Adv Exp Med Biol; 2014 Jun 10; 801():31-41. PubMed ID: 24664678
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  • 10. 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 10; 145(6):1099-106. PubMed ID: 18400204
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  • 12. Two-color pupillometry in KCNV2 retinopathy.
    Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ.
    Doc Ophthalmol; 2019 Aug 10; 139(1):11-20. PubMed ID: 30927187
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  • 14. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
    Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S.
    Hum Mutat; 2011 Dec 10; 32(12):1398-406. PubMed ID: 21882291
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  • 18. "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 10; 30(1):51-62. PubMed ID: 19952985
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  • 19. Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.
    Liu M, Zhu Y, Huang L, Jiang W, Wu N, Song Y, Lu Y, Ma Y.
    Mol Genet Genomic Med; 2021 Oct 10; 9(10):e1795. PubMed ID: 34535971
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  • 20. 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 10; 32(1):664-672. PubMed ID: 33706576
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