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Journal Abstract Search

187 related items for PubMed ID: 33960280

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  • 4. 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. 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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  • 7. Clinical course of two siblings with potassium voltage-gated channel modifier subfamily V member 2 (KCNV2)-associated retinopathy.
    Sato T, Kuniyoshi K, Hayashi T, Nishiwaki H, Mizobuchi K, Kusaka S.
    Doc Ophthalmol; 2024 Jun 30; 148(3):173-182. PubMed ID: 38630375
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  • 9. 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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  • 10. 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 30; 9(10):e1795. PubMed ID: 34535971
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  • 11. 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 Oct 30; 801():31-41. PubMed ID: 24664678
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  • 15. 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 30; 96(2):213-7. PubMed ID: 21558291
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  • 16. CENTRAL ELLIPSOID LOSS ASSOCIATED WITH CONE DYSTROPHY AND KCNV2 MUTATION.
    Xu D, Su D, Nusinowitz S, Sarraf D.
    Retin Cases Brief Rep; 2012 Feb 30; 12 Suppl 1():S59-S62. PubMed ID: 29210963
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  • 18. 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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  • 20. 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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