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Journal Abstract Search

150 related items for PubMed ID: 33706576

  • 1. 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; 32(1):664-672. PubMed ID: 33706576
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  • 2. A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.
    Liu PK, Ryu J, Yeh LK, Chen KJ, Tsang SH, Liu L, Wang NK.
    Ophthalmic Genet; 2021 Aug; 42(4):458-463. 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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  • 7. Long-term follow-up of a Chinese patient with KCNV2-retinopathy.
    Lie H, Wang G, Liu X, Meng X, Long Y, Ren J, Yang L, Fujinami-Yokokawa Y, Kurihara T, Tsubota K, Fujinami K, Li S.
    Ophthalmic Genet; 2021 Apr 30; 42(2):144-149. PubMed ID: 33372566
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  • 8. 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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  • 10. 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. Novel and Previously Known Mutations of the KCNV2 Gene Cause Various Variants of the Clinical Course of Cone Dystrophy with Supernormal Rod Response in Children.
    Alsalloum A, Mosin I, Shefer K, Mingaleva N, Kim A, Feoktistova S, Malyugin B, Boiko E, Sultanov S, Mityaeva O, Volchkov P.
    J Clin Med; 2024 Aug 06; 13(16):. PubMed ID: 39200733
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  • 12. 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 06; 96(2):213-7. PubMed ID: 21558291
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  • 13. 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 06; 9(10):e1795. PubMed ID: 34535971
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  • 15. Two-color pupillometry in KCNV2 retinopathy.
    Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ.
    Doc Ophthalmol; 2019 Aug 06; 139(1):11-20. PubMed ID: 30927187
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  • 18. 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 06; 145(6):1099-106. PubMed ID: 18400204
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  • 19. Structural and functional characterization of an individual with the M285R KCNV2 hypomorphic allele.
    de Guimaraes TAC, Lai F, Colombatti R, Sato G, Rizzo R, Kalitzeos A, Michaelides M.
    Ophthalmic Genet; 2024 Aug 06; 45(4):425-434. PubMed ID: 38454848
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  • 20. Fundus autofluorescence, optical coherence tomography and electroretinography abnormalities in a patient with digoxin retinopathy that resemble those in KCNV2-associated retinopathy.
    Nagae Y, Kuniyoshi K, Ishibashi M, Tanabe F, Matsumoto C, Kusaka S.
    Doc Ophthalmol; 2023 Oct 06; 147(2):131-137. PubMed ID: 37460904
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