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PUBMED FOR HANDHELDS

Journal Abstract Search


139 related items for PubMed ID: 37852740

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  • 3. 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; 148(3):173-182. PubMed ID: 38630375
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  • 4. RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
    Georgiou M, Robson AG, Jovanovic K, Guimarães TAC, Ali N, Pontikos N, Uwaydat SH, Mahroo OA, Cheetham ME, Webster AR, Hardcastle AJ, Michaelides M.
    Ophthalmology; 2023 Apr; 130(4):413-422. PubMed ID: 36423731
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  • 8. 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; 147(2):131-137. PubMed ID: 37460904
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  • 9. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.
    Georgiou M, Fujinami K, Vincent A, Nasser F, Khateb S, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, De Guimarães TAC, Robson AG, Mahroo OA, Pontikos N, Arno G, Fujinami-Yokokawa Y, Leo SM, Liu X, Tsunoda K, Hayashi T, Jimenez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Carreño E, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Boon CJF, Banin E, Pennesi ME, Wissinger B, Webster AR, Héon E, Khan AO, Zrenner E, Michaelides M.
    Am J Ophthalmol; 2021 Oct; 230():1-11. PubMed ID: 33737031
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  • 12. Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies.
    Romano F, Lamanna F, Boon CJF, Siligato A, Kalra G, Agarwal A, Medori C, Bertelli M, Pellegrini M, Invernizzi A, Staurenghi G, Salvetti AP.
    Ophthalmol Retina; 2024 May; 8(5):509-519. PubMed ID: 37924945
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  • 13. 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
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  • 14. 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
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  • 16. 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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  • 17. Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
    Lesch B, Szabó V, Kánya M, Somfai GM, Vámos R, Varsányi B, Pámer Z, Knézy K, Salacz G, Janáky M, Ferencz M, Hargitai J, Papp A, Farkas A.
    Mol Vis; 2008 Jan; 14():2321-32. PubMed ID: 19093009
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  • 18. 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; 45(4):425-434. PubMed ID: 38454848
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  • 20. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants.
    Fujinami K, Tsunoda K, Nakamura N, Kato Y, Noda T, Shinoda K, Tomita K, Hatase T, Usui T, Akahori M, Itabashi T, Iwata T, Ozawa Y, Tsubota K, Miyake Y.
    Mol Vis; 2013 Aug; 19():1580-90. PubMed ID: 23885164
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