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Journal Abstract Search

147 related items for PubMed ID: 38630375

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 52(5):528-544. PubMed ID: 38443311
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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; 138(3):229-239. PubMed ID: 30877594
    [Abstract] [Full Text] [Related]

  • 7. 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; 9(10):e1795. PubMed ID: 34535971
    [Abstract] [Full Text] [Related]

  • 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; 120(11):2338-43. PubMed ID: 23725738
    [Abstract] [Full Text] [Related]

  • 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; 32(1):664-672. PubMed ID: 33706576
    [Abstract] [Full Text] [Related]

  • 10. 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; 42(2):144-149. PubMed ID: 33372566
    [Abstract] [Full Text] [Related]

  • 11. 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; 141(1):23-32. PubMed ID: 31960170
    [Abstract] [Full Text] [Related]

  • 12. KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.
    Georgiou M, Robson AG, Fujinami K, Leo SM, Vincent A, Nasser F, Cabral De Guimarães TA, Khateb S, Pontikos N, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Vargas ME, Thiadens AAHJ, de Carvalho ER, Nguyen XT, Arno G, Mahroo OA, Martin-Merida MI, Jimenez-Rolando B, Gordo G, Carreño E, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Wissinger B, Boon CJF, Banin E, Pennesi ME, Khan AO, Webster AR, Zrenner E, Héon E, Michaelides M.
    Am J Ophthalmol; 2021 May; 225():95-107. PubMed ID: 33309813
    [Abstract] [Full Text] [Related]

  • 13. Transient electroretinographic abnormalities that mimic those of KCNV2 retinopathy: a case report.
    Kaizuka C, Hayashi T, Mizobuchi K, Kubota M, Ueno S, Nakano T.
    Doc Ophthalmol; 2021 Oct; 143(2):221-228. PubMed ID: 33738644
    [Abstract] [Full Text] [Related]

  • 14. KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
    de Guimaraes TAC, Georgiou M, Robson AG, Fujinami K, Vincent A, Nasser F, Khateb S, Mahroo OA, Pontikos N, Vargas ME, Thiadens AAHJ, Carvalho ER, Nguyen XT, Arno G, Fujinami-Yokokawa Y, Liu X, Tsunoda K, Hayashi T, Jiménez-Rolando B, Martin-Merida MI, Avila-Fernandez A, Salas EC, Garcia-Sandoval B, Ayuso C, Sharon D, Kohl S, Huckfeldt RM, Banin E, Pennesi ME, Khan AO, Wissinger B, Webster AR, Heon E, Boon CJF, Zrenner E, Michaelides M.
    Br J Ophthalmol; 2024 Jul 23; 108(8):1137-1144. PubMed ID: 37852740
    [Abstract] [Full Text] [Related]

  • 15. 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 Jul 23; 19():1580-90. PubMed ID: 23885164
    [Abstract] [Full Text] [Related]

  • 16. Coexistence of KCNV2 associated cone dystrophy with supernormal rod electroretinogram and MFRP related oculopathy in a Turkish family.
    Ritter M, Vodopiutz J, Lechner S, Moser E, Schmidt-Erfurth UM, Janecke AR.
    Br J Ophthalmol; 2013 Feb 23; 97(2):169-73. PubMed ID: 23143909
    [Abstract] [Full Text] [Related]

  • 17. Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2.
    Friedburg C, Wissinger B, Schambeck M, Bonin M, Kohl S, Lorenz B.
    Invest Ophthalmol Vis Sci; 2011 Nov 07; 52(12):8621-9. PubMed ID: 21911584
    [Abstract] [Full Text] [Related]

  • 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 07; 30(1):51-62. PubMed ID: 19952985
    [Abstract] [Full Text] [Related]

  • 19. Two-color pupillometry in KCNV2 retinopathy.
    Collison FT, Park JC, Fishman GA, Stone EM, McAnany JJ.
    Doc Ophthalmol; 2019 Aug 07; 139(1):11-20. PubMed ID: 30927187
    [Abstract] [Full Text] [Related]

  • 20. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
    Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC, Writing Committee for the Cone Disorders Study Group Consortium, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ.
    Ophthalmology; 2012 Apr 07; 119(4):819-26. PubMed ID: 22264887
    [Abstract] [Full Text] [Related]

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