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Journal Abstract Search
167 related items for PubMed ID: 23885164
1. 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; 19():1580-90. PubMed ID: 23885164 [Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
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; 138(3):229-239. PubMed ID: 30877594 [Abstract] [Full Text] [Related]
6. 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]
12. 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]
13. 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; 79(3):574-9. PubMed ID: 16909397 [Abstract] [Full Text] [Related]
18. 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 [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 06; 139(1):11-20. PubMed ID: 30927187 [Abstract] [Full Text] [Related]