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KCNV2-associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3.
Br J Ophthalmol. 2023 Oct 18:bjo-2023-323640. doi: 10.1136/bjo-2023-323640. Online ahead of print.
Br J Ophthalmol. 2023.
PMID: 37852740
Free article.
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.
Georgiou M, et al. Among authors: martin merida mi.
Am J Ophthalmol. 2021 May;225:95-107. doi: 10.1016/j.ajo.2020.11.022. Epub 2020 Dec 11.
Am J Ophthalmol. 2021.
PMID: 33309813
Free PMC article.
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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.
Georgiou M, et al. Among authors: martin merida mi.
Am J Ophthalmol. 2021 Oct;230:1-11. doi: 10.1016/j.ajo.2021.03.004. Epub 2021 Mar 15.
Am J Ophthalmol. 2021.
PMID: 33737031
Free PMC article.
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Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys.
Cerrada V, García-López M, Moreno-Izquierdo A, Villaverde C, Zurita O, Martin-Merida MI, Arenas J, Ayuso C, Gallardo ME.
Cerrada V, et al. Among authors: martin merida mi.
Stem Cell Res. 2019 Oct;40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29.
Stem Cell Res. 2019.
PMID: 31509793
Free article.
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