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A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Among authors: levy j. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, Elbedour K, Myllyharju J, Birk OS. Mordechai S, et al. Among authors: levy j. Am J Hum Genet. 2011 Sep 9;89(3):438-45. doi: 10.1016/j.ajhg.2011.08.003. Epub 2011 Sep 1. Am J Hum Genet. 2011. PMID: 21885030 Free PMC article.
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
Wormser O, Gradstein L, Kadar E, Yogev Y, Perez Y, Mashkit E, Elbedour K, Drabkin M, Markus B, Kadir R, Halperin D, Khalaila S, Levy J, Lifshitz T, Manor E, Birk OS. Wormser O, et al. Among authors: levy j. Am J Med Genet A. 2018 Dec;176(12):2695-2703. doi: 10.1002/ajmg.a.40668. Epub 2018 Dec 4. Am J Med Genet A. 2018. PMID: 30513137
Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.
Ben Ner D, Sher I, Hamburg A, Mhajna MO, Chibel R, Derazne E, Sharvit-Ginon I, Pras E, Newman H, Levy J, Khateb S, Sharon D, Rotenstreich Y. Ben Ner D, et al. Among authors: levy j. Clin Ophthalmol. 2019 Mar 5;13:465-475. doi: 10.2147/OPTH.S191486. eCollection 2019. Clin Ophthalmol. 2019. PMID: 30880907 Free PMC article.
Retinal laser injury during a laser show.
Shneck M, Levy J, Klemperer I, Lifshitz T. Shneck M, et al. Among authors: levy j. Retin Cases Brief Rep. 2007 Summer;1(3):178-81. doi: 10.1097/01.ICB.0000279655.23981.99. Retin Cases Brief Rep. 2007. PMID: 25390789
5,495 results