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Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
J Med Genet. 2017 Sep 18;54(10):698-704. doi: 10.1136/jmedgenet-2017-104632. Epub 2017 Aug 9.
J Med Genet. 2017.
PMID: 28794130
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
Tatour Y, Tamaiev J, Shamaly S, Colombo R, Bril E, Rabinowitz T, Yaakobi A, Mezer E, Leibu R, Tiosano B, Shomron N, Chowers I, Banin E, Sharon D, Ben-Yosef T.
Tatour Y, et al.
Mol Vis. 2019 Feb 22;25:155-164. eCollection 2019.
Mol Vis. 2019.
PMID: 30820151
Free PMC article.
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Male sterility and reduced female fertility in SCAPER-deficient mice.
Tatour Y, Bar-Joseph H, Shalgi R, Ben-Yosef T.
Tatour Y, et al.
Hum Mol Genet. 2020 Aug 3;29(13):2240-2249. doi: 10.1093/hmg/ddaa113.
Hum Mol Genet. 2020.
PMID: 32510560
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Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects.
Tatour Y, Ben-Yosef T.
Tatour Y, et al.
Diagnostics (Basel). 2020 Oct 2;10(10):779. doi: 10.3390/diagnostics10100779.
Diagnostics (Basel). 2020.
PMID: 33023209
Free PMC article.
Review.
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Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex.
Koren T, Zagairy F, Tatour Y, Belhanes-Peled H, Khayat M, Krausz J, Danial-Farran N, Ziv M, Cohen-Barak E.
Koren T, et al. Among authors: tatour y.
Exp Dermatol. 2022 Dec;31(12):1927-1931. doi: 10.1111/exd.14661. Epub 2022 Aug 23.
Exp Dermatol. 2022.
PMID: 35960249
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Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
Cohen-Barak E, Mwassi B, Zagairy F, Danial-Farran N, Khayat M, Tatour Y, Ziv M.
Cohen-Barak E, et al. Among authors: tatour y.
J Dermatol. 2022 Mar;49(3):379-382. doi: 10.1111/1346-8138.16268. Epub 2021 Dec 9.
J Dermatol. 2022.
PMID: 34889473
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Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E.
Atzmony L, et al. Among authors: tatour y.
JAMA Dermatol. 2024 Mar 27. doi: 10.1001/jamadermatol.2024.0152. Online ahead of print.
JAMA Dermatol. 2024.
PMID: 38536168
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Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S.
Panneman DM, et al. Among authors: tatour y.
Front Cell Dev Biol. 2023 Feb 3;11:1112270. doi: 10.3389/fcell.2023.1112270. eCollection 2023.
Front Cell Dev Biol. 2023.
PMID: 36819107
Free PMC article.
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