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Identification of a missense variant in CLDN2 in obstructive azoospermia.
Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari MH, Almadani N, Sadighi Gilani MA, Gourabi H, Vosough Taghi Dizaj A, Mohseni Meybodi A, Sadeghi M, Bashamboo A, McElreavey K, Totonchi M. Askari M, et al. Among authors: mcelreavey k. J Hum Genet. 2019 Oct;64(10):1023-1032. doi: 10.1038/s10038-019-0642-0. Epub 2019 Jul 18. J Hum Genet. 2019. PMID: 31320686
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene.
Eozenou C, Gonen N, Touzon MS, Jorgensen A, Yatsenko SA, Fusee L, Kamel AK, Gellen B, Guercio G, Singh P, Witchel S, Berman AJ, Mainpal R, Totonchi M, Mohseni Meybodi A, Askari M, Merel-Chali T, Bignon-Topalovic J, Migale R, Costanzo M, Marino R, Ramirez P, Perez Garrido N, Berensztein E, Mekkawy MK, Schimenti JC, Bertalan R, Mazen I, McElreavey K, Belgorosky A, Lovell-Badge R, Rajkovic A, Bashamboo A. Eozenou C, et al. Among authors: mcelreavey k. Proc Natl Acad Sci U S A. 2020 Jun 16;117(24):13680-13688. doi: 10.1073/pnas.1921676117. Epub 2020 Jun 3. Proc Natl Acad Sci U S A. 2020. PMID: 32493750 Free PMC article.
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Zidoune H, Martinerie L, Tan DS, Askari M, Rezgoune D, Ladjouze A, Boukri A, Benelmadani Y, Sifi K, Abadi N, Satta D, Rastari M, Seresht-Ahmadi M, Bignon-Topalovic J, Mazen I, Leger J, Simon D, Brauner R, Totonchi M, Jauch R, Bashamboo A, McElreavey K. Zidoune H, et al. Among authors: mcelreavey k. Sex Dev. 2021;15(4):244-252. doi: 10.1159/000515924. Epub 2021 Jul 22. Sex Dev. 2021. PMID: 34293745
Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.
Ben Rekaya M, Naouali C, Messaoud O, Jones M, Bouyacoub Y, Nagara M, Pippucci T, Jmel H, Chargui M, Jerbi M, Alibi M, Dallali H, Bashamboo A, McElreavey K, Romeo G, Barakat A, Zghal M, Yacoub-Youssef H, Abdelhak S. Ben Rekaya M, et al. Among authors: mcelreavey k. J Dermatol Sci. 2018 Feb;89(2):172-180. doi: 10.1016/j.jdermsci.2017.10.015. Epub 2017 Nov 2. J Dermatol Sci. 2018. PMID: 29169765
243 results