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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. 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
Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism.
Magharehabed M, Almadani N, Askari M, Naji M, Akbari A, Gourabi H, Sedighi Gilani MA, Reyhani Sabet F, Masoudi NS, Totonchi M. Magharehabed M, et al. Among authors: askari m. Andrologia. 2019 Aug;51(7):e13290. doi: 10.1111/and.13290. Epub 2019 Apr 17. Andrologia. 2019. PMID: 30995699
Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease.
Curry JN, Saurette M, Askari M, Pei L, Filla MB, Beggs MR, Rowe PS, Fields T, Sommer AJ, Tanikawa C, Kamatani Y, Evan AP, Totonchi M, Alexander RT, Matsuda K, Yu AS. Curry JN, et al. Among authors: askari m. J Clin Invest. 2020 Apr 1;130(4):1948-1960. doi: 10.1172/JCI127750. J Clin Invest. 2020. PMID: 32149733 Free PMC article.
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: askari m. 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: askari m. Sex Dev. 2021;15(4):244-252. doi: 10.1159/000515924. Epub 2021 Jul 22. Sex Dev. 2021. PMID: 34293745
371 results