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PubMed (OMIM) for id: 84074
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Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
Clin Genet. 2019 Nov;96(5):394-401. doi: 10.1111/cge.13604. Epub 2019 Jul 17.
Clin Genet. 2019.
PMID: 31292949
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
Coutton C, Martinez G, Kherraf ZE, Amiri-Yekta A, Boguenet M, Saut A, He X, Zhang F, Cristou-Kent M, Escoffier J, Bidart M, Satre V, Conne B, Fourati Ben Mustapha S, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Pernet-Gallay K, Bonhivers M, Hennebicq S, Rives N, Dulioust E, Touré A, Gourabi H, Cao Y, Zouari R, Hosseini SH, Nef S, Thierry-Mieg N, Arnoult C, Ray PF.
Coutton C, et al.
Am J Hum Genet. 2019 Feb 7;104(2):331-340. doi: 10.1016/j.ajhg.2018.12.013. Epub 2019 Jan 24.
Am J Hum Genet. 2019.
PMID: 30686508
Free PMC article.
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Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Shen Y, Zhang F, Li F, Jiang X, Yang Y, Li X, Li W, Wang X, Cheng J, Liu M, Zhang X, Yuan G, Pei X, Cai K, Hu F, Sun J, Yan L, Tang L, Jiang C, Tu W, Xu J, Wu H, Kong W, Li S, Wang K, Sheng K, Zhao X, Yue H, Yang X, Xu W.
Shen Y, et al.
Nat Commun. 2019 Jan 25;10(1):433. doi: 10.1038/s41467-018-08182-x.
Nat Commun. 2019.
PMID: 30683861
Free PMC article.
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