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Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility.
Machev N, Saut N, Longepied G, Terriou P, Navarro A, Levy N, Guichaoua M, Metzler-Guillemain C, Collignon P, Frances AM, Belougne J, Clemente E, Chiaroni J, Chevillard C, Durand C, Ducourneau A, Pech N, McElreavey K, Mattei MG, Mitchell MJ. Machev N, et al. Among authors: longepied g. J Med Genet. 2004 Nov;41(11):814-25. doi: 10.1136/jmg.2004.022111. J Med Genet. 2004. PMID: 15520406 Free PMC article.
The gr/gr deletion(s): a new genetic test in male infertility?
Giachini C, Guarducci E, Longepied G, Degl'Innocenti S, Becherini L, Forti G, Mitchell MJ, Krausz C. Giachini C, et al. Among authors: longepied g. J Med Genet. 2005 Jun;42(6):497-502. doi: 10.1136/jmg.2004.028191. J Med Genet. 2005. PMID: 15937085 Free PMC article. No abstract available.
Human and mouse ZFY genes produce a conserved testis-specific transcript encoding a zinc finger protein with a short acidic domain and modified transactivation potential.
Decarpentrie F, Vernet N, Mahadevaiah SK, Longepied G, Streichemberger E, Aknin-Seifer I, Ojarikre OA, Burgoyne PS, Metzler-Guillemain C, Mitchell MJ. Decarpentrie F, et al. Among authors: longepied g. Hum Mol Genet. 2012 Jun 15;21(12):2631-45. doi: 10.1093/hmg/dds088. Epub 2012 Mar 9. Hum Mol Genet. 2012. PMID: 22407129 Free PMC article.
Homozygous deletion of SUN5 in three men with decapitated spermatozoa.
Elkhatib RA, Paci M, Longepied G, Saias-Magnan J, Courbière B, Guichaoua MR, Lévy N, Metzler-Guillemain C, Mitchell MJ. Elkhatib RA, et al. Among authors: longepied g. Hum Mol Genet. 2017 Aug 15;26(16):3167-3171. doi: 10.1093/hmg/ddx200. Hum Mol Genet. 2017. PMID: 28541472
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.
Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ. Auguste Y, et al. Among authors: longepied g. Am J Hum Genet. 2018 Sep 6;103(3):413-420. doi: 10.1016/j.ajhg.2018.07.013. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122541 Free PMC article.
18 results