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Single gene defects leading to sperm quantitative anomalies.
Mitchell MJ, Metzler-Guillemain C, Toure A, Coutton C, Arnoult C, Ray PF. Mitchell MJ, et al. Clin Genet. 2017 Feb;91(2):208-216. doi: 10.1111/cge.12900. Epub 2016 Nov 22. Clin Genet. 2017. PMID: 27779755 Review.
SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes.
Kherraf ZE, Christou-Kent M, Karaouzene T, Amiri-Yekta A, Martinez G, Vargas AS, Lambert E, Borel C, Dorphin B, Aknin-Seifer I, Mitchell MJ, Metzler-Guillemain C, Escoffier J, Nef S, Grepillat M, Thierry-Mieg N, Satre V, Bailly M, Boitrelle F, Pernet-Gallay K, Hennebicq S, Fauré J, Bottari SP, Coutton C, Ray PF, Arnoult C. Kherraf ZE, et al. Among authors: mitchell mj. EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461. EMBO Mol Med. 2017. PMID: 28554943 Free PMC article.
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: mitchell mj. 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.
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: mitchell mj. Hum Mol Genet. 2017 Aug 15;26(16):3167-3171. doi: 10.1093/hmg/ddx200. Hum Mol Genet. 2017. PMID: 28541472
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: mitchell mj. 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.
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: mitchell mj. J Med Genet. 2004 Nov;41(11):814-25. doi: 10.1136/jmg.2004.022111. J Med Genet. 2004. PMID: 15520406 Free PMC article.
Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.
Paci M, Elkhatib R, Longepied G, Hennebicq S, Bessonat J, Courbière B, Bourgeois P, Levy N, Mitchell MJ, Metzler-Guillemain C. Paci M, et al. Among authors: mitchell mj. Reprod Biomed Online. 2017 Nov;35(5):562-570. doi: 10.1016/j.rbmo.2017.07.013. Epub 2017 Aug 4. Reprod Biomed Online. 2017. PMID: 28882431
HSFY genes and the P4 palindrome in the AZFb interval of the human Y chromosome are not required for spermatocyte maturation.
Kichine E, Rozé V, Di Cristofaro J, Taulier D, Navarro A, Streichemberger E, Decarpentrie F, Metzler-Guillemain C, Lévy N, Chiaroni J, Paquis-Flucklinger V, Fellmann F, Mitchell MJ. Kichine E, et al. Among authors: mitchell mj. Hum Reprod. 2012 Feb;27(2):615-24. doi: 10.1093/humrep/der421. Epub 2011 Dec 8. Hum Reprod. 2012. PMID: 22158087
376 results