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[AFU and SALF recommendations for the evaluation of male infertility].
Huyghe E, Boitrelle F, Methorst C, Mieusset R, Ray PF, Akakpo W, Koscinski I, Chalas C, Rives N, Plotton I, Robin G, El Osta R, Hennebicq S, Eustache F, Marcelli F, Lejeune H. Huyghe E, et al. Among authors: ray pf. Prog Urol. 2021 Mar;31(3):131-144. doi: 10.1016/j.purol.2020.09.011. Epub 2020 Dec 9. Prog Urol. 2021. PMID: 33309127 Review. French.
The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.
Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, Sèle B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF. Dieterich K, et al. Among authors: ray pf. Hum Mol Genet. 2009 Apr 1;18(7):1301-9. doi: 10.1093/hmg/ddp029. Epub 2009 Jan 15. Hum Mol Genet. 2009. PMID: 19147683
DPY19L2 deletion as a major cause of globozoospermia.
Koscinski I, Elinati E, Fossard C, Redin C, Muller J, Velez de la Calle J, Schmitt F, Ben Khelifa M, Ray PF, Kilani Z, Barratt CL, Viville S. Koscinski I, et al. Among authors: ray pf. Am J Hum Genet. 2011 Mar 11;88(3):344-50. doi: 10.1016/j.ajhg.2011.01.018. Am J Hum Genet. 2011. PMID: 21397063 Free PMC article.
A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sèle B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF. Harbuz R, et al. Among authors: ray pf. Am J Hum Genet. 2011 Mar 11;88(3):351-61. doi: 10.1016/j.ajhg.2011.02.007. Am J Hum Genet. 2011. PMID: 21397064 Free PMC article.
MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, Vialard F, Satre V, Hennebicq S, Jouk PS, Arnoult C, Lunardi J, Ray PF. Coutton C, et al. Among authors: ray pf. Hum Reprod. 2012 Aug;27(8):2549-58. doi: 10.1093/humrep/des160. Epub 2012 May 24. Hum Reprod. 2012. PMID: 22627659
Identification of a new recurrent aurora kinase C mutation in both European and African men with macrozoospermia.
Ben Khelifa M, Coutton C, Blum MG, Abada F, Harbuz R, Zouari R, Guichet A, May-Panloup P, Mitchell V, Rollet J, Triki C, Merdassi G, Vialard F, Koscinski I, Viville S, Keskes L, Soulie JP, Rives N, Dorphin B, Lestrade F, Hesters L, Poirot C, Benzacken B, Jouk PS, Satre V, Hennebicq S, Arnoult C, Lunardi J, Ray PF. Ben Khelifa M, et al. Among authors: ray pf. Hum Reprod. 2012 Nov;27(11):3337-46. doi: 10.1093/humrep/des296. Epub 2012 Aug 11. Hum Reprod. 2012. PMID: 22888167
Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella.
Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF. Ben Khelifa M, et al. Among authors: ray pf. Am J Hum Genet. 2014 Jan 2;94(1):95-104. doi: 10.1016/j.ajhg.2013.11.017. Epub 2013 Dec 19. Am J Hum Genet. 2014. PMID: 24360805 Free PMC article.
144 results