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Page 1
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S. Kott E, et al. Among authors: mitchell v. Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003. Am J Hum Genet. 2012. PMID: 23122589 Free PMC article.
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
Whitfield M, Thomas L, Bequignon E, Schmitt A, Stouvenel L, Montantin G, Tissier S, Duquesnoy P, Copin B, Chantot S, Dastot F, Faucon C, Barbotin AL, Loyens A, Siffroi JP, Papon JF, Escudier E, Amselem S, Mitchell V, Touré A, Legendre M. Whitfield M, et al. Among authors: mitchell v. Am J Hum Genet. 2019 Jul 3;105(1):198-212. doi: 10.1016/j.ajhg.2019.04.015. Epub 2019 Jun 6. Am J Hum Genet. 2019. PMID: 31178125 Free PMC article.
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella.
Thomas L, Bouhouche K, Whitfield M, Thouvenin G, Coste A, Louis B, Szymanski C, Bequignon E, Papon JF, Castelli M, Lemullois M, Dhalluin X, Drouin-Garraud V, Montantin G, Tissier S, Duquesnoy P, Copin B, Dastot F, Couvet S, Barbotin AL, Faucon C, Honore I, Maitre B, Beydon N, Tamalet A, Rives N, Koll F, Escudier E, Tassin AM, Touré A, Mitchell V, Amselem S, Legendre M. Thomas L, et al. Among authors: mitchell v. Am J Hum Genet. 2020 Feb 6;106(2):153-169. doi: 10.1016/j.ajhg.2019.12.010. Epub 2020 Jan 23. Am J Hum Genet. 2020. PMID: 31978331 Free PMC article.
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human.
Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzène T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lorès P, El Khouri E, Bottari SP, Fauré J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Touré A, Arnoult C, Ray PF. Coutton C, et al. Among authors: mitchell v. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.
[ICSI treatment in severe asthenozoospermia].
Mitchell V, Sigala J, Jumeau F, Ballot C, Peers MC, Decanter C, Rives N, Perdrix A, Rigot JM, Escalier D. Mitchell V, et al. Gynecol Obstet Fertil. 2012 Dec;40(12):776-9. doi: 10.1016/j.gyobfe.2012.10.003. Epub 2012 Nov 20. Gynecol Obstet Fertil. 2012. PMID: 23182233 Review. French.
Defining the human sperm microtubulome: an integrated genomics approach.
Jumeau F, Chalmel F, Fernandez-Gomez FJ, Carpentier C, Obriot H, Tardivel M, Caillet-Boudin ML, Rigot JM, Rives N, Buée L, Sergeant N, Mitchell V. Jumeau F, et al. Among authors: mitchell v. Biol Reprod. 2017 Jan 1;96(1):93-106. doi: 10.1095/biolreprod.116.143479. Biol Reprod. 2017. PMID: 28395323
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: mitchell v. Hum Reprod. 2012 Aug;27(8):2549-58. doi: 10.1093/humrep/des160. Epub 2012 May 24. Hum Reprod. 2012. PMID: 22627659
381 results