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Page 1
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: lores p. Nat Commun. 2018 Feb 15;9(1):686. doi: 10.1038/s41467-017-02792-7. Nat Commun. 2018. PMID: 29449551 Free PMC article.
Absence of annulus in human asthenozoospermia: case report.
Lhuillier P, Rode B, Escalier D, Lorès P, Dirami T, Bienvenu T, Gacon G, Dulioust E, Touré A. Lhuillier P, et al. Among authors: lores p. Hum Reprod. 2009 Jun;24(6):1296-303. doi: 10.1093/humrep/dep020. Epub 2009 Feb 15. Hum Reprod. 2009. PMID: 19221096
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.
El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S. El Khouri E, et al. Among authors: lores p. Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022. Am J Hum Genet. 2016. PMID: 27486783 Free PMC article.
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A. Lorès P, et al. Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034. Hum Mol Genet. 2018. PMID: 29365104 Clinical Trial.
Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.
Dong FN, Amiri-Yekta A, Martinez G, Saut A, Tek J, Stouvenel L, Lorès P, Karaouzène T, Thierry-Mieg N, Satre V, Brouillet S, Daneshipour A, Hosseini SH, Bonhivers M, Gourabi H, Dulioust E, Arnoult C, Touré A, Ray PF, Zhao H, Coutton C. Dong FN, et al. Among authors: lores p. Am J Hum Genet. 2018 Apr 5;102(4):636-648. doi: 10.1016/j.ajhg.2018.03.007. Am J Hum Genet. 2018. PMID: 29606301 Free PMC article.
Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction.
Petre G, Lorès P, Sartelet H, Truffot A, Poreau B, Brandeis S, Martinez G, Satre V, Harbuz R, Ray PF, Amblard F, Devillard F, Vieville G, Berger F, Jouk PS, Vaiman D, Touré A, Coutton C, Bidart M. Petre G, et al. Among authors: lores p. Clin Genet. 2018 Dec;94(6):575-580. doi: 10.1111/cge.13449. Epub 2018 Oct 17. Clin Genet. 2018. PMID: 30221343
Corrigendum: Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.
Lorès P, Coutton C, Khouri EE, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A. Lorès P, et al. Hum Mol Genet. 2019 Mar 15;28(6):1052. doi: 10.1093/hmg/ddy368. Hum Mol Genet. 2019. PMID: 30517620 No abstract available.
43 results