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127 results

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Page 1
Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.
Muroňová J, Kherraf ZE, Giordani E, Lambert E, Eckert S, Cazin C, Amiri-Yekta A, Court M, Chevalier G, Martinez G, Neirijnck Y, Kühne F, Wehrli L, Klena N, Hamel V, De Macedo L, Escoffier J, Guichard P, Coutton C, Mustapha SFB, Kharouf M, Bouin AP, Zouari R, Thierry-Mieg N, Nef S, Geimer S, Loeuillet C, Ray PF, Arnoult C. Muroňová J, et al. Among authors: coutton c. Elife. 2024 Mar 5;12:RP86845. doi: 10.7554/eLife.86845. Elife. 2024. PMID: 38441556 Free PMC article.
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. D'Angelo D, et al. JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123. JAMA Psychiatry. 2016. PMID: 26629640 Free PMC article.
Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
Martel C, Mollin M, Beaumel S, Brion JP, Coutton C, Satre V, Vieville G, Callanan M, Lefebvre C, Salmon A, Pagnier A, Plantaz D, Bost-Bru C, Eitenschenck L, Durieu I, Floret D, Galambrun C, Chambost H, Michel G, Stephan JL, Hermine O, Blanche S, Blot N, Rubié H, Pouessel G, Drillon-Haus S, Conrad B, Posfay-Barbe KM, Havlicekova Z, Voskresenky-Baricic T, Jadranka K, Arriazu MC, Garcia LA, Sfaihi L, Bordigoni P, Stasia MJ. Martel C, et al. Among authors: coutton c. J Clin Immunol. 2012 Oct;32(5):942-58. doi: 10.1007/s10875-012-9698-8. Epub 2012 May 5. J Clin Immunol. 2012. PMID: 22562447
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: coutton c. 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. Hum Reprod. 2012 Aug;27(8):2549-58. doi: 10.1093/humrep/des160. Epub 2012 May 24. Hum Reprod. 2012. PMID: 22627659
[Genetics of male infertility: the new players].
Coutton C, Satre V, Arnoult C, Ray P. Coutton C, et al. Med Sci (Paris). 2012 May;28(5):497-502. doi: 10.1051/medsci/2012285014. Epub 2012 May 30. Med Sci (Paris). 2012. PMID: 22643003 Free article. Review. French.
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: coutton c. Hum Reprod. 2012 Nov;27(11):3337-46. doi: 10.1093/humrep/des296. Epub 2012 Aug 11. Hum Reprod. 2012. PMID: 22888167
127 results