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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1999 1
2000 1
2003 4
2004 1
2005 1
2007 1
2011 3
2012 7
2013 7
2014 6
2015 3
2016 4
2017 5
2018 7
2019 5
2020 3
2021 3
2022 4
2023 7
2024 1

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65 results

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Page 1
Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Dacheux D, Martinez G, Broster Reix CE, Beurois J, Lores P, Tounkara M, Dupuy JW, Robinson DR, Loeuillet C, Lambert E, Wehbe Z, Escoffier J, Amiri-Yekta A, Daneshipour A, Hosseini SH, Zouari R, Mustapha SFB, Halouani L, Jiang X, Shen Y, Liu C, Thierry-Mieg N, Septier A, Bidart M, Satre V, Cazin C, Kherraf ZE, Arnoult C, Ray PF, Toure A, Bonhivers M, Coutton C. Dacheux D, et al. Among authors: satre v. Elife. 2023 Nov 7;12:RP87698. doi: 10.7554/eLife.87698. Elife. 2023. PMID: 37934199 Free PMC article.
Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.
Coudert A, Cazin C, Amiri-Yekta A, Fourati Ben Mustapha S, Zouari R, Bessonat J, Zoghmar A, Clergeau A, Metzler-Guillemain C, Triki C, Lejeune H, Sermondade N, Pipiras E, Prisant N, Cedrin I, Koscinski I, Keskes L, Lestrade F, Hesters L, Rives N, Dorphin B, Guichet A, Patrat C, Dulioust E, Feraille A, Robert F, Brouillet S, Morel F, Perrin A, Rougier N, Bieth E, Sorlin A, Siffroi JP, Ben Khelifa M, Boiterelle F, Hennebicq S, Satre V, Arnoult C, Coutton C, Barbotin AL, Thierry-Mieg N, Kherraf ZE, Ray PF. Coudert A, et al. Among authors: satre v. J Genet Genomics. 2023 Jul;50(7):536-540. doi: 10.1016/j.jgg.2023.04.007. Epub 2023 Apr 26. J Genet Genomics. 2023. PMID: 37116580 No abstract available.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: satre v. J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11. J Med Genet. 2023. PMID: 36368868
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Jouret G, Egloff M, Landais E, Tassy O, Giuliano F, Karmous-Benailly H, Coutton C, Satre V, Devillard F, Dieterich K, Vieville G, Kuentz P, le Caignec C, Beneteau C, Isidor B, Nizon M, Callier P, Marquet V, Bieth E, Lévy J, Tabet AC, Lyonnet S, Baujat G, Rio M, Cartault F, Scheidecker S, Gouronc A, Schalk A, Jacquin C, Spodenkiewicz M, Angélini C, Pennamen P, Rooryck C, Doco-Fenzy M, Poirsier C. Jouret G, et al. Among authors: satre v. Am J Med Genet A. 2023 Jan;191(1):52-63. doi: 10.1002/ajmg.a.62983. Epub 2022 Oct 5. Am J Med Genet A. 2023. PMID: 36196855
New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.
Martinez G, Barbotin AL, Cazin C, Wehbe Z, Boursier A, Amiri-Yekta A, Daneshipour A, Hosseini SH, Rives N, Feraille A, Thierry-Mieg N, Bidart M, Satre V, Arnoult C, Ray PF, Kherraf ZE, Coutton C. Martinez G, et al. Among authors: satre v. Int J Mol Sci. 2023 Jan 29;24(3):2559. doi: 10.3390/ijms24032559. Int J Mol Sci. 2023. PMID: 36768883 Free PMC article.
[Genetics of male infertility: the new players].
Coutton C, Satre V, Arnoult C, Ray P. Coutton C, et al. Among authors: satre v. 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.
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
Sy MR, Chauhan J, Prescott K, Imam A, Kraus A, Beleza A, Salkeld L, Hosdurga S, Parker M, Vasudevan P, Islam L, Goel H, Bain N, Park SM, Mohammed S, Dieterich K, Coutton C, Satre V, Vieville G, Donaldson A, Beneteau C, Ghoumid J, Van Den Bogaert K, Boogaerts A, Boudry E, Vanlerberghe C, Petit F, Bernardini L, Torres B, Mattina T, Carli D, Mandrile G, Pinelli M, Brunetti-Pierri N, Neas K, Beddow R, Tørring PM, Faletra F, Spedicati B, Gasparini P, Mussa A, Ferrero GB, Lampe A, Lam W, Bi W, Bacino CA, Kuwahara A, Bush JO, Zhao X, Luna PN, Shaw CA, Rosenfeld JA, Scott DA. Sy MR, et al. Among authors: satre v. Am J Med Genet A. 2022 Dec;188(12):3492-3504. doi: 10.1002/ajmg.a.62976. Epub 2022 Sep 22. Am J Med Genet A. 2022. PMID: 36135330 Free PMC article.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Jedraszak G, Jobic F, Receveur A, Bilan F, Gilbert-Dussardier B, Tiffany B, Missirian C, Willems M, Odent S, Lucas J, Dubourg C, Schaefer E, Scheidecker S, Lespinasse J, Goldenberg A, Guerrot AM, Joly-Helas G, Chambon P, Le Caignec C, David A, Coutton C, Satre V, Vieville G, Amblard F, Harbuz R, Sanlaville D, Till M, Vincent-Delorme C, Colson C, Andrieux J, Naudion S, Toutain J, Rooryck C, de Fréminville B, Prieur F, Daire VC, Amram D, Kleinfinger P, Schulze MB, Raabe-Meyer G, Courage C, Lemke J, Stefanou EG, Loretta T, Emmanouil M, Tzeli SK, Sodowska H, Anderson J, Nandini A, Copin H, Garçon L, Liehr T, Morin G. Jedraszak G, et al. Among authors: satre v. Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16. Am J Med Genet A. 2024. PMID: 37974505
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Shen Q, Martinez G, Liu H, Beurois J, Wu H, Amiri-Yekta A, Liang D, Kherraf ZE, Bidart M, Cazin C, Celse T, Satre V, Thierry-Mieg N, Whitfield M, Touré A, Song B, Lv M, Li K, Liu C, Tao F, He X, Zhang F, Arnoult C, Ray PF, Cao Y, Coutton C. Shen Q, et al. Among authors: satre v. Hum Genet. 2021 Sep;140(9):1367-1377. doi: 10.1007/s00439-021-02313-z. Epub 2021 Jul 13. Hum Genet. 2021. PMID: 34255152
65 results