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Year Number of Results
2006 1
2015 1
2016 2
2017 1
2019 1
2020 2
2021 1
2022 3
2023 1
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11 results
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Page 1
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J. Testard Q, et al. Among authors: marquet v. J Med Genet. 2022 Dec;59(12):1234-1240. doi: 10.1136/jmg-2022-108439. Epub 2022 Sep 22. J Med Genet. 2022. PMID: 36137615
Telomere aberrations, including telomere loss, doublets, and extreme shortening, are increased in patients with infertility.
M'kacher R, Colicchio B, Marquet V, Borie C, Najar W, Hempel WM, Heidingsfelder L, Oudrhiri N, Al Jawhari M, Wilhelm-Murer N, Miguet M, Dieterlen A, Deschênes G, Tabet AC, Junker S, Grynberg M, Fenech M, Bennaceur-Griscelli A, Voisin P, Carde P, Jeandidier E, Yardin C. M'kacher R, et al. Among authors: marquet v. Fertil Steril. 2021 Jan;115(1):164-173. doi: 10.1016/j.fertnstert.2020.07.005. Epub 2020 Dec 4. Fertil Steril. 2021. PMID: 33272625 Free article.
Telomere and Centromere Staining Followed by M-FISH Improves Diagnosis of Chromosomal Instability and Its Clinical Utility.
M'kacher R, Colicchio B, Borie C, Junker S, Marquet V, Heidingsfelder L, Soehnlen K, Najar W, Hempel WM, Oudrhiri N, Wilhelm-Murer N, Miguet M, Arnoux M, Ferrapie C, Kerbrat W, Plesch A, Dieterlen A, Girinsky T, Voisin P, Deschenes G, Tabet AC, Yardin C, Bennaceur-Griscelli A, Fenech M, Carde P, Jeandidier E. M'kacher R, et al. Among authors: marquet v. Genes (Basel). 2020 Apr 27;11(5):475. doi: 10.3390/genes11050475. Genes (Basel). 2020. PMID: 32349350 Free PMC article.
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: marquet 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
Meiotic pairing and gene expression disturbance in germ cells from an infertile boar with a balanced reciprocal autosome-autosome translocation.
Barasc H, Congras A, Mary N, Trouilh L, Marquet V, Ferchaud S, Raymond-Letron I, Calgaro A, Loustau-Dudez AM, Mouney-Bonnet N, Acloque H, Ducos A, Pinton A. Barasc H, et al. Among authors: marquet v. Chromosome Res. 2016 Dec;24(4):511-527. doi: 10.1007/s10577-016-9533-9. Epub 2016 Aug 2. Chromosome Res. 2016. PMID: 27484982 Free PMC article.
11 results