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Non-invasive prenatal testing for trisomy 21 based on analysis of cell-free fetal DNA circulating in the maternal plasma.
Alberti A, Salomon LJ, Le Lorc'h M, Couloux A, Bussières L, Goupil S, Malan V, Pelletier E, Hyon C, Vialard F, Rozenberg P, Bouhanna P, Oury JF, Schmitz T, Romana S, Weissenbach J, Vekemans M, Ville Y. Alberti A, et al. Among authors: le lorc h m. Prenat Diagn. 2015 May;35(5):471-6. doi: 10.1002/pd.4561. Prenat Diagn. 2015. PMID: 25643828
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.
Malan V, Bussières L, Winer N, Jais JP, Baptiste A, Le Lorc'h M, Elie C, O'Gorman N, Fries N, Houfflin-Debarge V, Sentilhes L, Vekemans M, Ville Y, Salomon LJ; SAFE 21 Study Group. Malan V, et al. Among authors: le lorc h m. JAMA. 2018 Aug 14;320(6):557-565. doi: 10.1001/jama.2018.9396. JAMA. 2018. PMID: 30120476 Free PMC article. Clinical Trial.
Fetal karyotype from cystic hygroma fluid.
Ville Y, Borghi E, Pons JC, Lelorc'h M. Ville Y, et al. Prenat Diagn. 1992 Feb;12(2):139-43. doi: 10.1002/pd.1970120210. Prenat Diagn. 1992. PMID: 1553360
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Tran Mau-Them F, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF, Sanlaville D. Uguen K, et al. Mol Genet Genomic Med. 2020 Mar;8(3):e1114. doi: 10.1002/mgg3.1114. Epub 2020 Jan 27. Mol Genet Genomic Med. 2020. PMID: 31985172 Free PMC article.
A CGH study of 27 patients with CHARGE association.
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, Le Lorch M, Brisset S, Gosset P, Baumann C, Turleau C, Lyonnet S, Vekemans M. Sanlaville D, et al. Clin Genet. 2002 Feb;61(2):135-8. doi: 10.1034/j.1399-0004.2002.610208.x. Clin Genet. 2002. PMID: 11940088
[Preimplantation diagnosis with HLA typing: birth of the first double hope child in France].
Lamazou F, Steffann J, Frydman N, Burlet P, Gigarel N, Romana S, Bonnefont JP, Lelorch M, Hesters L, Fanchin R, Kerbrat V, Vekemans M, Munnich A, Frydman R. Lamazou F, et al. J Gynecol Obstet Biol Reprod (Paris). 2011 Nov;40(7):682-6. doi: 10.1016/j.jgyn.2011.08.007. Epub 2011 Sep 22. J Gynecol Obstet Biol Reprod (Paris). 2011. PMID: 21944578 Free article. French.
38 results