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Non-invasive prenatal testing: what are we missing?
Fries N, Le Garrec S, Egloff M, Sault C, Dreux S, Mangione R, Salomon LJ, Ville Y. Fries N, et al. Among authors: egloff m. Ultrasound Obstet Gynecol. 2021 Feb;57(2):345-346. doi: 10.1002/uog.22005. Ultrasound Obstet Gynecol. 2021. PMID: 32119166 Free article. No abstract available.
17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
Egloff M, Encha-Razavi F, Garel C, Bonnière-Darcy M, Millischer AE, Lapierre JM, Fontaine S, de Blois MC, Vekemans M, Turleau C, Ville Y, Malan V. Egloff M, et al. Cytogenet Genome Res. 2014;144(3):178-82. doi: 10.1159/000369117. Epub 2014 Nov 15. Cytogenet Genome Res. 2014. PMID: 25402493
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Malan V, Lapierre JM, Egloff M, Goidin D, Beaujard MP, Maurin ML, Attié-Bitach T, Bessières B, Bernard JP, Roth P, Stirnemann J, Salomon L, Romana S, Vekemans M, Ville Y, Turleau C. Malan V, et al. Among authors: egloff m. Cytogenet Genome Res. 2015;147(2-3):103-10. doi: 10.1159/000442904. Epub 2016 Jan 7. Cytogenet Genome Res. 2015. PMID: 26735902
Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study.
Egloff M, Hervé B, Quibel T, Jaillard S, Le Bouar G, Uguen K, Saliou AH, Valduga M, Perdriolle E, Coutton C, Coston AL, Coussement A, Anselem O, Missirian C, Bretelle F, Prieur F, Fanget C, Muti C, Jacquemot MC, Beneteau C, Le Vaillant C, Vekemans M, Salomon LJ, Vialard F, Malan V. Egloff M, et al. Ultrasound Obstet Gynecol. 2018 Dec;52(6):715-721. doi: 10.1002/uog.18928. Ultrasound Obstet Gynecol. 2018. PMID: 29027723 Free article.
SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Hureaux M, Ben Miled S, Chatron N, Coussement A, Bessières B, Egloff M, Mechler C, Stirnemann J, Tsatsaris V, Barcia G, Turleau C, Ville Y, Encha-Razavi F, Attie-Bitach T, Malan V. Hureaux M, et al. Among authors: egloff m. Prenat Diagn. 2019 Oct;39(11):1026-1034. doi: 10.1002/pd.5523. Epub 2019 Aug 9. Prenat Diagn. 2019. PMID: 31299102
Reply.
Egloff M, Malan V. Egloff M, et al. Ultrasound Obstet Gynecol. 2019 Apr;53(4):555. doi: 10.1002/uog.20253. Ultrasound Obstet Gynecol. 2019. PMID: 30938480 Free article. No abstract available.
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: egloff m. 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
130 results