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Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Courdier C, Boudjarane J, Malan V, Muti C, Sperelakis-Beedham B, Odent S, Jaillard S, Quelin C, Le Caignec C, Patat O, Dubucs C, Julia S, Schluth-Bolard C, Goumy C, Redon S, Gaillard JB, Huynh MT, Dupont C, Tabet AC, Cogan G, Vialard F, Dard R, Jedraszak G, Jobic F, Lefebvre M, Quenum G, Inai S, Rama M, Sauvestre F, Coatleven F, Thomas J, Rooryck C. Courdier C, et al. Among authors: goumy c. Prenat Diagn. 2023 Jun;43(6):734-745. doi: 10.1002/pd.6340. Epub 2023 Mar 23. Prenat Diagn. 2023. PMID: 36914926 Free article.
Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?
Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C. Moradkhani K, et al. Among authors: goumy c. Prenat Diagn. 2019 Oct;39(11):986-992. doi: 10.1002/pd.5518. Epub 2019 Aug 19. Prenat Diagn. 2019. PMID: 31273809 Free article.
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Lesieur-Sebellin M, et al. Among authors: goumy c. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
Prenatal ultrasound diagnosis of a 48,XXYY syndrome.
Kemeny S, Pebrel-Richard C, Gouas L, Veronese L, Lemery D, Tchirkov A, Goumy C, Vago P. Kemeny S, et al. Among authors: goumy c. Morphologie. 2013 Jun;97(317):65-7. doi: 10.1016/j.morpho.2013.01.001. Epub 2013 Mar 7. Morphologie. 2013. PMID: 23473874
Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.
Debost-Legrand A, Goumy C, Laurichesse-Delmas H, Déchelotte P, Beaufrère AM, Lémery D, Francannet C, Gallot D. Debost-Legrand A, et al. Among authors: goumy c. Birth Defects Res A Clin Mol Teratol. 2013 Dec;97(12):806-11. doi: 10.1002/bdra.23194. Epub 2013 Nov 6. Birth Defects Res A Clin Mol Teratol. 2013. PMID: 24343879
Prenatal diagnosis of the VACTERL association using routine ultrasound examination.
Debost-Legrand A, Goumy C, Laurichesse-Delmas H, Déchelotte P, Perthus I, Francannet C, Lémery D, Gallot D. Debost-Legrand A, et al. Among authors: goumy c. Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):880-6. doi: 10.1002/bdra.23346. Epub 2015 Jun 2. Birth Defects Res A Clin Mol Teratol. 2015. PMID: 26033534
Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.
Mourgues C, Eymard-Pierre E, Laurichesse-Delmas H, Gerbaud L, Gouas L, Pébrel-Richard C, Vago P, Debost-Legrand A, Goumy C. Mourgues C, et al. Among authors: goumy c. Ann Biol Clin (Paris). 2020 Oct 1;78(5):483-491. doi: 10.1684/abc.2020.1580. Ann Biol Clin (Paris). 2020. PMID: 32933889 Free article.
48 results