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Page 1
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: cabaret dufour as. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.
Bourgon N, Carmignac V, Sorlin A, Duffourd Y, Philippe C, Thauvin-Robinet C, Guibaud L, Faivre L, Vabres P, Kuentz P; Collaborators. Bourgon N, et al. Ultrasound Obstet Gynecol. 2022 Apr;59(4):532-542. doi: 10.1002/uog.23715. Epub 2022 Mar 10. Ultrasound Obstet Gynecol. 2022. PMID: 34170046 Free article.
Performance of diagnostic ultrasound to identify causes of hydramnios.
Adam MJ, Enderle I, Le Bouar G, Cabaret-Dufour AS, Tardif C, Contin L, Arnaud A, Proisy M, Jaillard S, Pasquier L, Le Lous M. Adam MJ, et al. Among authors: cabaret dufour as. Prenat Diagn. 2021 Jan;41(1):111-122. doi: 10.1002/pd.5825. Epub 2020 Nov 24. Prenat Diagn. 2021. PMID: 32920845 Free article.
[Reproductive health care for women with spina bifida].
Body-Bechou D, Cabaret-Dufour AS, Siproudhis L, Berkelmans I, Manunta A, Odent S, Jezequel M, Prestel A, Poulain P. Body-Bechou D, et al. Among authors: cabaret dufour as. Gynecol Obstet Fertil. 2015 Jul-Aug;43(7-8):522-7. doi: 10.1016/j.gyobfe.2015.05.002. Epub 2015 Jun 22. Gynecol Obstet Fertil. 2015. PMID: 26113168 French.