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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: le bouar g. 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.
Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect.
Jaillard S, Loget P, Lucas J, Dubourg C, Le Bouar G, Demurger F, Bertorello I, David V, Poulain P, Odent S, Belaud-Rotureau MA. Jaillard S, et al. Among authors: le bouar g. Eur J Med Genet. 2011 Mar-Apr;54(2):186-8. doi: 10.1016/j.ejmg.2010.11.001. Epub 2010 Nov 27. Eur J Med Genet. 2011. PMID: 21115145
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S. Mary L, et al. Among authors: le bouar g. Eur J Med Genet. 2022 Feb;65(2):104422. doi: 10.1016/j.ejmg.2022.104422. Epub 2022 Jan 10. Eur J Med Genet. 2022. PMID: 35026468 Free article. Review.
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA. Mary L, et al. Among authors: le bouar g. Eur J Med Genet. 2023 Jun;66(6):104748. doi: 10.1016/j.ejmg.2023.104748. Epub 2023 Mar 21. Eur J Med Genet. 2023. PMID: 36948288 Free article. Review.
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: le bouar g, le lous m. Prenat Diagn. 2021 Jan;41(1):111-122. doi: 10.1002/pd.5825. Epub 2020 Nov 24. Prenat Diagn. 2021. PMID: 32920845 Free article.
Elucidating in utero fetal demise: time to reassemble the pieces of the puzzle?
Belhomme N, Lescoat A, Ballerie A, Rouget F, Le Bouar G, Loget P, Caillault L, Jego P. Belhomme N, et al. Among authors: le bouar g. J Matern Fetal Neonatal Med. 2020 Nov;33(21):3720-3722. doi: 10.1080/14767058.2019.1580262. Epub 2019 Feb 18. J Matern Fetal Neonatal Med. 2020. PMID: 30775945 Free article. No abstract available.
Congenital diaphragmatic hernia: prenatal diagnosis permits immediate intensive care with high survival rate in isolated cases. A population-based study.
Bétrémieux P, Gaillot T, de la Pintière A, Beuchée A, Pasquier L, Habonimana E, Le Bouar G, Branger B, Milon J, Frémond B, Wodey E, Odent S, Poulain P, Pladys P. Bétrémieux P, et al. Among authors: le bouar g. Prenat Diagn. 2004 Jul;24(7):487-93. doi: 10.1002/pd.909. Prenat Diagn. 2004. PMID: 15300735
42 results