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Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Capron C, Januel L, Vieville G, Jaillard S, Kuentz P, Salaun G, Nadeau G, Clement P, Brechard MP, Herve B, Dupont JM, Gruchy N, Chambon P, Abdelhedi F, Dahlen E, Vago P, Harbuz R, Plotton I, Coutton C, Belaud-Rotureau MA, Schluth-Bolard C, Vialard F. Capron C, et al. Among authors: jaillard s. Andrology. 2022 Nov;10(8):1625-1631. doi: 10.1111/andr.13279. Epub 2022 Sep 7. Andrology. 2022. PMID: 36026611 Free article.
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Schluth-Bolard C, Delobel B, Sanlaville D, Boute O, Cuisset JM, Sukno S, Labalme A, Duban-Bedu B, Plessis G, Jaillard S, Dubourg C, Henry C, Lucas J, Odent S, Pasquier L, Copin H, Latour P, Cordier MP, Nadeau G, Till M, Edery P, Andrieux J. Schluth-Bolard C, et al. Among authors: jaillard s. Eur J Med Genet. 2009 Sep-Oct;52(5):291-6. doi: 10.1016/j.ejmg.2009.05.011. Epub 2009 Jun 6. Eur J Med Genet. 2009. PMID: 19505601 Free article.
Involvement of germline DDX1-MYCN duplication in inherited nephroblastoma.
Fievet A, Belaud-Rotureau MA, Dugay F, Abadie C, Henry C, Taque S, Andrieux J, Guyetant S, Robert M, Dubourg C, Edan C, Rioux-Leclercq N, Odent S, Jaillard S. Fievet A, et al. Among authors: jaillard s. Eur J Med Genet. 2013 Dec;56(12):643-7. doi: 10.1016/j.ejmg.2013.10.004. Epub 2013 Oct 24. Eur J Med Genet. 2013. PMID: 24161495
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases.
Gruchy N, Vialard F, Blondeel E, Le Meur N, Joly-Hélas G, Chambon P, Till M, Herbaut-Graux M, Vigouroux-Castera A, Coussement A, Lespinasse J, Amblard F, Jimenez M, Lebel Roy Camille L, Carré-Pigeon F, Flori E, Mugneret F, Jaillard S, Yardin C, Harbuz R, Collonge Rame M, Vago P, Valduga M, Leporrier N. Gruchy N, et al. Among authors: jaillard s. Prenat Diagn. 2014 Dec;34(12):1133-8. doi: 10.1002/pd.4439. Epub 2014 Jul 22. Prenat Diagn. 2014. PMID: 24961405
Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.
Jaillard S, Bashamboo A, Pasquier L, Belaud-Rotureau MA, McElreavey K, Odent S, Ravel C. Jaillard S, et al. J Assist Reprod Genet. 2015 Feb;32(2):287-91. doi: 10.1007/s10815-014-0383-0. Epub 2014 Nov 12. J Assist Reprod Genet. 2015. PMID: 25388168 Free PMC article. No abstract available.
Karyotype is not dead (yet)!
Pasquier L, Fradin M, Chérot E, Martin-Coignard D, Colin E, Journel H, Demurger F, Akloul L, Quélin C, Jauffret V, Lucas J, Belaud-Rotureau MA, Odent S, Jaillard S. Pasquier L, et al. Among authors: jaillard s. Eur J Med Genet. 2016 Jan;59(1):11-5. doi: 10.1016/j.ejmg.2015.11.016. Epub 2015 Dec 10. Eur J Med Genet. 2016. PMID: 26691665
128 results