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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: belaud rotureau ma. 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.
MLL-SEPT5 fusion transcript in infant acute myeloid leukemia with t(11;22)(q23;q11).
Launay E, Henry C, Meyer C, Chappé C, Taque S, Boulland ML, Ben Abdelali R, Dugay F, Marschalek R, Bastard C, Fest T, Gandemer V, Belaud-Rotureau MA. Launay E, et al. Leuk Lymphoma. 2014 Mar;55(3):662-7. doi: 10.3109/10428194.2013.809528. Epub 2013 Aug 20. Leuk Lymphoma. 2014. PMID: 23725386 Review.
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. 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
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.
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.
El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A. El Khattabi L, et al. Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Am J Med Genet A. 2015. PMID: 25847481 Free article. Review.
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. 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
84 results