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Efficiency of prenatal diagnosis in Pierre Robin sequence.
Di Pasquo E, Amiel J, Roth P, Malan V, Lind K, Chalouhi C, Soupre V, Gordon CT, Lyonnet S, Salomon LJ, Abadie V. Di Pasquo E, et al. Among authors: lyonnet s. Prenat Diagn. 2017 Nov;37(11):1169-1175. doi: 10.1002/pd.5162. Epub 2017 Oct 26. Prenat Diagn. 2017. PMID: 28950416
Polyalanine expansions in human.
Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: lyonnet s. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. Hum Mol Genet. 2004. PMID: 15358730 Review.
Molecular bases of human neurocristopathies.
Etchevers HC, Amiel J, Lyonnet S. Etchevers HC, et al. Among authors: lyonnet s. Adv Exp Med Biol. 2006;589:213-34. doi: 10.1007/978-0-387-46954-6_14. Adv Exp Med Biol. 2006. PMID: 17076285 Review. No abstract available.
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Amiel J, Rio M, de Pontual L, Redon R, Malan V, Boddaert N, Plouin P, Carter NP, Lyonnet S, Munnich A, Colleaux L. Amiel J, et al. Among authors: lyonnet s. Am J Hum Genet. 2007 May;80(5):988-93. doi: 10.1086/515582. Epub 2007 Mar 23. Am J Hum Genet. 2007. PMID: 17436254 Free PMC article.
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S. Benko S, et al. Among authors: lyonnet s. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22. Nat Genet. 2009. PMID: 19234473
482 results