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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
Congenital heart defects in patients with deletions upstream of SOX9.
Sanchez-Castro M, Gordon CT, Petit F, Nord AS, Callier P, Andrieux J, Guérin P, Pichon O, David A, Abadie V, Bonnet D, Visel A, Pennacchio LA, Amiel J, Lyonnet S, Le Caignec C. Sanchez-Castro M, et al. Among authors: lyonnet s. Hum Mutat. 2013 Dec;34(12):1628-31. doi: 10.1002/humu.22449. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24115316
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S. Gordon CT, et al. Among authors: lyonnet s. Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606. Hum Mutat. 2014. PMID: 24934569 Free PMC article.
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
488 results