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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: vazquez mp. Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22. Nat Genet. 2009. PMID: 19234473
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J. Gordon CT, et al. Among authors: vazquez mp. J Med Genet. 2013 Mar;50(3):174-86. doi: 10.1136/jmedgenet-2012-101331. Epub 2013 Jan 12. J Med Genet. 2013. PMID: 23315542
Orofacial motor dysfunction in Moebius syndrome.
Renault F, Flores-Guevara R, Baudon JJ, Sergent B, Charpillet V, Denoyelle F, Thierry B, Amiel J, Gitiaux C, Vazquez MP. Renault F, et al. Among authors: vazquez mp. Dev Med Child Neurol. 2020 Apr;62(4):521-527. doi: 10.1111/dmcn.14379. Epub 2019 Nov 12. Dev Med Child Neurol. 2020. PMID: 31713842 Free article.
Pierre Robin sequence and interstitial deletion 2q32.3-q33.2.
Houdayer C, Portnoï MF, Vialard F, Soupre V, Crumière C, Taillemite JL, Couderc R, Vazquez MP, Bahuau M. Houdayer C, et al. Among authors: vazquez mp. Am J Med Genet. 2001 Aug 15;102(3):219-26. doi: 10.1002/ajmg.1448. Am J Med Genet. 2001. PMID: 11484197
Predictors of speech outcomes in children with Pierre Robin sequence.
Morice A, Renault F, Soupre V, Chapuis C, Trichet Zbinden C, Kadlub N, Giudice A, Vazquez MP, Picard A. Morice A, et al. Among authors: vazquez mp. J Craniomaxillofac Surg. 2018 Mar;46(3):479-484. doi: 10.1016/j.jcms.2017.12.004. Epub 2017 Dec 13. J Craniomaxillofac Surg. 2018. PMID: 29317143
163 results