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Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.
Lirussi F, Jonard L, Gaston V, Sanlaville D, Kooy RF, Winnepenninckx B, Maher ER, Fitzpatrick DR, Gicquel C, Portnoï MF, Couderc R, Vazquez MP, Bahuau M. Lirussi F, et al. Among authors: vazquez mp. Am J Med Genet A. 2007 Dec 1;143A(23):2796-803. doi: 10.1002/ajmg.a.31768. Am J Med Genet A. 2007. PMID: 17994567
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
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
Interhemispheric lipoma associated with frontal subcutaneous lipoma.
Mitilian D, Haddad D, Lenoir M, Boudjemaa S, Vazquez MP, Picard A. Mitilian D, et al. Among authors: vazquez mp. J Plast Reconstr Aesthet Surg. 2009 Nov;62(11):e427-9. doi: 10.1016/j.bjps.2008.06.072. Epub 2008 Nov 17. J Plast Reconstr Aesthet Surg. 2009. PMID: 19010104
163 results