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Page 1
Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.
Moutton S, Fergelot P, Naudion S, Cordier MP, Solé G, Guerineau E, Hubert C, Rooryck C, Vuillaume ML, Houcinat N, Deforges J, Bouron J, Devès S, Le Merrer M, David A, Geneviève D, Giuliano F, Journel H, Megarbane A, Faivre L, Chassaing N, Francannet C, Sarrazin E, Stattin EL, Vigneron J, Leclair D, Abadie C, Sarda P, Baumann C, Delrue MA, Arveiler B, Lacombe D, Goizet C, Coupry I. Moutton S, et al. Among authors: delrue ma. J Hum Genet. 2016 Aug;61(8):693-9. doi: 10.1038/jhg.2016.37. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193221
Costello syndrome and neurological abnormalities.
Delrue MA, Chateil JF, Arveiler B, Lacombe D. Delrue MA, et al. Am J Med Genet A. 2003 Dec 15;123A(3):301-5. doi: 10.1002/ajmg.a.20330. Am J Med Genet A. 2003. PMID: 14608654 Review.
Behavioral and temperamental features of children with Costello syndrome.
Galéra C, Delrue MA, Goizet C, Etchegoyhen K, Taupiac E, Sigaudy S, Arveiler B, Philip N, Bouvard M, Lacombe D. Galéra C, et al. Among authors: delrue ma. Am J Med Genet A. 2006 May 1;140(9):968-74. doi: 10.1002/ajmg.a.31169. Am J Med Genet A. 2006. PMID: 16575889
Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, Marche M, Bonnet F, Gorry P, Longy M, Lacombe D, Coupry I, Arveiler B. Stef M, et al. Among authors: delrue ma. Eur J Hum Genet. 2007 Aug;15(8):843-7. doi: 10.1038/sj.ejhg.5201847. Epub 2007 May 2. Eur J Hum Genet. 2007. PMID: 17473832
A new case of VACTERL association with unilateral amelia of upper limb.
Pelluard-Nehmé F, Baudet C, Carles D, Alberti EM, Delrue MA, Lacombe D. Pelluard-Nehmé F, et al. Among authors: delrue ma. Clin Dysmorphol. 2007 Jul;16(3):185-187. doi: 10.1097/MCD.0b013e3280fa81f1. Clin Dysmorphol. 2007. PMID: 17551334 No abstract available.
Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome.
Galéra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, Delrue MA, Arveiler B, Lacombe D, Bouvard MP. Galéra C, et al. Among authors: delrue ma. J Autism Dev Disord. 2009 Sep;39(9):1252-60. doi: 10.1007/s10803-009-0733-4. Epub 2009 Apr 7. J Autism Dev Disord. 2009. PMID: 19350377
77 results