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Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, Heron D, Isidor B, Motte J, Newburry-Ecob R, Pasquier L, Tardieu M, Viot G, Jaubert F, Munnich A, Colleaux L, Vekemans M, Etchevers H, Lyonnet S, Amiel J. de Pontual L, et al. Among authors: rio m. Hum Mutat. 2009 Apr;30(4):669-76. doi: 10.1002/humu.20935. Hum Mutat. 2009. PMID: 19235238
A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.
Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A. Colleaux L, et al. Among authors: rio m. Eur J Hum Genet. 2001 May;9(5):319-27. doi: 10.1038/sj.ejhg.5200591. Eur J Hum Genet. 2001. PMID: 11378819
Spectrum of NSD1 mutations in Sotos and Weaver syndromes.
Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.
[Neurotrypsin mutations and mental retardation].
Molinari F, Rio M, Munnich A, Colleaux L. Molinari F, et al. Among authors: rio m. Med Sci (Paris). 2003 May;19(5):525-7. doi: 10.1051/medsci/2003195525. Med Sci (Paris). 2003. PMID: 12836380 Free article. French. No abstract available.
1,115 results