Briault S - Search Results

1

Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation.

Molinari F, Rio M, Meskenaite V, Encha-Razavi F, Augé J, Bacq D, Briault S, Vekemans M, Munnich A, Attié-Bitach T, Sonderegger P, Colleaux L. Molinari F, et al. Among authors: briault s. Science. 2002 Nov 29;298(5599):1779-81. doi: 10.1126/science.1076521. Science. 2002. PMID: 12459588

2

Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation.

Laumonnier F, Roger S, Guérin P, Molinari F, M'rad R, Cahard D, Belhadj A, Halayem M, Persico AM, Elia M, Romano V, Holbert S, Andres C, Chaabouni H, Colleaux L, Constant J, Le Guennec JY, Briault S. Laumonnier F, et al. Among authors: briault s. Am J Psychiatry. 2006 Sep;163(9):1622-9. doi: 10.1176/ajp.2006.163.9.1622. Am J Psychiatry. 2006. PMID: 16946189

3

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Attié-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S. Baala L, et al. Among authors: briault s. Nat Genet. 2007 Apr;39(4):454-6. doi: 10.1038/ng1993. Epub 2007 Mar 11. Nat Genet. 2007. PMID: 17353897

4

Evidence for a new X-linked mental retardation gene in Xp21-Xp22: clinical and molecular data in one family.

Ronce N, Raynaud M, Toutain A, Moizard MP, Colleaux L, Gendrot C, Briault S, Moraine C. Ronce N, et al. Among authors: briault s. Am J Med Genet. 1999 Mar 12;83(2):132-7. doi: 10.1002/(sici)1096-8628(19990312)83:2<132::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1999. PMID: 10190484

5

Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, Gecz J. Villard L, et al. Among authors: briault s. J Med Genet. 1999 Oct;36(10):754-8. doi: 10.1136/jmg.36.10.754. J Med Genet. 1999. PMID: 10528854 Free PMC article.

6

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

Briault S, Odent S, Lucas J, Le Merrer M, Turleau C, Munnich A, Moraine C. Briault S, et al. Am J Med Genet. 1999 Sep 10;86(2):112-4. doi: 10.1002/(sici)1096-8628(19990910)86:2<112::aid-ajmg4>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10449643

7

Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.

Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Among authors: briault s. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072

8

Exclusion of nine candidate genes for their involvement in X-linked FG syndrome (FGS1) in three families.

Lossi AM, Colleaux L, Chiaroni P, Fontes M, Villard L, Abidi F, Schwartz C, Briault S, Moraine C. Lossi AM, et al. Among authors: briault s. Am J Med Genet. 2000 Oct 23;94(5):386-8. doi: 10.1002/1096-8628(20001023)94:5<386::aid-ajmg8>3.0.co;2-1. Am J Med Genet. 2000. PMID: 11050623 No abstract available.

9

Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.

Daoud H, Gruchy N, Constans JM, Moussaoui E, Saumureau S, Bayou N, Amy M, Védrine S, Vu PY, Rötig A, Laumonnier F, Vourc'h P, Andres CR, Leporrier N, Briault S. Daoud H, et al. Among authors: briault s. Hum Genet. 2009 Jan;124(6):649-58. doi: 10.1007/s00439-008-0588-3. Epub 2008 Nov 16. Hum Genet. 2009. PMID: 19011903

10

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

Houdayer CI, Toutain A, Ronce N, Lefort G, Sarda P, Taib J, Briault S, Lambert JC, Moraine CI. Houdayer CI, et al. Among authors: briault s. Ann Genet. 1993;36(4):194-9. Ann Genet. 1993. PMID: 8166423

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