Briault S - Search Results

1

Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.

Pop R, Conz C, Lindenberg KS, Blesson S, Schmalenberger B, Briault S, Pfeifer D, Scherer G. Pop R, et al. Among authors: briault s. J Med Genet. 2004 Apr;41(4):e47. doi: 10.1136/jmg.2003.013185. J Med Genet. 2004. PMID: 15060123 Free PMC article. No abstract available.

2

Prenatal diagnosis of trisomy 21 by i(21q): a rare case of fetoplacental chromosomal discrepancy.

Gilardi JL, Perrotin F, Paillet C, Blesson S, Cave H, Briault S, Moraine C. Gilardi JL, et al. Among authors: briault s. Prenat Diagn. 2002 Oct;22(10):856-8. doi: 10.1002/pd.425. Prenat Diagn. 2002. PMID: 12378564

3

MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlation.

Gomot M, Gendrot C, Verloes A, Raynaud M, David A, Yntema HG, Dessay S, Kalscheuer V, Frints S, Couvert P, Briault S, Blesson S, Toutain A, Chelly J, Desportes V, Moraine C. Gomot M, et al. Among authors: briault s. Am J Med Genet A. 2003 Dec 1;123A(2):129-39. doi: 10.1002/ajmg.a.20247. Am J Med Genet A. 2003. PMID: 14598336

4

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.

Veltman JA, Yntema HG, Lugtenberg D, Arts H, Briault S, Huys EH, Osoegawa K, de Jong P, Brunner HG, Geurts van Kessel A, van Bokhoven H, Schoenmakers EF. Veltman JA, et al. Among authors: briault s. J Med Genet. 2004 Jun;41(6):425-32. doi: 10.1136/jmg.2004.018531. J Med Genet. 2004. PMID: 15173227 Free PMC article. No abstract available.

5

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.

Laumonnier F, Shoubridge C, Antar C, Nguyen LS, Van Esch H, Kleefstra T, Briault S, Fryns JP, Hamel B, Chelly J, Ropers HH, Ronce N, Blesson S, Moraine C, Gécz J, Raynaud M. Laumonnier F, et al. Among authors: briault s. Mol Psychiatry. 2010 Jul;15(7):767-76. doi: 10.1038/mp.2009.14. Epub 2009 Feb 24. Mol Psychiatry. 2010. PMID: 19238151

6

FG syndrome: linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3].

Dessay S, Moizard MP, Gilardi JL, Opitz JM, Middleton-Price H, Pembrey M, Moraine C, Briault S. Dessay S, et al. Among authors: briault s. Am J Med Genet. 2002 Sep 15;112(1):6-11. doi: 10.1002/ajmg.10546. Am J Med Genet. 2002. PMID: 12239712 Review.

7

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S. Laumonnier F, et al. Among authors: briault s. Am J Hum Genet. 2002 Dec;71(6):1450-5. doi: 10.1086/344661. Epub 2002 Nov 8. Am J Hum Genet. 2002. PMID: 12428212 Free PMC article.

8

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.

Laumonnier F, Bonnet-Brilhault F, Gomot M, Blanc R, David A, Moizard MP, Raynaud M, Ronce N, Lemonnier E, Calvas P, Laudier B, Chelly J, Fryns JP, Ropers HH, Hamel BC, Andres C, Barthélémy C, Moraine C, Briault S. Laumonnier F, et al. Among authors: briault s. Am J Hum Genet. 2004 Mar;74(3):552-7. doi: 10.1086/382137. Epub 2004 Feb 12. Am J Hum Genet. 2004. PMID: 14963808 Free PMC article.

9

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. Raynaud M, et al. Among authors: briault s. Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826458

10

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

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