Briault S - Search Results

1

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.

2

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Laumonnier F, et al. Among authors: briault s. J Med Genet. 2005 Oct;42(10):780-6. doi: 10.1136/jmg.2004.029439. J Med Genet. 2005. PMID: 16199551 Free PMC article.

3

MECP2 is highly mutated in X-linked mental retardation.

Couvert P, Bienvenu T, Aquaviva C, Poirier K, Moraine C, Gendrot C, Verloes A, Andrès C, Le Fevre AC, Souville I, Steffann J, des Portes V, Ropers HH, Yntema HG, Fryns JP, Briault S, Chelly J, Cherif B. Couvert P, et al. Among authors: briault s. Hum Mol Genet. 2001 Apr 15;10(9):941-6. doi: 10.1093/hmg/10.9.941. Hum Mol Genet. 2001. PMID: 11309367

4

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

5

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.

6

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.

7

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, Moraine C. Briault S, et al. Am J Med Genet. 2000 Nov 13;95(2):178-81. doi: 10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v. Am J Med Genet. 2000. PMID: 11078572

8

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.

9

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.

10

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.

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