Briault S - Search Results

1

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

2

X-linked mental retardation exhibiting linkage to DXS255 and PGKP1: a new MRX family (MRX14) with localization in the pericentromeric region.

Gendrot C, Ronce N, Toutain A, Moizard MP, Müh JP, Raynaud M, Dourlens J, Briault S, Moraine C. Gendrot C, et al. Among authors: briault s. Clin Genet. 1994 Mar;45(3):145-53. doi: 10.1111/j.1399-0004.1994.tb04012.x. Clin Genet. 1994. PMID: 8026106

3

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

4

Trisomy X: ACLF (Association des Cytogénéticiens de Langue Française) retrospective study.

Guichet A, Briault S, Moraine C, Turleau C. Guichet A, et al. Among authors: briault s. Ann Genet. 1996;39(3):117-22. Ann Genet. 1996. PMID: 8839882 Review.

5

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

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

A gene for FG syndrome maps in the Xq12-q21.31 region.

Briault S, Hill R, Shrimpton A, Zhu D, Till M, Ronce N, Margaritte-Jeannin P, Baraitser M, Middleton-Price H, Malcolm S, Thompson E, Hoo J, Wilson G, Romano C, Guichet A, Pembrey M, Fontes M, Poustka A, Moraine C. Briault S, et al. Am J Med Genet. 1997 Nov 28;73(1):87-90. Am J Med Genet. 1997. PMID: 9375929

10

Systematic analysis of X-inactivation in 19XLMR families: extremely skewed profiles in carriers in three families.

Raynaud M, Moizard MP, Dessay B, Briault S, Toutain A, Gendrot C, Ronce N, Moraine C. Raynaud M, et al. Among authors: briault s. Eur J Hum Genet. 2000 Apr;8(4):253-8. doi: 10.1038/sj.ejhg.5200437. Eur J Hum Genet. 2000. PMID: 10854107

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