Rousseau F - Search Results

1

9th international workshop on fragile X syndrome and X-linked mental retardation.

Fryns JP, Borghgraef M, Brown TW, Chelly J, Fisch GS, Hamel B, Hanauer A, Lacombe D, Luo L, MacPherson JN, Mandel JL, Moraine C, Mulley J, Nelson D, Oostra B, Partington M, Ramakers GJ, Ropers HH, Rousseau F, Schwartz C, Steinbach P, Stoll C, Tranebjaerg L, Turner G, Van Bokhoven H, Vianna-Morgante A. Fryns JP, et al. Among authors: rousseau f. Am J Med Genet. 2000 Oct 23;94(5):345-60. doi: 10.1002/1096-8628(20001023)94:5<345::aid-ajmg1>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11050616 No abstract available.

2

On some technical aspects of direct DNA diagnosis of the fragile X syndrome.

Rousseau F, Heitz D, Biancalana V, Oberlé I, Mandel JL. Rousseau F, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):197-207. doi: 10.1002/ajmg.1320430133. Am J Med Genet. 1992. PMID: 1351361

3

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

Macpherson J, Harvey J, Curtis G, Webb T, Heitz D, Rousseau F, Jacobs P. Macpherson J, et al. Among authors: rousseau f. Am J Med Genet. 1992 Jul 15;43(5):905-12. doi: 10.1002/ajmg.1320430535. Am J Med Genet. 1992. PMID: 1642285

4

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

Rousseau F, Heitz D, Oberlé I, Mandel JL. Rousseau F, et al. J Med Genet. 1991 Dec;28(12):830-6. doi: 10.1136/jmg.28.12.830. J Med Genet. 1991. PMID: 1757958 Free PMC article.

5

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

Oostra BA, Jacky PB, Brown WT, Rousseau F. Oostra BA, et al. Among authors: rousseau f. J Med Genet. 1993 May;30(5):410-3. doi: 10.1136/jmg.30.5.410. J Med Genet. 1993. PMID: 8100582 Free PMC article.

6

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.

Nolin SL, Brown WT, Glicksman A, Houck GE Jr, Gargano AD, Sullivan A, Biancalana V, Bröndum-Nielsen K, Hjalgrim H, Holinski-Feder E, Kooy F, Longshore J, Macpherson J, Mandel JL, Matthijs G, Rousseau F, Steinbach P, Väisänen ML, von Koskull H, Sherman SL. Nolin SL, et al. Among authors: rousseau f. Am J Hum Genet. 2003 Feb;72(2):454-64. doi: 10.1086/367713. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529854 Free PMC article.

7

The unstable and methylatable mutations causing the fragile X syndrome.

Rousseau F, Heitz D, Mandel JL. Rousseau F, et al. Hum Mutat. 1992;1(2):91-6. doi: 10.1002/humu.1380010202. Hum Mutat. 1992. PMID: 1301206 Review. No abstract available.

8

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development.

Devys D, Biancalana V, Rousseau F, Boué J, Mandel JL, Oberlé I. Devys D, et al. Among authors: rousseau f. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):208-16. doi: 10.1002/ajmg.1320430134. Am J Med Genet. 1992. PMID: 1605193

9

New polymorphism and a new chromosome breakpoint establish the physical and genetic mapping of DXS369 in the DXS98-FRAXA interval.

Oberlé I, Vincent A, Abbadi N, Rousseau F, Hupkes PE, Hors-Cayla MC, Gilgenkrantz S, Oostra BA, Mandel JL. Oberlé I, et al. Among authors: rousseau f. Am J Med Genet. 1991 Feb-Mar;38(2-3):336-42. doi: 10.1002/ajmg.1320380234. Am J Med Genet. 1991. PMID: 1673307

10

New informative polymorphism at the DXS304 locus, a close distal marker for the fragile X locus.

Rousseau F, Vincent A, Oberlé I, Mandel JL. Rousseau F, et al. Hum Genet. 1990 Feb;84(3):263-6. doi: 10.1007/BF00200572. Hum Genet. 1990. PMID: 1968034

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