Mandel JL - Search Results

1

Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.

Helmlinger D, Bonnet J, Mandel JL, Trottier Y, Devys D. Helmlinger D, et al. Among authors: mandel jl. J Biol Chem. 2004 Dec 31;279(53):55969-77. doi: 10.1074/jbc.M409062200. Epub 2004 Oct 19. J Biol Chem. 2004. PMID: 15494410 Free article.

2

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Heitz D, et al. Among authors: mandel jl. J Med Genet. 1992 Nov;29(11):794-801. doi: 10.1136/jmg.29.11.794. J Med Genet. 1992. PMID: 1453430 Free PMC article.

3

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: mandel jl. 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

4

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome.

Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boué J, Bertheas MF, Mandel JL. Oberlé I, et al. Among authors: mandel jl. Science. 1991 May 24;252(5009):1097-102. doi: 10.1126/science.252.5009.1097. Science. 1991. PMID: 2031184

5

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture.

Khandjian EW, Fortin A, Thibodeau A, Tremblay S, Côté F, Devys D, Mandel JL, Rousseau F. Khandjian EW, et al. Among authors: mandel jl. Hum Mol Genet. 1995 May;4(5):783-9. doi: 10.1093/hmg/4.5.783. Hum Mol Genet. 1995. PMID: 7633436

6

Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form.

Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, Weber C, Agid Y, Hirsch EC, Mandel JL. Trottier Y, et al. Among authors: mandel jl. Nat Genet. 1995 May;10(1):104-10. doi: 10.1038/ng0595-104. Nat Genet. 1995. PMID: 7647777

7

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

Trottier Y, Imbert G, Poustka A, Fryns JP, Mandel JL. Trottier Y, et al. Among authors: mandel jl. Am J Med Genet. 1994 Jul 15;51(4):454-7. doi: 10.1002/ajmg.1320510431. Am J Med Genet. 1994. PMID: 7943018

8

The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.

Imbert G, Trottier Y, Beckmann J, Mandel JL. Imbert G, et al. Among authors: mandel jl. Genomics. 1994 Jun;21(3):667-8. doi: 10.1006/geno.1994.1335. Genomics. 1994. PMID: 7959752 No abstract available.

9

Instability of CAG repeats in Huntington's disease: relation to parental transmission and age of onset.

Trottier Y, Biancalana V, Mandel JL. Trottier Y, et al. Among authors: mandel jl. J Med Genet. 1994 May;31(5):377-82. doi: 10.1136/jmg.31.5.377. J Med Genet. 1994. PMID: 8064815 Free PMC article.

10

Microsatellites and disease: a new paradigm.

Wrogemann K, Biancalana V, Devys D, Imbert G, Trottier Y, Mandel JL. Wrogemann K, et al. Among authors: mandel jl. EXS. 1993;67:141-52. doi: 10.1007/978-3-0348-8583-6_13. EXS. 1993. PMID: 8400686 Review. No abstract available.

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