Mandel JL - Search Results

1

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Stevanin G, Trottier Y, Cancel G, Dürr A, David G, Didierjean O, Bürk K, Imbert G, Saudou F, Abada-Bendib M, Gourfinkel-An I, Benomar A, Abbas N, Klockgether T, Grid D, Agid Y, Mandel JL, Brice A. Stevanin G, et al. Among authors: mandel jl. Hum Mol Genet. 1996 Dec;5(12):1887-92. doi: 10.1093/hmg/5.12.1887. Hum Mol Genet. 1996. PMID: 8968739

2

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.

Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JL. Biancalana V, et al. Among authors: mandel jl. Hum Mol Genet. 1992 Jul;1(4):255-8. doi: 10.1093/hmg/1.4.255. Hum Mol Genet. 1992. PMID: 1303195

3

A 530kb YAC contig tightly linked to the Friedreich ataxia locus contains five CpG clusters and a new highly polymorphic microsatellite.

Fujita R, Sirugo G, Duclos F, Abderrahim H, Le Paslier D, Cohen D, Brownstein BH, Schlessinger D, Mandel JL, Koenig M. Fujita R, et al. Among authors: mandel jl. Hum Genet. 1992 Jul;89(5):531-8. doi: 10.1007/BF00219179. Hum Genet. 1992. PMID: 1353054 Free article.

4

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.

5

Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination.

Oudet C, Heilig R, Hanauer A, Mandel JL. Oudet C, et al. Among authors: mandel jl. Am J Hum Genet. 1991 Aug;49(2):311-9. Am J Hum Genet. 1991. PMID: 1867193 Free PMC article.

6

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker.

Fujita R, Agid Y, Trouillas P, Seck A, Tommasi-Davenas C, Driesel AJ, Olek K, Grzeschik KH, Nakamura Y, Mandel JL, Hanauer A. Fujita R, et al. Among authors: mandel jl. Genomics. 1989 Jan;4(1):110-1. doi: 10.1016/0888-7543(89)90323-6. Genomics. 1989. PMID: 2563350

7

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

8

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy.

Cartier N, Sarde CO, Douar AM, Mosser J, Mandel JL, Aubourg P. Cartier N, et al. Among authors: mandel jl. Hum Mol Genet. 1993 Nov;2(11):1949-51. doi: 10.1093/hmg/2.11.1949. Hum Mol Genet. 1993. PMID: 7904210

9

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

10

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb.

Duclos F, Rodius F, Wrogemann K, Mandel JL, Koenig M. Duclos F, et al. Among authors: mandel jl. Hum Mol Genet. 1994 Jun;3(6):909-14. doi: 10.1093/hmg/3.6.909. Hum Mol Genet. 1994. PMID: 7951235

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