Mandel JL - Search Results

1

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

Cossée M, Dürr A, Schmitt M, Dahl N, Trouillas P, Allinson P, Kostrzewa M, Nivelon-Chevallier A, Gustavson KH, Kohlschütter A, Müller U, Mandel JL, Brice A, Koenig M, Cavalcanti F, Tammaro A, De Michele G, Filla A, Cocozza S, Labuda M, Montermini L, Poirier J, Pandolfo M. Cossée M, et al. Among authors: mandel jl. Ann Neurol. 1999 Feb;45(2):200-6. doi: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u. Ann Neurol. 1999. PMID: 9989622

2

Friedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes.

Sirugo G, Keats B, Fujita R, Duclos F, Purohit K, Koenig M, Mandel JL. Sirugo G, et al. Among authors: mandel jl. Am J Hum Genet. 1992 Mar;50(3):559-66. Am J Hum Genet. 1992. PMID: 1347194 Free PMC article.

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

Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.

Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel JL, Ben Hamida M, et al. Belal S, et al. Among authors: mandel jl. Am J Hum Genet. 1992 Dec;51(6):1372-6. Am J Hum Genet. 1992. PMID: 1463017 Free PMC article.

5

Methylation and mutation patterns in the fragile X syndrome.

Malmgren H, Steén-Bondeson ML, Gustavson KH, Seémanova E, Holmgren G, Oberlé I, Mandel JL, Pettersson U, Dahl N. Malmgren H, et al. Among authors: mandel jl. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):268-78. doi: 10.1002/ajmg.1320430142. Am J Med Genet. 1992. PMID: 1605200

6

Physical mapping of two loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus (FRDA) and identification of nearby CpG islands by pulse-field gel electrophoresis.

Fujita R, Hanauer A, Vincent A, Mandel JL, Koenig M. Fujita R, et al. Among authors: mandel jl. Genomics. 1991 Aug;10(4):915-20. doi: 10.1016/0888-7543(91)90179-i. Genomics. 1991. PMID: 1916823

7

Additional polymorphisms at marker loci D9S5 and D9S15 generate extended haplotypes in linkage disequilibrium with Friedreich ataxia.

Fujita R, Hanauer A, Sirugo G, Heilig R, Mandel JL. Fujita R, et al. Among authors: mandel jl. Proc Natl Acad Sci U S A. 1990 Mar;87(5):1796-800. doi: 10.1073/pnas.87.5.1796. Proc Natl Acad Sci U S A. 1990. PMID: 1968638 Free PMC article.

8

Prenatal diagnosis of Friedreich ataxia.

Hanauer A, Fujita R, Trouillas P, Tommasi-Davenas C, Agid Y, Seck A, Mandel JL. Hanauer A, et al. Among authors: mandel jl. Lancet. 1990 May 5;335(8697):1102. doi: 10.1016/0140-6736(90)92679-c. Lancet. 1990. PMID: 1970404 No abstract available.

9

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel JL. Hanauer A, et al. Among authors: mandel jl. Am J Hum Genet. 1990 Jan;46(1):133-7. Am J Hum Genet. 1990. PMID: 2294745 Free PMC article.

10

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

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