Mandel JL - Search Results

1

FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy.

Biancalana V, Toft M, Le Ber I, Tison F, Scherrer E, Thibodeau S, Mandel JL, Brice A, Farrer MJ, Dürr A. Biancalana V, et al. Among authors: mandel jl. Arch Neurol. 2005 Jun;62(6):962-6. doi: 10.1001/archneur.62.6.962. Arch Neurol. 2005. PMID: 15956167

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

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. Among authors: mandel jl. 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

4

Direct DNA analysis of fragile X syndrome in Spanish pedigrees.

Tejada I, Mornet E, Biancalana V, Oberlé I, Boué J, Mandel JL, Boué A. Tejada I, et al. Among authors: mandel jl. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):282-90. doi: 10.1002/ajmg.1320430144. Am J Med Genet. 1992. PMID: 1351363

5

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

6

Multilocus analysis of the fragile X syndrome.

Brown WT, Gross A, Chan C, Jenkins EC, Mandel JL, Oberlé I, Arveiler B, Novelli G, Thibodeau S, Hagerman R, et al. Brown WT, et al. Among authors: mandel jl. Hum Genet. 1988 Mar;78(3):201-5. doi: 10.1007/BF00291662. Hum Genet. 1988. PMID: 3162224

7

FRAXAC2 instability.

Richards RI, Holman K, Friend K, Staples A, Sutherland GR, Oudet C, Biancalana V, Mandel JL. Richards RI, et al. Among authors: mandel jl. Nat Genet. 1994 Jun;7(2):122; author reply 123. doi: 10.1038/ng0694-122a. Nat Genet. 1994. PMID: 7802803 No abstract available.

8

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.

9

Hypomagnesemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint.

Chery M, Biancalana V, Philippe C, Malpuech G, Carla H, Gilgenkrantz S, Mandel JL, Hanauer A. Chery M, et al. Among authors: mandel jl. Hum Genet. 1994 May;93(5):587-91. doi: 10.1007/BF00202829. Hum Genet. 1994. PMID: 8168840

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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