Mandel JL - Search Results

1

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL. Laporte J, et al. Among authors: mandel jl. Hum Mutat. 2000;15(5):393-409. doi: 10.1002/(SICI)1098-1004(200005)15:5<393::AID-HUMU1>3.0.CO;2-R. Hum Mutat. 2000. PMID: 10790201 Review.

2

The unstable and methylatable mutations causing the fragile X syndrome.

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

3

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

4

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

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

Genetic linkage heterogeneity in myotubular myopathy.

Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier JJ, Pelissier JF, Feingold N, Junien C, Mandel JL, et al. Samson F, et al. Among authors: mandel jl. Am J Hum Genet. 1995 Jul;57(1):120-6. Am J Hum Genet. 1995. PMID: 7611280 Free PMC article.

7

Deletion mapping of X-linked mixed deafness (DFN3) identifies a 265-525-kb region centromeric of DXS26.

Dahl N, Laporte J, Hu L, Biancalana V, Le Palier D, Cohen D, Piussan C, Mandel JL. Dahl N, et al. Among authors: mandel jl. Am J Hum Genet. 1995 Apr;56(4):999-1002. Am J Hum Genet. 1995. PMID: 7717411 Free PMC article. No abstract available.

8

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.

9

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684).

Dahl N, Samson F, Thomas NS, Hu LJ, Gong W, Herman G, Laporte J, Kioschis P, Poustka A, Mandel JL. Dahl N, et al. Among authors: mandel jl. J Med Genet. 1994 Dec;31(12):922-4. doi: 10.1136/jmg.31.12.922. J Med Genet. 1994. PMID: 7891372 Free PMC article.

10

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.

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