Biancalana V - 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: biancalana v. 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

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. 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: biancalana v. 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

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: biancalana v. 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

5

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: biancalana v. Am J Hum Genet. 1995 Apr;56(4):999-1002. Am J Hum Genet. 1995. PMID: 7717411 Free PMC article. No abstract available.

6

FRAXAC2 instability.

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

7

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: biancalana v. 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.

8

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: biancalana v. Hum Genet. 1994 May;93(5):587-91. doi: 10.1007/BF00202829. Hum Genet. 1994. PMID: 8168840

9

Microsatellites and disease: a new paradigm.

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

10

Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males.

Biancalana V, Taine L, Bouix JC, Finck S, Chauvin A, De Verneuil H, Knight SJ, Stoll C, Lacombe D, Mandel JL. Biancalana V, et al. Am J Hum Genet. 1996 Oct;59(4):847-54. Am J Hum Genet. 1996. PMID: 8808600 Free PMC article.

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