Ravisé N - Search Results

1

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Stevanin G, Le Guern E, Ravisé N, Chneiweiss H, Dürr A, Cancel G, Vignal A, Boch AL, Ruberg M, Penet C, et al. Stevanin G, et al. Among authors: ravise n. Am J Hum Genet. 1994 Jan;54(1):11-20. Am J Hum Genet. 1994. PMID: 8279460 Free PMC article.

2

Linkage analyses between dominant X-linked Charcot-Marie-Tooth disease, and 15 Xq11-Xq21 microsatellites in a new large family: three new markers are closely linked to the gene.

Le Guern E, Ravise N, Gugenheim M, Vignal A, Penet C, Bouche P, Weissenbach J, Agid Y, Brice A. Le Guern E, et al. Among authors: ravise n. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):463-9. doi: 10.1016/0960-8966(94)90085-x. Neuromuscul Disord. 1994. PMID: 7881290

3

Genetic heterogeneity of autosomal dominant cerebellar ataxia type I: evidence for the existence of a third locus.

Stevanin G, Chneiweiss H, Le Guern E, Ravise N, Dürr A, Penet C, Agid Y, Brice A. Stevanin G, et al. Among authors: ravise n. Hum Mol Genet. 1993 Sep;2(9):1483-5. doi: 10.1093/hmg/2.9.1483. Hum Mol Genet. 1993. PMID: 8242077 No abstract available.

4

Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33.

LeGuern E, Guilbot A, Kessali M, Ravisé N, Tassin J, Maisonobe T, Grid D, Brice A. LeGuern E, et al. Among authors: ravise n. Hum Mol Genet. 1996 Oct;5(10):1685-8. doi: 10.1093/hmg/5.10.1685. Hum Mol Genet. 1996. PMID: 8894708

5

Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.

Brice A, Ravisé N, Stevanin G, Gugenheim M, Bouche P, Penet C, Agid Y. Brice A, et al. Among authors: ravise n. J Med Genet. 1992 Nov;29(11):807-12. doi: 10.1136/jmg.29.11.807. J Med Genet. 1992. PMID: 1453432 Free PMC article.

6

Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies.

Ravisé N, Dubourg O, Tardieu S, Aurias F, Mercadiel M, Coullin P, Ruberg M, Catala M, Lesourd S, Brice A, LeGuern E. Ravisé N, et al. Am J Med Genet A. 2003 Apr 1;118A(1):43-8. doi: 10.1002/ajmg.a.10190. Am J Med Genet A. 2003. PMID: 12605439

7

Detection of deletion within 17p11.2 in 7 French families with hereditary neuropathy with liability to pressure palsies (HNPP).

Le Guern E, Sturtz F, Gugenheim M, Gouider R, Bonnebouche C, Ravisé N, Gonnaud PM, Tardieu S, Bouche P, Chazot G, et al. Le Guern E, et al. Among authors: ravise n. Cytogenet Cell Genet. 1994;65(4):261-4. doi: 10.1159/000133643. Cytogenet Cell Genet. 1994. PMID: 7903071

8

Assignment of 112 microsatellite markers to 23 chromosome 11 subregions delineated by somatic hybrids: comparison with the genetic map.

Couillin P, Le Guern E, Vignal A, Fizames C, Ravisé N, Delportes D, Reguigne I, Rosier MF, Junien C, van Heyningen V, et al. Couillin P, et al. Among authors: ravise n. Genomics. 1994 May 15;21(2):379-87. doi: 10.1006/geno.1994.1280. Genomics. 1994. PMID: 8088833

9

Constant rearrangement of the CMT1A-REP sequences in HNPP patients with a deletion in chromosome 17p11.2: a study of 30 unrelated cases. The French CMT Collaborative Research Group.

LeGuern E, Gouider R, Lopes J, Abbas N, Gugenheim M, Tardieu S, Ravisé N, Léger JM, Vallat JM, Bouche P, et al. LeGuern E, et al. Among authors: ravise n. Hum Mol Genet. 1995 Sep;4(9):1673-4. doi: 10.1093/hmg/4.9.1673. Hum Mol Genet. 1995. PMID: 8541860 No abstract available.

10

Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the region 17p12 --> p11 and for diagnosis.

LeGuern E, Ravise N, Gouider R, Gugenheim M, Lopes J, Bouche P, Agid Y, Brice A. LeGuern E, et al. Among authors: ravise n. Cytogenet Cell Genet. 1996;72(1):20-5. doi: 10.1159/000134153. Cytogenet Cell Genet. 1996. PMID: 8565626

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