Ravisé N - Search Results

1

Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination.

Lopes J, Ravisé N, Vandenberghe A, Palau F, Ionasescu V, Mayer M, Lévy N, Wood N, Tachi N, Bouche P, Latour P, Ruberg M, Brice A, LeGuern E. Lopes J, et al. Among authors: ravise n. Hum Mol Genet. 1998 Jan;7(1):141-8. doi: 10.1093/hmg/7.1.141. Hum Mol Genet. 1998. PMID: 9384615

2

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.

3

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

4

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

LeGuern E, Gouider R, Ravisé N, Lopes J, Tardieu S, Gugenheim M, Abbas N, Bouche P, Agid Y, Brice A. LeGuern E, et al. Among authors: ravise n. Hum Mol Genet. 1996 Jan;5(1):103-6. doi: 10.1093/hmg/5.1.103. Hum Mol Genet. 1996. PMID: 8789446

5

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

6

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: ravise n. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

7

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.

8

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

9

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

10

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

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