Ravisé N - Search Results

1

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

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

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.

5

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

6

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

7

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

8

The autosomal recessive form of CMT disease linked to 5q31-q33.

Guilbot A, Kessali M, Ravisé N, Hammadouche T, Bouhouche A, Maisonobe T, Grid D, Brice A, Leguern E. Guilbot A, et al. Among authors: ravise n. Ann N Y Acad Sci. 1999 Sep 14;883:56-9. Ann N Y Acad Sci. 1999. PMID: 10586230 No abstract available.

9

The autosomal recessive form of CMT disease linked to 5q31-q33.

Guilbot A, Kessali M, Ravisé N, Hammadouche T, Bouhouche A, Maisonobe T, Grid D, Brice A, LeGuern E. Guilbot A, et al. Among authors: ravise n. Ann N Y Acad Sci. 1999 Sep 14;883:453-6. Ann N Y Acad Sci. 1999. PMID: 10586271 No abstract available.

10

Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.

Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E. Guilbot A, et al. Among authors: ravise n. Eur J Hum Genet. 1999 Dec;7(8):849-59. doi: 10.1038/sj.ejhg.5200382. Eur J Hum Genet. 1999. PMID: 10602360

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