Bouche P - Search Results

1

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: bouche p. Cytogenet Cell Genet. 1996;72(1):20-5. doi: 10.1159/000134153. Cytogenet Cell Genet. 1996. PMID: 8565626

2

Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion.

Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Léger JM, Vallat JM, Agid Y, Bouche P, Brice A. Gouider R, et al. Among authors: bouche p. Neurology. 1995 Nov;45(11):2018-23. doi: 10.1212/wnl.45.11.2018. Neurology. 1995. PMID: 7501152

3

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: bouche p. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):463-9. doi: 10.1016/0960-8966(94)90085-x. Neuromuscul Disord. 1994. PMID: 7881290

4

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: bouche p. Cytogenet Cell Genet. 1994;65(4):261-4. doi: 10.1159/000133643. Cytogenet Cell Genet. 1994. PMID: 7903071

5

Hereditary neuralgic amyotrophy and hereditary neuropathy with liability to pressure palsies: two distinct clinical, electrophysiologic, and genetic entities.

Gouider R, LeGuern E, Emile J, Tardieu S, Cabon F, Samid M, Weissenbach J, Agid Y, Bouche P, Brice A. Gouider R, et al. Among authors: bouche p. Neurology. 1994 Dec;44(12):2250-2. doi: 10.1212/wnl.44.12.2250. Neurology. 1994. PMID: 7991107

6

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: bouche p. 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.

7

Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Lopes J, LeGuern E, Gouider R, Tardieu S, Abbas N, Birouk N, Gugenheim M, Bouche P, Agid Y, Brice A. Lopes J, et al. Among authors: bouche p. Am J Hum Genet. 1996 Jun;58(6):1223-30. Am J Hum Genet. 1996. PMID: 8651299 Free PMC article.

8

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: bouche p. Hum Mol Genet. 1996 Jan;5(1):103-6. doi: 10.1093/hmg/5.1.103. Hum Mol Genet. 1996. PMID: 8789446

9

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: bouche p. Hum Mol Genet. 1998 Jan;7(1):141-8. doi: 10.1093/hmg/7.1.141. Hum Mol Genet. 1998. PMID: 9384615

10

Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion.

Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O, Brice A, LeGuern E, Bouche P. Mouton P, et al. Among authors: bouche p. Neurology. 1999 Apr 22;52(7):1440-6. doi: 10.1212/wnl.52.7.1440. Neurology. 1999. PMID: 10227632

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