Le Guern E - Search Results

1

More precise localization of the gene for Hunter syndrome.

Le Guern E, Couillin P, Oberlé I, Ravise N, Boue J. Le Guern E, et al. Genomics. 1990 Jul;7(3):358-62. doi: 10.1016/0888-7543(90)90169-u. Genomics. 1990. PMID: 2114352

2

Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients.

Plougastel B, Couillin P, Blanquet V, Le Guern E, Bakker E, Turleau C, De Grouchy J, Créau-Goldberg N. Plougastel B, et al. Among authors: le guern e. Genomics. 1992 Oct;14(2):523-5. doi: 10.1016/s0888-7543(05)80259-9. Genomics. 1992. PMID: 1427872

3

Molecular studies of a translocated (X;22) DiGeorge patient using somatic cell hybridization.

Couillin P, Zucman J, Le Guern E, Reguigne I, Grisard MC, Delattre O, Novelli G, Dallapiccola B, Boué A. Couillin P, et al. Among authors: le guern e. Ann Genet. 1992;35(3):140-5. Ann Genet. 1992. PMID: 1466562

4

Strategy for constructing somatic hybrids isolating the two derivative chromosomes in X;autosome translocations. Application to a female patient t(X;5) with Hunter syndrome.

Couillin P, Le Guern E, Ravise N, Grisard MC, Oostra BA, Boue A. Couillin P, et al. Among authors: le guern e. Ann Genet. 1990;33(4):196-207. Ann Genet. 1990. PMID: 2128908

5

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1.

Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, Ouhabi H, Martin JJ, Dürr A, Zaim A, et al. Benomar A, et al. Nat Genet. 1995 May;10(1):84-8. doi: 10.1038/ng0595-84. Nat Genet. 1995. PMID: 7647798

6

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

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. 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: le guern e. Genomics. 1994 May 15;21(2):379-87. doi: 10.1006/geno.1994.1280. Genomics. 1994. PMID: 8088833

9

Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Mornet E, Bogyo A, Deluchat C, Simon-Bouy B, Mathieu M, Thépot F, Grisard MC, Leguern E, Boué J, Boué A. Mornet E, et al. Hum Genet. 1993 Oct;92(4):373-8. doi: 10.1007/BF01247338. Hum Genet. 1993. PMID: 8225318

10

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: le guern e. 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.

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