Le Guern E - Search Results

1

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

2

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

3

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

4

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

5

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

6

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

7

Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.

Iampieri MP, Mingarelli R, Le Guern E, Novelli G, Dallapiccola B. Iampieri MP, et al. Among authors: le guern e. Prenat Diagn. 1994 Apr;14(4):285-9. doi: 10.1002/pd.1970140408. Prenat Diagn. 1994. PMID: 8066038

8

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: le guern e. Am J Hum Genet. 1994 Jan;54(1):11-20. Am J Hum Genet. 1994. PMID: 8279460 Free PMC article.

9

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.

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

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