Claustres M - Search Results

1

[Genetic mutation databases: stakes and perspectives for orphan genetic diseases].

Humbertclaude V, Tuffery-Giraud S, Bareil C, Thèze C, Paulet D, Desmet FO, Hamroun D, Baux D, Girardet A, Collod-Béroud G, Khau Van Kien P, Roux AF, des Georges M, Béroud C, Claustres M. Humbertclaude V, et al. Among authors: claustres m. Pathol Biol (Paris). 2010 Oct;58(5):387-95. doi: 10.1016/j.patbio.2009.09.008. Epub 2009 Dec 1. Pathol Biol (Paris). 2010. PMID: 19954899 Free article. Review. French.

2

Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.

Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M. Claustres M, et al. Hum Mutat. 1992;1(4):310-3. doi: 10.1002/humu.1380010408. Hum Mutat. 1992. PMID: 1284537

3

A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis.

Claustres M, Gerrard B, White MB, Desgeorges M, Kjellberg P, Rollin B, Dean M. Claustres M, et al. Genomics. 1992 Jul;13(3):907-8. doi: 10.1016/0888-7543(92)90187-w. Genomics. 1992. PMID: 1379211 No abstract available.

4

Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.

Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J. Claustres M, et al. Hum Genet. 1992 Dec;90(4):464-6. doi: 10.1007/BF00220479. Hum Genet. 1992. PMID: 1483707

5

Cystic fibrosis typing with DNA probes and screening for delta F508 deletion in families from southern France.

Claustres M, Desgeorges M, Kjellberg P, Bellet H, Demaille J, Ramsay M. Claustres M, et al. Hum Genet. 1990 Sep;85(4):398-9. doi: 10.1007/BF02428274. Hum Genet. 1990. PMID: 1976591

6

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.

Claustres M, Kjellberg P, Desgeorges M, Bellet H, Demaille J. Claustres M, et al. Hum Genet. 1990 Dec;86(2):241-3. doi: 10.1007/BF00197714. Hum Genet. 1990. PMID: 1979959

7

Identification of carriers by screening for delta F508 deletion in a multi-generation cystic fibrosis family.

Claustres M, Desgeorges M, Kjellberg P, Demaille J. Claustres M, et al. Genet Couns. 1990;1(3-4):211-7. Genet Couns. 1990. PMID: 1982988

8

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

Culard JF, Desgeorges M, Costa P, Laussel M, Razakatzara G, Navratil H, Demaille J, Claustres M. Culard JF, et al. Among authors: claustres m. Hum Genet. 1994 Apr;93(4):467-70. doi: 10.1007/BF00201678. Hum Genet. 1994. PMID: 7513294

9

A novel splice site mutation in the first exon of the cystic fibrosis transmembrane regulator (CFTR) gene identified in a CBAVD patient.

Culard JF, Desgeorges M, Romey MC, Malzac P, Demaille J, Claustres M. Culard JF, et al. Among authors: claustres m. Hum Mol Genet. 1994 Feb;3(2):369-70. doi: 10.1093/hmg/3.2.369. Hum Mol Genet. 1994. PMID: 7516233 No abstract available.

10

Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene.

Claustres M, Laussel M, Desgeorges M, Demaille J. Claustres M, et al. Hum Mol Genet. 1994 Feb;3(2):371. doi: 10.1093/hmg/3.2.371. Hum Mol Genet. 1994. PMID: 7516234 No abstract available.

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