Desgeorges M - Search Results

1

Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.

Romey MC, Desgeorges M, Ray P, Godard P, Demaille J, Claustres M. Romey MC, et al. Among authors: desgeorges m. Hum Mutat. 1995;6(2):190-1. doi: 10.1002/humu.1380060216. Hum Mutat. 1995. PMID: 7581407 No abstract available.

2

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.

Raynal C, Baux D, Theze C, Bareil C, Taulan M, Roux AF, Claustres M, Tuffery-Giraud S, des Georges M. Raynal C, et al. Hum Mutat. 2013 May;34(5):774-84. doi: 10.1002/humu.22291. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23381846

3

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. Among authors: desgeorges m. Hum Mutat. 1992;1(4):310-3. doi: 10.1002/humu.1380010408. Hum Mutat. 1992. PMID: 1284537

4

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: desgeorges m. Hum Genet. 1994 Apr;93(4):467-70. doi: 10.1007/BF00201678. Hum Genet. 1994. PMID: 7513294

5

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: desgeorges 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.

6

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. Among authors: desgeorges m. Hum Mol Genet. 1994 Feb;3(2):371. doi: 10.1093/hmg/3.2.371. Hum Mol Genet. 1994. PMID: 7516234 No abstract available.

7

Homozygosity for a novel missense mutation (I175V) in exon 5 of the CFTR gene in a family of Armenian descent.

Romey MC, Desgeorges M, Malzac P, Sarles J, Demaille J, Claustres M. Romey MC, et al. Among authors: desgeorges m. Hum Mol Genet. 1994 Apr;3(4):661-2. doi: 10.1093/hmg/3.4.661. Hum Mol Genet. 1994. PMID: 7520799 No abstract available.

8

Two novel rare frameshift mutations (2423 del G in exon 13 and 1215 del G in exon 7) and one novel rare sequence variation (3271 + 18 C or T) identified in a patient with cystic fibrosis.

Romey MC, Desgeorges M, Laussel M, Durand MF, Demaille J, Claustres M. Romey MC, et al. Among authors: desgeorges m. Hum Mol Genet. 1994 Jun;3(6):1003-4. doi: 10.1093/hmg/3.6.1003. Hum Mol Genet. 1994. PMID: 7524910 No abstract available.

9

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France.

Claustres M, Laussel M, Desgeorges M, Giansily M, Culard JF, Razakatsara G, Demaille J. Claustres M, et al. Among authors: desgeorges m. Hum Mol Genet. 1993 Aug;2(8):1209-13. doi: 10.1093/hmg/2.8.1209. Hum Mol Genet. 1993. PMID: 7691344

10

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.

Desgeorges M, Rodier M, Piot M, Demaille J, Claustres M. Desgeorges M, et al. Hum Genet. 1995 Dec;96(6):717-20. doi: 10.1007/BF00210305. Hum Genet. 1995. PMID: 8522333

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