Claustres M - Search Results

1

UMD (Universal Mutation Database): 2005 update.

Béroud C, Hamroun D, Collod-Béroud G, Boileau C, Soussi T, Claustres M. Béroud C, et al. Among authors: claustres m. Hum Mutat. 2005 Sep;26(3):184-91. doi: 10.1002/humu.20210. Hum Mutat. 2005. PMID: 16086365

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

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone AE, et al. van Essen AJ, et al. Among authors: claustres m. Hum Genet. 1992 Jan;88(3):249-57. doi: 10.1007/BF00197255. Hum Genet. 1992. PMID: 1733826

4

Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.

Tuffery S, Lenk U, Roberts RG, Coubes C, Demaille J, Claustres M. Tuffery S, et al. Among authors: claustres m. Hum Mutat. 1995;6(2):126-35. doi: 10.1002/humu.1380060205. Hum Mutat. 1995. PMID: 7581396

5

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: claustres m. Hum Mutat. 1995;6(2):190-1. doi: 10.1002/humu.1380060216. Hum Mutat. 1995. PMID: 7581407 No abstract available.

6

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

Aguilar-Martinez P, Romey MC, Gris JC, Schved JF, Demaille J, Claustres M. Aguilar-Martinez P, et al. Among authors: claustres m. Hum Mutat. 1994;3(2):156-8. doi: 10.1002/humu.1380030211. Hum Mutat. 1994. PMID: 8199596 No abstract available.

7

Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.

Tuffery S, Moine P, Demaille J, Claustres M. Tuffery S, et al. Among authors: claustres m. Hum Mutat. 1993;2(5):368-74. doi: 10.1002/humu.1380020508. Hum Mutat. 1993. PMID: 8257990

8

A novel mutation (S558X) causing choroideremia.

Beaufrère L, Tuffery S, Hamel C, Arnaud B, Demaille J, Claustres M. Beaufrère L, et al. Among authors: claustres m. Hum Mutat. 1996;8(4):395. doi: 10.1002/humu.1380080405. Hum Mutat. 1996. PMID: 8956058 No abstract available.

9

Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts.

Maugard C, Tuffery S, Aguilar-Martinez P, Schved JF, Gris JC, Demaille J, Claustres M. Maugard C, et al. Among authors: claustres m. Hum Mutat. 1998;11(1):18-22. doi: 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H. Hum Mutat. 1998. PMID: 9450898 No abstract available.

10

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.

Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Hum Mutat. 1999;14(5):359-68. doi: 10.1002/(SICI)1098-1004(199911)14:5<359::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 1999. PMID: 10533061

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