Claustres M - Search Results

1

The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.

Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, Claustres M, Béroud C, Collod-Béroud G. Frédéric MY, et al. Among authors: claustres m. Hum Mutat. 2009 Feb;30(2):181-90. doi: 10.1002/humu.20794. Hum Mutat. 2009. PMID: 18767143 Free article.

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

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

4

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.

5

Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.

Aguilar-Martinez P, Romey MC, Schved JF, Gris JC, Demaille J, Claustres M. Aguilar-Martinez P, et al. Among authors: claustres m. Hum Genet. 1994 Sep;94(3):287-90. doi: 10.1007/BF00208285. Hum Genet. 1994. PMID: 8076946

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

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.

9

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

10

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.

Claustres M, Guittard C, Bozon D, Chevalier F, Verlingue C, Ferec C, Girodon E, Cazeneuve C, Bienvenu T, Lalau G, Dumur V, Feldmann D, Bieth E, Blayau M, Clavel C, Creveaux I, Malinge MC, Monnier N, Malzac P, Mittre H, Chomel JC, Bonnefont JP, Iron A, Chery M, Georges MD. Claustres M, et al. Hum Mutat. 2000;16(2):143-56. doi: 10.1002/1098-1004(200008)16:2<143::AID-HUMU7>3.0.CO;2-J. Hum Mutat. 2000. PMID: 10923036

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