Claustres M - Search Results

1

Length variations of the poly(T) tract at the exon 3 splice acceptor site of the choroideremia gene.

Beaufrère L, Rieu S, Hache JC, Dumur V, Claustres M, Tuffery S. Beaufrère L, et al. Among authors: claustres m. Genet Couns. 1998;9(4):255-7. Genet Couns. 1998. PMID: 9894161

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

Becker muscular dystrophy: demonstration of the carrier status of a female by immunoblotting and immunostaining.

Chevron MP, Tuffery S, Echenne B, Demaille J, Claustres M. Chevron MP, et al. Among authors: claustres m. Neuromuscul Disord. 1992;2(1):47-50. doi: 10.1016/0960-8966(92)90026-3. Neuromuscul Disord. 1992. PMID: 1525558

4

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.

Claustres M, Tuffery S, Chevron MP, Jozelon MP, Martinez P, Echenne B, Demaille J. Claustres M, et al. Hum Genet. 1991 Dec;88(2):179-84. doi: 10.1007/BF00206068. Hum Genet. 1991. PMID: 1684565

5

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

6

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.

7

Direct carrier detection for severe haemophilia A: application to families with no available affected male.

Maugard C, Aguilar-Martinez P, Schved JF, Biron C, Gris JC, Demaille J, Claustres M. Maugard C, et al. Among authors: claustres m. Genet Couns. 1995;6(2):109-12. Genet Couns. 1995. PMID: 7546452

8

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

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. Hum Mol Genet. 1993 Aug;2(8):1209-13. doi: 10.1093/hmg/2.8.1209. Hum Mol Genet. 1993. PMID: 7691344

10

Identification of variable length polyadenosine tract at the dystrophin locus.

Tuffery S, Moine P, Demaille J, Claustres M. Tuffery S, et al. Among authors: claustres m. Hum Genet. 1995 May;95(5):590-2. doi: 10.1007/BF00223878. Hum Genet. 1995. PMID: 7759086

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