Claustres M - Search Results

1

A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF. Pallares-Ruiz N, et al. Among authors: claustres m. Eur J Hum Genet. 2002 Jan;10(1):72-6. doi: 10.1038/sj.ejhg.5200762. Eur J Hum Genet. 2002. PMID: 11896458

2

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

3

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

4

Four novel dystrophin point mutations: detection by protein truncation test and transcript analysis in lymphocytes from Duchenne muscular dystrophy patients.

Tuffery S, Bareil C, Demaille J, Claustres M. Tuffery S, et al. Among authors: claustres m. Eur J Hum Genet. 1996;4(3):143-52. doi: 10.1159/000472188. Eur J Hum Genet. 1996. PMID: 8840114

5

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M. Tuffery S, et al. Among authors: claustres m. Hum Genet. 1998 Mar;102(3):334-42. doi: 10.1007/s004390050702. Hum Genet. 1998. PMID: 9544849

6

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

Marlhens F, Griffoin JM, Bareil C, Arnaud B, Claustres M, Hamel CP. Marlhens F, et al. Among authors: claustres m. Eur J Hum Genet. 1998 Sep-Oct;6(5):527-31. doi: 10.1038/sj.ejhg.5200205. Eur J Hum Genet. 1998. PMID: 9801879

7

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

Macari F, Lautier C, Girardet A, Dadoun F, Darmon P, Dutour A, Renard E, Bouvagnet P, Claustres M, Oliver C, Grigorescu F. Macari F, et al. Among authors: claustres m. Hum Genet. 1998 Dec;103(6):658-61. doi: 10.1007/s004390050887. Hum Genet. 1998. PMID: 9921899

8

Direct estimation of the recombination frequency between the RB1 gene and two closely linked microsatellites using sperm typing.

Girardet A, Lien S, Leeflang EP, Beaufrère L, Tuffery S, Munier F, Arnheim N, Claustres M, Pellestor F. Girardet A, et al. Among authors: claustres m. Eur J Hum Genet. 1999 Feb-Mar;7(2):239-42. doi: 10.1038/sj.ejhg.5200250. Eur J Hum Genet. 1999. PMID: 10196709

9

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.

Bareil C, Hamel C, Pallarès-Ruiz N, Arnaud B, Demaille J, Claustres M. Bareil C, et al. Among authors: claustres m. Ophthalmic Genet. 1999 Sep;20(3):173-82. doi: 10.1076/opge.20.3.173.2282. Ophthalmic Genet. 1999. PMID: 10521250

10

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality.

Pallares-Ruiz N, Carles S, Des Georges M, Guittard C, Arnal F, Humeau C, Claustres M. Pallares-Ruiz N, et al. Among authors: claustres m. Hum Reprod. 1999 Dec;14(12):3035-40. doi: 10.1093/humrep/14.12.3035. Hum Reprod. 1999. PMID: 10601093

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