Claustres M - Search Results

1

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Faivre L, Collod-Beroud G, Callewaert B, Child A, Binquet C, Gautier E, Loeys BL, Arbustini E, Mayer K, Arslan-Kirchner M, Stheneur C, Kiotsekoglou A, Comeglio P, Marziliano N, Wolf JE, Bouchot O, Khau-Van-Kien P, Beroud C, Claustres M, Bonithon-Kopp C, Robinson PN, Adès L, De Backer J, Coucke P, Francke U, De Paepe A, Jondeau G, Boileau C. Faivre L, et al. Among authors: claustres m. Eur J Hum Genet. 2009 Apr;17(4):491-501. doi: 10.1038/ejhg.2008.207. Epub 2008 Nov 12. Eur J Hum Genet. 2009. PMID: 19002209 Free PMC article.

2

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

3

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

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

Complex allele [-102T>A+S549R(T>G)] is associated with milder forms of cystic fibrosis than allele S549R(T>G) alone.

Romey MC, Guittard C, Chazalette JP, Frossard P, Dawson KP, Patton MA, Casals T, Bazarbachi T, Girodon E, Rault G, Bozon D, Seguret F, Demaille J, Claustres M. Romey MC, et al. Among authors: claustres m. Hum Genet. 1999 Jul-Aug;105(1-2):145-50. doi: 10.1007/s004399900066. Hum Genet. 1999. PMID: 10480369

7

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

8

Heterozygous TGFBR2 mutations in Marfan syndrome.

Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Among authors: claustres m. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.

9

Mutation spectrum leading to an attenuated phenotype in dystrophinopathies.

Tuffery-Giraud S, Saquet C, Thorel D, Disset A, Rivier F, Malcolm S, Claustres M. Tuffery-Giraud S, et al. Among authors: claustres m. Eur J Hum Genet. 2005 Dec;13(12):1254-60. doi: 10.1038/sj.ejhg.5201478. Eur J Hum Genet. 2005. PMID: 16077730

10

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

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