Claustres M - Search Results

1

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

2

[Detection of deletions by the amplification of exons (multiplex PCR) in Duchenne muscular dystrophy].

Claustres M, Kjellberg P, Desgeorges M, Bellet H, Sarda P, Bonnet H, Boileau C. Claustres M, et al. J Genet Hum. 1989 Sep;37(3):251-7. J Genet Hum. 1989. PMID: 2625628 French.

3

Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy.

Claustres M, Kjellberg P, Desgeorges M, Bellet H, Demaille J. Claustres M, et al. Hum Genet. 1990 Dec;86(2):241-3. doi: 10.1007/BF00197714. Hum Genet. 1990. PMID: 1979959

4

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

5

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.

Passarelli C, Selvatici R, Carrieri A, Di Raimo FR, Falzarano MS, Fortunato F, Rossi R, Straub V, Bushby K, Reza M, Zharaieva I, D'Amico A, Bertini E, Merlini L, Sabatelli P, Borgiani P, Novelli G, Messina S, Pane M, Mercuri E, Claustres M, Tuffery-Giraud S, Aartsma-Rus A, Spitali P, T'Hoen PAC, Lochmüller H, Strandberg K, Al-Khalili C, Kotelnikova E, Lebowitz M, Schwartz E, Muntoni F, Scapoli C, Ferlini A. Passarelli C, et al. Among authors: claustres m. Front Genet. 2020 Jul 3;11:605. doi: 10.3389/fgene.2020.00605. eCollection 2020. Front Genet. 2020. PMID: 32719714 Free PMC article.

6

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants.

van den Bergen JC, Hiller M, Böhringer S, Vijfhuizen L, Ginjaar HB, Chaouch A, Bushby K, Straub V, Scoto M, Cirak S, Humbertclaude V, Claustres M, Scotton C, Passarelli C, Lochmüller H, Muntoni F, Tuffery-Giraud S, Ferlini A, Aartsma-Rus AM, Verschuuren JJ, 't Hoen PA, Spitali P. van den Bergen JC, et al. Among authors: claustres m. J Neurol Neurosurg Psychiatry. 2015 Oct;86(10):1060-5. doi: 10.1136/jnnp-2014-308409. Epub 2014 Dec 4. J Neurol Neurosurg Psychiatry. 2015. PMID: 25476005 Free PMC article.

7

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

Bello L, Flanigan KM, Weiss RB; United Dystrophinopathy Project; Spitali P, Aartsma-Rus A, Muntoni F, Zaharieva I, Ferlini A, Mercuri E, Tuffery-Giraud S, Claustres M, Straub V, Lochmüller H, Barp A, Vianello S, Pegoraro E, Punetha J, Gordish-Dressman H, Giri M, McDonald CM, Hoffman EP; Cooperative International Neuromuscular Research Group. Bello L, et al. Among authors: claustres m. Am J Hum Genet. 2016 Nov 3;99(5):1163-1171. doi: 10.1016/j.ajhg.2016.08.023. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745838 Free PMC article.

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

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

10

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

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