Concepedia

Martine Blayau

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Publications

33

Citations

2.4K

H-Index

24

Active since

1988

Affiliations

Centre Hospitalier Universitaire de Rennes(Current)

Laboratoire de Génétique Cellulaire

Inserm

Sorbonne Université

Université de Rennes

Martine Blayau is an author at Centre Hospitalier Universitaire de Rennes specializing in genetics, life sciences, and human genetics.

Publications per year

1988–2016

33

Publications

33

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

Sylvie Tuffery‐Giraud, Christophe Béroud, France Leturcq et al. · Human Mutation · 2009 · 365 citations · Full text

, , +14

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

Mireille Claustres, Caroline Guittard, Dominique Bozon et al. · Human Mutation · 2000 · 250 citations

, , +11

Cleft lip/palate and <i>CDH1/E-cadherin</i> mutations in families with hereditary diffuse gastric cancer

Thierry Frébourg, Carla Oliveíra, Patrick Hochain et al. · Journal of Medical Genetics · 2005 · 203 citations · Full text

, , +17

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

Christophe Béroud, Sylvie Tuffery‐Giraud, Masafumi Matsuo et al. · Human Mutation · 2006 · 197 citations

, , +13

Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

Sylvie Odent, Tania Attié‐Bitach, Martine Blayau et al. · Human Molecular Genetics · 1999 · 159 citations

, , +16

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