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authFullName_s : Martine Blayau

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

France Tuffery-Giraud , Christophe Béroud , France Leturcq , Rabah Ben Yaou , Dalil Hamroun et al.
Human Mutation, 2009, 30 (6), pp.934 - 945. ⟨10.1002/humu.20976⟩
Journal articles hal-01681838v1

Genomic variations integrated database for MUTYH -associated adenomatous polyposis

Philippe Grandval , Aurelie J Fabre , Pascaline Gaildrat , Stéphanie Baert-Desurmont , Martine Blayau et al.
Journal of Medical Genetics, 2014, 52 (1), pp.25 - 27. ⟨10.1136/jmedgenet-2014-102752⟩
Journal articles hal-01681775v1

CFTR mutation combinations producing frequent complex alleles with different clinical and functional outcomes

Ayman El-Seedy , Emmanuelle Girodon , Caroline Norez , Julie Pajaud , Marie-Claude Pasquet et al.
Human Mutation, 2012, 33 (11), pp.1557-1565. ⟨10.1002/humu.22129⟩
Journal articles istex hal-02446189v1

Highlighting the impact of cascade carrier testing in cystic fibrosis families

Ingrid Duguépéroux , Carine L'Hostis , Marie-Pierre Audrézet , Gilles Rault , Irène Frachon et al.
Journal of Cystic Fibrosis, 2016, 15 (4), pp.452-459
Journal articles hal-02042301v1

Nonvisualization of fetal gallbladder increases the risk of cystic fibrosis.

Ingrid Duguépéroux , Virginie Scotet , Marie-Pierre Audrézet , Anne-Hélène Saliou , Michel Collet et al.
Prenatal Diagnosis, 2012, 32 (1), pp.21-8. ⟨10.1002/pd.2866⟩
Journal articles istex hal-00931899v1
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Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation

Patrick R Benusiglio , Chystelle Colas , Etienne Rouleau , Nancy Uhrhammer , Pierre Romero et al.
Journal of Medical Genetics, 2015, 52 (8), pp.563-565. ⟨10.1136/jmedgenet-2015-103153⟩
Journal articles hal-01647109v1

The UMD-APC Database, a Model of Nation-Wide Knowledge Base: Update with Data from 3,581 Variations

Philippe Grandval , Martine Blayau , Marie-Pierre Buisine , Florence Coulet , Christine Maugard et al.
Human Mutation, 2014, 35 (5), pp.532 - 536. ⟨10.1002/humu.22539⟩
Journal articles istex hal-01681788v1
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p.Ser1235Arg should no longer be considered as a Cystic Fibrosis mutation: results from a large collaborative study

Celine Rene , Damien Paulet , Emmanuelle Girodon , Catherine Costa , Guy Lalau et al.
European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.137⟩
Journal articles hal-00567037v1

Insuffisance ovarienne prématurée chez deux patientes présentant une délétion Xq

Vincent Jauffret , Célia Ravel , Elouan Chérot , Christèle Dubourg , Martine Blayau et al.
Morphologie, 2015, 20es Journées du Collège des Histologistes, Embryologistes et Cytogénéticiens - Paris 12-14 mars 2015, 99 (327), pp.168. ⟨10.1016/j.morpho.2015.09.043⟩
Journal articles hal-01245011v1