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Frederique Magdinier

6
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nicolas-levy
"francesca-puppo"
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix
Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩
Article dans une revue hal-01614514v1
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Campana Salort
BMC Medical Genetics, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩
Article dans une revue hal-01378417v1
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

Francesca Puppo , Eugénie Dionnet , Marie-Cécile Gaillard , Pascaline Gaildrat , Christel Castro
Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩
Article dans une revue hal-01662841v1
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Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

Marie-Cécile Gaillard , Stéphane Roche , Camille Dion , Armand Tasmadjian , Gwenaelle Bouget
Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩
Article dans une revue hal-01610019v1
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Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.

Nathalie Caruso , Balàzs Herberth , Marc Bartoli , Francesca Puppo , Julie Dumonceaux
PLoS Genetics, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩
Article dans une revue hal-00862092v1