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Stephane Roche

11
Documents

Publications

nicolas-levy
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Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Emmanuelle Salort-Campana , Farzad Fatehi , Sadia Beloribi-Djefaflia , Stéphane Roche , Karine Nguyen
International Journal of Molecular Sciences, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩
Article dans une revue hal-02533845v1
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy

Karine Nguyen , Stéphane Roche , Erwan Donal , Sylvie Odent , Jean-Christophe Eicher
Circulation: Genomic and Precision Medicine, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩
Article dans une revue hal-02140150v1
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Karine Nguyen , Natacha Broucqsault , Charlene Chaix , Stéphane Roche , Jérôme Robin-Ducellier
Journal of Medical Genetics, inPress, ⟨10.1136/jmedgenet-2018-105949⟩
Article dans une revue hal-02140159v1
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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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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
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Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Natacha Broucqsault , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents
Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩
Article dans une revue hal-01662672v1