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SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite
Camille Dion
,
Stéphane Roche
,
Camille Laberthonnière
,
Natacha Broucqsault
,
Virginie Mariot
Article dans une revue
hal-02002680v1
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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
Article dans une revue
hal-02533845v1
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism
Stéphane Roche
,
Camille Dion
,
Natacha Broucqsault
,
Camille Laberthonnière
,
Marie-Cécile Gaillard
Article dans une revue
hal-02406985v1
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Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.
Marie-Cécile Gaillard
,
Natacha Broucqsault
,
Julia Morere
,
Camille Laberthonnière
,
Camille Dion
Article dans une revue
hal-01951503v2
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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
Article dans une revue
hal-02140159v1
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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
Article dans une revue
hal-02140150v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
Karine Nguyen
,
Francesca Puppo
,
Stéphane Roche
,
Marie-Cécile Gaillard
,
Charlene Chaix
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
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
Article dans une revue
hal-01610019v1
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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
Article dans une revue
hal-01662672v1
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