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Rafaëlle Bernard

Aix-Marseille University

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Distrofia muscolare facio-scapolo-omerale

2021 EMC - Neurologia
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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

2020 International Journal of Molecular Sciences
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Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

2019 Neurology Genetics
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Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

2019 Journal of Medical Genetics
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The French National Registry of patients with Facioscapulohumeral muscular dystrophy

2018 Orphanet Journal of Rare Diseases
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

2017 Human Mutation
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Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

2016 BMC Medical Genetics
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Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

2015 Orphanet Journal of Rare Diseases
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Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy

2015
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Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

2015 Clinical Genetics
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Citations (11)