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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
,
et al.
Article dans une revue
hal-02406985v1
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L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.
Karine Nguyen
,
Francesca Puppo
,
Natacha Broucqsault
,
Stéphane Roche
,
Charlene Chaix
,
et al.
9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. , 2018
Poster de conférence
hal-01695264v1
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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
,
et al.
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
,
et al.
Article dans une revue
hal-01610019v1
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Protein tyrosine kinase 7 has a conserved role in Wnt/β-catenin canonical signalling.
Francesca Puppo
,
Virginie Thomé
,
Anne-Catherine Lhoumeau
,
Marie Cibois
,
Akanksha Gangar
,
et al.
Article dans une revue
hal-00848891v1
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Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
Eugénie Dionnet
,
Aurélia Defour
,
Nathalie da Silva
,
Alexandra Salvi
,
Nicolas Levy
,
et al.
Article dans une revue
hal-02959280v1
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Protein tyrosine kinase 7 has a conserved role in Wnt/beta-catenin canonical signalling
Francesca Puppo
,
V. Thome
,
A. C. Lhoumeau
,
M. Cibois
,
A. Gangar
,
et al.
Article dans une revue
hal-00566856v1
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DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy
Marie-Cécile Gaillard
,
Camille Dion
,
Francesca Puppo
,
Marc Bartoli
,
Karine N'Guyen
,
et al.
EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany
Poster de conférence
hal-01676426v1
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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
,
et al.
Article dans une revue
hal-00862092v1
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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
,
et al.
Article dans une revue
hal-01378417v1
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PTK7: A cell polarity receptor with multiple facets
A. C. Lhoumeau
,
Francesca Puppo
,
T. Prebet
,
L. Kodjabachian
,
Borg J. P.
Cell Cycle, 2011, 10 (8), pp.1233-1236
Article dans une revue
hal-00630186v1
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PTK7: a cell polarity receptor with multiple facets.
Anne-Catherine Lhoumeau
,
Francesca Puppo
,
Thomas Prébet
,
Laurent Kodjabachian
,
Jean-Paul Borg
Cell Cycle, 2011, 10 (8), pp.1233-6
Article dans une revue
hal-00848894v1
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Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population
Mathieu Cerino
,
Patricio Gonzalez-Hormazabal
,
Mario Abaji
,
Sebastien Courrier
,
Francesca Puppo
,
et al.
Article dans une revue
hal-03780367v1
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Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy
Karine Nguyen
,
Francesca Puppo
,
Stéphane Roche
,
Marie-Cécile Gaillard
,
Charlene Chaix
,
et al.
Article dans une revue
hal-01614514v1
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Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy
Marie-Cécile Gaillard
,
Francesca Puppo
,
Stéphane Roche
,
Camille Dion
,
Emmanuelle Salort-Campana
,
et al.
13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015
Poster de conférence
hal-01688694v1
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Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy
Virginie Mariot
,
S. Roche
,
Débora Portilho
,
Sabrina Sacconi
,
Francesca Puppo
,
et al.
Article dans une revue
hal-01431338v1
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