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Stephane Roche

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frederique-magdinier

	SMCHD1 is involved in de novo methylation of theDUX4-encoding D4Z4 macrosatellite Camille Dion , Stéphane Roche , Camille Laberthonnière , Natacha Broucqsault , Virginie Mariot iScience, 2022, 25 (2), pp.103757. ⟨10.1093/nar/gkz005⟩ Article dans une revue hal-02002680v1
	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
	In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells Chiara Uboldi , Marcos Sanles Sobrido , Elodie Bernard , Virginie Tassistro , Nathalie Herlin-Boime Nanomaterials, 2019, From Basic Research to New Tools and Challenges for the Genotoxicity Testing of Nanomaterials, 9 (9), pp.1233. ⟨10.3390/nano9091233⟩ Article dans une revue hal-02352628v1
	Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩ Article dans une revue hal-02406985v1
	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 Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩ Article dans une revue hal-01951503v2
	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
	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
	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
	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
	Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy Virginie Mariot , S. Roche , Débora Portilho , Sabrina Sacconi , Francesca Puppo Annals of Neurology, 2015, 78 (3), pp.387-400. ⟨10.1002/ana.24446⟩ Article dans une revue hal-01431338v1
	miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies Débora Portilho , Marcelo Ribeiro Alves , Gueorgui Kratassiouk , Stéphane Roche , Frédérique Magdinier PLoS ONE, 2015, 10 (2), pp.e0116853. ⟨10.1371/journal.pone.0116853⟩ Article dans une revue hal-01219803v1
	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
	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
	DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. Maxime Ferreboeuf , Virginie Mariot , Bettina Bessières , Alexandre Vasiljevic , Tania Attié-Bitach Human Molecular Genetics, 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩ Article dans une revue hal-00868855v1
	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

	DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles M Ferreboeuf , V. Mariot , B. Bessières , A Vasiljevic , Tania Attié-Bitach 18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩ Communication dans un congrès hal-01907613v1
	Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD Natacha Broucqsault , Stéphane Roche , Julia Morere , Marie-Cécile Gaillard , Nicolas Levy 18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.824, ⟨10.1016/j.nmd.2013.06.643⟩ Communication dans un congrès hal-01907599v1

	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 9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. , 2018 Poster de conférence hal-01695264v1
	DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy Marie-Cécile Gaillard , Camille Dion , Francesca Puppo , Marc Bartoli , Karine N'Guyen EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany Poster de conférence hal-01676426v1
	3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC Camille Dion , Marie-Cécile Gaillard , Arnaud Lagarde , Cherif Badja , Armand Tasmadjian EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany Poster de conférence hal-01675614v1
	DIRECT AND EFFICIENT DERIVATION OF SKELETAL MUSCLE CELLS FROM HUMAN INDUCED PLURIPOTENT STEM CELLS Cherif Badja , Marie-Cécile Gaillard , Claire El-Yazidi , Marc Bartoli , Stéphane Roche International Society For Stem Cell Research - Annual Meeting, Jun 2015, Stockholm, Sweden. Poster de conférence hal-01676453v1
	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 13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015 Poster de conférence hal-01688694v1
	Analyses de profils épigénétiques dans la dystrophie facio-scapulo-humérale : de la méthylation de l’ADN vers des corrélations génotype-phénotype Marie-Cécile Gaillard , Natacha Broucqsault , C Chaix , C Vovan , Stéphane Roche Xeme Journées Annuelles de la Société Francaise de Myologie & Colloque de Myogenèse, Nov 2012, Grenoble, France. , 2012 Poster de conférence hal-01688662v1