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Frederique Magdinier

11

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Identifiants chercheurs

frederique-magdinier
ResearcherId : I-4735-2016
0000-0002-0159-9559
IdRef : 157603660
ResearcherId : http://www.researcherid.com/rid/I-4735-2016

Présentation

Publications

779245

	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
	Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells Kilian Mazaleyrat , Cherif Badja , Natacha Broucqsault , Raphaël Chevalier , Camille Laberthonnière Cells, 2020, 9 (6), pp.1531. ⟨10.3390/cells9061531⟩ Article dans une revue hal-03080368v1
	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
	De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development Christopher Gordon , Shifeng Xue , Gökhan Yigit , Hicham Filali , Kelan Chen Nature Genetics, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩ Article dans une revue hal-01617529v1
	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
	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

	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
	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

	SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome Camille Laberthonnière , Raphaël Chevalier , Camille Dion , Mégane Delourme , David Hirst 2022 Pré-publication, Document de travail hal-03634209v1