Skip to Main content

Researcher identifiers



Number of documents


Epigenetics, Chromatin and Diseases

Journal articles65 documents

  • Camille Laberthonnière, Elva-María Novoa-Del-Toro, Mégane Delourme, Raphaël Chevalier, Natacha Broucqsault, et al.. Facioscapulohumeral dystrophy weakened sarcomeric contractility is mimicked in induced pluripotent stem cells‐derived innervated muscle fibres. Journal of Cachexia, Sarcopenia and Muscle, Wiley Open Access/Springer Verlag, 2022, 13 (1), pp.621-635. ⟨10.1002/jcsm.12835⟩. ⟨hal-03586975⟩
  • Sophie A. Nothof, Frédérique Magdinier, Julien Van-Gils. Chromatin Structure and Dynamics: Focus on Neuronal Differentiation and Pathological Implication. Genes, 2022, 13 (4), ⟨10.3390/genes13040639⟩. ⟨hal-03678849⟩
  • Camille Dion, Stéphane Roche, Camille Laberthonnière, Natacha Broucqsault, Virginie Mariot, et al.. miR-376a-3p and miR-376b-3p overexpression in Hutchinson-Gilford progeria fibroblasts inhibits cell proliferation and induces premature senescence. iScience, Elsevier, 2022, 25 (2), pp.103757. ⟨10.1016/j.isci.2022.103757⟩. ⟨hal-02002680⟩
  • Frédérique Magdinier. Joining mainstream research on Facioscapulohumeral Dystophy: disease prevalence in China. The Lancet Regional Health - Western Pacific, The Lancet, 2022, 18, pp.100328. ⟨10.1016/j.lanwpc.2021.100328⟩. ⟨hal-03587013⟩
  • Elva-María Novoa-Del-Toro, Efrén Mezura-Montes, Matthieu Vignes, Morgane Térézol, Frédérique Magdinier, et al.. A multi-objective genetic algorithm to find active modules in multiplex biological networks. PLoS Computational Biology, Public Library of Science, 2021, 17 (8), pp.e1009263. ⟨10.1371/journal.pcbi.1009263⟩. ⟨hal-03372492⟩
  • Ahmed Al-Kattan, David Grojo, Christoph Drouet, Alexandros Mouskeftaras, Philippe Delaporte, et al.. Short-Pulse Lasers: A Versatile Tool in Creating Novel Nano-/Micro-Structures and Compositional Analysis for Healthcare and Wellbeing Challenges. Nanomaterials, MDPI, 2021, 11 (3), pp.712. ⟨10.3390/nano11030712⟩. ⟨hal-03167757⟩
  • Camille Laberthonnière, Elva-María Novoa-Del-Toro, Raphaël Chevalier, Natacha Broucqsault, Vanitha Venkoba Rao, et al.. AKT Signaling Modifies the Balance between Cell Proliferation and Migration in Neural Crest Cells from Patients Affected with Bosma Arhinia and Microphthalmia Syndrome. Biomedicines, MDPI, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩. ⟨hal-03280671⟩
  • Julien van Gils, Frédérique Magdinier, Patricia Fergelot, Didier Lacombe. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder. Genes, MDPI, 2021, 12 (7), pp.968. ⟨10.3390/genes12070968⟩. ⟨hal-03280646⟩
  • Ana Nikolic, Takako Jones, Monica Govi, Fabiano Mele, Louise Maranda, et al.. Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies. International Journal of Molecular Sciences, MDPI, 2020, 21 (7), pp.2635. ⟨10.3390/ijms21072635⟩. ⟨hal-03142878⟩
  • Valentina Salsi, Frédérique Magdinier, Rossella Tupler. Does DNA Methylation Matter in FSHD?. Genes, MDPI, 2020, 11 (3), pp.258. ⟨10.3390/genes11030258⟩. ⟨hal-02503971⟩
  • Kilian Mazaleyrat, Cherif Badja, Natacha Broucqsault, Raphaël Chevalier, Camille Laberthonnière, et al.. Multilineage Differentiation for Formation of Innervated Skeletal Muscle Fibers from Healthy and Diseased Human Pluripotent Stem Cells. Cells, MDPI, 2020, 9 (6), pp.1531. ⟨10.3390/cells9061531⟩. ⟨hal-03080368⟩
  • Jérôme Robin-Ducellier, Maria‐sol Jacome Burbano, Han Peng, Olivier Croce, Jean Luc Thomas, et al.. Mitochondrial function in skeletal myofibers is controlled by a TRF2‐SIRT3 axis over lifetime. Aging Cell, Wiley Open Access, 2020, 19 (3), ⟨10.1111/acel.13097⟩. ⟨hal-03080383⟩
  • Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, et al.. Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. International Journal of Molecular Sciences, MDPI, 2020, 21 (6), pp.2221. ⟨10.3390/ijms21062221⟩. ⟨hal-02533845⟩
  • Karine Nguyen, Stéphane Roche, Erwan Donal, Sylvie Odent, Jean-Christophe Eicher, et al.. Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy. Circulation: Genomic and Precision Medicine, American Heart Association, 2019, 12 (5), pp.e002500. ⟨10.1161/CIRCGEN.119.002500⟩. ⟨hal-02140150⟩
  • Chiara Uboldi, Marcos Sanles Sobrido, Elodie Bernard, Virginie Tassistro, Nathalie Herlin-Boime, et al.. In Vitro Analysis of the Effects of ITER-Like Tungsten Nanoparticles: Cytotoxicity and Epigenotoxicity in BEAS-2B Cells. Nanomaterials, MDPI, 2019, From Basic Research to New Tools and Challenges for the Genotoxicity Testing of Nanomaterials, 9 (9), pp.1233. ⟨10.3390/nano9091233⟩. ⟨hal-02352628⟩
  • June Kinoshita, Frédérique Magdinier, George Padberg. 26th Annual Facioscapulohumeral Dystrophy International Research Congress Marseille, France, 19–20 June 2019. Neuromuscular Disorders, Elsevier, 2019, 29 (10), pp.811-817. ⟨10.1016/j.nmd.2019.08.015⟩. ⟨hal-02332748⟩
  • Juliette Bacquet, Frédérique Magdinier, G. Léonetti, C. Bartoli, J. Chiaroni, et al.. Estimation de l'âge médicolégal grâce à l'étude de la méthylation de l'ADN : revue de la littérature. La Revue de Médecine Légale, Elsevier Masson, 2019, ⟨10.1016/j.medleg.2019.07.001⟩. ⟨hal-02407527⟩
  • Stéphane Roche, Camille Dion, Natacha Broucqsault, Camille Laberthonnière, Marie-Cécile Gaillard, et al.. Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism. Neurology Genetics, American Academy of Neurology, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩. ⟨hal-02406985⟩
  • Claire Francastel, Frédérique Magdinier. DNA methylation in satellite repeats disorders. Essays in Biochemistry, Portland Press, 2019, pp.EBC20190028. ⟨10.1042/EBC20190028⟩. ⟨hal-02264755⟩
  • Camille Laberthonnière, Frédérique Magdinier, Jérôme Robin. Bring It to an End: Does Telomeres Size Matter?. Cells, MDPI, 2019, 8 (1), pp.30. ⟨10.3390/cells8010030⟩. ⟨hal-01992677⟩
  • Marie-Cécile Gaillard, Natacha Broucqsault, Julia Morere, Camille Laberthonnière, Camille Dion, et al.. Analysis of the 4q35 chromatin organization reveals distinct long-range interactions in patients affected with Facio-Scapulo-Humeral Dystrophy.. Scientific Reports, Nature Publishing Group, 2019, ⟨10.1038/s41598-019-46861-x⟩. ⟨hal-01951503v2⟩
  • Karine Nguyen, Natacha Broucqsault, Charlene Chaix, Stéphane Roche, Jérôme Robin, et al.. Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy. Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2018-105949⟩. ⟨hal-02140159⟩
  • Christopher Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, et al.. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nature Genetics, Nature Publishing Group, 2017, 49 (2), pp.249-255. ⟨10.1038/ng.3765⟩. ⟨hal-01617529⟩
  • Karine Nguyen, Francesca Puppo, Stéphane Roche, Marie-Cécile Gaillard, Charlene Chaix, et al.. Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy. Human Mutation, Wiley, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩. ⟨hal-01614514⟩
  • Stephanie Simoncini, Anne-Line Château, Stéphane Robert, Dilyana Todorova, Catherine Yzydorzick, et al.. Biogenesis of Pro-senescent Microparticles by Endothelial Colony Forming Cells from Premature Neonates is driven by SIRT1-Dependent Epigenetic Regulation of MKK6. Scientific Reports, Nature Publishing Group, 2017, 7 (1), pp.8277. ⟨10.1038/s41598-017-08883-1⟩. ⟨hal-01663685⟩
  • Jérôme Robin, Frédérique Magdinier. Physiological and Pathological Aging Affects Chromatin Dynamics, Structure and Function at the Nuclear Edge. Frontiers in Genetics, Frontiers, 2016, 7, ⟨10.3389/fgene.2016.00153⟩. ⟨hal-01663651⟩
  • Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Campana Salort, et al.. Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report. BMC Medical Genetics, BioMed Central, 2016, 17, pp.66. ⟨10.1186/s12881-016-0328-9⟩. ⟨hal-01378417⟩
  • Virginie Mariot, S. Roche, Débora Portilho, Sabrina Sacconi, Francesca Puppo, et al.. Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy. Annals of Neurology, Wiley, 2015, 78 (3), pp.387-400. ⟨10.1002/ana.24446⟩. ⟨hal-01431338⟩
  • Soraya Boushaki, Azzedine Tahiat, Yanis Meddour, Koon Wing Chang, Samia Chaib, et al.. Prevalence of BTK mutations in male Algerian patterns with agammaglobulinemia and severe B cell lymphopenia. Clinical Immunology, Elsevier, 2015, 161 (2), pp.286-290. ⟨10.1016/j.clim.2015.09.011⟩. ⟨hal-01663628⟩
  • Emmanuelle Salort Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, et al.. Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study. Orphanet Journal of Rare Diseases, BioMed Central, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩. ⟨hal-01610016⟩
  • Francesca Puppo, Eugénie Dionnet, Marie-Cécile Gaillard, Pascaline Gaildrat, Christel Castro, et al.. Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype. Human Mutation, Wiley, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩. ⟨hal-01662841⟩
  • Débora Portilho, Marcelo Ribeiro Alves, Gueorgui Kratassiouk, Stéphane Roche, Frédérique Magdinier, et al.. miRNA Expression in Control and FSHD Fetal Human Muscle Biopsies. PLoS ONE, Public Library of Science, 2015, 10 (2), pp.e0116853. ⟨10.1371/journal.pone.0116853⟩. ⟨hal-01219803⟩
  • Jérôme Robin, Andrew T Ludlow, Kimberly Batten, Marie-Cécile Gaillard, Guido Stadler, et al.. SORBS2 transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy. Genome Research, Cold Spring Harbor Laboratory Press, 2015, 25 (12), pp.1781 - 1790. ⟨10.1101/gr.190660.115⟩. ⟨hal-01663663⟩
  • Paula Frizera Vassallo, Stephanie Simoncini, Isabelle Ligi, Anne-Line Château, Richard Bachelier, et al.. Accelerated senescence of cord blood endothelial progenitor cells in premature neonates is driven by SIRT1 decreased expression. Blood, American Society of Hematology, 2014, 123 (13), pp.2116 - 2126. ⟨10.1182/blood-2013-02-484956⟩. ⟨hal-01666068⟩
  • Jérôme Robin, Andrew T. Ludlow, Kimberly Batten, Frédérique Magdinier, Guido Stadler, et al.. Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances. Genes and Development, Cold Spring Harbor Laboratory Press, 2014, 28 (22), pp.2464 - 2476. ⟨10.1101/gad.251041.114⟩. ⟨hal-01663660⟩
  • Marie-Cécile Gaillard, Stéphane Roche, Camille Dion, Armand Tasmadjian, Gwenaelle Bouget, et al.. Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers. Neurology, American Academy of Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩. ⟨hal-01610019⟩
  • Irmina Diala, Nicole Wagner, Frédérique Magdinier, Marina Shkreli, Maria Sirakov, et al.. Telomere protection and TRF2 expression are enhanced by the canonical Wnt signalling pathway. EMBO Reports, EMBO Press, 2013, 14 (4), pp.356 - 363. ⟨10.1038/embor.2013.16⟩. ⟨hal-01663630⟩
  • Maxime Ferreboeuf, Virginie Mariot, Bettina Bessières, Alexandre Vasiljevic, Tania Attié-Bitach, et al.. DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles.. Human Molecular Genetics, Oxford University Press (OUP), 2013, 23 (1), epub ahead of print. ⟨10.1093/hmg/ddt409⟩. ⟨hal-00868855⟩
  • Natacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, Julie Dumonceaux, Julia Torrents, et al.. Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy. Human Molecular Genetics, Oxford University Press (OUP), 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩. ⟨hal-01662672⟩
  • Nathalie Caruso, Balàzs Herberth, Marc Bartoli, Francesca Puppo, Julie Dumonceaux, et al.. Deregulation of the protocadherin gene FAT1 alters muscle shapes: implications for the pathogenesis of facioscapulohumeral dystrophy.. PLoS Genetics, Public Library of Science, 2013, 9 (6), pp.e1003550. ⟨10.1371/journal.pgen.1003550⟩. ⟨hal-00862092⟩
  • Amina Boussouar, Caroline Barette, Robert Nadon, Adelaïde Saint-Léger, Natacha Broucqsault, et al.. Acacetin and Chrysin, Two Polyphenolic Compounds, Alleviate Telomeric Position Effect in Human Cells. Molecular Therapy - Nucleic Acids, Elsevier, 2013, 2, pp.e116. ⟨10.1038/mtna.2013.42⟩. ⟨hal-01617538⟩
  • Alessandra Galati, Frédérique Magdinier, Valentina Colasanti, Serge Bauwens, Sébastien Pinte, et al.. TRF2 Controls Telomeric Nucleosome Organization in a Cell Cycle Phase-Dependent Manner. PLoS ONE, Public Library of Science, 2012, 7 (4), pp.e34386. ⟨10.1371/journal.pone.0034386⟩. ⟨hal-03013767⟩
  • Alessandra Galati, Frédérique Magdinier, Valentina Colasanti, Serge Bauwens, Sébastien Pinte, et al.. TRF2 controls telomeric nucleosome organization in a cell cycle phase-dependent manner.. PLoS ONE, Public Library of Science, 2012, 7 (4), pp.e34386. ⟨10.1371/journal.pone.0034386⟩. ⟨pasteur-00974843⟩
  • Thomas Simonet, Laure-Emmanuelle Saragosi, Claude Philippe, Kevin Lebrigand, Clémentine Schouteden, et al.. The human TTAGGG repeat factors 1 and 2 bind to a subset of interstitial telomeric sequences and satellite repeats. Cell Research, Nature Publishing Group, 2011, 21, pp.1028-1038. ⟨10.1038/cr.2011.40⟩. ⟨ensl-00815016⟩
  • Jing Ye, Christelle Lenain, Serge Bauwens, Angela Rizzo, Adelaïde Saint-Léger, et al.. TRF2 and Apollo Cooperate with Topoisomerase 2α to Protect Human Telomeres from Replicative Damage. Cell, Elsevier, 2010, 142 (2), pp.230-242. ⟨10.1016/j.cell.2010.05.032⟩. ⟨ensl-00817706⟩
  • Nausicaa Arnoult, Caroline Schluth-Bolard, Anne Letessier, Irena Drascovic, Rachida Bouarich-Bourimi, et al.. Replication Timing of Human Telomeres Is Chromosome Arm-Specific, Influenced by Subtelomeric Structures and Connected to Nuclear Localization. PLoS Genetics, Public Library of Science, 2010, 6 (4), pp.e1000920. ⟨ensl-00815144⟩
  • Claire Falandry, Geneviève Fourel, Vincent Galy, Tutik Ristriani, Béatrice Horard, et al.. CLLD8/KMT1F Is a Lysine Methyltransferase That Is Important for Chromosome Segregation. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2010, 285, pp.20234-20241. ⟨ensl-00815661⟩
  • Alexandre Ottaviani, Caroline Schluth-Bolard, Eric Gilson, Frédérique Magdinier. D4Z4 as a prototype of CTCF and lamins-dependent insulator in human cells. Nucleus, European Nuclear Society, 2010, 1 (1), pp.30-36. ⟨ensl-00817391⟩
  • Isabelle Ourliac-Garnier, Anaïs Poulet, Razan Charif, Simon Amiard, Frédérique Magdinier, et al.. Platination of telomeric DNA by cisplatin disrupts recognition by TRF2 and TRF1. Journal of Biological Inorganic Chemistry, Springer Verlag, 2010, 15 (5), pp.641-654. ⟨ensl-00817412⟩
  • Alexandre Ottaviani, Caroline Schluth-Bolard, Sylvie Rival-Gervier, Amina Boussouar, Delphine Rondier, et al.. Identification of a perinuclear positioning element in human subtelomeres that requires A-type lamins and CTCF. EMBO Journal, EMBO Press, 2009, 28, pp.2428 - 2436. ⟨10.1038/emboj.2009.201⟩. ⟨hal-01663788⟩
  • Béatrice Horard, Angéline Eymery, Geneviève Fourel, Nikita Vassetzky, Jacques Puechberty, et al.. Global analysis of DNA methylation and transcription of human repetitive sequences.. Epigenetics, Taylor & Francis, 2009, 4 (5), pp.339-50. ⟨10.4161/epi.4.5.9284⟩. ⟨hal-00851248⟩
  • Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea M Foerster, Delphine Rondier, et al.. The D4Z4 Macrosatellite Repeat Acts as a CTCF and A-Type Lamins-Dependent Insulator in Facio-Scapulo-Humeral Dystrophy. PLoS Genetics, Public Library of Science, 2009, 5 (2), 18 p. ; e1000394. ⟨10.1371/journal.pgen.1000394⟩. ⟨hal-01663636⟩
  • Alexandre Ottaviani, Eric Gilson, Frédérique Magdinier. Telomeric position effect: From the yeast paradigm to human pathologies?. Biochimie, Elsevier, 2008, 90 (1), pp.93 - 107. ⟨10.1016/j.biochi.2007.07.022⟩. ⟨hal-01663623⟩
  • Alexandre Ottaviani, Eric Gilson, Frédérique Magdinier. Telomeric position effect: From the yeast paradigm to human pathologies?. Biochimie, Elsevier, 2007, 90 (1), pp.93-107. ⟨hal-02655069⟩
  • Emilie Auriol, Lise-Marie Billard, Frédérique Magdinier, Robert Dante. Specific binding of the methyl binding domain protein 2 at the BRCA1-NBR2 locus. Nucleic Acids Research, Oxford University Press, 2005, 33 (13), pp.4243-4254. ⟨10.1093/nar/gki729⟩. ⟨hal-01663899⟩
  • Pierre-Antoine Defossez, Kevin F. Kelly, Guillaume J. P. Filion, Roberto Pérez-Torrado, Frédérique Magdinier, et al.. The Human Enhancer Blocker CTC-binding Factor Interacts with the Transcription Factor Kaiso. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2005, 280 (52), pp.43017-43023. ⟨10.1074/jbc.M510802200⟩. ⟨hal-01663916⟩
  • G. Felsenfeld, B. Burgess-Beusse, C. Farrell, M. Gaszner, R. Ghirlando, et al.. Chromatin Boundaries and Chromatin Domains. Cold Spring Harbor Symposia on Quantitative Biology, Cold Spring Harbor Laboratory; 1999, 2004, 69, pp.245-250. ⟨10.1101/sqb.2004.69.245⟩. ⟨hal-01663828⟩
  • Frédérique Magdinier, Timur M. Yusufzai, Gary Felsenfeld. Both CTCF-dependent and -independent Insulators Are Found between the Mouse T Cell Receptor α and Dad1 Genes. Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2004, 279 (24), pp.25381-25389. ⟨10.1074/jbc.M403121200⟩. ⟨hal-01663904⟩
  • Geneviève Fourel, Frédérique Magdinier, Eric Gilson. Insulator dynamics and the setting of chromatin domains. BioEssays, Wiley-VCH Verlag, 2004, 26 (5), pp.523-532. ⟨10.1002/bies.20028⟩. ⟨hal-01663885⟩
  • Lise-Marie Billard, Frédérique Magdinier, Gilbert M. Lenoir, Lucien Frappart, Robert Dante. MeCP2 and MBD2 expression during normal and pathological growth of the human mammary gland. Oncogene, Nature Publishing Group, 2002, 21, pp.2704-2712. ⟨10.1038/sj.onc.1205357⟩. ⟨hal-01663809⟩
  • Frédérique Magdinier, Alan P. Wolffe. Selective association of the methyl-CpG binding protein MBD2 with the silent p14/p16 locus in human neoplasia. Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2001, 98 (9), pp.4990-4995. ⟨10.1073/pnas.101617298⟩. ⟨hal-01663920⟩
  • Frédérique Magdinier, Lise-Marie Billard, Gaelle Wittmann, Lucien Frappart, Mehdi Benchai, et al.. Regional methylation of the 5 end CpG island of BRCA1 is associated with reduced gene expression in human somatic cells. FASEB Journal, Federation of American Society of Experimental Biology, 2000, 14 (11), pp.1585-1594. ⟨10.1096/fj.99-0817com⟩. ⟨hal-01663881⟩
  • Frédérique Magdinier, Nicole Dalla Venezia, Gilbert M. Lenoir, Lucien Frappart, Robert Dante. BRCA1 expression during prenatal development of the human mammary gland. Oncogene, Nature Publishing Group, 1999, 18 (27), pp.4039-4043. ⟨10.1038/sj.onc.1202780⟩. ⟨hal-01663803⟩
  • Frédérique Magdinier, Stéphane Ribieras, Gilbert M Lenoir, Lucien Frappart, Robert Dante. Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region. Oncogene, Nature Publishing Group, 1998, 17 (24), pp.3169-3176. ⟨10.1038/sj.onc.1202248⟩. ⟨hal-01663794⟩
  • Stéphane Ribieras, Frédérique Magdinier, Delphine Leclerc, Gilbert M. Lenoir, Lucien Frappart, et al.. ABUNDANCE OF BRCA1 TRANSCRIPTS IN HUMAN CANCER AND LYMPHOBLASTOID CELL LINES CARRYING BRCA1 GERM-LINE ALTERATIONS. International Journal of Cancer, Wiley, 1997, 73 (5), pp.715-718. ⟨10.1002/(SICI)1097-0215(19971127)73:5<715::AID-IJC17>3.0.CO;2-4⟩. ⟨hal-01663921⟩

Conference papers5 documents

  • Adrien Casanova, Lucas Duvert, Jérôme Robin, Frédérique Magdinier, Philippe Delaporte, et al.. Laser-Induced printing of stem cells: a powerful tool for biological applications. 4th International conference on 3D printing & bioprinting, Al, Digital manufacturing & additive manufacturing, Jul 2021, Thessaloniki, Greece. ⟨hal-03543363⟩
  • Anne-Line A-L Chateau, Stephanie Simoncini, N Baschet, Stephane Robert, L Ligi, et al.. SIRT1 Deficiency in endothelial progenitor cells drives pro-senescent microparticles release through MKK6 upregulation . ISTH 2016 SSC, May 2016, MONTPELLIER, France. pp.139. ⟨hal-01463803⟩
  • M Ferreboeuf, V. Mariot, B. Bessières, A Vasiljevic, Tania Attié-Bitach, et al.. DUX 4 and DUX4 downstream target genes are expressed in fetal FSHD muscles. 18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.823, ⟨10.1016/j.nmd.2013.06.640⟩. ⟨hal-01907613⟩
  • Natacha Broucqsault, Stéphane Roche, Julia Morere, Marie-Cécile Gaillard, Nicolas Levy, et al.. Modification of 4q35 and muscular gene expression in fetuses carrying a shortened D4Z4 array linked to FSHD. 18th International Congress of The World Muscle Society, Oct 2013, Pacific Grove, CA, United States. pp.824, ⟨10.1016/j.nmd.2013.06.643⟩. ⟨hal-01907599⟩
  • Sylvie Rival-Gervier, Alexandre Ottaviana, Andrea M. Foerster, Eric Gilson, Frédérique Magdinier. The D4Z4 subtelomeric element behaves as a CTCF-dependent insulator and anchors telomeres to the nuclear periphery.. 11. Congres International de la "World Muscle Society", Oct 2006, Bruges, Belgium. 1p. ⟨hal-02816093⟩

Poster communications6 documents

  • Karine Nguyen, Francesca Puppo, Natacha Broucqsault, Stéphane Roche, Charlene Chaix, et al.. L’apport du peignage moléculaire pour révéler la variabilité génétique et la complexité du diagnostic moléculaire dans la dystrophie Facio-Scapulo Humérale.. 9ème édition des Assises de Génétique Humaine et Médicale, Jan 2018, Nante, France. 2018. ⟨hal-01695264⟩
  • Marie-Cécile Gaillard, Francesca Puppo, Stéphane Roche, Camille Dion, Emmanuelle Salort-Campana, et al.. Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy. 13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. 2015. ⟨hal-01688694⟩
  • Marie-Cécile Gaillard, Camille Dion, Francesca Puppo, Marc Bartoli, Karine N'Guyen, et al.. DNA Methylation-based diagnosis of Facio Scapulo Humeral Dystrophy. EMBO Conference - Chromatine and Epigenetics, May 2015, Heidelberg, Germany. ⟨hal-01676426⟩
  • Cherif Badja, Marie-Cécile Gaillard, Claire El-Yazidi, Marc Bartoli, Stéphane Roche, et al.. DIRECT AND EFFICIENT DERIVATION OF SKELETAL MUSCLE CELLS FROM HUMAN INDUCED PLURIPOTENT STEM CELLS. International Society For Stem Cell Research - Annual Meeting, Jun 2015, Stockholm, Sweden. ⟨hal-01676453⟩
  • Camille Dion, Marie-Cécile Gaillard, Arnaud Lagarde, Cherif Badja, Armand Tasmadjian, et al.. 3D nuclear topology dynamics of the 4q35 subtelomeric region linked to Facio-Scapulo-Humeral Dystrophy in skeletal muscle cells and hiPSC. EMBO Conference - Chromatin and Epigenetics, May 2015, Heidelberg, Germany. ⟨hal-01675614⟩
  • Marie-Cécile Gaillard, Natacha Broucqsault, C Chaix, C Vovan, Stéphane Roche, et al.. Analyses de profils épigénétiques dans la dystrophie facio-scapulo-humérale : de la méthylation de l’ADN vers des corrélations génotype-phénotype. Xeme Journées Annuelles de la Société Francaise de Myologie & Colloque de Myogenèse, Nov 2012, Grenoble, France. 2012. ⟨hal-01688662⟩

Book sections1 document

  • Mégane Delourme, Natacha Broucqsault, Kilian Mazaleyrat, Frédérique Magdinier. Production of Innervated Skeletal Muscle Fibers Using Human Induced Pluripotent Stem Cells. Methods in Molecular Biology, 2020, ⟨10.1007/7651_2020_334⟩. ⟨hal-03142891⟩

Patents2 documents

  • Frédérique Magdinier, Eric Gilson, Alexandre Ottaviani, Sylvie Rival-Gervier. Polynucléotides isolants issus de l'élément D4Z4 et leurs utilisations dans la transgénèse. N° de brevet: WO2009016206. 2009, n.p. ⟨hal-02818720⟩
  • Frédérique Magdinier, Eric Gilson, Alexandre Ottaviani, Sylvie Rival-Gervier. Polynucléotides insulateurs dérivés de l'élément D4Z4 et leurs utilisations dans la transgénèse. N° de brevet: FR2919616. 2009, n.p. ⟨hal-02824327⟩

Preprints, Working Papers, ...2 documents

  • Camille Laberthonnière, Raphaël Chevalier, Camille Dion, Mégane Delourme, David Hirst, et al.. SMCHD1 variants may induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome. 2022. ⟨hal-03634209⟩
  • Elva-María Novoa-Del-Toro, Efrén Mezura-Montes, Matthieu Vignes, Frédérique Magdinier, Laurent Tichit, et al.. A Multi-Objective Genetic Algorithm to Find Active Modules in Multiplex Biological Networks. 2020. ⟨hal-02997031⟩