المؤلفون: Camille Laberthonnière, Marie-Cécile Gaillard, Natacha Broucqsault, Cherif Badja, Stéphane Roche, Jérôme D. Robin, Julia Morere, Karine Nguyen, Frédérique Magdinier, Camille Dion

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Scientific Reports
Scientific Reports, Nature Publishing Group, 2019, ⟨10.1038/s41598-019-46861-x⟩
Scientific Reports, 2019, 1, ⟨10.1038/s41598-019-46861-x⟩
Scientific Reports, Vol 9, Iss 1, Pp 1-15 (2019)

مصطلحات موضوعية: Male, Chromosomal Proteins, Non-Histone, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Gene Expression, lcsh:Medicine, Diseases, Pathogenesis, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], 0302 clinical medicine, Gene expression, lcsh:Science, In Situ Hybridization, Fluorescence, Genetics, 0303 health sciences, Middle Aged, Cadherins, Subtelomere, Chromatin, Muscular Dystrophy, Facioscapulohumeral, Epigenetics, Female, Chromosomes, Human, Pair 4, Adult, Adolescent, Induced Pluripotent Stem Cells, Locus (genetics), Biology, Chromatin structure, Article, Young Adult, 03 medical and health sciences, Imaging, Three-Dimensional, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Humans, Muscle, Skeletal, Gene, Aged, 030304 developmental biology, lcsh:R, Infant, Dystrophy, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Fibroblasts, Chromosome 4, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Case-Control Studies, Mutation, lcsh:Q, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd636a86000d8f6d6952d1613d637c7Test
https://hal.archives-ouvertes.fr/hal-01951503v2/documentTest

المؤلفون: Natacha Broucqsault, Cherif Badja, Marie-Cécile Gaillard, Frédérique Magdinier

المصدر: Organism Models of Autism Spectrum Disorders ISBN: 9781493922499

مصطلحات موضوعية: Epigenetic regulation of neurogenesis, Epigenetics, Biology, Neuroscience, Pathological

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9a40c8ac2eca863731929e9b4884a147Test
https://doi.org/10.1007/978-1-4939-2250-5_7Test

المؤلفون: Frédérique Magdinier, Rafaëlle Bernard, Stéphane Roche, Emmanuelle Salort-Campana, Natacha Broucqsault, Julia Morere, Marie-Cécile Gaillard, Karine Nguyen, Marc Bartoli, Camille Dion, Nicolas Lévy, Armand Tasmadjian, Francesca Puppo, Catherine Vovan, Gwenaëlle Bouget, Charlene Chaix, Shahram Attarian

المساهمون: Génétique Médicale et Génomique Fonctionnelle (GMGF), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des maladies neuromusculaires et de la SLA, Hôpital de la Timone [CHU - APHM] (TIMONE), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-09-GENO-0038,FSHDecrypt,Analyse à grande échelle de la région 4qTer : décodage génétique et épigénétique du locus de la dystrophie musculaire Facio-Scapulo-Humérale(2009), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Centre National de la Recherche Scientifique (CNRS), Bartoli, Marc, Physiopathologie moléculaire: des maladies rares aux maladies communes - Analyse à grande échelle de la région 4qTer : décodage génétique et épigénétique du locus de la dystrophie musculaire Facio-Scapulo-Humérale - - FSHDecrypt2009 - ANR-09-GENO-0038 - GENO - VALID

المصدر: Neurology
Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩
ResearcherID
Neurology, American Academy of Neurology, 2014, 83 (8), pp.733-742. ⟨10.1212/WNL.0000000000000708⟩

مصطلحات موضوعية: Male, Oncology, Pathology, Penetrance, Epigenesis, Genetic, 0302 clinical medicine, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, DNA methylation, Bisulfite, Methylation, Muscular Dystrophy, Facioscapulohumeral, Pedigree, 3. Good health, Phenotype, Female, Epigenetics, Chromosomes, Human, Pair 4, medicine.symptom, Adult, musculoskeletal diseases, Heterozygote, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Biology, Asymptomatic, MeDIP, Young Adult, 03 medical and health sciences, Internal medicine, [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, medicine, Humans, Genetic Predisposition to Disease, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Genetic Testing, Methylated DNA immunoprecipitation, 030304 developmental biology, FSHD, D4Z4, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), Asymptomatic carrier, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, DNA hypomethylation

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e4412972dca3cbbdd3552b7409a092fTest
https://hal.science/hal-01610019/documentTest

المؤلفون: Nicolas Lévy, J. Morere, Karine Nguyen, Natacha Broucqsault, M.C. Gaillard, Frédérique Magdinier, Stéphane Roche

المصدر: Neuromuscular Disorders. 23:824

مصطلحات موضوعية: musculoskeletal diseases, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, 0303 health sciences, Biology, Subtelomere, Gene product, 03 medical and health sciences, 0302 clinical medicine, Neurology, DUX4, Transcription (biology), Pediatrics, Perinatology and Child Health, Gene expression, Human genome, Neurology (clinical), Epigenetics, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4d6bb1b1511fae5619c99078ab61fc75Test
https://doi.org/10.1016/j.nmd.2013.06.643Test

المؤلفون: Natacha Broucqsault, Sabine Tricot, Patrick Duthilleul, Stéphanie Poulain, Agnès Daudignon, Sylvie Galiègue-Zouitina, Rachid Aijjou, Christophe Roumier, Salomon Manier, Charles Herbaux, Xavier Leleu

المصدر: ResearcherID

مصطلحات موضوعية: Immunology, Promoter, Cell Biology, Hematology, Methylation, Biology, Biochemistry, Suppressor of cytokine signalling, Loss of heterozygosity, Gene expression profiling, DNA methylation, Cancer research, Epigenetics, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26a64efba60a27317ccfc7568de6c9a1Test
https://doi.org/10.1182/blood.v116.21.2481.2481Test