-
1
المؤلفون: Bruno Reversade, Anaïs Baudot, Jean Philippe Trani, Frédérique Magdinier, Shifeng Xue, Karine Nguyen, Jérôme D. Robin, Vanitha Venkoba Rao, Elva Maria Novoa-Del-Toro, Camille Laberthonnière, Raphaël Chevalier, Natacha Broucqsault
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), 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), Reversade, Bruno, Laberthonnière, C., Novoa-Del-Toro, E. M., Chevalier, R., Broucqsault, N., Rao, V. V., Trani, J. P., Nguyen, K., Xue, S., Robin, J. D., Baudot, A., Magdinier, F., School of Medicine, ACS - Heart failure & arrhythmias, ARD - Amsterdam Reproduction and Development
المصدر: Biomedicines
Volume 9
Issue 7
Biomedicines, MDPI, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩
Biomedicines, Vol 9, Iss 751, p 751 (2021)
Biomedicines, 2021, 9 (7), pp.751. ⟨10.3390/biomedicines9070751⟩
Biomedicines, 9(7):751. MDPI AGمصطلحات موضوعية: QH301-705.5, [SDV]Life Sciences [q-bio], Medicine (miscellaneous), Biology, medicine.disease_cause, Microphthalmia, General Biochemistry, Genetics and Molecular Biology, Article, Transcriptome, 03 medical and health sciences, 0302 clinical medicine, medicine, RNA-Seq, Biology (General), Induced pluripotent stem cell, Protein kinase B, Biochemistry, Molecular biology, Research and experimental medicine, Pharmacology, Pharmacy, 030304 developmental biology, 0303 health sciences, Mutation, [SDV.GEN]Life Sciences [q-bio]/Genetics, Bosma Arhinia and Microphthalmia Syndrome, SMCHD1, Neural crest, medicine.disease, Phenotype, Cell biology, Induced pluripotent stem cells, Facio Scapulo Humeral Dystrophy, RNA-Seqneural crest stem cells, Systems biology, Stem cell, Neural crest stem cells, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
وصف الملف: application/pdf; text/academic publication
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0adb94ab76a315ee460ccb96f965a57bTest
http://www.scopus.com/inward/record.url?scp=85109493277&partnerID=8YFLogxKTest -
2
المؤلفون: Jerry W. Shay, Fedik Rahimov, Oliver D. King, Charles P. Emerson, Kathryn R. Wagner, Jérôme D. Robin, Jennifer C. J. Chen, Woodring E. Wright, Guido Stadler
المصدر: Nature structural & molecular biology
مصطلحات موضوعية: musculoskeletal diseases, Senescence, Telomerase, muscle, Biology, Article, Myoblasts, 03 medical and health sciences, 0302 clinical medicine, telomere shortening, DUX4, Structural Biology, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Molecular Biology, Cells, Cultured, 030304 developmental biology, Homeodomain Proteins, Genetics, Regulation of gene expression, 0303 health sciences, D4Z4 repeats, aging, Telomere, medicine.disease, Phenotype, Muscular Dystrophy, Facioscapulohumeral, Up-Regulation, Cell biology, chromosome 4q, Gene Expression Regulation, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ee0808d752160d36c5aace1f3bf5e72Test
https://doi.org/10.1038/nsmb.2571Test -
3
المؤلفون: Jerry W. Shay, Woodring E. Wright, Kimberly Batten, Andrew T. Ludlow, Marie Cécile Gaillard, Frédérique Magdinier, Jérôme D. Robin, Guido Stadler
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), Department of Cell Biology, University of Texas Southwestern Medical Center [Dallas], University of Texas Southwestern Medical Center (UTSW), Magdinier, Frederique
المصدر: Genome Research
Genome Research, Cold Spring Harbor Laboratory Press, 2015, 25 (12), pp.1781-1790. ⟨10.1101/gr.190660.115⟩
Genome Research, 2015, 25 (12), pp.1781-1790. ⟨10.1101/gr.190660.115⟩مصطلحات موضوعية: Transcriptional Activation, Biopsy, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Myoblasts, Chromosome conformation capture, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscle, Skeletal, Enhancer, In Situ Hybridization, Fluorescence, Telomere Shortening, Genetics (clinical), Adaptor Proteins, Signal Transducing, MyoD Protein, 030304 developmental biology, Homeodomain Proteins, Regulation of gene expression, Muscle Cells, 0303 health sciences, Myogenesis, Research, RNA-Binding Proteins, Epistasis, Genetic, DNA Methylation, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Chromatin, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Genetic Loci, DNA methylation, Chromosome Deletion, Chromosomes, Human, Pair 4, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082cfb8d84c6847842d29630ff57761eTest
https://hal-amu.archives-ouvertes.fr/hal-01663663/documentTest -
4
المصدر: Rare Diseases
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, DUX4, Compound heterozygosity, compound heterozygotes, 03 medical and health sciences, 0302 clinical medicine, Medicine, Facioscapulohumeral muscular dystrophy, Myopathy, D4Z4 contractions, 030304 developmental biology, Genetics, 0303 health sciences, multifactorial, business.industry, Haplotype, General Engineering, Skeletal muscle, Complex genetics, medicine.disease, Telomere, Addendum, medicine.anatomical_structure, Age of onset, medicine.symptom, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab37bc545d4bd4280dfc4c9862e5380Test
https://pubmed.ncbi.nlm.nih.gov/25003004Test -
5
المؤلفون: Kathryn R. Wagner, Jennifer C. J. Chen, Jerry W. Shay, Guido Stadler, Jérôme D. Robin, Charles P. Emerson, Woodring E. Wright
المصدر: Skeletal Muscle, Vol 1, Iss 1, p 12 (2011)
Skeletal Muscleمصطلحات موضوعية: Cell type, Telomerase, lcsh:Diseases of the musculoskeletal system, Population, Biology, 03 medical and health sciences, 0302 clinical medicine, medicine, Myocyte, Facioscapulohumeral muscular dystrophy, Orthopedics and Sports Medicine, Telomerase reverse transcriptase, Myopathy, education, Molecular Biology, 030304 developmental biology, Genetics, 0303 health sciences, education.field_of_study, Research, Cell Biology, medicine.disease, Telomere, Cell biology, lcsh:RC925-935, medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32af159451b8735ba5533f52b795e2ccTest
https://doi.org/10.1186/2044-5040-1-12Test -
6
المؤلفون: Jerry W. Shay, Andrew T. Ludlow, Frédérique Magdinier, Guido Stadler, Woodring E. Wright, Jérôme D. Robin
المصدر: Neuromuscular Disorders. 23:824
مصطلحات موضوعية: Genetics, Candidate gene, Telomeric heterochromatin, Biology, Subtelomere, medicine.disease, Telomere, Neurology, Pediatrics, Perinatology and Child Health, medicine, Facioscapulohumeral muscular dystrophy, Telomerase reverse transcriptase, Neurology (clinical), Allele, Gene, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59b66f9578d81ce8181cfc311aab14b7Test
https://doi.org/10.1016/j.nmd.2013.06.644Test
