المؤلفون: Michael S. Chung, Maéva Langouët, Stormy J. Chamberlain, Gordon G. Carmichael

المصدر: Open Biology, Vol 10, Iss 9 (2020)

مصطلحات موضوعية: prader-willi syndrome, imprinting, non-coding rna, neurodevelopmental disorder, snorna, epigenetics, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2046-2441

URL الوصول: https://doaj.org/article/8f60d06192414a5ab3ae32c3b55eb6ee

المؤلفون: Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D. Gearhart, Stephen P. Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D. Rendtorff, Karen Grønskov, Catherine Jespersgaard, Rui Chen, Zixi Sun, Hui Li, Najmeh Alirezaie, Jacek Majewski, Vivian J. Bardwell, Ruifang Sui, Robert K. Koenekoop, Michel Cayouette

المصدر: Science Advances. 8

مصطلحات موضوعية: Multidisciplinary

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::76424388799c8d3c69b887e5c430c544
https://doi.org/10.1126/sciadv.abh2868

المؤلفون: Maéva, Langouët, Christine, Jolicoeur, Awais, Javed, Pierre, Mattar, Micah D, Gearhart, Stephen P, Daiger, Mette, Bertelsen, Lisbeth, Tranebjærg, Nanna D, Rendtorff, Karen, Grønskov, Catherine, Jespersgaard, Rui, Chen, Zixi, Sun, Hui, Li, Najmeh, Alirezaie, Jacek, Majewski, Vivian J, Bardwell, Ruifang, Sui, Robert K, Koenekoop, Michel, Cayouette

المصدر: Science advances. 8(36)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f1f63ad03990eb0680b90dc00d2333e6
https://pubmed.ncbi.nlm.nih.gov/36070393

المؤلفون: Dea Gorka, Noelle D. Germain, Clémence M Dupont-Thibert, Stormy J. Chamberlain, Michael S Chung, Christopher E Stoddard, Marc Lalande, Leann Crandall, Heather Glatt-Deeley, Justin Cotney, Maéva Langouët, Clarisse Orniacki

المصدر: Hum Mol Genet

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Induced Pluripotent Stem Cells, Kruppel-Like Transcription Factors, Locus (genetics), Biology, 03 medical and health sciences, 0302 clinical medicine, Gene expression, Genetics, Humans, RNA, Small Nucleolar, Epigenetics, Allele, Induced pluripotent stem cell, Molecular Biology, Gene, Psychological repression, Genetics (clinical), Neurons, Zinc finger, nutritional and metabolic diseases, General Medicine, Cell biology, RNA, Messenger, Stored, Histone, 030104 developmental biology, biology.protein, Female, General Article, Prader-Willi Syndrome, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e090dcc69a9af64abdc62919e92d22d8
https://doi.org/10.1093/hmg/ddaa210

المؤلفون: Stormy J. Chamberlain, Gordon G. Carmichael, Michael S Chung, Maéva Langouët

المصدر: Open Biology
Open Biology, Vol 10, Iss 9 (2020)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, RNA, Untranslated, non-coding RNA, Immunology, Locus (genetics), Review, Review Article, Biology, snoRNA, Contiguous gene syndrome, General Biochemistry, Genetics and Molecular Biology, Epigenesis, Genetic, Genomic Imprinting, 03 medical and health sciences, 0302 clinical medicine, Angelman syndrome, medicine, Humans, Epigenetics, Allele, Imprinting (psychology), lcsh:QH301-705.5, Genetic Association Studies, 030304 developmental biology, Genetics, Chromosomes, Human, Pair 15, 0303 health sciences, epigenetics, General Neuroscience, Disease Management, nutritional and metabolic diseases, medicine.disease, neurodevelopmental disorder, Uniparental disomy, nervous system diseases, Phenotype, lcsh:Biology (General), Gene Expression Regulation, Genetic Loci, Disease Susceptibility, Prader-Willi syndrome, imprinting, Genomic imprinting, Biomarkers, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55a7b11c7d3bc7c9ff370a776c7523c6
https://doi.org/10.1098/rsob.200195

المؤلفون: Maéva Langouët, Michael S. Chung, Christopher E Stoddard, Erin Banda, Marc Lalande, Leann Crandall, Heather Glatt-Deeley, Elodie Mathieux, Clémence M Dupont-Thibert

المصدر: Human Molecular Genetics. 27:505-515

مصطلحات موضوعية: 0301 basic medicine, Chromatin Immunoprecipitation, congenital, hereditary, and neonatal diseases and abnormalities, Induced Pluripotent Stem Cells, Kruppel-Like Transcription Factors, 030105 genetics & heredity, Epigenesis, Genetic, Genomic Imprinting, Mice, 03 medical and health sciences, Histone H3, Genetics, Animals, Epigenetics, Imprinting (psychology), Induced pluripotent stem cell, Molecular Biology, Alleles, Cells, Cultured, Genetics (clinical), Mice, Knockout, Zinc finger, biology, nutritional and metabolic diseases, Histone-Lysine N-Methyltransferase, General Medicine, DNA Methylation, nervous system diseases, Cell biology, 030104 developmental biology, Histone, DNA methylation, biology.protein, Genomic imprinting, Prader-Willi Syndrome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::935c17f797a7001137ae1cd30b1814ac
https://doi.org/10.1093/hmg/ddx420

المؤلفون: Steven A. Brown, Laurence Colleaux, Marlène Rio, Dennis Mircsof, Maéva Langouët, Jeanne Amiel

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), University of Zurich, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP]

المصدر: médecine/sciences
médecine/sciences, EDP Sciences, 2016, 32 (6-7), pp.571-573. ⟨10.1051/medsci/20163206015⟩

مصطلحات موضوعية: 0301 basic medicine, 10050 Institute of Pharmacology and Toxicology, 610 Medicine & health, General Medicine, Biology, Molecular biology, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 1300 General Biochemistry, Genetics and Molecular Biology, 570 Life sciences, biology, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS

وصف الملف: Mircsof, NONO & ID, NN 2015.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a35a17f9c5a50425f3e98dd966f74eb
https://hal.archives-ouvertes.fr/hal-02142248

المؤلفون: Giovanna Bosshard, Steven J Moss, Christine Bole-Feysot, Jean-Marc Fritschy, Karine Siquier-Pernet, Patrick Nitschké, Olivier Alibeu, Ann-Kristina Fritz, Dennis Mircsof, David P. Wolfer, Florence Crestani, Markus Rudin, Steven A. Brown, Nathalie Boddaert, Rochelle M. Hines, Arnold Munnich, Jeanne Amiel, Petra Seebeck, Matej Žnidarič, Christina Koester, Nicolas Cagnard, Ludmila Gaspar, Maéva Langouët, Shiva K. Tyagarajan, Laurence Colleaux, Aileen Schröter, Marlène Rio, Sébastien Moutton, Katrina Prescott

المساهمون: Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Génétique Médicale [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Plateforme de génomique [SFR Necker], Structure Fédérative de Recherche Necker (SFR Necker - UMS 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Plateforme Bioinformatique [SFR Necker] (BIP-D), Institute of Anatomy, Universität Zürich [Zürich] = University of Zurich (UZH), Service de radiologie pédiatrique [CHU Necker], Department of Clnical Genetics, Chapel Allerton Hospital, Institute of Pharmacology and Toxicology [Zurich], University of Zurich, Brown, Steven A, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), University of Zürich [Zürich] (UZH), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)

المصدر: Nature Neuroscience
Nature Neuroscience, Nature Publishing Group, 2015, 18 (12), pp.1731-1736. ⟨10.1038/nn.4169⟩

مصطلحات موضوعية: Male, Protein family, Adolescent, 10050 Institute of Pharmacology and Toxicology, RNA-binding protein, 610 Medicine & health, Mice, Transgenic, Biology, Inhibitory postsynaptic potential, Article, Mice, Nuclear Matrix-Associated Proteins, Cellular neuroscience, Intellectual Disability, Intellectual disability, medicine, Transcriptional regulation, Animals, Humans, 10237 Institute of Biomedical Engineering, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, Genetics, Gephyrin, General Neuroscience, 2800 General Neuroscience, Brain, RNA-Binding Proteins, Neural Inhibition, medicine.disease, Pedigree, DNA-Binding Proteins, Mice, Inbred C57BL, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Synapses, biology.protein, GABAergic, 570 Life sciences, biology, Octamer Transcription Factors, Neuroscience

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4021ff7fe23936013a6aae386fd0646
https://hal.archives-ouvertes.fr/hal-02088168

المؤلفون: Maéva, Langouët, Karine, Siquier-Pernet, Sylvia, Sanquer, Christine, Bole-Feysot, Patrick, Nitschke, Nathalie, Boddaert, Arnold, Munnich, Grazia M S, Mancini, Robert, Barouki, Jeanne, Amiel, Laurence, Colleaux

المصدر: Molecular Genetics & Genomic Medicine

مصطلحات موضوعية: AP4 deficiency syndrome, obesity, zinc-α2-glycoprotein, Original Articles, intellectual deficiency, whole-exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2584b1743334043cb25529982ed5e84d
https://pubmed.ncbi.nlm.nih.gov/26029708

المؤلفون: Maile R. Brown, Roberta Cilio, Matthew R. Fleming, Laurence Colleaux, Giulia Barcia, Aline Deligniere, Isabelle Desguerre, Leonard K. Kaczmarek, Nathalie Boddaert, Avinash Abhyankar, Maéva Langouët, Patrick Nitschké, Anna Kaminska, Valeswara-Rao Gazula, Rima Nabbout, Jean-Laurent Casanova, Jack Kronengold, Haijun Chen, Olivier Dulac, Arnold Munnich

المساهمون: CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Épilepsie de l'enfant et plasticité cérébrale (Inserm U663), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Service de neurologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Bio-informatic, New York Genome Center, Service d'informatique médicale et biostatistiques [CHU Necker], Service de radiologie pédiatrique [CHU Necker], St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University [New York], CHU Necker - Enfants Malades [AP-HP]-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], The Rockefeller University

المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2012, 44 (11), pp.1255-1259. ⟨10.1038/ng.2441⟩

مصطلحات موضوعية: Proband, Genetics, 0303 health sciences, medicine.medical_specialty, Biology, Potassium channel, Article, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cytoplasm, Internal medicine, medicine, Phosphorylation, Signal transduction, Protein kinase A, 030217 neurology & neurosurgery, Function (biology), Exome sequencing, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4224388a06e28414ce3e7cb430653ba0
https://hal.archives-ouvertes.fr/hal-02090149