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1دورية أكاديمية
المؤلفون: Kévin Duarte, Solveig Heide, Sandrine Poëa-Guyon, Véronique Rousseau, Christel Depienne, Agnès Rastetter, Caroline Nava, Tania Attié-Bitach, Ferechté Razavi, Jelena Martinovic, Marie Laure Moutard, Jacqueline Cherfils, Cyril Mignot, Delphine Héron, Jean-Vianney Barnier
المصدر: Neurobiology of Disease, Vol 136, Iss , Pp 104709- (2020)
مصطلحات موضوعية: Corpus callosum agenesis (CCA), Cell adhesion, Cell migration, Cell spreading, Intellectual disability, Kinase, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S0969996119303845Test; https://doaj.org/toc/1095-953XTest
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المؤلفون: Andrew E. Timms, Danilo Dubocanin, Cira Di Gioia, Rosa Russo, Derek Dang, Kathleen J. Millen, Ozgur Oztekin, Lucia Manganaro, Alexandria H Sjoboen, Brian D Davis, Kimberly A. Aldinger, Fabien Guimiot, Ian A. Glass, Jake Millman, Evelina Silvestri, Homa Adle-Biassette, Mei Deng, Tarika Sivakumar, Parthiv Haldipur, Ferechté Razavi, Kshitij Mankad, Nathalie Roux, Joseph R. Siebert, Silvia Bernardo, Giulia Petrilli, Debora Kidron, Jasmine T. Plummer
المصدر: Acta Neuropathol
مصطلحات موضوعية: Cerebellum, cerebellum, Developmental Disabilities, Biology, Nervous System Malformations, Article, cerebellar vermis hypoplasia, Dandy–Walker malformation, development, rhombic lip, Pathology and Forensic Medicine, Fetal Development, Pathogenesis, Cellular and Molecular Neuroscience, Fetus, medicine, Humans, Rhombic lip, Laser capture microdissection, Progenitor, Infant, Newborn, Anatomy, medicine.disease, Hypoplasia, medicine.anatomical_structure, Dysplasia, Case-Control Studies, Immunohistochemistry, Neurology (clinical), Dandy-Walker Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e193f803997c3ba3aa6cd76ca148ff1Test
https://doi.org/10.1007/s00401-021-02355-7Test -
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المؤلفون: Cécile Masson, Arnaud Molin, Clarisse Billon, Agnès Liard, Lucile Boutaud, Sabine Sigaudy, Sophie Thomas, Eglantine Magnin, Radia Fritih, Valérie Layet, Maryse Bonnière, Yves Ville, Alix Clemenson, Alain Diguet, Philippe Roth, Coralie Dauge, Sophie Patrier, John Rendu, Julia Tantau, Bettina Bessières, Alice Goldenberg, Leila Hakkakian, Céline Poirsier, Tania Attié-Bitach, Ferechté Razavi, Clémence Fleury, Eric Verspyck, Nadia Elkhartoufi, Maude Grelet, Amale Achaiaa, Fabienne Prieur, Christine Bole-Feysot, Aude Tessier
المصدر: Clinical Genetics. 98:261-273
مصطلحات موضوعية: Male, 0301 basic medicine, Candidate gene, Myosin Light Chains, Colon, Urinary Bladder, Nerve Tissue Proteins, 030105 genetics & heredity, Biology, Compound heterozygosity, 03 medical and health sciences, Exome Sequencing, Fetal megacystis, Genetics, MYH11, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Gene, Genetics (clinical), Exome sequencing, Myosin Heavy Chains, Homozygote, Intestinal Pseudo-Obstruction, Infant, Newborn, MYLK, Microcolon, Actins, Pedigree, 030104 developmental biology, Aborted Fetus, Mutation, Female, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b785fb90b76ae17b0c8d7bcf43e09a93Test
https://doi.org/10.1111/cge.13801Test -
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المؤلفون: Tania Attié-Bitach, Sarah Baer, Jamel Chelly, Romain Favre, Ferechté Razavi, Pauline Le Van Quyen, Nadège Calmels, Suzanne Chartier, Vincent Laugel, Salima El Chehadeh, Cathy Obringer, Séverine Bacrot, Maryse Bonnière, Lucile Boutaud, Maria Cristina Antal
المصدر: American Journal of Medical Genetics Part A. 182:1236-1242
مصطلحات موضوعية: 0301 basic medicine, Arthrogryposis, Pathology, medicine.medical_specialty, Fetus, Microcephaly, business.industry, Pontocerebellar hypoplasia, Prenatal diagnosis, Neuropathology, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, Congenital cataracts, Thymus hyperplasia, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ca89787c21bdca0ddef3c7b69aca5c8Test
https://doi.org/10.1002/ajmg.a.61520Test -
5دورية أكاديمية
المؤلفون: Catherine Fallet-bianco, Karine Poirier, Ferechte Razavi, Fabien Guimiot, Patricia Dias, Laurence Loeuillet, Karine Lascelles, Nathalie Carion, Hal Id Inserm
المساهمون: The Pennsylvania State University CiteSeerX Archives
مصطلحات موضوعية: Microlissencephaly, Lissencephaly, Polymicrogyria, Microcephaly, Tubulin genes
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المؤلفون: Maryse Bonnière, Philippe Roth, Michel Vekemans, Frédéric Brioude, Delphine Héron, Bettina Bessières, Aurélie Beaufrère, Irène Netchine, Julia Tantau, Antoinette Gelot, Elodie Schaerer, Ferechté Razavi, Tania Attié-Bitach
المصدر: Fetal and Pediatric Pathology. 37:411-417
مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Fetus, Beckwith-Wiedemann Syndrome, business.industry, Beckwith–Wiedemann syndrome, General Medicine, Anatomy, Corpus callosum, medicine.disease, Pathology and Forensic Medicine, body regions, 03 medical and health sciences, 030104 developmental biology, Posterior fossa malformations, Overgrowth syndrome, Pediatrics, Perinatology and Child Health, Humans, Medicine, Femur, Agenesis of Corpus Callosum, business, Short femur
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7a41780261c6ff5a67238b69aca4a7cTest
https://doi.org/10.1080/15513815.2018.1520942Test -
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المؤلفون: Caroline Nava, Ferechté Razavi, Kevin Duarte, Jelena Martinovic, Jacqueline Cherfils, Jean-Vianney Barnier, Christel Depienne, Delphine Héron, Cyrille Mignot, Agnès Rastetter, Solveig Heide, Marie Laure Moutard, Tania Attié-Bitach, Véronique Rousseau, Sandrine Poëa-Guyon
المساهمون: Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Sud - Paris 11 (UP11)-Centre National de la Recherche Scientifique (CNRS), Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institute of Human Genetics, University Hospital Essen, Embryology and genetics of human malformation (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de foetopathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Laboratoire de Biologie et de Pharmacologie Appliquée (LBPA), École normale supérieure - Cachan (ENS Cachan)-Centre National de la Recherche Scientifique (CNRS), Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Unité fonctionnelle de Fœtopathologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Laboratoire de biologie et pharmacologie appliquée (LBPA), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS)-Ecole Normale Supérieure Paris-Saclay (ENS Paris Saclay), Institut des Neurosciences de Paris-Saclay (Neuro-PSI), Department of genetics, Reference Center for Intellectual Disabilities of Rare Causes, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Department of Pediatrics Neurology, Reference Center for Intellectual Disabilities of Rare Causes, CHU Pitié-Salpêtrière [APHP], Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Barnier, Jean-Vianney, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)
المصدر: Neurobiology of Disease
Neurobiology of Disease, Elsevier, 2019, 136, pp.104709. ⟨10.1016/j.nbd.2019.104709⟩
Neurobiology of Disease, Vol 136, Iss, Pp 104709-(2020)
Neurobiology of Disease, Elsevier, 2020, 136, pp.104709. ⟨10.1016/j.nbd.2019.104709⟩
Neurobiology of Disease, 2020, 136, pp.104709. ⟨10.1016/j.nbd.2019.104709⟩مصطلحات موضوعية: Male, 0301 basic medicine, Microcephaly, Kinase, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Intellectual disability, Medizin, medicine.disease_cause, Severity of Illness Index, Protein Structure, Secondary, 0302 clinical medicine, Neurodevelopmental disorder, Cell Movement, Chlorocebus aethiops, Missense mutation, Child, Genetics, Mutation, [SDV.NEU.PC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Psychology and behavior, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, Cell migration, Phenotype, Pedigree, [SDV] Life Sciences [q-bio], Neurology, COS Cells, αPIX/ARHGEF6, macromolecular substances, Biology, lcsh:RC321-571, 03 medical and health sciences, medicine, Animals, Humans, Amino Acid Sequence, Kinase activity, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Corpus Callosum Agenesis, Cell spreading, Cell adhesion, medicine.disease, Corpus callosum agenesis (CCA), HEK293 Cells, 030104 developmental biology, p21-Activated Kinases, PAK3, Agenesis of Corpus Callosum, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b46af7e5c7c9ae340517b6fd28dea8Test
https://www.ncbi.nlm.nih.gov/pubmed/31843706Test -
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المؤلفون: Nadia Elkhartoufi, Didier Lacombe, Lucile Boutaud, Michel Vekemans, Alexandra Benachi, Séverine Drunat, Joel Agenor, Pascale Sonigo, Josseline Kaplan, Tania Attié-Bitach, Caroline Alby, Suzanne Chartier, Jelena Martinovic, Ferechté Razavi, Sophie Thomas
المصدر: Birth Defects Research. 110:598-602
مصطلحات موضوعية: 0301 basic medicine, Embryology, Microcephaly, Pathology, medicine.medical_specialty, Health, Toxicology and Mutagenesis, Prenatal diagnosis, Neuropathology, Gene mutation, Biology, Toxicology, medicine.disease, Compound heterozygosity, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Pediatrics, Perinatology and Child Health, Polymicrogyria, medicine, Primordial dwarfism, 030217 neurology & neurosurgery, Exome sequencing, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::22391c3191383a51eaaf9599eee9758eTest
https://doi.org/10.1002/bdr2.1204Test -
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المؤلفون: Nadia Bahi-Buisson, Camille Maillard, Tania Attié-Bitach, Fabien Guimiot, Aude Tessier, Annie Laquerrière, Séverine Drunat, Yline Capri, Nina-Maria Wilpert, Florent Marguet, Ferechté Razavi, Jelena Martinovic
المصدر: European Journal of Medical Genetics. 64:104282
مصطلحات موضوعية: Adult, Microcephaly, Interneuron, Neurogenesis, FOXG1 Gene, Nerve Tissue Proteins, Neuropathology, Biology, Interneurons, Pregnancy, Genetics, medicine, Humans, GABAergic Neurons, Myelin Sheath, Genetics (clinical), Cerebrum, Brain, Forkhead Transcription Factors, Syndrome, General Medicine, medicine.disease, Axons, Oligodendrocyte, Pedigree, Oligodendroglia, FOXG1, medicine.anatomical_structure, nervous system, Codon, Nonsense, Neurodevelopmental Disorders, Aborted Fetus, Female, Neuron, Agenesis of Corpus Callosum, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ae5f716aeb57bd51ea4e64fb77014ecTest
https://doi.org/10.1016/j.ejmg.2021.104282Test -
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المؤلفون: Paula Alexandre, Debora Kidron, Evelina Silvestri, Patrick R. Hof, Dianne Gerrelli, Lynne M. Overman, Parthiv Haldipur, Susan Lindsay, William B. Dobyns, Ferechté Razavi, Lucia Manganaro, Silvia Bernardo, Fabien Guilmiot, Kimberly A. Aldinger, Mei Deng, Kathleen J. Millen, Rosa Russo, Steven Lisgo, Andrew E. Timms, Conrad Winter, Ian A. Glass, Homa Adle-Biasette
المصدر: Science (New York, N.Y.). 366(6464)
مصطلحات موضوعية: animals, cerebellum, Dandy-Walker syndrome, humans, mice, nervous system malformations, spatio-temporal analysis, species specificity, stem cells, transcriptome, Cerebellum, Biology, Nervous System Malformations, Macaque, Article, Basal (phylogenetics), Mice, Spatio-Temporal Analysis, Dandy–Walker syndrome, Species Specificity, biology.animal, medicine, Animals, Humans, Progenitor cell, Rhombic lip, Progenitor, Cerebral Cortex, Neurons, Multidisciplinary, Stem Cells, medicine.disease, Biological Evolution, Nonhuman primate, medicine.anatomical_structure, Dandy-Walker Syndrome, Transcriptome, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd2ff24e4bac984f1e18dbc95c0c91ecTest
https://pubmed.ncbi.nlm.nih.gov/31954525Test
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