المؤلفون: Myriam Vezain, Matthieu Lecuyer, Marina Rubio, Valérie Dupé, Leslie Ratié, Véronique David, Laurent Pasquier, Sylvie Odent, Sophie Coutant, Isabelle Tournier, Laetitia Trestard, Homa Adle-Biassette, Denis Vivien, Thierry Frébourg, Bruno J Gonzalez, Annie Laquerrière, Pascale Saugier-Veber

المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-23 (2018)

مصطلحات موضوعية: ADGRL2, LPHN2, Adhesion-GPCR, Alpha-latrotoxin, Human extreme microcephaly, Rhombencephalosynapsis, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40478-018-0610-5; https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/f55bf870c96c4ca18c71d71d3650966f

المؤلفون: Sandra Mercier, Véronique David, Leslie Ratié, Isabelle Gicquel, Sylvie Odent, Valérie Dupé

المصدر: Disease Models & Mechanisms, Vol 6, Iss 2, Pp 537-543 (2013)

مصطلحات موضوعية: Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/6/2/537; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/836eab9e8354411fb9536328a4aed1ed

المؤلفون: Barbara Yael Braz, Doris Wennagel, Leslie Ratié, Diego Alves Rodrigues de Souza, Jean Christophe Deloulme, Emmanuel L. Barbier, Alain Buisson, Fabien Lanté, Sandrine Humbert

المساهمون: Université Grenoble Alpes (UGA), [GIN] Grenoble Institut des Neurosciences (GIN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Barbier, Emmanuel

المصدر: Science
Science, 2022, 377 (6613), pp.eabq5011. ⟨10.1126/science.abq5011⟩

مصطلحات موضوعية: Huntingtin Protein, Multidisciplinary, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, [SCCO.NEUR]Cognitive science/Neuroscience, Neurogenesis, [SCCO.NEUR] Cognitive science/Neuroscience, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Brain, Mice, Transgenic, Disease Models, Animal, Mice, Huntington Disease, Synapses, Animals, Humans, Nerve Net

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c6147460666730e4b2585e2f311226c
https://doi.org/10.1126/science.abq5011

المؤلفون: Xinsheng Nan, David Zarkower, Tomas Pieler, Kenneth Campbell, Stavroula Assimacopoulos, Antonello Mallamaci, Amandine Saulnier, Elizabeth A. Grove, Clément Chevalier, Meng Li, Sarah De Clercq, Elodie Desmaris, Sadia Kricha, Thomas Theil, Shenyue Qin, Eric Bellefroid, Thomas Lingner, Leslie Ratié, Kristine A. Henningfeld, Marc Keruzore, Kaushik Roychoudhury

المصدر: The Journal of Neuroscience. 38:9105-9121

مصطلحات موضوعية: Male, Telencephalon, 0301 basic medicine, animal structures, Ganglionic eminence, Dmrt, EMX2, Pallium, Settore BIO/11 - Biologia Molecolare, Biology, Dorsoventral patterning, 03 medical and health sciences, Neural Stem Cells, medicine, Animals, Enhancer, Research Articles, Homeodomain Proteins, Mice, Knockout, Neurons, Neuroscience (all), Neocortex, Cerebrum, Gene Expression Profiling, General Neuroscience, fungi, Gene Expression Regulation, Developmental, Subpallium boundary, Cell biology, Olfactory bulb, Mice, Inbred C57BL, 030104 developmental biology, medicine.anatomical_structure, nervous system, Cerebral cortex, Emx2, Gsx2, embryonic structures, Homeobox, Female, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eabd8b1cf773b051276eab6bcd164520
https://doi.org/10.1523/jneurosci.0375-18.2018

المؤلفون: Zoltán Molnár, Eric Bellefroid, Alexandra Kelman, Fernando García-Moreno, Anna Hoerder-Suabedissen, Leslie Ratié, Thomas Theil, Elodie Desmaris

المصدر: Addi: Archivo Digital para la Docencia y la Investigación
Universidad del País Vasco
Addi. Archivo Digital para la Docencia y la Investigación
instname
Ratié, L, Desmaris, E, García-Moreno, F, Hoerder-Suabedissen, A, Kelman, A, Theil, T, Bellefroid, E J & Molnar, Z 2020, ' Loss of Dmrt5 affects the formation of the subplate and early corticogenesis ', Cerebral Cortex, vol. 30, no. 5, pp. 3296–3312 . https://doi.org/10.1093/cercor/bhz310
Cerebral Cortex (New York, NY)
Cerebral cortex (New York, N.Y. 1991), 30 (5

مصطلحات موضوعية: Cognitive Neuroscience, Primary Cell Culture, Mitosis, Neocortex, Biology, Mice, Cellular and Molecular Neuroscience, interstitial neurons, Cell Movement, subplate cajal-retzius cells, Cortex (anatomy), Subplate, dmrt, medicine, Animals, Progenitor cell, developmental history, Cell Proliferation, Progenitor, Cerebral Cortex, Mice, Knockout, Neurons, neuronal migration, white-matter, Neurogenesis, radial glial-cells, postmitotic neurons, subventricular zone, Sciences bio-médicales et agricoles, Embryo, Mammalian, Marginal zone, Embryonic stem cell, Cell biology, Corticogenesis, medicine.anatomical_structure, cerebral-cortex, subplate, Original Article, Transcription Factors, corticogenesis, ganglionic eminence

وصف الملف: application/pdf; 1 full-text file(s): application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93ee79f6aca1b72c32aad99fe41328f0
http://hdl.handle.net/10810/43927

المؤلفون: Michelle Ware, Leslie Ratié, Sylvie Odent, Véronique David, Helene Guyodo, Maïlys Rupin, Artem Kim, Wilfrid Carré, Valérie Dupé, Christèle Dubourg, Houda Hamdi-Rozé, Marie de Tayrac, Aurélie Rizzo

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], ANR-12-BSV1-0007-01, Agence Nationale de la Recherche, AMP2016, Agence de la Biomedecine, ANR-12-BSV1-0007,HOLOPRO,Etude des mécanismes moléculaires impliqués dans l'holoprosencéphalie(2012), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)

المصدر: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2020, 105 (9), pp.dgaa249. ⟨10.1210/clinem/dgaa249⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2020, 105 (9), pp.dgaa249. ⟨10.1210/clinem/dgaa249⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Pituitary gland, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Clinical Biochemistry, brain development, Chick Embryo, Haploinsufficiency, Biochemistry, SHH, Cohort Studies, Mice, 0302 clinical medicine, Endocrinology, Holoprosencephaly, Pregnancy, Sonic hedgehog, Cells, Cultured, Receptors, Notch, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Cell biology, NOTCH, medicine.anatomical_structure, embryonic structures, Female, Signal Transduction, medicine.medical_specialty, Hypothalamo-Hypophyseal System, animal structures, Notch signaling pathway, Hypothalamus, rare disease, Context (language use), Mice, Transgenic, Biology, 03 medical and health sciences, Downregulation and upregulation, Internal medicine, medicine, Animals, Humans, Hedgehog Proteins, Retrospective Studies, Biochemistry (medical), medicine.disease, Embryo, Mammalian, Disease Models, Animal, 030104 developmental biology, Forebrain, biology.protein, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e914d556c40d3b11f01e570cd0308e84
https://pubmed.ncbi.nlm.nih.gov/32403133

المؤلفون: Frédérique Barloy-Hubler, Leslie Ratié, Isabelle Gicquel, Christèle Dubourg, Hélène Romé, Véronique David, Valérie Dupé, Michelle Ware

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), AMADEUS (AMADEUS), Amadeus, This work was supported by the Agence Nationale de la Recherche (grant no. ANR-12-BSV1-0007-01, VD)., ANR-12-BSV1-0007,HOLOPRO,Etude des mécanismes moléculaires impliqués dans l'holoprosencéphalie(2012), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

المصدر: Neural Development
Neural Development, 2013, 8, pp.25. ⟨10.1186/1749-8104-8-25⟩
Neural Development, BioMed Central, 2013, 8, pp.25. ⟨10.1186/1749-8104-8-25⟩

مصطلحات موضوعية: Notch, Regulator, Notch signaling pathway, Hypothalamus, Gene Expression, Proneural genes, Chick Embryo, 03 medical and health sciences, 0302 clinical medicine, Developmental Neuroscience, Lateral inhibition, Animals, Enzyme Inhibitors, 030304 developmental biology, 0303 health sciences, biology, Receptors, Notch, Effector, Neurogenesis, Up-Regulation, Notch proteins, nervous system, Neuronal differentiation, biology.protein, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Amyloid Precursor Protein Secretases, Amyloid precursor protein secretase, Neuroscience, 030217 neurology & neurosurgery, Research Article, Signal Transduction, Embryonic brain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e5b829a59eb6de4bcf12565ebc56f40
https://univ-rennes.hal.science/hal-00945669/file/1749-8104-8-25.pdf

المؤلفون: Isabelle Gicquel, Leslie Ratié, Christèle Dubourg, Annie Laquerrière, Claude Bendavid, Mylène Beri, Véronique David, Sylvie Jaillard, Valérie Dupé, Sandra Mercier, Philippe Loget, C. Evain, Chloé Quélin, Sylvie Odent, Laurent Pasquier, James Lespinasse, Pascale Marcorelles, Bruno Leheup, Dominique Martin-Coignard, Florence Demurger

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Pontchaillou [Rennes], Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Laboratoire de Cytogénétique, CH Chambéry, Laboratoire de génétique médicale et cytogénétique [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Hôpital Morvan - CHRU de Brest (CHU - BREST ), Service d'Anatomie et Cytologie Pathologique [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen

المصدر: Molecular Syndromology
Molecular Syndromology, 2013, 4 (6), pp.267--272. ⟨10.1159/000353878⟩
Molecular Syndromology, Karger, 2013, 4 (6), pp.267--272. ⟨10.1159/000353878⟩

مصطلحات موضوعية: Genetics, 0303 health sciences, Candidate gene, [SDV.GEN]Life Sciences [q-bio]/Genetics, Microarray, Genetic heterogeneity, business.industry, Chromosomal translocation, In situ hybridization, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Agenesis, Medicine, Original Article, Copy-number variation, business, Gene, 030217 neurology & neurosurgery, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c1230089346f6aab5918496efb2ffbc
https://hal.science/hal-01064054

المؤلفون: Laurent Pasquier, Chloé Quélin, Véronique David, Sylvie Jaillard, Isabelle Gicquel, Marion Belleguic, Philippe Loget, Sandra Mercier, Christèle Dubourg, Sylvie Odent, Valérie Dupé, Nicolas Garcelon, Lucie Rochard, Claude Bendavid, Boris Campillo-Gimenez, Leslie Ratié

المساهمون: Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Laboratoire d'Informatique Médicale (LIM), Université de Rennes (UR), Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes], CHU Pontchaillou [Rennes], This study was supported by GIS Maladies Rares, grant number GISMR0701., De Villemeur, Hervé, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)

المصدر: Journal of Medical Genetics
Journal of Medical Genetics, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩
Journal of Medical Genetics, BMJ Publishing Group, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩

مصطلحات موضوعية: Proband, Male, Rachischisis, SIX3, DNA Mutational Analysis, [SDV.GEN] Life Sciences [q-bio]/Genetics, Severity of Illness Index, SHH, Cohort Studies, MESH: Genotype, MESH: Prosencephalon, MESH: Pregnancy, Holoprosencephaly, MESH: Eye Proteins, Pregnancy, Genotype, MESH: Nerve Tissue Proteins, MESH: DNA Mutational Analysis, MESH: Cohort Studies, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), MESH: Genetic Association Studies, Genetics, TGIF, 0303 health sciences, Comparative Genomic Hybridization, medicine.diagnostic_test, MESH: Genetic Testing, 030305 genetics & heredity, MESH: Infant, Newborn, Nuclear Proteins, MESH: Transcription Factors, MESH: European Continental Ancestry Group, Phenotype, Pedigree, medicine.anatomical_structure, MESH: Repressor Proteins, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], ZIC2, MESH: Genetic Counseling, MESH: Holoprosencephaly, congenital, hereditary, and neonatal diseases and abnormalities, MESH: Mutation, MESH: Pedigree, Genetic Counseling, Nerve Tissue Proteins, Biology, MESH: Phenotype, Article, White People, 03 medical and health sciences, Fetus, Prosencephalon, MESH: Severity of Illness Index, MESH: Homeodomain Proteins, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, Hedgehog Proteins, Genetic Testing, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], holoprosencephaly (HPE), Eye Proteins, Genetic Association Studies, 030304 developmental biology, Genetic testing, Homeodomain Proteins, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Neural tube, Infant, Newborn, MESH: Fetus, MESH: Hedgehog Proteins, medicine.disease, MESH: Male, Repressor Proteins, MESH: Comparative Genomic Hybridization, Mutation, MESH: Nuclear Proteins, MESH: Female, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0795f8110528966f9170b0bc4ba0bdec
https://www.hal.inserm.fr/inserm-00626407/document