المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1122985/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/c14e4795329344a3bad7a62c2a7011bdTest

المؤلفون: Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders, Biology (General), QH301-705.5

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1019715/fullTest; https://doaj.org/toc/2296-634XTest; https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0Test

الإتاحة: https://doi.org/10.3389/fcell.2022.1019715Test
https://doaj.org/article/c1a36df17ff14365b4007779f383c9f0Test

المؤلفون: Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)

مصطلحات موضوعية: Science

العلاقة: https://doi.org/10.1038/s41467-021-21053-2Test; https://doaj.org/toc/2041-1723Test; https://doaj.org/article/e484f6bf742d4dfaa468f76258820800Test

الإتاحة: https://doi.org/10.1038/s41467-021-21053-2Test
https://doaj.org/article/e484f6bf742d4dfaa468f76258820800Test

المؤلفون: Julian Delanne, Ange-Line Bruel, Frédéric Huet, Sébastien Moutton, Sophie Nambot, Margot Grisval, Nada Houcinat, Paul Kuentz, Arthur Sorlin, Patrick Callier, Nolwenn Jean-Marcais, Anne-Laure Mosca-Boidron, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Daphné Lehalle, Salima El Chehadeh, Christine Francannet, Marine Lebrun, Laetitia Lambert, Marie-Line Jacquemont, Marion Gerard-Blanluet, Jean-Luc Alessandri, Marjolaine Willems, Julien Thevenon, Mondher Chouchane, Véronique Darmency, Clémence Fatus-Fauconnier, Sébastien Gay, Marie Bournez, Alice Masurel, Vanessa Leguy, Yannis Duffourd, Christophe Philippe, François Feillet, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100812- (2021)

مصطلحات موضوعية: Inherited metabolic disorders, Exome sequencing, Intellectual disability, Developmental delay, Genotype first, Medicine (General), R5-920, Biology (General), QH301-705.5

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921001075Test; https://doaj.org/toc/2214-4269Test; https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest

الإتاحة: https://doi.org/10.1016/j.ymgmr.2021.100812Test
https://doaj.org/article/6b43835fd34647d4a03a8cc096c8582eTest

المؤلفون: Anna Lauritano, Sebastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela

المصدر: Epilepsia Open, Vol 4, Iss 3, Pp 464-475 (2019)

مصطلحات موضوعية: early‐onset epileptic encephalopathy, homozygous loss‐of‐function variant, intellectual disability, KCNQ3, next‐generation sequencing, nonsense‐mediated mRNA decay, Neurology. Diseases of the nervous system, RC346-429

العلاقة: https://doi.org/10.1002/epi4.12353Test; https://doaj.org/toc/2470-9239Test; https://doaj.org/article/97250fe42ada46c4b9c58256134bf79cTest

الإتاحة: https://doi.org/10.1002/epi4.12353Test
https://doaj.org/article/97250fe42ada46c4b9c58256134bf79cTest

المؤلفون: Frédéric Tran Mau-Them, Alexis Overs, Ange-Line Bruel, Romain Duquet, Mylene Thareau, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Arthur Sorlin, Hana Safraou, Sophie Nambot, Julian Delanne, Sebastien Moutton, Caroline Racine, Camille Engel, Melchior De Giraud d’Agay, Daphne Lehalle, Alice Goldenberg, Marjolaine Willems, Christine Coubes, David Genevieve, Alain Verloes, Yline Capri, Laurence Perrin, Marie-Line Jacquemont, Laetitia Lambert, Elodie Lacaze, Julien Thevenon, Nadine Hana, Julien Van-Gils, Charlotte Dubucs, Varoona Bizaoui, Marion Gerard-Blanluet, James Lespinasse, Sandra Mercier, Anne-Marie Guerrot, Isabelle Maystadt, Emilie Tisserant, Laurence Faivre, Christophe Philippe, Yannis Duffourd, Christel Thauvin-Robinet

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, GREP, intellectual disability, developmental anomalies, genomic database, diagnostic improvement, exome sequencing (ES), data reanalysis

العلاقة: https://figshare.com/articles/dataset/Table2_Combining_globally_search_for_a_regular_expression_and_print_matching_lines_with_bibliographic_monitoring_of_genomic_database_improves_diagnosis_XLSX/22664389Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1122985.s002Test
https://figshare.com/articles/dataset/Table2_Combining_globally_search_for_a_regular_expression_and_print_matching_lines_with_bibliographic_monitoring_of_genomic_database_improves_diagnosis_XLSX/22664389Test

المؤلفون: Elizabeth A. Werren, Emily R. Peirent, Henna Jantti, Alba Guxholli, Kinshuk Raj Srivastava, Naama Orenstein, Vinodh Narayanan, Wojciech Wiszniewski, Mateusz Dawidziuk, Pawel Gawlinski, Muhammad Umair, Amjad Khan, Shahid Niaz Khan, David Geneviève, Daphné Lehalle, K. L. I. van Gassen, Jacques C. Giltay, Renske Oegema, Richard H. van Jaarsveld, Rafiullah Rafiullah, Gudrun A. Rappold, Rachel Rabin, John G. Pappas, Marsha M. Wheeler, Michael J. Bamshad, Yao-Chang Tsan, Matthew B. Johnson, Catherine E. Keegan, Anshika Srivastava, Stephanie L. Bielas

المصدر: Cell Death and Disease, Vol 15, Iss 5, Pp 1-15 (2024)

مصطلحات موضوعية: Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-4889Test

الوصول الحر: https://doaj.org/article/08dbba4aad0f4fdba2b94ba2c9076513Test

المؤلفون: Ilaria Parenti, Elsa Leitão, Alma Kuechler, Laurent Villard, Cyril Goizet, Cécile Courdier, Allan Bayat, Alessandra Rossi, Sophie Julia, Ange-Line Bruel, Frédéric Tran Mau-Them, Sophie Nambot, Daphné Lehalle, Marjolaine Willems, James Lespinasse, Jamal Ghoumid, Roseline Caumes, Thomas Smol, Salima El Chehadeh, Elise Schaefer, Marie-Thérèse Abi-Warde, Boris Keren, Alexandra Afenjar, Anne-Claude Tabet, Jonathan Levy, Anna Maruani, Ángel Aledo-Serrano, Waltraud Garming, Clara Milleret-Pignot, Anna Chassevent, Marije Koopmans, Nienke E. Verbeek, Richard Person, Rebecca Belles, Gary Bellus, Bonnie A. Salbert, Frank J. Kaiser, Laure Mazzola, Philippe Convers, Laurine Perrin, Amélie Piton, Gert Wiegand, Andrea Accogli, Francesco Brancati, Fabio Benfenati, Nicolas Chatron, David Lewis-Smith, Rhys H. Thomas, Federico Zara, Pasquale Striano, Gaetan Lesca, Christel Depienne

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), SYN1, synapsins, reflex epilepsy, genotype-phenotype correlation, neurodevelopmental disorders, autism spectrum disorders

العلاقة: https://figshare.com/articles/dataset/DataSheet1_The_different_clinical_facets_of_SYN1-related_neurodevelopmental_disorders_PDF/21694538Test

الإتاحة: https://doi.org/10.3389/fcell.2022.1019715.s001Test
https://figshare.com/articles/dataset/DataSheet1_The_different_clinical_facets_of_SYN1-related_neurodevelopmental_disorders_PDF/21694538Test

المؤلفون: Undiagnosed Diseases Network, Ilaria Parenti, Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person, Takeshi Mizuguchi, Naomichi Matsumoto, Mitsuhiro Kato, Kazuyuki Nakamura, SA (Stella) de Man, Heidi Cope, Vandana Shashi, Jennifer Friedman, Pascal Joset, Katharina Steindl, Anita Rauch, Irena Muffels, Peter M. van Hasselt, Florence Petit, Thomas Smol, Gwenaël Le Guyader, Frédéric Bilan, Arthur Sorlin, Antonio Vitobello, Christophe Philippe, I.M.B.H. (Ingrid) De Graaf - van de Laar, M.A. (Marjon) van Slegtenhorst, Philippe M. Campeau, Ping Yee Billie Au, Mitsuko Nakashima, Hirotomo Saitsu, Tatsuya Yamamoto, Yumiko Nomura, Raymond J. Louie, Michael J. Lyons, Amy Dobson, Astrid S. Plomp, M. Mahdi Motazacker, Frank J. Kaiser, Andrew T. Timberlake, Sabine A. Fuchs, Christel Depienne, Cyril Mignot, Maria T. Acosta, Margaret Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey

المصدر: Human Genetics vol. 140 no. 7, pp. 1109-1120

العلاقة: https://repub.eur.nl/pub/136043Test; urn:hdl:1765/136043

الإتاحة: https://doi.org/10.1007/s00439-021-02283-2Test
https://repub.eur.nl/pub/136043Test

المؤلفون: Julien Thevenon, Céline Souchay, Gail K Seabold, Inna Dygai-Cochet, Patrick Callier, Sébastien Gay, Lucie Corbin, Laurence Duplomb, Christel Thauvin-Robinet, Alice Masurel-Paulet, Salima El Chehadeh, Magali Avila, Delphine Minot, Eric Guedj, Sophie Chancenotte, Marlène Bonnet, Daphne Lehalle, Ya-Xian Wang, Paul Kuentz, Frédéric Huet, Anne-Laure Mosca-Boidron, Nathalie Marle, Ronald S Petralia, Laurence Faivre

المساهمون: Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire d'Etude de l'Apprentissage et du Développement [Dijon] (LEAD), Centre National de la Recherche Scientifique (CNRS)-Université de Bourgogne (UB), Neurochem lab (NIDCD), Nationale Institute of Health, Service de Médecine Nucléaire, Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Centre Hospitalier Chalon-sur-Saône William Morey, Centre de résonance magnétique biologique et médicale (CRMBM), Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Centre Référent des Troubles du Langage et des Apprentissages [CHU Dijon] (CRTLA ), Laboratoire de cytogénétique (CHU de Dijon), Regional council of Burgundy NIDCD/NIH, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Laboratoire d'Etude de l'Apprentissage et du Développement [Dijon] ( LEAD ), Université de Bourgogne ( UB ) -Centre National de la Recherche Scientifique ( CNRS ), Neurochem lab ( NIDCD ), Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc ( CRLCC - CGFL ), Centre de résonance magnétique biologique et médicale ( CRMBM ), Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Centre National de la Recherche Scientifique ( CNRS ), Centre Reference Troubles Langages & Apprentissages, IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Hôpital de la Timone [CHU - APHM] (TIMONE), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911-918. ⟨10.1038/ejhg.2015.221⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.911-918. 〈http://www.nature.com/ejhg/journal/v24/n6/full/ejhg2015221a.htmlTest〉. 〈10.1038/ejhg.2015.221〉

مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, family, speech, Hippocampal formation, Rats, Sprague-Dawley, 0302 clinical medicine, Borderline intellectual functioning, Neuropsychological assessment, Child, disorders, Genetics (clinical), Cells, Cultured, adhesion-like molecules, Membrane Glycoproteins, medicine.diagnostic_test, Learning Disabilities, Brain, Magnetic Resonance Imaging, 3. Good health, Pedigree, Memory, Short-Term, Brain size, Female, Adult, Heterozygote, nmda receptor, autism, Nerve Tissue Proteins, Biology, Receptors, N-Methyl-D-Aspartate, Article, 03 medical and health sciences, Fluorodeoxyglucose F18, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, expression, Genetics, medicine, Animals, Humans, Memory Disorders, language, Genetic heterogeneity, Working memory, Membrane Proteins, down-syndrome, Rats, 030104 developmental biology, Endophenotype, Positron-Emission Tomography, Synapses, short-term, Radiopharmaceuticals, Neuroscience, 030217 neurology & neurosurgery, Gene Deletion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcd98bf419f60baca56d35739b44d699Test
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01405814Test