المؤلفون: McInnes L, Nakamine Alisa, Pilorge Marion, Brandt Tracy, Jiménez González Patricia, Fallas Marietha, Manghi Elina R, Edelmann Lisa, Glessner Joseph, Hakonarson Hakon, Betancur Catalina, Buxbaum Joseph D

المصدر: Molecular Autism, Vol 1, Iss 1, p 5 (2010)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.molecularautism.com/content/1/1/5; https://doaj.org/toc/2040-2392

URL الوصول: https://doaj.org/article/ff6943ec5f924d748a379d504b2e35a5

المؤلفون: Pinto, Dalila, Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Merikangas, Alison, Klei, Lambertus, Thiruvahindrapuram, Bhooma, Xu, Xiao, Ziman, Robert, Wang, Zhuozhi, Vorstman, Jacob AS, Thompson, Ann, Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T, Oliveira, Bárbara, Marshall, Christian R, Magalhaes, Tiago R, Lowe, Jennifer K, Howe, Jennifer L, Griswold, Anthony J, Gilbert, John, Duketis, Eftichia, Dombroski, Beth A, De Jonge, Maretha V, Cuccaro, Michael, Crawford, Emily L, Correia, Catarina T, Conroy, Judith, Conceição, Inês C, Chiocchetti, Andreas G, Casey, Jillian P, Cai, Guiqing, Cabrol, Christelle, Bolshakova, Nadia, Bacchelli, Elena, Anney, Richard, Gallinger, Steven, Cotterchio, Michelle, Casey, Graham, Zwaigenbaum, Lonnie, Wittemeyer, Kerstin, Wing, Kirsty, Wallace, Simon, van Engeland, Herman, Tryfon, Ana, Thomson, Susanne, Soorya, Latha, Rogé, Bernadette, Roberts, Wendy, Poustka, Fritz, Mouga, Susana, Minshew, Nancy, McInnes, L Alison, McGrew, Susan G, Lord, Catherine, Leboyer, Marion, Le Couteur, Ann S, Kolevzon, Alexander, González, Patricia Jiménez, Jacob, Suma, Holt, Richard, Guter, Stephen, Green, Jonathan, Green, Andrew, Gillberg, Christopher, Fernandez, Bridget A, Duque, Frederico, Delorme, Richard, Dawson, Geraldine, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bolton, Patrick F, Bölte, Sven, Bernier, Raphael, Baird, Gillian, Bailey, Anthony J, Anagnostou, Evdokia, Almeida, Joana, Wijsman, Ellen M, Vieland, Veronica J, Vicente, Astrid M, Schellenberg, Gerard D, Pericak-Vance, Margaret, Paterson, Andrew D, Parr, Jeremy R, Oliveira, Guiomar, Nurnberger, John I, Monaco, Anthony P, Maestrini, Elena, Klauck, Sabine M, Hakonarson, Hakon, Haines, Jonathan L, Geschwind, Daniel H, Freitag, Christine M, Folstein, Susan E, Ennis, Sean

المصدر: American Journal of Human Genetics. 94(5)

مصطلحات موضوعية: Genetics, Brain Disorders, Pediatric, Mental Health, Intellectual and Developmental Disabilities (IDD), Neurosciences, Autism, 2.1 Biological and endogenous factors, Aetiology, Child, Child Development Disorders, Pervasive, DNA Copy Number Variations, Female, Gene Regulatory Networks, Humans, Male, Metabolic Networks and Pathways, Multigene Family, Pedigree, Sequence Deletion, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2pf286f3

المؤلفون: Pilorge, Marion, Fassier, Coralie, Le Corronc, Hervé, Potey, Anaïs, Bai, Jing, de Gois, Stéphanie, Delaby, Elsa, Assouline, Brigitte, Guinchat, Vincent, Devillard, Françoise, Delorme, Richard, Nygren, Gudrun, Råstam, Maria, Meier, Jochen C, Otani, Satoru, Cheval, Hélène, James, Victoria M, Topf, Maya, Dear, T. N., Gillberg, Christopher, Leboyer, Marion, Giros, Bruno, Gautron, Sophie, Hazan, Jamilé, Harvey, Robert J, Legendre, Pascal, Betancur, Catalina

المساهمون: Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiologie Animale, Université d'Angers (UA), Unité Pédopsychiatrique et Neuropédiatrique de Diagnostic et d'Evaluation des Troubles Envahissants du Développement, Centre Alpin de DIagnostic Précoce de l'Autisme - CADIPA-Centre Hospitalier Alpes Isère Grenoble, France (CH Alpes Isere), Département de génétique et procréation, Université Joseph Fourier - Grenoble 1 (UJF)-Hôpital Couple-Enfant, Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Gillberg Neuropsychiatry Centre Göteborg, Sueden, Institute of Neuroscience and Physiology Göteborg -Göteborgs Universitet = University of Gothenburg (GU), Zellphysiologie, Technische Universität Braunschweig = Technical University of Braunschweig Braunschweig -Zoologisches Institut, Department of Biological Sciences, Birkbeck College University of London -Institute of Structural and Molecular Biology (ISMB), Department of Pharmacology, UCL School of Pharmacy, Leeds Institute of Molecular Medicine, University of Leeds-St. James's University Hospital, Fondation FondaMental Créteil, Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Department of Psychiatry Montréal, McGill University = Université McGill Montréal, Canada, This work was supported by a NARSAD Independent Investigator Award from the Brain & Behavior Research Foundation to Catalina Betancur, the Foundation for Autism Research, INSERM, CNRS and Université Pierre et Marie Curie.

المصدر: ISSN: 1359-4184.

مصطلحات موضوعية: intellectual disability, interneuron, excitatory-inhibitory imbalance, language delay, synaptic plasticity, long term potentiation, mutation screening, sequencing, X chromosome, rare variants, glycinergic signaling, GLRA2, Autism spectrum disorder, repetitive behaviors, social interaction, locomotor activity, rotarod, microarray, deletion, de novo, mutation, glycine receptor, α2 subunit, prefrontal cortex, learning and memory, novel object recognition, Morris water maze, functional analysis, site-directed mutagenesis, whole-cell recording

Relation: info:eu-repo/semantics/altIdentifier/pmid/26370147; PUBMED: 26370147

الاتاحة: https://inserm.hal.science/inserm-01211157
https://inserm.hal.science/inserm-01211157v1/document
https://inserm.hal.science/inserm-01211157v1/file/Pilorge%20Mol%20Psychiatry%202016.pdf
https://doi.org/10.1038/mp.2015.139

المؤلفون: Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina

المساهمون: Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Psychiatrie de l'Enfant et de l'Adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Gillberg Neuropsychiatry Centre Göteborg, Sueden, Institute of Neuroscience and Physiology Göteborg -Göteborgs Universitet = University of Gothenburg (GU), Pôle Couple-Enfant, Département de Génétique et Procréation, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Unité de Neurologie, Hôpital Robert Debré, Groupe de Recherche Clinique : Génétique des Déficiences Intellectuelles de Causes Rares (associées ou non aux Troubles du Spectre Autistique) (GRC 9), Université Pierre et Marie Curie - Paris 6 (UPMC), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Trousseau APHP, Unité de Cytogénétiqué, Hôpital Jean-Verdier, Service de Pédiatrie Jean Verdier, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Foundation for Autism Research, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, AP HP, Reprod Biol Unit CECOS, Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research was supported by Fondation de France, INSERM, and Institut de France.

المصدر: ISSN: 2040-2392 ; Molecular Autism ; https://inserm.hal.science/inserm-01181008 ; Molecular Autism, 2015, 6 (1), pp.19. ⟨10.1186/s13229-015-0015-2⟩.

مصطلحات موضوعية: autism spectrum disorder, balanced chromosomal rearrangement, CNV, copy number variant, deletion, duplication, de novo, karyotype, inversion, translocation, SNP microarray, duplication Wolf-Hirschhorn region, 18p11.22p11.31 deletion, 7q21.3q22.1 deletion, 2q37 deletion syndrome, RFX3, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: inserm-01181008; https://inserm.hal.science/inserm-01181008; https://inserm.hal.science/inserm-01181008/document; https://inserm.hal.science/inserm-01181008/file/Tabet%20apparently%20balanced%20rearrangements%20Mol%20Aut%202015.pdf

الاتاحة: https://inserm.hal.science/inserm-01181008
https://inserm.hal.science/inserm-01181008/document
https://inserm.hal.science/inserm-01181008/file/Tabet%20apparently%20balanced%20rearrangements%20Mol%20Aut%202015.pdf
https://doi.org/10.1186/s13229-015-0015-2

المؤلفون: Tabet, Anne-Claude, Pilorge, Marion, Delorme, Richard, Amsellem, Frédérique, Pinard, Jean-Marc, Leboyer, Marion, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina

المساهمون: Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de psychopathologie de l'enfant et de l'adolescent, Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service de neurologie pédiatrique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Raymond Poincaré AP-HP, Service de psychiatrie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Hôpital Albert Chenevier, Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), This research was supported by Fondation de France, INSERM and Fondation Dehecq-Institut de France.

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: duplication 16p11.2p12.2, deletion 16p11.2, autism, intellectual disability, SH2B1, SNP array, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/22234155; PUBMED: 22234155

الاتاحة: https://inserm.hal.science/inserm-00661857
https://inserm.hal.science/inserm-00661857v1/document
https://inserm.hal.science/inserm-00661857v1/file/Tabet_manuscript.pdf
https://doi.org/10.1038/ejhg.2011.244

المؤلفون: Tabet, Anne-Claude, Pilorge, Marion, Delorme, Richard, Amsellem, Frédérique, Pinard, Jean-Marc, Leboyer, Marion, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina

المصدر: European Journal of Human Genetics ; volume 20, issue 5, page 594-594 ; ISSN 1018-4813 1476-5438

الاتاحة: https://doi.org/10.1038/ejhg.2012.32
http://www.nature.com/articles/ejhg201232.pdf
http://www.nature.com/articles/ejhg201232

المؤلفون: Bozdagi, Ozlem, Sakurai, Takeshi, Dorr, Nathan, Pilorge, Marion, Takahashi, Nagahide, Buxbaum, Joseph D.

المساهمون: Dawson, Ted M.

المصدر: PLoS ONE ; volume 7, issue 8, page e42422 ; ISSN 1932-6203

الاتاحة: http://dx.doi.org/10.1371/journal.pone.0042422

المؤلفون: Pinto, Dalila, Pagnamenta, Alistair, T., Klei, Lambertus, Anney, Richard, Merico, Daniele, Regan, Regina, Conroy, Judith, Magalhaes, Tiago, R., Correia, Catarina, Abrahams, Brett, S., Almeida, Joana, Bacchelli, Elena, Bader, Gary, D., Bailey, Anthony, J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick, F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Bryson, Susan, E., Carson, Andrew, R., Casallo, Guillermo, Casey, Jillian, Chung, Brian, H. Y., Cochrane, Lynne, Corsello, Christina, Crawford, Emily, L., Crossett, Andrew, Cytrynbaum, Cheryl, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget, A., Folstein, Susan, E., Fombonne, Eric, Freitag, Christine, M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph, T., Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen, J., Hakonarson, Hakon, Heron, Elizabeth, A., Hill, Matthew, Holt, Richard, Howe, Jennifer, L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine, M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara, M., Lamb, Janine, A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett, L., Lionel, Anath, C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata, C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian, R., Mcconachie, Helen, Mcdougle, Christopher, J., Mcgrath, Jane, Mcmahon, William, M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy, J., Mirza, Ghazala, K., Munson, Jeff, Nelson, Stanley, F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy, R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Piven, Joseph, Ponting, Chris, P., Posey, David, J., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael, L., Bierut, Laura, J., Rice, John, P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Sequeira, Ana, F., Senman, Lili, Shah, Naisha, Sheffield, Val, C., Soorya, Latha, Sousa, Inês, Stein, Olaf, Sykes, Nuala, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann, P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, van Engeland, Herman, Vincent, John, B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas, H., Webber, Caleb, Weksberg, Rosanna, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Wu, Jing, Yaspan, Brian, L., Zurawiecki, Danielle, M., Zwaigenbaum, Lonnie, Buxbaum, Joseph, D., Cantor, Rita, M., Cook, Edwin, H., Coon, Hilary, Cuccaro, Michael, L., Devlin, Bernie, Ennis, Sean, Gallagher, Louise, Geschwind, Daniel, H., Gill, Michael, Haines, Jonathan, L., Hallmayer, Joachim, Miller, Judith, Monaco, Anthony, P., Nurnberger, John, I., Paterson, Andrew, D., Pericak-Vance, Margaret, A., Schellenberg, Gerard, D., Szatmari, Peter, Vicente, Astrid, M., Vieland, Veronica, J., Wijsman, Ellen, M., Scherer, Stephen, W., Sutcliffe, James, S., Betancur, Catalina

المساهمون: Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, The Wellcome Trust Centre for Human Genetics Oxford, University of Oxford, Department of Psychiatry Pittsburgh, University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Division of Mental Health and Addiction, Oslo University Hospital Oslo, Banting and Best Department of Medical Research, University of Toronto, Academic Centre on Rare Diseases (ACoRD), University College Dublin Dublin (UCD), Instituto Nacional de Saùde Dr Ricardo Jorge Portugal (INSA), BioFIG, Center for Biodiversity, Functional and Integrative Genomics, Department of Neurology, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC)-David Geffen School of Medicine Los Angeles, University of California (UC)-University of California (UC), Unidade de Neurodesenvolvimento e Autismo (UNDA), Hospital Pediatrico de Coimbra, Department of Pharmacy and Biotechnology, Alma Mater Studiorum Università di Bologna = University of Bologna (UNIBO), Department of Psychiatry, University of Oxford-Warneford Hospital Oxford (WH), Newcomen Centre, Guy's Hospital London, Department of Psychiatry and Behavioral Sciences Stanford, Stanford Medicine, Stanford University-Stanford University, Child and Adolescent Mental Health, Newcastle University Newcastle, Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe-Universität Frankfurt am Main, Department of Child and Adolescent Psychiatry, Institute of psychiatry, Génétique Humaine et Fonctions Cognitives, Institut Pasteur Paris (IP)-Centre National de la Recherche Scientifique (CNRS), Autism Research Unit, The Hospital for sick children Toronto (SickKids)-University of Toronto, Department of Pediatrics and Psychology, Dalhousie University Halifax, Autism and Communicative Disorders Centre, University of Michigan Ann Arbor, University of Michigan System-University of Michigan System, Department of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt University Nashville -Centers for Human Genetics Research and Molecular Neuroscience, Department of Statistics, Carnegie Mellon University Pittsburgh (CMU), Scientific Affairs, Autism Speaks, University of North Carolina Chapel Hill (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), University Medical Center Utrecht (UMCU)-Brain Center Rudolf Magnus, Service de psychopathologie de l'enfant et de l'adolescent, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Department of Speech and Hearing Sciences Washington, University of Washington Seattle, Disciplines of Genetics and Medicine, Memorial University of Newfoundland = Université Memorial de Terre-Neuve St. John's, Canada (MUN), John P. Hussman Institute for Human Genomics, University of Miami Coral Gables, Department of Psychiatry Montréal, McGill University = Université McGill Montréal, Canada, Göteborgs Universitet = University of Gothenburg (GU), The Center for Applied Genomics, Children’s Hospital of Philadelphia (CHOP), Department of Psychiatry and Behavioural Neurosciences, McMaster University Hamilton, Ontario, Academic Department of Child Psychiatry, Booth Hall of Children's Hospital, Institute for Juvenile Research-University of Illinois Chicago (UIC), University of Illinois System-University of Illinois System, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania-University of Pennsylvania-Children’s Hospital of Philadelphia (CHOP), Division of Molecular Genome Analysis, German Cancer Research Center - Deutsches Krebsforschungszentrum Heidelberg (DKFZ), Human Genetics Center, The University of Texas Health Science Center at Houston (UTHealth), Department of Medicine, Autism Genetic Resource Exchange, Centre for Integrated Genomic Medical Research, Manchester, University of Manchester Manchester, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7), Nathan Kline Institute for Psychiatric Research (NKI), Nathan Kline Institute for Psychiatric Research

المصدر: ISSN: 0028-0836.

مصطلحات موضوعية: MESH: Case-Control Studies, MESH: Cell Movement, MESH: Humans, MESH: Signal Transduction, MESH: Social Behavior, MESH: Child, MESH: Child Development Disorders, Pervasive, MESH: Cytoprotection, MESH: DNA Copy Number Variations, MESH: Europe, MESH: Gene Dosage, MESH: Genetic Predisposition to Disease, MESH: Genome-Wide Association Study, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/20531469; PUBMED: 20531469

الاتاحة: https://inserm.hal.science/inserm-00521387
https://inserm.hal.science/inserm-00521387v1/document
https://inserm.hal.science/inserm-00521387v1/file/Pinto_AGP_CNV_Nature_2010.pdf
https://doi.org/10.1038/nature09146

المؤلفون: Tabet, Anne-Claude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, Jean-François, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina

المساهمون: Département de génétique, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), Unité fonctionnelle de génétique clinique, Physiopathologie des Maladies du Système Nerveux Central, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Physiopathologie, conséquences fonctionnelles et neuroprotection des atteintes du cerveau en développement, Université Paris Diderot - Paris 7 (UPD7)-IFR2-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Histologie-embryologie-cytogénétique, Université Paris 13 (UP13)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Jean Verdier AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), M.P. is supported by a PhD fellowship from the French Ministry of Research.

المصدر: ISSN: 1552-4825.

مصطلحات موضوعية: 6q duplication syndrome, joint contracture, utrophin, array-CGH, qPCR, [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: info:eu-repo/semantics/altIdentifier/pmid/20583184; inserm-00520796; https://inserm.hal.science/inserm-00520796; https://inserm.hal.science/inserm-00520796/document; https://inserm.hal.science/inserm-00520796/file/Tabet_Am_J_Med_Genet_A_2010.pdf; PUBMED: 20583184

الاتاحة: https://inserm.hal.science/inserm-00520796
https://inserm.hal.science/inserm-00520796/document
https://inserm.hal.science/inserm-00520796/file/Tabet_Am_J_Med_Genet_A_2010.pdf
https://doi.org/10.1002/ajmg.a.33433

المؤلفون: McInnes, L, Nakamine, Alisa, Pilorge, Marion, Brandt, Tracy, Jiménez González, Patricia, Fallas, Marietha, Manghi, Elina R, Edelmann, Lisa, Glessner, Joseph, Hakonarson, Hakon, Betancur, Catalina, Buxbaum, Joseph D

Relation: http://www.molecularautism.com/content/1/1/5

الاتاحة: http://www.molecularautism.com/content/1/1/5

المؤلفون: Pilorge, Marion

المساهمون: Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), UPMC, Catalina Betancur, Pilorge, Marion

المصدر: Neurosciences. UPMC, 2013. Français. ⟨NNT : ⟩

مصطلحات موضوعية: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, [SCCO.NEUR]Cognitive science/Neuroscience, CNV, [SCCO.NEUR] Cognitive science/Neuroscience, genetics, Autisme, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, génétique, glycine

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1398::0a19e839bcb93a84f1640d3f5ff6c8c8
https://theses.hal.science/tel-01215951/document

المؤلفون: Pilorge, Marion

المساهمون: Neuroscience Paris Seine (NPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut de Biologie Paris Seine (IBPS), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), UPMC, Catalina Betancur

المصدر: https://theses.hal.science/tel-01215951 ; Neurosciences. UPMC, 2013. Français. ⟨NNT : ⟩.

مصطلحات موضوعية: Autism, CNV, genetics, glycine, Autisme, génétique, [SCCO.NEUR]Cognitive science/Neuroscience, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

Relation: tel-01215951; https://theses.hal.science/tel-01215951; https://theses.hal.science/tel-01215951/document; https://theses.hal.science/tel-01215951/file/Th%C3%A8se%20Marion%20Pilorge.pdf

الاتاحة: https://theses.hal.science/tel-01215951
https://theses.hal.science/tel-01215951/document
https://theses.hal.science/tel-01215951/file/Th%C3%A8se%20Marion%20Pilorge.pdf

المؤلفون: Tabet, AnneClaude, Aboura, Azzedine, Gérard, Marion, Pilorge, Marion, Dupont, Céline, Gadisseux, JeanFrançois, Hervy, Nadège, Pipiras, Eva, Delahaye, Andrée, Kanafani, Samia, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina

المصدر: American Journal of Medical Genetics. Part A; July 2010, Vol. 152 Issue: 7 p1781-1788, 8p

المؤلفون: Pinto, Dalila

المساهمون: Delaby, Elsa, Merico, Daniele, Barbosa, Mafalda, Klei, Lambertus, Vorstman, Jacob A. S., Regan, Regina, Pilorge, Marion, Pellecchia, Giovanna, Pagnamenta, Alistair T., Oliveira, Bárbara, Magalhaes, Tiago R., Lowe, Jennifer K., Howe, Jennifer L., Gilbert, John, Duketis, Eftichia, De Jonge, Maretha V., Cuccaro, Michael, Crawford, Emily L., Correia, Catarina T., Conroy, Judith, Chiocchetti, Andreas G., Cai, Guiqing, Cabrol, Christelle, Gallinger, Steven, Cotterchio, Michelle, Zwaigenbaum, Lonnie, Engeland, Herman ˜vanœ, Tryfon, Ana, Thomson, Susanne, Soorya, Latha, Rogé, Bernadette, Roberts, Wendy, Mouga, Susana, McInnes, L. Alison, Lord, Catherine, Leboyer, Marion, Kolevzon, Alexander, González, Patricia Jiménez, Jacob, Suma, Holt, Richard, Guter, Stephen, Gillberg, Christopher, Fernandez, Bridget A., Duque, Frederico, Delorme, Richard, Chaste, Pauline, Café, Cátia, Brennan, Sean, Bourgeron, Thomas, Bernier, Raphael, Anagnostou, Evdokia, Almeida, Joana, Wijsman, Ellen M., Vieland, Veronica J., Vicente, Astrid M., Schellenberg, Gerard D., Parr, Jeremy R., Oliveira, Guiomar, Monaco, Anthony P., Maestrini, Elena, Klauck, Sabine M., Hakonarson, Hakon, Haines, Jonathan L., Geschwind, Daniel H., Freitag, Christine M., Szatmari, Peter, Gill, Michael, Buxbaum, Joseph D., Devlin, Bernie, Betancur, Catalina, Conceição, Inȇs C., Thiruvahindrapuram, Bhooma, Ziman, Robert, Wang, Zhuozhi, Thompson, Ann, Marshall, Christian R., Griswold, Anthony J., Dombroski, Beth A., Casey, Jillian P., Bolshakova, Nadia, Anney, Richard, Casey, Graham, Wing, Kirsty, Wallace, Simon, Minshew, Nancy, McGrew, Susan G., Green, Jonathan, Green, Andrew, Dawson, Geraldine, Bolton, Patrick F., Baird, Gillian, Bailey, Anthony J., Pericak-Vance, Margaret, Paterson, Andrew D., Folstein, Susan E., Ennis, Sean, Coon, Hilary, Sutcliffe, James S., Cook, Edwin H., Gallagher, Louise, Scherer, Stephen W., Bacchelli, Elena, Battaglia, Agatino, Le Couteur, Ann S., Bölte, Sven, Merikangas, Alison, Xu, Xiao, Wittemeyer, Kerstin, Poustka, Fritz, Nurnberger, John I., Hallmayer, Joachim

الاتاحة: http://data.europeana.eu/aggregation/europeana/2048441/item_NVDTEKNVF5Y3ADIMEGS7LXXY7EUQA722