المؤلفون: Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J, Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P, Chung, Wendy K

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 183(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Neurosciences, Clinical Research, Behavioral and Social Science, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognitive Dysfunction, DNA Copy Number Variations, Family, Female, Heterozygote, Humans, Intellectual Disability, Language, Male, Middle Aged, Siblings, Speech, Verbal Behavior, Young Adult, 16p11, deletion, duplication, autism, genetics, language profiles, 16p11.2 deletion, 16p11.2 duplication, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6h67t169Test

المؤلفون: Bernier, Raphael, Steinman, Kyle J, Reilly, Beau, Wallace, Arianne Stevens, Sherr, Elliott H, Pojman, Nicholas, Mefford, Heather C, Gerdts, Jennifer, Earl, Rachel, Hanson, Ellen, Goin-Kochel, Robin P, Berry, Leandra, Kanne, Stephen, Snyder, LeeAnne Green, Spence, Sarah, Ramocki, Melissa B, Evans, David W, Spiro, John E, Martin, Christa L, Ledbetter, David H, Chung, Wendy K, Simons VIP consortium

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 18(4)

مصطلحات موضوعية: Simons VIP consortium, Chromosomes, Human, Pair 1, Humans, Chromosome Disorders, Chromosome Deletion, Registries, Neuropsychological Tests, Phenotype, Adult, Middle Aged, Child, Child, Preschool, Female, Male, Young Adult, DNA Copy Number Variations, Chromosome Duplication, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Pediatric, Genetics, Neurosciences, Genetic Testing, Clinical Research, Brain Disorders, Behavioral and Social Science, Mental health, autism spectrum disorder, copy-number variation, developmental disability, 1q21.1 deletion, 1q21.1 duplication, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6j06n700Test

المؤلفون: D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel JRA, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne BM, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

المصدر: JAMA Psychiatry. 73(1)

مصطلحات موضوعية: Biological Psychology, Psychology, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Mental Health, Pediatric, Clinical Research, Brain Disorders, Autism, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Case-Control Studies, Cerebellum, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognition, Cohort Studies, Comorbidity, DNA Copy Number Variations, Developmental Disabilities, Epilepsy, Female, Humans, Intellectual Disability, Male, Microcephaly, Middle Aged, Nervous System Malformations, Schizophrenia, Schizophrenic Psychology, Young Adult, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Other Medical and Health Sciences, Cognitive Sciences, Clinical sciences, Clinical and health psychology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0x58q3tqTest

المؤلفون: Hanson, Ellen, Bernier, Raphael, Porche, Ken, Jackson, Frank I, Goin-Kochel, Robin P, Snyder, LeeAnne Green, Snow, Anne V, Wallace, Arianne Stevens, Campe, Katherine L, Zhang, Yuan, Chen, Qixuan, D’Angelo, Debra, Moreno-De-Luca, Andres, Orr, Patrick T, Boomer, KB, Evans, David W, Kanne, Stephen, Berry, Leandra, Miller, Fiona K, Olson, Jennifer, Sherr, Elliot, Martin, Christa L, Ledbetter, David H, Spiro, John E, Chung, Wendy K, Consortium, on behalf of the Simons Variation in Individuals Project

المصدر: Biological Psychiatry. 77(9)

مصطلحات موضوعية: Clinical Research, Mental Health, Genetic Testing, Brain Disorders, Autism, Behavioral and Social Science, Pediatric, Genetics, Intellectual and Developmental Disabilities (IDD), Detection, screening and diagnosis, 4.2 Evaluation of markers and technologies, Mental health, Adolescent, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 16, Cognition, Developmental Disabilities, Heterozygote, Humans, Intelligence, Mental Disorders, Phenotype, Young Adult, 16p11.2 Deletion, Autism spectrum disorder, Developmental disability, Psychiatric diagnosis, Simons Variation in Individuals Project Consortium, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/73m062wgTest

المؤلفون: Beckmann, Noam, Hanson, Ellen, Maillard, Anne, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W, Goin-Kochel, Robin, Grant, Ellen, Harewood, Louise, Hunter, Jill, Lebon, Sébastien, Ledbetter, David, Martin, Christa, Männik, Katrin, Martinet, Danielle, Ramocki, Melissa, Spence, Sarah, Steinman, Kyle, Tjernagel, Jennifer, Spiro, John, Reymond, Alexandre, Beckmann, Jacques, Chung, Wendy, Jacquemont, Sébastien, Zufferey, Flore, Mukherjee, Pratik, Sherr, Elliott

المصدر: Journal of Medical Genetics. 49(10)

مصطلحات موضوعية: Adolescent, Adult, Body Mass Index, Child, Child Development Disorders, Pervasive, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities, Female, Gene Order, Heterozygote, Humans, Intelligence Tests, Male, Phenotype, Syndrome, Young Adult

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3606w313Test
https://escholarship.org/content/qt3606w313/qt3606w313.pdfTest

المؤلفون: Celestino-Soper, Patrícia, B. S., Violante, Sara, Crawford, Emily, L., Luo, Rui, Lionel, Anath, C., Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard, E., Moss, Timothy, J., German, Jennifer, R., Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard, J., Stevenson, Roger, E., Buxbaum, Joseph, D., Betancur, Catalina, Scherer, Stephen, W., Sanders, Stephan, J., Geschwind, Daniel, H., Sutcliffe, James, S., Hurles, Matthew, E., Wanders, Ronald, J. A., Shaw, Chad, A., Leal, Suzanne, M., Cook, Edwin, H., Goin-Kochel, Robin, P., Vaz, Frédéric, M., Beaudet, Arthur, L.

المساهمون: Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Laboratory Genetic Metabolic Disease, Academic Medical Center - Academisch Medisch Centrum Amsterdam (AMC), University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA)-University of Amsterdam Amsterdam = Universiteit van Amsterdam (UvA), Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences-Universidade de Lisboa = University of Lisbon = Université de Lisbonne (ULISBOA), Department of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt University Nashville -Centers for Human Genetics Research and Molecular Neuroscience, Department of Human Genetics, UCLA, University of California Los Angeles (UCLA), University of California (UC)-University of California (UC)-Semel Institute, Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, 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), Human Genetics Center, The University of Texas Health Science Center at Houston (UTHealth), Department of Neurology, Johns Hopkins University (JHU), Texas Children's Hospital Houston, USA, Department of psychiatry, Department of Psychiatry and Behavioural Neurosciences, McMaster University Hamilton, Ontario -Offord Centre for Child Studies, Autism Research Unit, The Hospital for sick children Toronto (SickKids)-University of Toronto, Disciplines of Genetics and Medicine, Memorial University of Newfoundland = Université Memorial de Terre-Neuve St. John's, Canada (MUN), The Greenwood Genetic Center, Departments of Psychiatry and Genetics, Yale School of Medicine New Haven, Connecticut (YSM), Department of Psychiatry, Institute for Juvenile Research-University of Illinois Chicago (UIC), University of Illinois System-University of Illinois System, Department of pediatrics, The AGRE is a program of Autism Speaks and is supported, in part, by Grant 1U24MH081810 from the National Institute of Mental Health (to Clara M. Lajonchere). Part of this work was supported by Grant SFARI 124827 from the Simons Foundation (to the investigators of the SSC Genetic Consortium) and Grant HD-37283 (to A.L.B) and Grant P30HD-0240640 from the National Institutes of Health. Part of this work was financially supported by the Fundação para a Ciência e Tecnologia, Lisbon, Portugal, by Grant SFRH/BD/38074/2007 (to. S.V.). Part of this work was supported by National Institutes of Health Grants R01 MH061009 and R01 NS049261 (to J.S.S.). Funding for part of this work was provided by the Wellcome Trust under Award 076113 and by Grant 077014/Z/05/Z. Funding for the Paris Autism Research International Sibpair study was provided, in part, by the Institut National de la Santé et de la Recherche Médicale, Fondation de France, Fondation Orange, Fondation pour la Recherche Médicale, Assistance Publique- Hôpitaux de Paris, and the Swedish Science Council.

المصدر: ISSN: 0027-8424.

مصطلحات موضوعية: MESH: Autistic Disorder, MESH: Carnitine, MESH: Genes, X-Linked, MESH: Humans, MESH: Male, MESH: Metabolism, Inborn Errors, MESH: Mixed Function Oxygenases, MESH: Penetrance, MESH: Risk Factors, MESH: Siblings, MESH: Chromosomes, Human, MESH: Cognition, MESH: Exons, MESH: Gene Deletion, [SDV.GEN]Life Sciences [q-bio]/Genetics

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/22566635; inserm-00696112; https://inserm.hal.science/inserm-00696112Test; https://inserm.hal.science/inserm-00696112/documentTest; https://inserm.hal.science/inserm-00696112/file/PNAS-2012-Celestino-Soper-1120210109.pdfTest; PUBMED: 22566635

الإتاحة: https://doi.org/10.1073/pnas.1120210109Test
https://inserm.hal.science/inserm-00696112Test
https://inserm.hal.science/inserm-00696112/documentTest
https://inserm.hal.science/inserm-00696112/file/PNAS-2012-Celestino-Soper-1120210109.pdfTest