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المؤلفون: Melanie Penner, Lili Senman, Lana Andoni, Annie Dupuis, Evdokia Anagnostou, Shawn Kao, Abbie Solish, Michelle Shouldice, Genevieve Ferguson, Jessica Brian
المصدر: JAMA Network Open. 6:e2252879
مصطلحات موضوعية: General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4b96014b2b45cf8e951d6043b8900686Test
https://doi.org/10.1001/jamanetworkopen.2022.52879Test -
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المؤلفون: Melanie Penner, Lili Senman, Lana Andoni, Annie Dupuis, Evdokia Anagnostou, Abbie Solish, Michelle Shouldice, Shawn Kao, Jessica Brian
المصدر: Journal of the American Academy of Child & Adolescent Psychiatry. 61:S239
مصطلحات موضوعية: Psychiatry and Mental health, Developmental and Educational Psychology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::60d470bf54549e49b733abc5350b07ffTest
https://doi.org/10.1016/j.jaac.2022.09.314Test -
3دورية أكاديمية
المؤلفون: Peter Szatmari, Andrew Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-qing Liu, John Vincent, Jennifer Skaug, Ann Thompson, Lili Senman, Hal Id Inserm
المساهمون: The Pennsylvania State University CiteSeerX Archives
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4دورية أكاديمية
المؤلفون: Abdul Noor, Annabel Whibley, Christian R. Marshall, Peter J. Gianakopoulos, Andrew R. Carson, Marija Orlic-milacic, Anath Lionel, Daisuke Sato, Irene Drmic, Carolyn Noakes, Lili Senman, Xiaoyun Zhang, Rong Mo, Jennifer Crosbie, Alistair T. Pagnamenta, Jeffrey Munson, Annette M, Angela F. Brady, Charles E. Schwartz, Russell J. Schachar, Anthony P. Monaco, A. Rouleau, Chi-chung Hui, F. Lucy Raymond, Stephen W. Scherer, John B
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
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المؤلفون: Christian R. Marshall, Annette Estes, John Wei, Janet A. Buchanan, Jennifer L. Howe, Christina Chrysler, Weili Li, Tara Paton, Fiona Tsoi, Zhuozhi Wang, Brendan J. Frey, Eric Deneault, Edwin H. Cook, William Van Etten, Stephen W. Scherer, Mohammed Uddin, Mayada Elsabbagh, Emily Kirby, Sylvia Lamoureux, Cheryl Cytrynbaum, Bhooma Thiruvahindrapuram, Mathew T. Pletcher, Lonnie Zwaigenbaum, Wilson W L Sung, Angie Fedele, Daniele Merico, Bartha Maria Knoppers, Ryan K. C. Yuen, Marc Woodbury-Smith, Worrawat Engchuan, Vicki Seifer, Isabel M. Smith, Barbara Kellam, Bonnie Mackinnon Modi, Stephanie Koyanagi, Bridget A. Fernandez, James T. Robinson, Karen Ho, Edward J Higginbotham, Joe Whitney, Krissy A.R. Doyle-Thomas, Beth A. Malow, Susan Walker, Jeremy R. Parr, Louise Gallagher, Rob Nicolson, Jonathan Bingham, Thomas Nalpathamkalam, Lia D’Abate, Sanne Jilderda, Matt Bookman, Jessica Brian, Sarah J. Spence, Ann Thompson, Jonathan Leef, Rosanna Weksberg, Jacob A. S. Vorstman, Tal Savion-Lemieux, Anne Marie Tassé, Peter Szatmari, Alana Iaboni, Xudong Liu, Evdokia Anagnostou, Jeffrey R. MacDonald, Ny Hoang, Mehdi Zarrei, Lizhen Xu, Simon N. Twigger, Robert H. Ring, Stephen R. Dager, Melissa T. Carter, Irene Drmic, Michael J. Szego, Wendy Roberts, Lili Senman, Giovanna Pellecchia, Rohan V. Patel, Sergio L. Pereira, Joachim Hallmayer, David Glazer, Lisa J. Strug, Ada J.S. Chan, Nicole A. Deflaux
المصدر: Nature Neuroscience, 20(4), 602. Nature Publishing Group
Paediatrics Publicationsمصطلحات موضوعية: 0301 basic medicine, Candidate gene, DNA Copy Number Variations, Autism Spectrum Disorder, Neuroscience(all), Biology, behavioral disciplines and activities, Polymorphism, Single Nucleotide, DNA sequencing, Article, 03 medical and health sciences, Genetic variation, mental disorders, Databases, Genetic, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Copy-number variation, Gene, Sequence Deletion, Whole genome sequencing, Genetics, Chromosome Aberrations, General Neuroscience, Autism spectrum disorders, medicine.disease, Phenotype, Mutagenesis, Insertional, 030104 developmental biology, Autism spectrum disorder, Next-generation sequencing, Genome-Wide Association Study
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https://europepmc.org/articles/PMC5501701Test/ -
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المؤلفون: Anath C. Lionel, Andrea K. Vaags, David A. Collier, Bridget A. Fernandez, Susan Walker, Dalila Pinto, Jennelle C. Hodge, Christina Chrysler, Irene Drmic, Daisuke Sato, Wendy Roberts, Eric Fombonne, Patrick Bolton, Peter Szatmari, Christian R. Marshall, Stephen W. Scherer, Caroline Mackie Ogilvie, Carolyn Russell, Dimitri J. Stavropoulos, McKinsey L. Goodenberger, Sarah Curran, Lili Senman, Lonnie Zwaigenbaum, Aparna Prasad, Joo Wook Ahn, Quinn Stein, Ann Thompson
المصدر: The American Journal of Human Genetics. 90(1):133-141
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Copy Number Variations, Neurexin, Nerve Tissue Proteins, Penetrance, Locus (genetics), Biology, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Report, mental disorders, medicine, Genetics, Humans, Gene family, Genetics(clinical), Child, Genetics (clinical), 030304 developmental biology, Chromosomes, Human, Pair 14, 0303 health sciences, Point mutation, medicine.disease, Pedigree, Child Development Disorders, Pervasive, Genetic Loci, Autism spectrum disorder, Child, Preschool, Autism, Female, Gene Deletion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a950997348656c4e65e40c29057e24aTest
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المؤلفون: Lars Feuk, Lili Senman, Jessica Brian, Lucy R. Osborne, Ikuko Teshima, Małgorzata J.M. Nowaczyk, Stephen W. Scherer, Wendy Roberts, Susan Zeesman, Janis Oram Cardy
المصدر: American Journal of Medical Genetics Part A. :509-514
مصطلحات موضوعية: Apraxias, Speech Disorders, Speech and language impairment, Gene mapping, Communication disorder, Genetics, Humans, Medicine, Abnormalities, Multiple, In Situ Hybridization, Fluorescence, Genetics (clinical), Language Disorders, FOXP2 Gene, business.industry, Oromotor dyspraxia, Chromosome Mapping, Forkhead Transcription Factors, FOXP2, Karyotype, medicine.disease, Chromosome Banding, Child, Preschool, Karyotyping, Female, Chromosome Deletion, Haploinsufficiency, business, Chromosomes, Human, Pair 7, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b311a2faae9440cbd481afef3e139d5bTest
https://doi.org/10.1002/ajmg.a.31110Test -
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المؤلفون: Veronica J. Vieland, Stephen W. Scherer, Elizabeth A. Heron, Barbara Parrini, Jeremy R. Parr, Louise Gallagher, Jeff Munson, Annemarie Poustka, Susan E. Folstein, Irene Drmic, Gudrun Nygren, John P. Rice, Jeff Salt, Simon Wallace, Geraldine Dawson, Daniel H. Geschwind, Annette Estes, Sean Brennan, Alistair T. Pagnamenta, Nancy J. Minshew, Christina Corsello, Jonathan Green, William M. McMahon, Christopher Gillberg, Kathryn Roeder, Lambertus Klei, Anath C. Lionel, Bridget A. Fernandez, Thomas Bourgeron, Ellen M. Wijsman, Gerard D. Schellenberg, Wendy Roberts, Jeremy Goldberg, Frederico Duque, Ghazala Mirza, Sean Ennis, Joana Almeida, Nadine M. Melhem, Jillian P. Casey, Roberta Igliozzi, Ricardo Segurado, Carine Mantoulan, Katy Renshaw, Kai Wang, Andrew D. Paterson, Raffaella Tancredi, Matthew Nicholas Hill, Richard Anney, Christian R. Marshall, Anthony P. Monaco, Linda Lotspeich, Marion Leboyer, Richard Holt, Andrew Pickles, Vlad Kustanovich, William M. Mahoney, Jessica Brian, Inês Sousa, Peter Szatmari, Vanessa Hus, Janine A. Lamb, Hakon Hakonarson, Lonnie Zwaigenbaum, John Tsiantis, David J. Posey, Olena Korvatska, Guillermo Casallo, Rita M. Cantor, Bhooma Thiruvahindrapduram, Nadia Bolshakova, Sven Bölte, Alison K. Merikangas, Brian L. Yaspan, Cecilia Kim, Andrew Crossett, Fritz Poustka, Danielle Zurawiecki, Agatino Battaglia, Sabata C. Lund, Ann P. Thompson, Bennett L. Leventhal, Jessica Rickaby, Zhouzhi Wang, John I. Nurnberger, Astrid M. Vicente, Maretha de Jonge, Tiago R. Magalhaes, Michael L. Cuccaro, Val C. Sheffield, Nuala Sykes, Elena Maestrini, Guiomar Oliveira, Joseph D. Buxbaum, Fred R. Volkmar, Shawn Wood, Magdalena Laskawiec, Katherine Sansom, Herman van Engeland, Jane McGrath, Thomas H. Wassink, Su H. Chu, Elena Bacchelli, Carolyn Noakes, Ann Le Couteur, Catarina Correia, Ohsuke Migita, Bernie Devlin, Hilary Coon, Gillian Baird, Joseph Piven, Tom Berney, Ana Tryfon, Abdul Noor, Patrick Bolton, Latha Soorya, Vera Stoppioni, Stephen J. Guter, Joseph T. Glessner, Michael Gill, Christopher J. McDougle, Anthony J. Bailey, Margaret A. Pericak-Vance, Joachim Hallmayer, Christine M. Freitag, Penny Farrar, Kirsty Wing, Katherine E. Tansey, Bernadette Rogé, Michael Rutter, Christina Strawbridge, Brett S. Abrahams, Kerstin Wittemeyer, Laura J. Bierut, Tara Paton, Emily L. Crawford, Jonathan L. Haines, Alexander Kolevzon, Gillian Hughes, Lili Senman, James S. Sutcliffe, John B. Gilbert, Katerina Papanikolaou, Andrew R. Carson, Lynne E Cochrane, Regina Regan, Judith Miller, Susanne Thomson, Helen McConachie, Daisuke Sato, Richard Delorme, Jiannis Ragoussis, Eric Fombonne, Clara Lajonchere, Judith Conroy, Dalila Pinto, Aparna Prasad, Naisha Shah, Stanley F. Nelson, Sabine M. Klauck, Catalina Betancur, John B. Vincent, Eftichia Duketis, Jennifer L. Howe, Edwin H. Cook, Xiao-Qing Liu, Catherine Lord
المساهمون: Division of Mental Health and Addiction, Oslo University Hospital [Oslo], Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Program in Genetics and Genomic Biology, Hospital for Sick Children-University of Toronto McLaughlin Centre, 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-University of California-David Geffen School of Medicine [Los Angeles], University of California-University of California, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Unidade de Neurodesenvolvimento e Autismo (UNDA), Hospital Pediatrico de Coimbra, Department of Pharmacy and Biotechnology, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Department of Psychiatry, University of Oxford [Oxford]-Warneford Hospital, 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]-Centre National de la Recherche Scientifique (CNRS), Autism Research Unit, University of Toronto-The Hospital for sick children [Toronto] (SickKids), 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]-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-Université Paris Diderot - Paris 7 (UPD7), Department of Speech and Hearing Sciences [Washington], University of Washington [Seattle], Disciplines of Genetics and Medicine, Memorial University of Newfoundland [St. John's], John P. Hussman Institute for Human Genomics, University of Miami [Coral Gables], Department of Child Psychiatry, McGill University = Université McGill [Montréal, Canada]-Montreal Children's Hospital, McGill University Health Center [Montreal] (MUHC)-McGill University Health Center [Montreal] (MUHC), 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], Manchester Academic Health Sciences Centre, 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 [Philadelphia]-University of Pennsylvania [Philadelphia]-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), 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), Nathan Kline Institute for Psychiatric Research (NKI), Nathan Kline Institute for Psychiatric Research, New York University [New York] (NYU), NYU System (NYU)-NYU System (NYU)-NYU Child Study Center, Centre d'Etudes et de Recherches en PsychoPathologie, Université Toulouse - Jean Jaurès (UT2J), Indiana University School of Medicine, Indiana University System-Indiana University System, Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris [Pisa], Departments of Psychiatry and Neurology, Department of Psychiatry and Behavioral Sciences, Department of Human Genetics, Los Angeles, David Geffen School of Medicine [Los Angeles], University of California-University of California-University of California [Los Angeles] (UCLA), Centre for Addiction and Mental Health, Clarke Institute, University Department of Child Psychiatry, National and Kapodistrian University of Athens (NKUA), Institutes of Neuroscience and Health and Society, Department of Medicine, Manchester, University of Manchester [Manchester]-School of Epidemiology and Health Science, Carolina Institute for Developmental Disabilities, Social, Genetic and Developmental Psychiatry Centre, Washington University in Saint Louis (WUSTL), Howard Hughes Medical-Institute Carver College of Medicine-University of Iowa [Iowa City], Neuropsichiatria Infantile, Ospedale Santa Croce, Child Study Centre, Yale University School of Medicine, Carver College of Medicine [Iowa City], University of Iowa [Iowa City]-University of Iowa [Iowa City], University of Alberta, Physiopathologie des Maladies du Système Nerveux Central, Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC), Vanderbilt Brain Institute, Vanderbilt University School of Medicine [Nashville], Pathology and Laboratory Medicine, University of Pennsylvania [Philadelphia], Battelle Center for Mathematical Medicine, Ohio State University [Columbus] (OSU)-Nationwide Children's Hospital, Departments of Biostatistics and Medicine, This research was primarily supported by Autism Speaks (USA), the Health Research Board (HRB, Ireland), The Medical Research Council (MRC, UK), Genome Canada/Ontario Genomics Institute, and the Hilibrand Foundation (USA). Additional support for individual groups was provided by the US National Institutes of Health [HD055751, HD055782, HD055784, HD35465, MH52708, MH55284, MH057881, MH061009, MH06359, MH066673, MH077930, MH080647, MH081754, MH66766, NS026630, NS042165, NS049261], the Canadian Institutes for Health Research (CIHR), Assistance Publique-Hôpitaux de Paris (France), Autistica, Canada Foundation for Innovation/Ontario Innovation Trust, Deutsche Forschungsgemeinschaft (grant: Po 255/17-4) (Germany), EC Sixth FP AUTISM MOLGEN, Fundação Calouste Gulbenkian (Portugal), Fondation de France, Fondation FondaMental (France), Fondation Orange (France), Fondation pour la Recherche Médicale (France), Fundação para a Ciência e Tecnologia (Portugal), GlaxoSmithKline-CIHR Pathfinder Chair (Canada), the Hospital for Sick Children Foundation and University of Toronto (Canada), INSERM (France), Institut Pasteur (France), the Italian Ministry of Health [convention 181 of 19.10.2001], the John P Hussman Foundation (USA), McLaughlin Centre (Canada), Netherlands Organization for Scientific Research [Rubicon 825.06.031], Ontario Ministry of Research and Innovation (Canada), Royal Netherlands Academy of Arts and Sciences [TMF/DA/5801], the Seaver Foundation (USA), the Swedish Science Council, The Centre for Applied Genomics (Canada), the Utah Autism Foundation (USA) and the Wellcome Trust core award [075491/Z/04 UK]. Funding support for the Study of Addiction: Genetics and Environment (SAGE) was provided through the NIH Genes, Environment and Health Initiative [GEI] (U01 HG004422)., University of California (UC)-University of California (UC)-David Geffen School of Medicine [Los Angeles], University of California (UC)-University of California (UC), The Hospital for sick children [Toronto] (SickKids)-University of Toronto, Memorial University of Newfoundland = Université Memorial de Terre-Neuve [St. John's, Canada] (MUN), University of California (UC)-University of California (UC)-University of California [Los Angeles] (UCLA), University of Iowa [Iowa City]-Howard Hughes Medical-Institute Carver College of Medicine, Yale School of Medicine [New Haven, Connecticut] (YSM), 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), University of Oxford, University of Oxford-Warneford Hospital, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Pennsylvania-University of Pennsylvania-Children’s Hospital of Philadelphia (CHOP ), Université de Toulouse (UT)-Université de Toulouse (UT), University of Pennsylvania, Betancur, Catalina, Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J.
المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩
Anney, R, Klei, L, Pinto, D, Regan, R, Conroy, J, Magalhaes, T R, Correia, C, Abrahams, B S, Sykes, N, Pagnamenta, A T, Almeida, J, Bacchelli, E, Bailey, A J, Baird, G, Battaglia, A, Berney, T, Bolshakova, N, Boelte, S, Bolton, P F, Bourgeron, T, Brennan, S, Brian, J, Carson, A R, Casallo, G, Casey, J, Chu, S H, Cochrane, L, Corsello, C, Crawford, E L, Crossett, A, Dawson, G, de Jonge, M, Delorme, R, Drmic, I, Duketis, E, Duque, F, Estes, A, Farrar, P, Fernandez, B A, Folstein, S E, Fombonne, E, Freitag, C M, Gilbert, J, Gillberg, C, Glessner, J T, Goldberg, J, Green, J, Guter, S J, Hakonarson, H, Heron, E A, Hill, M, Holt, R, Howe, J L, Hughes, G, Hus, V, Igliozzi, R, Kim, C, Klauck, S M, Kolevzon, A, Korvatska, O, Kustanovich, V, Lajonchere, C M, Lamb, J A, Laskawiec, M, Leboyer, M, Le Couteur, A, Leventhal, B L, Lionel, A C, Liu, X-Q, Lord, C, Lotspeich, L, Lund, S C, Maestrini, E, Mahoney, W, Mantoulan, C, Marshall, C R, McConachie, H, McDougle, C J, McGrath, J, McMahon, W M, Melhem, N M, Merikangas, A, Migita, O, Minshew, N J, Mirza, G K, Munson, J, Nelson, S F, Noakes, C, Noor, A, Nygren, G, Oliveira, G, Papanikolaou, K, Parr, J R, Parrini, B, Paton, T, Pickles, A, Piven, J, osey, D J, Poustka, A, Poustka, F, Prasad, A, Ragoussis, J, Renshaw, K, Rickaby, J, Roberts, W, Roeder, K, Roge, B, Rutter, M L, Bierut, L J, Rice, J P, Salt, J, Sansom, K, Sato, D, Segurado, R, Senman, L, Shah, N, Sheffield, V C, Soorya, L, Sousa, I, Stoppioni, V, Strawbridge, C, Tancredi, R, Tansey, K, Thiruvahindrapduram, B, Thompson, A P, Thomson, S, Tryfon, A, Tsiantis, J, Van Engeland, H, Vincent, J B, Volkmar, F, Wallace, S, Wang, K, Wang, Z, Wassink, T H, Wing, K, Wittemeyer, K, Wood, S, Yaspan, B L, Zurawiecki, D, Zwaigenbaum, L, Betancur, C, Buxbaum, J D, Cantor, R M, Cook, E H, Coon, H, Cuccaro, M L, Gallagher, L, Geschwind, D H, Gill, M, Haines, J L, Miller, J, Monaco, A P, Nurnberger, J I, Paterson, A D, Pericak-Vance, M A, Schellenberg, G D, Scherer, S W, Sutcliffe, J S, Szatmari, P, Vicente, A M, Vieland, V J, Wijsman, E M, Devlin, B, Ennis, S & Hallmayer, J 2010, ' A genome-wide scan for common alleles affecting risk for autism ', Human Molecular Genetics, vol. 19, no. 20, ddq307, pp. 4072-4082 . https://doi.org/10.1093/hmg/ddq307Test
Human Molecular Genetics, 2010, 19 (20), pp.4072-82. ⟨10.1093/hmg/ddq307⟩مصطلحات موضوعية: Genome-wide association study, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Genotype, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Databases, Genetic, Copy-number variation, MESH: Genetic Variation, Genetics (clinical), MESH: Databases, Genetic, Genetics, 0303 health sciences, education.field_of_study, MESH: Polymorphism, Single Nucleotide, Association Studies Articles, MESH: Genetic Predisposition to Disease, General Medicine, MESH: European Continental Ancestry Group, Autism spectrum disorders, MESH: DNA Copy Number Variations, Genotyping, DNA Copy Number Variations, Genotype, Population, MESH: Autistic Disorder, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Genetic variation, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Autistic Disorder, SNP association, education, Molecular Biology, Alleles, MESH: Genome, Human, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Genome, Human, MESH: Alleles, Haplotype, Genetic Variation, Genetic architecture, Perturbações do Desenvolvimento Infantil e Saúde Mental, MESH: Genome-Wide Association Study, 030217 neurology & neurosurgery, Genome-Wide Association Study
وصف الملف: application/pdf; application/octet-stream; STAMPA
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https://www.hal.inserm.fr/inserm-00521391Test -
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المؤلفون: Peter, Szatmari, Andrew D, Paterson, Lonnie, Zwaigenbaum, Wendy, Roberts, Jessica, Brian, Xiao-Qing, Liu, John B, Vincent, Jennifer L, Skaug, Ann P, Thompson, Lili, Senman, Lars, Feuk, Cheng, Qian, Susan E, Bryson, Marshall B, Jones, Christian R, Marshall, Stephen W, Scherer, Veronica J, Vieland, Christopher, Bartlett, La Vonne, Mangin, Rhinda, Goedken, Alberto, Segre, Margaret A, Pericak-Vance, Michael L, Cuccaro, John R, Gilbert, Harry H, Wright, Ruth K, Abramson, Catalina, Betancur, Thomas, Bourgeron, Christopher, Gillberg, Marion, Leboyer, Joseph D, Buxbaum, Kenneth L, Davis, Eric, Hollander, Jeremy M, Silverman, Joachim, Hallmayer, Linda, Lotspeich, James S, Sutcliffe, Jonathan L, Haines, Susan E, Folstein, Joseph, Piven, Thomas H, Wassink, Val, Sheffield, Daniel H, Geschwind, Maja, Bucan, W Ted, Brown, Rita M, Cantor, John N, Constantino, T Conrad, Gilliam, Martha, Herbert, Clara, Lajonchere, David H, Ledbetter, Christa, Lese-Martin, Janet, Miller, Stan, Nelson, Carol A, Samango-Sprouse, Sarah, Spence, Matthew, State, Rudolph E, Tanzi, Hilary, Coon, Geraldine, Dawson, Bernie, Devlin, Annette, Estes, Pamela, Flodman, Lambertus, Klei, William M, McMahon, Nancy, Minshew, Jeff, Munson, Elena, Korvatska, Patricia M, Rodier, Gerard D, Schellenberg, Moyra, Smith, M Anne, Spence, Chris, Stodgell, Ping Guo, Tepper, Ellen M, Wijsman, Chang-En, Yu, Bernadette, Rogé, Carine, Mantoulan, Kerstin, Wittemeyer, Annemarie, Poustka, Bärbel, Felder, Sabine M, Klauck, Claudia, Schuster, Fritz, Poustka, Sven, Bölte, Sabine, Feineis-Matthews, Evelyn, Herbrecht, Gabi, Schmötzer, John, Tsiantis, Katerina, Papanikolaou, Elena, Maestrini, Elena, Bacchelli, Francesca, Blasi, Simona, Carone, Claudio, Toma, Herman, Van Engeland, Maretha, de Jonge, Chantal, Kemner, Frederieke, Koop, Frederike, Koop, Marjolein, Langemeijer, Marjolijn, Langemeijer, Channa, Hijmans, Channa, Hijimans, Wouter G, Staal, Gillian, Baird, Patrick F, Bolton, Michael L, Rutter, Emma, Weisblatt, Jonathan, Green, Catherine, Aldred, Julie-Anne, Wilkinson, Andrew, Pickles, Ann, Le Couteur, Tom, Berney, Helen, McConachie, Anthony J, Bailey, Kostas, Francis, Gemma, Honeyman, Aislinn, Hutchinson, Jeremy R, Parr, Simon, Wallace, Anthony P, Monaco, Gabrielle, Barnby, Kazuhiro, Kobayashi, Janine A, Lamb, Ines, Sousa, Nuala, Sykes, Edwin H, Cook, Stephen J, Guter, Bennett L, Leventhal, Jeff, Salt, Catherine, Lord, Christina, Corsello, Vanessa, Hus, Daniel E, Weeks, Fred, Volkmar, Maïté, Tauber, Eric, Fombonne, Andy, Shih, Kacie J, Meyer
المساهمون: Department of Psychiatry and Behavioural Neurosciences, McMaster University [Hamilton, Ontario]-Offord Centre for Child Studies, The Centre for Applied Genomics, Toronto, University of Toronto-The Hospital for sick children [Toronto] (SickKids)-Department of Molecular Genetics-McLaughlin Centre, Department of Pediatrics, University of Alberta, Autism Research Unit, The Hospital for sick children [Toronto] (SickKids)-University of Toronto, Department of Psychiatry, University of Toronto, Departments of Pediatrics and Psychology, Dalhousie University [Halifax], Department of Neural and Behavioral Sciences, Pennsylvania State University (Penn State), Penn State System-Penn State System, Department of Molecular Genetics [Toronto], Battelle Center for Mathematical Medicine, Ohio State University [Columbus] (OSU)-Nationwide Children's Hospital, Department of Pathology and Laboratory Medicine, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Department of Computer Science, University of Iowa [Iowa City], John P. Hussman Institute for Human Genomics, University of Miami [Coral Gables], W.S. Hall Psychiatric Institute, University of South Carolina [Columbia], 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), Génétique Humaine et Fonctions Cognitives, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Gillberg Neuropsychiatry Centre [Göteborg, Sueden], Institute of Neuroscience and Physiology [Göteborg]-University of Gothenburg (GU), Institute of Child Health, University College of London [London] (UCL), 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), Friedman Brain Institute, Mount Sinai, Icahn School of Medicine at Mount Sinai [New York] (MSSM), Department of Neuroscience, PennState Meteorology Department, Department of Psychiatry [Pittsburgh], University of Pittsburgh School of Medicine, Pennsylvania Commonwealth System of Higher Education (PCSHE)-Pennsylvania Commonwealth System of Higher Education (PCSHE), Stanford School of Medicine [Stanford], Stanford Medicine, Stanford University-Stanford University, Department of Psychiatry and Behavioral Sciences [Stanford], Vanderbilt Brain Institute, Vanderbilt University School of Medicine [Nashville], Department of Molecular Physiology & Biophysics and Psychiatry, Vanderbilt University [Nashville]-Centers for Human Genetics Research and Molecular Neuroscience, Johns Hopkins University (JHU), Carolina Institute for Developmental Disabilities, Carver College of Medicine [Iowa City], University of Iowa [Iowa City]-University of Iowa [Iowa City], University of Iowa [Iowa City]-Howard Hughes Medical-Institute Carver College of Medicine, Department of Neurology, UCLA School of Medicine, Department of Genetics, University of Pennsylvania [Philadelphia]-School of Medicine, N.Y.S. Institute for Basic Research in Developmental Disabilities, Department of Human Genetics, UCLA, University of California [Los Angeles] (UCLA), University of California-University of California-Semel Institute, Washington University in Saint Louis (WUSTL), University of Chicago, Harvard Medical School [Boston] (HMS), Autism Genetic Resource Exchange, Autism Speaks, Emory University [Atlanta, GA], Developmental Brain and Behaviour Unit, University of Southampton, Cure Autism Now, Institute of Human Genetics, Rheinische Friedrich-Wilhelms-Universität Bonn, Children's National Medical Center, The George Washington University (GW), Massachusetts General Hospital, Massachusetts General Hospital [Boston], Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris [Pisa], Autism Speaks and the Department of Psychiatry, Department of Speech and Hearing Sciences [Washington], University of Washington [Seattle], University of California [Irvine] (UCI), University of California-University of California, Department of Psychiatry and Behavioral Sciences, Department of OB/GYN, University of Rochester Medical Center, Pathology and Laboratory Medicine, University of Pennsylvania [Philadelphia], Department of Epidemiology, University of Pittsburgh (PITT), Departments of Biostatistics and Medicine, Department of Medicine, Octogone Unité de Recherche Interdisciplinaire (Octogone), Université Toulouse - Jean Jaurès (UT2J), Centre de Référence du Syndrome de Prader-Willi, CHU Toulouse [Toulouse], University of Oxford [Oxford]-Warneford Hospital, Division of Molecular Genome Analysis, German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, Goethe-Universität Frankfurt am Main, University Department of Child Psychiatry, National and Kapodistrian University of Athens (NKUA), Department of Pharmacy and Biotechnology, Alma Mater Studiorum Università di Bologna [Bologna] (UNIBO), Medical Genetics Laboratory, Policlinico S. Orsola-Malpighi, University Medical Center [Utrecht]-Brain Center Rudolf Magnus, Department of Neurocognition, Maastricht University [Maastricht], Newcomen Centre, Guy's Hospital [London], Department of Child and Adolescent Psychiatry, Institute of psychiatry, MRC Social, Genetic and Developmental Psychiatry Centre (SGDP), The Institute of Psychiatry-King‘s College London, University of Cambridge Clinical School, University of Cambridge [UK] (CAM), Manchester Academic Health Sciences Centre, Department of Medicine, Manchester, University of Manchester [Manchester]-School of Epidemiology and Health Science, Newcastle University [Newcastle]-Institute of Health & Society (Child & Adolescent Psychiatry), Child and Adolescent Mental Health, Newcastle University [Newcastle], Institutes of Neuroscience and Health and Society, The Wellcome Trust Centre for Human Genetics [Oxford], University of Oxford [Oxford], Centre for Integrated Genomic Medical Research, Manchester, University of Manchester [Manchester], Institute for Juvenile Research-University of Illinois [Chicago] (UIC), University of Illinois System-University of Illinois System, Institute for Juvenile Research, University of Illinois [Chicago] (UIC), Department of Disability and Human Development, New York University [New York] (NYU), NYU System (NYU)-NYU System (NYU), Autism and Communicative Disorders Centre, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Human Genetics Department, SFU Discrete Mathematics Group (SFU-DMG), Simon Fraser University (SFU.ca), Child Study Centre, Yale University School of Medicine, Centre d'Endocrinologie, Maladies Osseuses, Génétique et Gynécologie Médicale, Hôpital des Enfants, CHU Toulouse [Toulouse]-CHU Toulouse [Toulouse], Department of Child Psychiatry, McGill University = Université McGill [Montréal, Canada]-Montreal Children's Hospital, McGill University Health Center [Montreal] (MUHC)-McGill University Health Center [Montreal] (MUHC), Scientific Affairs, Autism Genome Project Consortium, RS: FPN CN II, Cognitive Neuroscience, MUMC+: HZC Klinische Neurofysiologie (5), The Hospital for sick children [Toronto] (SickKids)-University of Toronto-Department of Molecular Genetics-McLaughlin Centre, University of California (UC)-University of California (UC)-Semel Institute, University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), King‘s College London-The Institute of Psychiatry, Yale School of Medicine [New Haven, Connecticut] (YSM), Betancur, Catalina, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Pennsylvania-School of Medicine, University of Pennsylvania, Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), University of Oxford-Warneford Hospital, University of Oxford, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT), Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, Feuk L, Qian C, Bryson SE, Jones MB, Marshall CR, Scherer SW, Vieland VJ, Bartlett C, Mangin LV, Goedken R, Segre A, Pericak-Vance MA, Cuccaro ML, Gilbert JR, Wright HH, Abramson RK, Betancur C, Bourgeron T, Gillberg C, Leboyer M, Buxbaum JD, Davis KL, Hollander E, Silverman JM, Hallmayer J, Lotspeich L, Sutcliffe JS, Haines JL, Folstein SE, Piven J, Wassink TH, Sheffield V, Geschwind DH, Bucan M, Brown WT, Cantor RM, Constantino JN, Gilliam TC, Herbert M, Lajonchere C, Ledbetter DH, Lese-Martin C, Miller J, Nelson S, Samango-Sprouse CA, Spence S, State M, Tanzi RE, Coon H, Dawson G, Devlin B, Estes A, Flodman P, Klei L, McMahon WM, Minshew N, Munson J, Korvatska E, Rodier PM, Schellenberg GD, Smith M, Spence MA, Stodgell C, Tepper PG, Wijsman EM, Yu CE, Roge B, Mantoulan C, Wittemeyer K, Poustka A, Felder B, Klauck SM, Schuster C, Poustka F, Bolte S, Feineis-Matthews S, Herbrecht E, Schmotzer G, Tsiantis J, Papanikolaou K, Maestrini E, Bacchelli E, Blasi F, Carone S, Toma C, Van Engeland H, de Jonge M, Kemner C, Koop F, Langemeijer M, Hijimans C, Staal WG, Baird G, Bolton PF, Rutter ML, Weisblatt E, Green J, Aldred C, Wilkinson JA, Pickles A, Le Couteur A, Berney T, McConachie H, Bailey AJ, Francis K, Honeyman G, Hutchinson A, Parr JR, Wallace S, Monaco AP, Barnby G, Kobayashi K, Lamb JA, Sousa I, Sykes N, Cook EH, Guter SJ, Leventhal BL, Salt J, Lord C, Corsello C, Hus V, Weeks DE, Volkmar F, Tauber M, Fombonne E, Shih A.
المصدر: Nature Genetics
Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.319-28. ⟨10.1038/ng1985⟩
Nature Genetics, 39(3), 319-28. Nature Publishing Group
Nature Genetics, 2007, 39 (3), pp.319-28. ⟨10.1038/ng1985⟩
Szatmari, P, Paterson, A D, Zwaigenbaum, L, Roberts, W, Brian, J, Liu, X-Q, Vincent, J B, Skaug, J L, Thompson, A P, Senman, L, Feuk, L, Qian, C, Bryson, S E, Jones, M B, Marshall, C R, Scherer, S W, Vieland, V J, Bartlett, C, Mangin, L V, Goedken, R, Segre, A, Pericak-Vance, M A, Cuccaro, M L, Gilbert, J R, Wright, H H, Abramson, R K, Betancur, C, Bourgeron, T, Gillberg, C, Leboyer, M, Buxbaum, J D, Davis, K L, Hollander, E, Silverman, J M, Hallmayer, J, Lotspeich, L, Sutcliffe, J S, Haines, J L, Folstein, S E, Piven, J, Wassink, T H, Sheffield, V, Geschwind, D H, Bucan, M, Brown, W T, Cantor, R M, Constantino, J N, Baird, G, Bolton, P F, Rutter, M L 2007, ' Mapping autism risk loci using genetic linkage and chromosomal rearrangements ', Nature Genetics, vol. 39, no. 3, pp. 319-328 . https://doi.org/10.1038/ng1985Testمصطلحات موضوعية: Male, genetic structures, Genetic Linkage, Neurexin, [SDV.GEN] Life Sciences [q-bio]/Genetics, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Heritability of autism, Copy-number variation, MESH: Genetic Variation, Genetics, 0303 health sciences, medicine.diagnostic_test, MESH: Genetic Testing, MESH: Genetic Predisposition to Disease, Chromosome Mapping, 3. Good health, Female, MESH: Genetic Linkage, MESH: Autistic Disorder, Epigenetics of autism, Biology, Article, 03 medical and health sciences, Genetic linkage, mental disorders, medicine, Humans, MESH: Chromosome Aberrations, Family, Genetic Predisposition to Disease, Genetic Testing, Autistic Disorder, MESH: Family, 030304 developmental biology, Genetic testing, Chromosome Aberrations, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Genetic Variation, medicine.disease, Genetic architecture, MESH: Male, MESH: Lod Score, Autism, Lod Score, MESH: Chromosome Mapping, MESH: Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf; STAMPA
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b4ba5a0896229e2dd78390a6ddd5723Test
https://www.hal.inserm.fr/inserm-00937094/file/AGP_Nat_Genet_2007.pdfTest -
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المؤلفون: Katariina Hannula-Jouppi, John B. Vincent, Wendy Roberts, Batsheva Kerem, Aino Kalervo, Danielle Hartung, Stephen W. Scherer, Janis Oram Cardy, Marita Lipsanen-Nyman, Micheil Innes, Małgorzata J.M. Nowaczyk, Juha Kere, Joseph Rivlin, Anne Summers, Lili Senman, Brenda Finucane, Lars Feuk, Jennifer Skaug, Peter Szatmari, Lucy R. Osborne, Kazuhiko Nakabayashi, Virginia Wong, Susan Zeesman
المصدر: University of Helsinki
مصطلحات موضوعية: Male, Apraxias, Molecular Sequence Data, Gene Expression, Chromosomal translocation, Forkhead Transcription Factors - genetics, Biology, Polymerase Chain Reaction, Translocation, Genetic, Cell Line, Craniofacial Abnormalities, Genomic Imprinting, 03 medical and health sciences, Chromosomes, Human, Pair 7 - genetics, 0302 clinical medicine, Report, Genetics, medicine, Humans, Fetal Growth Retardation - genetics, Genetics(clinical), Apraxias - genetics, Autistic Disorder, Developmental verbal dyspraxia, Growth Disorders, Genetics (clinical), 030304 developmental biology, Chromosome 7 (human), 0303 health sciences, Fetal Growth Retardation, FOXP2 Gene, Forkhead Transcription Factors, FOXP2, Syndrome, Uniparental Disomy, medicine.disease, Uniparental disomy, Autism spectrum disorder, Female, Genomic imprinting, Chromosomes, Human, Pair 7, Gene Deletion, 030217 neurology & neurosurgery
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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb9dc8ecc33de2ee0f3138928b42267Test
http://hdl.handle.net/10722/45215Test