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1 |
Material Type: Artigo
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disordersLeblond, Claire S ; Heinrich, Jutta ; Delorme, Richard ; Proepper, Christian ; Betancur, Catalina ; Huguet, Guillaume ; Konyukh, Marina ; Chaste, Pauline ; Ey, Elodie ; Rastam, Maria ; Anckarsäter, Henrik ; Nygren, Gudrun ; Gillberg, I Carina ; Melke, Jonas ; Toro, Roberto ; Regnault, Beatrice ; Fauchereau, Fabien ; Mercati, Oriane ; Lemière, Nathalie ; Skuse, David ; Poot, Martin ; Holt, Richard ; Monaco, Anthony P ; Järvelä, Irma ; Kantojärvi, Katri ; Vanhala, Raija ; Curran, Sarah ; Collier, David A ; Bolton, Patrick ; Chiocchetti, Andreas ; Klauck, Sabine M ; Poustka, Fritz ; Freitag, Christine M ; Waltes, Regina ; Kopp, Marnie ; Duketis, Eftichia ; Bacchelli, Elena ; Minopoli, Fiorella ; Ruta, Liliana ; Battaglia, Agatino ; Mazzone, Luigi ; Maestrini, Elena ; Sequeira, Ana F ; Oliveira, Barbara ; Vicente, Astrid ; Oliveira, Guiomar ; Pinto, Dalila ; Scherer, Stephen W ; Zelenika, Diana ; Delepine, Marc ; Lathrop, Mark ; Bonneau, Dominique ; Guinchat, Vincent ; Devillard, Françoise ; Assouline, Brigitte ; Mouren, Marie-Christine ; Leboyer, Marion ; Gillberg, Christopher ; Boeckers, Tobias M ; Bourgeron, Thomas State, MatthewPLoS genetics, 2012-02, Vol.8 (2), p.e1002521 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairmentsLeblond, Claire S ; Nava, Caroline ; Polge, Anne ; Gauthier, Julie ; Huguet, Guillaume ; Lumbroso, Serge ; Giuliano, Fabienne ; Stordeur, Coline ; Depienne, Christel ; Mouzat, Kevin ; Pinto, Dalila ; Howe, Jennifer ; Lemière, Nathalie ; Durand, Christelle M ; Guibert, Jessica ; Ey, Elodie ; Toro, Roberto ; Peyre, Hugo ; Mathieu, Alexandre ; Amsellem, Frédérique ; Rastam, Maria ; Gillberg, I Carina ; Rappold, Gudrun A ; Holt, Richard ; Monaco, Anthony P ; Maestrini, Elena ; Galan, Pilar ; Heron, Delphine ; Jacquette, Aurélia ; Afenjar, Alexandra ; Rastetter, Agnès ; Brice, Alexis ; Devillard, Françoise ; Assouline, Brigitte ; Laffargue, Fanny ; Lespinasse, James ; Chiesa, Jean ; Rivier, François ; Bonneau, Dominique ; Regnault, Beatrice ; Zelenika, Diana ; Delepine, Marc ; Lathrop, Mark ; Sanlaville, Damien ; Schluth-Bolard, Caroline ; Edery, Patrick ; Perrin, Laurence ; Tabet, Anne Claude ; Schmeisser, Michael J ; Boeckers, Tobias M ; Coleman, Mary ; Sato, Daisuke ; Szatmari, Peter ; Scherer, Stephen W ; Rouleau, Guy A ; Betancur, Catalina ; Leboyer, Marion ; Gillberg, Christopher ; Delorme, Richard ; Bourgeron, Thomas Barsh, Gregory S.PLoS genetics, 2014-09, Vol.10 (9), p.e1004580-e1004580 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathwaysNardone, S ; Sams, D Sharan ; Reuveni, E ; Getselter, D ; Oron, O ; Karpuj, M ; Elliott, ETranslational psychiatry, 2014-09, Vol.4 (9), p.e433-e433 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Pleiotropic Mechanisms Indicated for Sex Differences in AutismMitra, Ileena ; Tsang, Kathryn ; Ladd-Acosta, Christine ; Croen, Lisa A ; Aldinger, Kimberly A ; Hendren, Robert L ; Traglia, Michela ; Lavillaureix, Alinoë ; Zaitlen, Noah ; Oldham, Michael C ; Levitt, Pat ; Nelson, Stanley ; Amaral, David G ; Hertz-Picciotto, Irva ; Fallin, M Daniele ; Weiss, Lauren A Flint, JonathanPLoS genetics, 2016-11, Vol.12 (11), p.e1006425-e1006425 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Infantile zinc deficiency: association with autism spectrum disordersYasuda, Hiroshi ; Yoshida, Kazuya ; Yasuda, Yuichi ; Tsutsui, ToyoharuScientific reports, 2011-11, Vol.1 (1), p.129-129, Article 129 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disordersKong, Sek Won ; Collins, Christin D ; Shimizu-Motohashi, Yuko ; Holm, Ingrid A ; Campbell, Malcolm G ; Lee, In-Hee ; Brewster, Stephanie J ; Hanson, Ellen ; Harris, Heather K ; Lowe, Kathryn R ; Saada, Adrianna ; Mora, Andrea ; Madison, Kimberly ; Hundley, Rachel ; Egan, Jessica ; McCarthy, Jillian ; Eran, Ally ; Galdzicki, Michal ; Rappaport, Leonard ; Kunkel, Louis M ; Kohane, Isaac S Esteban, Francisco JoséPloS one, 2012-12, Vol.7 (12), p.e49475-e49475 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genesHe, Xin ; Sanders, Stephan J ; Liu, Li ; De Rubeis, Silvia ; Lim, Elaine T ; Sutcliffe, James S ; Schellenberg, Gerard D ; Gibbs, Richard A ; Daly, Mark J ; Buxbaum, Joseph D ; State, Matthew W ; Devlin, Bernie ; Roeder, Kathryn Williams, Scott M.PLoS genetics, 2013-08, Vol.9 (8), p.e1003671-e1003671 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Use of machine learning to shorten observation-based screening and diagnosis of autismWall, D P ; Kosmicki, J ; Deluca, T F ; Harstad, E ; Fusaro, V ATranslational psychiatry, 2012-04, Vol.2 (4), p.e100-e100 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Networks of neuronal genes affected by common and rare variants in autism spectrum disordersBen-David, Eyal ; Shifman, Sagiv Gibson, GregPLoS genetics, 2012-03, Vol.8 (3), p.e1002556-e1002556 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controlsLiu, Li ; Sabo, Aniko ; Neale, Benjamin M ; Nagaswamy, Uma ; Stevens, Christine ; Lim, Elaine ; Bodea, Corneliu A ; Muzny, Donna ; Reid, Jeffrey G ; Banks, Eric ; Coon, Hillary ; Depristo, Mark ; Dinh, Huyen ; Fennel, Tim ; Flannick, Jason ; Gabriel, Stacey ; Garimella, Kiran ; Gross, Shannon ; Hawes, Alicia ; Lewis, Lora ; Makarov, Vladimir ; Maguire, Jared ; Newsham, Irene ; Poplin, Ryan ; Ripke, Stephan ; Shakir, Khalid ; Samocha, Kaitlin E ; Wu, Yuanqing ; Boerwinkle, Eric ; Buxbaum, Joseph D ; Cook, Jr, Edwin H ; Devlin, Bernie ; Schellenberg, Gerard D ; Sutcliffe, James S ; Daly, Mark J ; Gibbs, Richard A ; Roeder, Kathryn Zeggini, EleftheriaPLoS genetics, 2013-04, Vol.9 (4), p.e1003443-e1003443 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |