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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders
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Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

Leblond, 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, Matthew

PLoS genetics, 2012-02, Vol.8 (2), p.e1002521 [Periódico revisado por pares]

United States: Public Library of Science

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2
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments
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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments

Leblond, 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 Science

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3
DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways
DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways
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DNA methylation analysis of the autistic brain reveals multiple dysregulated biological pathways

Nardone, S ; Sams, D Sharan ; Reuveni, E ; Getselter, D ; Oron, O ; Karpuj, M ; Elliott, E

Translational psychiatry, 2014-09, Vol.4 (9), p.e433-e433 [Periódico revisado por pares]

United States: Nature Publishing Group

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De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder
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De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder

Dong, Shan ; Walker, Michael F ; Carriero, Nicholas J ; DiCola, Michael ; Willsey, A Jeremy ; Ye, Adam Y ; Waqar, Zainulabedin ; Gonzalez, Luis E ; Overton, John D ; Frahm, Stephanie ; Keaney, 3rd, John F ; Teran, Nicole A ; Dea, Jeanselle ; Mandell, Jeffrey D ; Hus Bal, Vanessa ; Sullivan, Catherine A ; DiLullo, Nicholas M ; Khalil, Rehab O ; Gockley, Jake ; Yuksel, Zafer ; Sertel, Sinem M ; Ercan-Sencicek, A Gulhan ; Gupta, Abha R ; Mane, Shrikant M ; Sheldon, Michael ; Brooks, Andrew I ; Roeder, Kathryn ; Devlin, Bernie ; State, Matthew W ; Wei, Liping ; Sanders, Stephan J

Cell reports (Cambridge), 2014-10, Vol.9 (1), p.16-23 [Periódico revisado por pares]

United States: Elsevier

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5
Environmental toxicants and autism spectrum disorders: a systematic review
Environmental toxicants and autism spectrum disorders: a systematic review
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Environmental toxicants and autism spectrum disorders: a systematic review

Rossignol, D A ; Genuis, S J ; Frye, R E

Translational psychiatry, 2014-02, Vol.4 (2), p.e360-e360 [Periódico revisado por pares]

United States: Nature Publishing Group

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6
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations
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BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Basak, Anindita ; Hancarova, Miroslava ; Ulirsch, Jacob C ; Balci, Tugce B ; Trkova, Marie ; Pelisek, Michal ; Vlckova, Marketa ; Muzikova, Katerina ; Cermak, Jaroslav ; Trka, Jan ; Dyment, David A ; Orkin, Stuart H ; Daly, Mark J ; Sedlacek, Zdenek ; Sankaran, Vijay G

The Journal of clinical investigation, 2015-06, Vol.125 (6), p.2363-2368 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
Autism spectrum disorder: advances in evidence-based practice
Autism spectrum disorder: advances in evidence-based practice
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Autism spectrum disorder: advances in evidence-based practice

Anagnostou, Evdokia ; Zwaigenbaum, Lonnie ; Szatmari, Peter ; Fombonne, Eric ; Fernandez, Bridget A ; Woodbury-Smith, Marc ; Brian, Jessica ; Bryson, Susan ; Smith, Isabel M ; Drmic, Irene ; Buchanan, Janet A ; Roberts, Wendy ; Scherer, Stephen W

Canadian Medical Association journal (CMAJ), 2014-04, Vol.186 (7), p.509-519 [Periódico revisado por pares]

Canada: Joule Inc

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8
Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex
Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex
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Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

Reith, R. Michelle ; McKenna, James ; Wu, Henry ; Hashmi, S. Shahrukh ; Cho, Seo-Hee ; Dash, Pramod K ; Gambello, Michael J

Neurobiology of disease, 2013-03, Vol.51, p.93-103 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Pleiotropic Mechanisms Indicated for Sex Differences in Autism
Pleiotropic Mechanisms Indicated for Sex Differences in Autism
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Pleiotropic Mechanisms Indicated for Sex Differences in Autism

Mitra, 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, Jonathan

PLoS genetics, 2016-11, Vol.12 (11), p.e1006425-e1006425 [Periódico revisado por pares]

United States: Public Library of Science

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10
Infantile zinc deficiency: association with autism spectrum disorders
Infantile zinc deficiency: association with autism spectrum disorders
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Infantile zinc deficiency: association with autism spectrum disorders

Yasuda, Hiroshi ; Yoshida, Kazuya ; Yasuda, Yuichi ; Tsutsui, Toyoharu

Scientific reports, 2011-11, Vol.1 (1), p.129-129, Article 129 [Periódico revisado por pares]

England: Nature Publishing Group

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