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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Intellectual Disability and SHANK2[original query]
Functional impact of global rare copy number variation in autism spectrum disorders.
Nature 2010 Jul 466 (7304): 368-72.
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, 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 Catali
Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
Nature genetics 2010 Jun 42 (6): 489-91.
Berkel Simone, Marshall Christian R, Weiss Birgit, Howe Jennifer, Roeth Ralph, Moog Ute, Endris Volker, Roberts Wendy, Szatmari Peter, Pinto Dalila, Bonin Michael, Riess Angelika, Engels Hartmut, Sprengel Rolf, Scherer Stephen W, Rappold Gudrun
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS genetics 2014 Sep 10 (9): e1004580.
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 Thom
De novo 11q13.3q13.4 deletion in a patient with Fanconi renotubular syndrome and intellectual disability: Case report and review of literature.
Frontiers in pediatrics 2023 5 11 1097062.
Yingxiao Shen, Xiaoqin Xu, Jiansong Chen, Jingjing Wang, Guanping Dong, Ke Huang, Junfen Fu, Dingwen Wu, Wei
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