Human Genome Epidemiology Literature Finder
Records 1 - 23 (of 23 Records) |
Query Trace: SHANK2[original query] |
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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 |
A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis. European archives of psychiatry and clinical neuroscience 2012 Mar 262 (2): 117-24. Lennertz Leonhard, Wagner Michael, Wölwer Wolfgang, Schuhmacher Anna, Frommann Ingo, Berning Julia, Schulze-Rauschenbach Svenja, Landsberg Martin W, Steinbrecher Anja, Alexander Michael, Franke Petra E, Pukrop Ralf, Ruhrmann Stephan, Bechdolf Andreas, Gaebel Wolfgang, Klosterkötter Joachim, Häfner Heinz, Maier Wolfgang, Mössner Raina |
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. PLoS genetics 2012 Feb 8 (2): e1002521. 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 Thom |
Lack of association between NLGN3, NLGN4, SHANK2 and SHANK3 gene variants and autism spectrum disorder in a Chinese population. PloS one 2013 8 (2): e56639. Liu Yanyan, Du Yasong, Liu Wenwen, Yang Caohua, Liu Yan, Wang Hongyan, Gong Xiaoho |
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 |
Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2014 Jun 165B (4): 303-13. Noor Abdul, Lionel Anath C, Cohen-Woods Sarah, Moghimi Narges, Rucker James, Fennell Alanna, Thiruvahindrapuram Bhooma, Kaufman Liana, Degagne Bryan, Wei John, Parikh Sagar V, Muglia Pierandrea, Forte Julia, Scherer Stephen W, Kennedy James L, Xu Wei, McGuffin Peter, Farmer Anne, Strauss John, Vincent John |
The role of SHANK2 rare variants in schizophrenia susceptibility. Molecular psychiatry 2015 Aug . Costas |
Identification and functional characterization of rare SHANK2 variants in schizophrenia. Molecular psychiatry 2015 Jan . Peykov S, Berkel S, Schoen M, Weiss K, Degenhardt F, Strohmaier J, Weiss B, Proepper C, Schratt G, Nöthen M M, Boeckers T M, Rietschel M, Rappold G |
Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis. American journal of human genetics 2016 Apr 98 (4): 709-27. Qin Hai-De, Liao Xiao-Yu, Chen Yuan-Bin, Huang Shao-Yi, Xue Wen-Qiong, Li Fang-Fang, Ge Xiao-Song, Liu De-Qing, Cai Qiuyin, Long Jirong, Li Xi-Zhao, Hu Ye-Zhu, Zhang Shao-Dan, Zhang Lan-Jun, Lehrman Benjamin, Scott Alan F, Lin Dongxin, Zeng Yi-Xin, Shugart Yin Yao, Jia Wei-H |
Genomic characterization of tobacco/nut chewing HPV-negative early stage tongue tumors identify MMP10 asa candidate to predict metastases. Oral oncology 2017 9 73 56-64. Upadhyay Pawan, Gardi Nilesh, Desai Sanket, Chandrani Pratik, Joshi Asim, Dharavath Bhaskar, Arora Priyanca, Bal Munita, Nair Sudhir, Dutt Am |
Genetic association between SHANK2 polymorphisms and susceptibility to autism spectrum disorder. IUBMB life 2018 Jun . Bai Ye, Qiu Shuang, Li Yan, Li Yong, Zhong Weijing, Shi Meijuan, Zhu Xiaojuan, Jiang Huiyi, Yu Yaqin, Cheng Yi, Liu Yaw |
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. Human mutation 2019 Feb . Zhou Wei-Zhen, Zhang Jie, Li Ziyi, Lin Xiaojing, Li Jiarui, Wang Sheng, Yang Changhong, Wu Qixi, Ye Adam Yongxin, Wang Meng, Wang Dandan, Pu Tad Zhengzhang, Wu Yu-Yu, Wei Lipi |
SHANK1 polymorphisms and SNP-SNP interactions among SHANK family: A possible cue for recognition to autism spectrum disorder in infant age. Autism research : official journal of the International Society for Autism Research 2019 Jan . Qiu Shuang, Li Yan, Bai Ye, Shi Jikang, Cui Heran, Gu Yulu, Ren Yaxuan, Zhao Qian, Zhang Kaixin, Lu Meihan, Wang Yihan, Li Yong, Zhong Weijing, Zhu Xiaojuan, Liu Yunkai, Cheng Yi, Qiao Yichun, Liu Yaw |
Identification of SHANK2 Pathogenic Variants in a Chinese Uygur Population with Schizophrenia. Journal of molecular neuroscience : MN 2020 Sep . Zhang Han, Wang Dong, Chen Jianhua, Li Xiuli, Yi Qizhong, Shi Yongyo |
Somatic structural variation targets neurodevelopmental genes and identifies SHANK2 as a tumor suppressor in neuroblastoma. Genome research 2020 Aug . Lopez Gonzalo, Conkrite Karina L, Doepner Miriam, Rathi Komal S, Modi Apexa, Vaksman Zalman, Farra Lance M, Hyson Eric, Noureddine Moataz, Wei Jun S, Smith Malcolm A, Asgharzadeh Shahab, Seeger Robert C, Khan Javed, Auvil Jaime Guidry, Gerhard Daniela S, Maris John M, Diskin Sharon |
meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes. Clinical epigenetics 2020 Jul 12 (1): 99. Ciuculete Diana M, Voisin Sarah, Kular Lara, Jonsson Jörgen, Rask-Andersen Mathias, Mwinyi Jessica, Schiöth Helgi |
[Analysis of common genetic variants associated with neuro-synapse development among 60 family trios affected with sporadic autism spectrum disorders]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 1 37 (1): 1-4. Jiao Jian, Zhang Manxue, Yang Pingyuan, Huang Yan, Hu Xiao, Cai Jia, Yang Chan, Si-Tu Mingjing, Zhang Hui, Fu Lei, Guo Kuifang, Huang |
Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma. Scientific reports 2021 Jul 11 (1): 14814. Erkizan Hayriye Verda, Sukhadia Shrey, Natarajan Thanemozhi G, Marino Gustavo, Notario Vicente, Lichy Jack H, Wadleigh Robert |
Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in SHANK2 Gene. Frontiers in neuroscience 2021 5 15 649588. Ma Suk-Ling, Chen Lu Hua, Lee Chi-Chiu, Lai Kelly Y C, Hung Se-Fong, Tang Chun-Pan, Ho Ting-Pong, Shea Caroline, Mo Flora, Mak Timothy S H, Sham Pak-Chung, Leung Patrick W |
Disease patterns of coronary heart disease and type 2 diabetes harbored distinct and shared genetic architecture. Cardiovascular diabetology 2022 12 21 (1): 276. Xiao Han, Ma Yujia, Zhou Zechen, Li Xiaoyi, Ding Kexin, Wu Yiqun, Wu Tao, Chen Dafa |
Genetic Analysis Implicates Dysregulation of SHANK2 in Renal Cell Carcinoma Progression. International journal of environmental research and public health 2022 Sep 19 (19): . Chang Chi-Fen, Huang Shu-Pin, Hsueh Yu-Mei, Geng Jiun-Hung, Huang Chao-Yuan, Bao Bo-Yi |
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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- Page last updated:Apr 22, 2024
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