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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2023. (Total: 223870Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Intellectual Disability and SHANK3[original query]
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 variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.
European journal of medical genetics 2016 Aug .
Breckpot Jeroen, Vercruyssen Marieke, Weyts Eddy, Vandevoort Sean, D'Haenens Greet, Van Buggenhout Griet, Leempoels Lore, Brischoux-Boucher Elise, Van Maldergem Lionel, Renieri Alessandra, Mencarelli Maria Antonietta, D'Angelo Carla, Mericq Veronica, Hoffer Mariette J, Tauber Maithé, Castiglioni Claudia, Brison Nathalie, Vermeesch Joris R, Danckaerts Marina, Sienaert Pascal, Devriendt Koenraad, Vogels Anni
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
Frontiers in genetics 2018 9 594.
Du Xiujuan, Gao Xueren, Liu Xin, Shen Lixiao, Wang Kai, Fan Yanjie, Sun Yu, Luo Xiaomei, Liu Huili, Wang Lili, Wang Yu, Gong Zhuwen, Wang Jianguo, Yu Yongguo, Li F
Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.
American journal of medical genetics. Part A 2018 12 176 (12): 2668-2676.
Li Ying, Jia Xiangbin, Wu Huidan, Xun Guanglei, Ou Jianjun, Zhang Qiumeng, Li Honghui, Bai Ting, Hu Zhengmao, Zou Xiaobing, Xia Kun, Guo H
A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.
Orphanet journal of rare diseases 2020 12 15 (1): 335.
Xu Na, Lv Hui, Yang Tingting, Du Xiujuan, Sun Yu, Xiao Bing, Fan Yanjie, Luo Xiaomei, Zhan Yongkun, Wang Lili, Li Fei, Yu Yongg
Two Genetic Mechanisms in Two Siblings with Intellectual Disability, Autism Spectrum Disorder, and Psychosis.
Journal of personalized medicine 2022 6 12 (6): .
Huang Yu-Shu, Fang Ting-Hsuan, Kung Belle, Chen Chia-Hsia
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