Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Epilepsy and MEF2C[original query] |
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Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human mutation 2010 Jun 31 (6): 722-33. Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani |
ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 2017 Dec . Myers Kenneth A, Nasioulas Steven, Boys Amber, McMahon Jacinta M, Slater Howard, Lockhart Paul, Sart Desirée du, Scheffer Ingrid |
Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation. BMC medical genetics 2018 11 19 (1): 191. Wang Jiaping, Zhang Qingping, Chen Yan, Yu Shujie, Wu Xiru, Bao Xinhua, Wen Yongx |
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 |
[Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 11 38 (11): 1127-1131. Xu Xin, Li Hongying, Zhang Li, Lu Fen, Tang Ji |
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