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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 12 (of 12 Records)

Query Trace: Intellectual Disability and MECP2[original query]
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.
Journal of medical genetics 2010 Mar 47 (3): 211-6.
Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Autism research : official journal of the International Society for Autism Research 2012 Dec 5 (6): 385-97.
Cukier Holly N, Lee Joycelyn M, Ma Deqiong, Young Juan I, Mayo Vera, Butler Brittany L, Ramsook Sandhya S, Rantus Joseph A, Abrams Alexander J, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Haines Jonathan L, Cuccaro Michael L, Pericak-Vance Margaret A, Gilbert John
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Human mutation 2015 Sep .
Grozeva Detelina, Carss Keren, Spasic-Boskovic Olivera, Tejada Maria-Isabel, Gecz Jozef, Shaw Marie, Corbett Mark, Haan Eric, Thompson Elizabeth, Friend Kathryn, Hussain Zaamin, Hackett Anna, Field Michael, Renieri Alessandra, Stevenson Roger, Schwartz Charles, Floyd James A B, Bentham Jamie, Cosgrove Catherine, Keavney Bernard, Bhattacharya Shoumo, , , , Hurles Matthew, Raymond F Lu
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25.
Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur
MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Journal of human genetics 2016 Mar .
Zahorakova Daniela, Lelkova Petra, Gregor Vladimir, Magner Martin, Zeman Jiri, Martasek Pav
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children.
Frontiers in neurology 2019 10 505.
Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
BMC medical genetics 2019 5 20 (1): 80.
Yan Huifang, Shi Zhen, Wu Ye, Xiao Jiangxi, Gu Qiang, Yang Yanling, Li Ming, Gao Kai, Chen Yinyin, Yang Xiaoping, Ji Haoran, Cao Binbin, Duan Ruoyu, Jiang Yuwu, Wang Jingm
MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort.
Clinical genetics 2020 5 98 (3): 240-250.
Wen Yongxin, Wang Jiaping, Zhang Qingping, Chen Yan, Wu Xiru, Bao Xinh
Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia.
Frontiers in genetics 2020 5 11 476.
Chen Chia-Hsiang, Cheng Min-Chih, Huang Ailing, Hu Tsung-Ming, Ping Lieh-Yung, Chang Yu-Syu
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis.
BMC medical genetics 2020 5 21 (1): 99.
Gu Yi, Xiang Bingwu, Zhu Lina, Ma Xiuwei, Chen Xiang, Cai T
Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability.
Epilepsy research 2021 1 170 106552.
Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli
[Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 648-654.
Yangyan Li, Dongzhu Lei, Caiyun Li, Dongqun Huang, Jufang Tan, Haoqing Zha
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