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浏览/检索结果: 共8条，第1-8条 帮助 限定条件 专题：北京大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation 期刊论文 MOLECULAR AUTISM, 2017 Wen, Zhu; Cheng, Tian-Lin; Li, Gai-Zhi; Sun, Shi-Bang; Yu, Shun-Ying; Zhang, Yi; Du, Ya-Song; Qiu, Zilong 收藏  |  浏览/下载：117/0  |  提交时间：2017/12/03 Autism spectrum disorder  Methyl-CpG-binding protein-2 (MeCP2)  Whole-exome sequencing  Neural development  CPG-BINDING PROTEIN-2  RETT-SYNDROME  DENDRITIC GROWTH  GENE  MICE  TRANSCRIPTION  MATURATION  DISORDER   Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation 期刊论文 BMC MEDICAL GENETICS, 2017 Zhang, Qingping; Wang, Jiaping; Li, Jiarui; Bao, Xinhua; Zhao, Ying; Zhang, Xiaoying; Wei, Liping; Wu, Xiru 收藏  |  浏览/下载：7/0  |  提交时间：2017/12/03 FOXG1  RTT  RTT-like MR  Epilepsy  Hypoplasia of corpus callosum  VARIANT  MOSAICISM  DISORDER  CRITERIA  EPILEPSY  MECP2   Familial cases and male cases with MECP2 mutations 期刊论文 AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2017 Zhang, Qingping; Zhao, Ying; Bao, Xinhua; Luo, Jinjun; Zhang, Xiaoying; Li, Jiarui; Wei, Liping; Wu, Xiru 收藏  |  浏览/下载：10/0  |  提交时间：2017/12/03 clinical manifestations  pathogenic gene spectrum  phenotypic heterogeneity  Rett syndrome  X-linked mental retardation  LINKED MENTAL-RETARDATION  RETT-SYNDROME  HOT-SPOT  PHENOTYPE  GENE  ENCEPHALOPATHY  INACTIVATION  METHYLATION  DYSFUNCTION  SPASTICITY   Dendritic spine pathology in autism: lessons learned from mouse models 期刊论文 转化神经科学电子杂志（英文）, 2016 Qiangge Zhang; Dingxi Zhou; Guoping Feng 收藏  |  浏览/下载：12/0  |  提交时间：2017/12/03 synapse dendritic spine autism FMR1 MECP2 SHANK3 animal model  synapse  dendritic spine  autism  FMR1  MECP2  SHANK3  animal model   Mecp2 regulates neural cell differentiation by suppressing the Id1-Her2/Hes5 axis in zebrafish 期刊论文 journal of cell science, 2015 Gao Hai; Bu Ye; Wu Qing; Wang Xu; Chang Nannan; Lei Lei; Chen Shilin; Liu Dong; Zhu Xiaojun; Hu Keping; Xiong Jing-Wei 收藏  |  浏览/下载：3/0  |  提交时间：2015/11/13 Generation of a monkey with MECP2 mutations by TALEN-based gene targeting 期刊论文 神经科学通报, 2014 Liu, Zhen; Zhou, Xue; Zhu, Ying; Chen, Zhi-Fang; Yu, Bin; Wang, Yan; Zhang, Chen-Chen; Nie, Yan-Hong; Sang, Xiao; Cai, Yi-Jun; Zhang, Yue-Fang; Zhang, Chen; Zhou, Wen-Hao; Sun, Qiang; Qiu, Zilong 收藏  |  浏览/下载：2/0  |  提交时间：2015/11/11 monkey  TALEN  MeCP2  Rett syndrome  CPG-BINDING PROTEIN-2  ONE-STEP GENERATION  CYNOMOLGUS MONKEY  RETT-SYNDROME  MICE  CHROMATIN  MOUSE   Genomic distribution and possible functions of DNA hydroxymethylation in the brain 期刊论文 genomics, 2014 Wen, Lu; Tang, Fuchou 收藏  |  浏览/下载：2/0  |  提交时间：2015/11/10 5-Hydroxymethylcytosine  TET  DNA methylation  Active DNA demethylation  Brain  MeCP2  EMBRYONIC STEM-CELLS  MEMORY FORMATION  NEUROLOGICAL DISEASE  BASE-RESOLUTION  BINDING DOMAIN  WIDE ANALYSIS  TET PROTEINS  GENE BODIES  ADULT BRAIN  5-HYDROXYMETHYLCYTOSINE   Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients 期刊论文 bmc medical genetics, 2014 Zhao, Ying; Zhang, Xiaoying; Bao, Xinhua; Zhang, Qingping; Zhang, Jingjing; Cao, Guangna; Zhang, Jie; Li, Jiarui; Wei, Liping; Pan, Hong; Wu, Xiru 收藏  |  浏览/下载：9/0  |  提交时间：2015/11/10 CDKL5 mutations  Early-onset epileptic encephalopathy  X chromosome inactivation  ONSET INTRACTABLE EPILEPSY  X-CHROMOSOME INACTIVATION  CDKL5 MUTATIONS  RETT-SYNDROME  INFANTILE SPASMS  MENTAL-RETARDATION  SEVERE ENCEPHALOPATHY  FEMALE-PATIENTS  BOYS  SEIZURES