Angelman syndrome: advancing the research frontier of neurodevelopmental disorders [0.03%]
安格曼综合征：推进神经发育障碍研究前沿
Benjamin D Philpot,Coral E Thompson,Lisa Franco et al.
Benjamin D Philpot et al.
This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These cor...
Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample [0.03%]
CNTNAP2与非词重复及FOXP2与限时阅读和运动活动在中国学习障碍家系样本中的关联复制研究
Beate Peter,Wendy H Raskind,Mark Matsushita et al.
Beate Peter et al.
Two functionally related genes, FOXP2 and CNTNAP2, influence language abilities in families with rare syndromic and common nonsyndromic forms of impaired language, respectively. We investigated whether these genes are associated with compon...
Electrophysiological study of local/global processing in Williams syndrome [0.03%]
威廉斯综合征中局部处理和整体处理的电生理学研究
Alexandra P F Key,Elisabeth M Dykens
Alexandra P F Key
Persons with Williams syndrome (WS) demonstrate pronounced deficits in visuo-spatial processing. The purpose of the current study was to examine the preferred level of perceptual analysis in young adults with WS (n = 21) and the role of att...
Developmental malformation of the corpus callosum: a review of typical callosal development and examples of developmental disorders with callosal involvement [0.03%]
胼胝体发育不良：典型胼胝体发育与相关发育障碍的例子回顾
Lynn K Paul
Lynn K Paul
This review provides an overview of the involvement of the corpus callosum (CC) in a variety of developmental disorders that are currently defined exclusively by genetics, developmental insult, and/or behavior. I begin with a general review...
Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder [0.03%]
与自闭症谱系障碍多种表型领域有关的催产素受体(OXTR)基因变异体的相关性研究
Daniel B Campbell,Dibyadeep Datta,Shaine T Jones et al.
Daniel B Campbell et al.
Autism spectrum disorder (ASD) is characterized by core deficits in social behavior, communication, and behavioral flexibility. Several lines of evidence indicate that oxytocin, signaling through its receptor (OXTR), is important in a wide ...
Novel method for combined linkage and genome-wide association analysis finds evidence of distinct genetic architecture for two subtypes of autism [0.03%]
一种新的连锁和全基因组关联联合分析方法发现了自闭症的两种亚型具有不同的遗传结构的证据
Veronica J Vieland,Joachim Hallmayer,Yungui Huang et al.
Veronica J Vieland et al.
The Autism Genome Project has assembled two large datasets originally designed for linkage analysis and genome-wide association analysis, respectively: 1,069 multiplex families genotyped on the Affymetrix 10 K platform, and 1,129 autism tri...
Elizabeth Berry-Kravis,Andrew Knox,Crystal Hervey
Elizabeth Berry-Kravis
Fragile X syndrome (FXS) is the most common identifiable genetic cause of intellectual disability and autistic spectrum disorders (ASD), with up to 50% of males and some females with FXS meeting criteria for ASD. Autistic features are prese...
A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3 [0.03%]
一个患有自闭症和罕见拷贝数变异破坏杜氏肌营养不良基因DMD和TRPM3的家族
Alistair T Pagnamenta,Richard Holt,Mohammed Yusuf et al.
Alistair T Pagnamenta et al.
Autism spectrum disorder is a genetically complex and clinically heterogeneous neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M single-nucleotide polymorphism arrays to show that rare genic copy number ...
Glutathione pathway gene variation and risk of autism spectrum disorders [0.03%]
谷胱甘肽通路基因多态性与自闭症谱系障碍发病风险的关联研究
Katherine Bowers,Qing Li,Joseph Bressler et al.
Katherine Bowers et al.
Despite evidence that autism is highly heritable with estimates of 15 or more genes involved, few studies have directly examined associations of multiple gene interactions. Since inability to effectively combat oxidative stress has been sug...
Role of MeCP2, DNA methylation, and HDACs in regulating synapse function [0.03%]
MeCP2、DNA甲基化和HDACs在调控突触功能中的作用
Ege T Kavalali,Erika D Nelson,Lisa M Monteggia
Ege T Kavalali
Over the past several years there has been intense effort to delineate the role of epigenetic factors, including methyl-CpG-binding protein 2, histone deacetylases, and DNA methyltransferases, in synaptic function. Studies from our group as...