胎儿神经病学中的分子遗传学

Molecular genetics in fetal neurology ( Review )
作者:Huang, J.a, Wah, I.Y.M.a, Pooh, R.K.b, Choy, K.W.a
机构: 香港中文大学威尔士亲王医院妇产科
期刊: SEMIN FETAL NEONAT M2012年11月6期17卷

Brain malformations, particularly related to early brain development, are a clinically and genetically heterogeneous group of fetal neurological disorders. Fetal cerebral malformation, predominantly of impaired prosencephalic development namely agenesis of the corpus callosum and septo-optic dysplasia, is the main pathological feature in fetus, and causes prominent neurodevelopmental retardation, and associated with congenital facial anomalies and visual disorders. Differential diagnosis of brain malformations can be extremely difficult even through magnetic resonance imaging. Advances in genomic and molecular genetics technologies have led to the identification of the sonic hedgehog pathways and genes critical to the normal brain development. Molecular cytogenetic and genetic studies have identified numeric and structural chromosomal abnormalities as well as mutations in genes important for the etiology of fetal neurological disorders. In this review, we update the molecular genetics findings of three common fetal neurological abnormalities, holoprosencephaly, lissencephaly and agenesis of the corpus callosum, in an attempt to assist in perinatal and prenatal diagnosis. © 2012 Elsevier Ltd.

Fetal Medicine Unit, Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales


通讯作者:Choy, K.W.; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong; email:richardchoy@cuhk.edu.hk
学科代码:儿科学   关键词:胎儿神经病学
来源: Scopus
Scopus介绍:Scopus 于2004年11月正式推出,是目前全球规模最大的文摘和引文数据库。Scopus涵盖了由5000多家出版商出版发行的科技、医学和社会科学方面的18,000多种期刊,其中同行评审期刊16,500多种。相对于其他单一的文摘索引数据库而言,Scopus的内容更加全面,学科更加广泛,特别是在获取欧洲及亚太地区的文献方面,用户可检索出更多的文献数量。通过Scopus,用户可以检索到1823年以来的近4000万条摘要和题录信息,以及1996年以来所引用的参考文献。数据每日更新。 马上访问Scopus网站http://www.scopus.com/
顶一下(0
您可能感兴趣的文章
    发表评论网友评论(0)
      发表评论
      登录后方可发表评论,点击此处登录