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神经发育障碍与基因检测:当前方法与未来进展

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

机构信息

Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.

出版信息

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950.

DOI:10.1002/ana.23950
PMID:23775934
Abstract

Genetic testing for intellectual disability, global developmental delay and other neurodevelopmental disorders has advanced considerably in the last five to ten years and can be an important diagnostic tool for clinicians. This article provides a clinical and ethical framework for understanding these advances, future directions and the current limitations of these approaches.

摘要

在过去的五到十年中,针对智力障碍、全球发育迟缓及其他神经发育障碍的基因检测取得了重大进展,可为临床医生提供重要的诊断工具。本文为理解这些进展、未来方向以及这些方法目前的局限性提供了临床和伦理框架。

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A Review of the Genomic Analysis of Children Presenting with Developmental Delay/Intellectual Disability and Associated Dysmorphic Features.对伴有发育迟缓/智力残疾及相关畸形特征儿童的基因组分析综述。
Cureus. 2019 Jan 12;11(1):e3873. doi: 10.7759/cureus.3873.
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Practices and views of neurologists regarding the use of whole-genome sequencing in clinical settings: a web-based survey.神经科医生在临床环境中使用全基因组测序的实践与观点:一项基于网络的调查。
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Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.不明原因的发育迟缓/学习障碍:一线评估及遗传/代谢/放射学检查的最佳实践方案指南
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