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Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder.

作者信息

Newbury Dianne F, Mari Francesca, Sadighi Akha Elham, Macdermot Kay D, Canitano Roberto, Monaco Anthony P, Taylor Jenny C, Renieri Alessandra, Fisher Simon E, Knight Samantha J L

出版信息

Eur J Hum Genet. 2013 Apr;21(4):361-5. doi: 10.1038/ejhg.2012.166. Epub 2012 Aug 22.

DOI:10.1038/ejhg.2012.166
PMID:22909776
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3598310/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8ff/3598310/5db24c09c7bf/ejhg2012166f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8ff/3598310/5db24c09c7bf/ejhg2012166f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8ff/3598310/5db24c09c7bf/ejhg2012166f1.jpg

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本文引用的文献

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Eur J Hum Genet. 2013 Apr;21(4):455-9. doi: 10.1038/ejhg.2012.165. Epub 2012 Aug 22.
2
Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.钙释放复合物蛋白三联蛋白的缺失是导致人类心律失常和心源性猝死的原因。
Hum Mol Genet. 2012 Jun 15;21(12):2759-67. doi: 10.1093/hmg/dds104. Epub 2012 Mar 14.
3
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
儿童言语失用症及共病神经发育障碍患儿的差异与共性：多维度视角
J Pers Med. 2022 Feb 19;12(2):313. doi: 10.3390/jpm12020313.
4
Genome-Wide Association Study of Motor Coordination.运动协调的全基因组关联研究
Front Hum Neurosci. 2021 Jun 9;15:669902. doi: 10.3389/fnhum.2021.669902. eCollection 2021.
5
Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis.第一阶段注册报告：性染色体三体综合征患儿神经发育结局的差异：双打击假说检验方案
Wellcome Open Res. 2018 Feb 12;3:10. doi: 10.12688/wellcomeopenres.13828.2. eCollection 2018.
6
Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.16p11.2 缺失个体的言语和语言技能的深度表型分析。
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7
Investigating the effects of copy number variants on reading and language performance.研究拷贝数变异对阅读和语言能力的影响。
J Neurodev Disord. 2016 May 15;8:17. doi: 10.1186/s11689-016-9147-8. eCollection 2016.
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Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.两个患有儿童言语失用症的多代家庭中的遗传候选变异体。
PLoS One. 2016 Apr 27;11(4):e0153864. doi: 10.1371/journal.pone.0153864. eCollection 2016.
9
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.多种反复出现的新生拷贝数变异，包括 7q11.23 威廉姆斯综合征区域的重复，与自闭症强烈相关。
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