Copy number variation: what is it and what has it told us about child psychiatric disorders?
作者信息
Thapar Anita, Cooper Miriam
机构信息
Institute of Psychological Medicine and Clinical Neurosciences and the Medical Research Council, Centre for Neuropsychiatric Genetics and Genomics at Cardiff University School of Medicine.
出版信息
J Am Acad Child Adolesc Psychiatry. 2013 Aug;52(8):772-4. doi: 10.1016/j.jaac.2013.05.013.
Abstract
摘要
相似文献
1
Copy number variation: what is it and what has it told us about child psychiatric disorders?拷贝数变异：它是什么，以及它告诉了我们哪些关于儿童精神疾病的信息？
J Am Acad Child Adolesc Psychiatry. 2013 Aug;52(8):772-4. doi: 10.1016/j.jaac.2013.05.013.
2
Increasing the Clinical Psychiatric Knowledge Base About Pathogenic Copy Number Variation.增加关于致病性拷贝数变异的临床精神病学知识库。
Am J Psychiatry. 2020 Mar 1;177(3):204-209. doi: 10.1176/appi.ajp.2019.19040335.
3
Copy Number Variation in Syndromic Forms of Psychiatric Illness: The Emerging Value of Clinical Genetic Testing in Psychiatry.精神疾病综合征形式中的拷贝数变异：临床基因检测在精神病学中的新兴价值。
Am J Psychiatry. 2017 Nov 1;174(11):1036-1050. doi: 10.1176/appi.ajp.2017.16080946.
4
Polygenic heterogeneity: a complex model of genetic inheritance in psychiatric disorders.多基因异质性：精神疾病遗传的复杂模型
Biol Psychiatry. 2010 Aug 15;68(4):312-3. doi: 10.1016/j.biopsych.2010.06.020.
5
Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.比较丹麦精神病患者病例队列中的拷贝数变异。
JAMA Psychiatry. 2022 Jan 1;79(1):59-69. doi: 10.1001/jamapsychiatry.2021.3392.
6
Cognitive phenotypes and genomic copy number variations.认知表型与基因组拷贝数变异
JAMA. 2015 May 26;313(20):2029-30. doi: 10.1001/jama.2015.4846.
7
Copy number variants: a new molecular frontier in clinical psychiatry.拷贝数变异：临床精神病学的新分子前沿。
Curr Psychiatry Rep. 2011 Apr;13(2):129-37. doi: 10.1007/s11920-011-0183-5.
8
Genomic structural variation in psychiatric disorders.精神障碍的基因组结构变异。
Dev Psychopathol. 2012 Nov;24(4):1335-44. doi: 10.1017/S0954579412000740.
9
Copy number variation-based gene set analysis reveals cytokine signalling pathways associated with psychiatric comorbidity in patients with inflammatory bowel disease.基于拷贝数变异的基因集分析揭示了炎症性肠病患者伴发精神共病相关的细胞因子信号通路。
Genomics. 2020 Jan;112(1):683-693. doi: 10.1016/j.ygeno.2019.05.001. Epub 2019 May 7.
10
Copy number variation and psychiatric disease risk.拷贝数变异与精神疾病风险。
Methods Mol Biol. 2012;838:97-113. doi: 10.1007/978-1-61779-507-7_4.
引用本文的文献
1
Copy number variations in autistic children.自闭症儿童的拷贝数变异
Biomed Rep. 2024 Jun 3;21(1):107. doi: 10.3892/br.2024.1795. eCollection 2024 Jul.
2
Diversity and Classification of Genetic Variations in Autism Spectrum Disorder.自闭症谱系障碍中遗传变异的多样性和分类。
Int J Mol Sci. 2023 Nov 26;24(23):16768. doi: 10.3390/ijms242316768.
3
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia.一组荷兰小脑共济失调患者中脊髓小脑共济失调基因的拷贝数变异分析
Neurol Genet. 2023 Feb 2;9(1):e200050. doi: 10.1212/NXG.0000000000200050. eCollection 2023 Feb.
4
Association Study between DUF1220 Copy Number and Severity of Social Impairment in Sex-balanced Simplex Cases of Autism.在自闭症性别平衡单纯病例中，DUF1220拷贝数与社会功能障碍严重程度之间的关联研究。
Noro Psikiyatr Ars. 2022 Jul 5;60(1):43-48. doi: 10.29399/npa.28020. eCollection 2023.
5
Copy Number Variations and Schizophrenia.拷贝数变异与精神分裂症。
Mol Neurobiol. 2023 Apr;60(4):1854-1864. doi: 10.1007/s12035-022-03185-8. Epub 2022 Dec 29.
6
Multiclass Cancer Prediction Based on Copy Number Variation Using Deep Learning.基于深度学习的拷贝数变异的多癌症预测。
Comput Intell Neurosci. 2022 Jun 9;2022:4742986. doi: 10.1155/2022/4742986. eCollection 2022.
7
Application of Droplet Digital PCR Technology in Muscular Dystrophies Research.液滴数字 PCR 技术在肌肉疾病研究中的应用。
Int J Mol Sci. 2022 Apr 27;23(9):4802. doi: 10.3390/ijms23094802.
8
Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.揭示特发性震颤的遗传学：长读长测序的前景
Front Neurol. 2022 Mar 23;13:821189. doi: 10.3389/fneur.2022.821189. eCollection 2022.
9
High Olfactory Receptor-Rich 11q11 Copy Number in Girls and African American Children.高嗅觉受体丰富 11q11 拷贝数在女孩和非裔美国儿童中。
Genes (Basel). 2021 Nov 30;12(12):1943. doi: 10.3390/genes12121943.
10
Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4-BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature.16p11.2（BP4-BP5）区域罕见致病性拷贝数变异与神经发育和神经精神障碍相关：文献综述。
Int J Environ Res Public Health. 2020 Dec 10;17(24):9253. doi: 10.3390/ijerph17249253.
本文引用的文献
1
Genetic architectures of psychiatric disorders: the emerging picture and its implications.精神障碍的遗传结构：新兴的图景及其影响。
Nat Rev Genet. 2012 Jul 10;13(8):537-51. doi: 10.1038/nrg3240.
2
Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.全基因组分析注意力缺陷多动障碍中的拷贝数变异：15q13.3 处稀有变异和重复的作用。
Am J Psychiatry. 2012 Feb;169(2):195-204. doi: 10.1176/appi.ajp.2011.11060822.
3
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.大的 CNVs 对一系列神经发育表型的相对负担。
PLoS Genet. 2011 Nov;7(11):e1002334. doi: 10.1371/journal.pgen.1002334. Epub 2011 Nov 10.
4
A copy number variation morbidity map of developmental delay.发育迟缓的拷贝数变异发病率图。
Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909.
5
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis.注意缺陷多动障碍中的罕见染色体缺失和重复：全基因组分析。
Lancet. 2010 Oct 23;376(9750):1401-8. doi: 10.1016/S0140-6736(10)61109-9. Epub 2010 Sep 29.
Zotero 插件