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本文引用的文献

1
Mapping genomic loci implicates genes and synaptic biology in schizophrenia.基因组定位研究提示精神分裂症的发病与基因及突触生物学有关。
Nature. 2022 Apr;604(7906):502-508. doi: 10.1038/s41586-022-04434-5. Epub 2022 Apr 8.
2
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes.遗传、转录组和临床数据的整合为 16p11.2 和 22q11.2 CNV 基因提供了深入了解。
Genome Med. 2021 Oct 29;13(1):172. doi: 10.1186/s13073-021-00972-1.
3
Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.罕见拷贝数变异与常见单核苷酸多态性对精神分裂症风险的共同贡献。
Am J Psychiatry. 2019 Jan 1;176(1):29-35. doi: 10.1176/appi.ajp.2018.17040467. Epub 2018 Nov 5.
4
Genetics of Schizophrenia: Overview of Methods, Findings and Limitations.精神分裂症的遗传学：方法、研究结果及局限性概述
Front Hum Neurosci. 2017 Jun 22;11:322. doi: 10.3389/fnhum.2017.00322. eCollection 2017.
5
The Database of Genomic Variants: a curated collection of structural variation in the human genome.基因组变异数据库：人类基因组中结构变异的精心整理集合。
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. doi: 10.1093/nar/gkt958. Epub 2013 Oct 29.
6
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.16p12.1 微缺失的反复出现支持严重发育迟缓的双打击模型。
Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534. Epub 2010 Feb 14.
7
The role of DNA copy number variation in schizophrenia.DNA 拷贝数变异在精神分裂症中的作用。
Biol Psychiatry. 2009 Dec 1;66(11):1005-12. doi: 10.1016/j.biopsych.2009.07.027. Epub 2009 Sep 12.
8
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.16p11.2 - p12.2新微缺失综合征的进一步特征分析
Am J Med Genet A. 2009 Jun;149A(6):1200-4. doi: 10.1002/ajmg.a.32847.
9
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.DECIPHER：利用Ensembl资源构建的人类染色体失衡与表型数据库。
Am J Hum Genet. 2009 Apr;84(4):524-33. doi: 10.1016/j.ajhg.2009.03.010. Epub 2009 Apr 2.
10
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.发现一种先前未被识别的16p11.2 - p12.2微缺失综合征。
Nat Genet. 2007 Sep;39(9):1071-3. doi: 10.1038/ng2107. Epub 2007 Aug 19.

Schizophrenia in the Context of Neurodevelopmental Disorders in 16p12.2 Chromosomal Deletion: A Case Report.

作者信息

Uppinkudru Chithra, Basavaraju Rakshathi, Udupi Gautham Arunachal, Mehta Urvakhsh Meherwan

机构信息

Dept. of Psychiatry, NIMHANS, Bengaluru, Karnataka, India.

Dept. of Human Genetics, NIMHANS, Bengaluru, Karnataka, India.

出版信息

Indian J Psychol Med. 2024 May;46(3):283-284. doi: 10.1177/02537176231222570. Epub 2024 Jan 24.

DOI:10.1177/02537176231222570
PMID:38699775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11062308/
Abstract
摘要