• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.

作者信息

Noor Abdul, Gianakopoulos Peter J, Fernandez Bridget, Marshall Christian R, Szatmari Peter, Roberts Wendy, Scherer Stephen W, Vincent John B

出版信息

Psychiatr Genet. 2009 Jun;19(3):154-5. doi: 10.1097/YPG.0b013e32832a4fe5.

DOI:10.1097/YPG.0b013e32832a4fe5
PMID:19339915
Abstract
摘要

相似文献

1
Copy number variation analysis and sequencing of the X-linked mental retardation gene TSPAN7/TM4SF2 in patients with autism spectrum disorder.
Psychiatr Genet. 2009 Jun;19(3):154-5. doi: 10.1097/YPG.0b013e32832a4fe5.
2
Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?TM4SF2基因上的P172H突变会导致X连锁智力障碍吗？
Am J Med Genet A. 2004 Feb 1;124A(4):413-5. doi: 10.1002/ajmg.a.20401.
3
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.X连锁智力迟钝和自闭症与神经连接蛋白家族成员NLGN4基因的突变有关。
Am J Hum Genet. 2004 Mar;74(3):552-7. doi: 10.1086/382137. Epub 2004 Feb 12.
4
Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients.男性和女性中 KIAA2022/NEXMIF 致病性变异的临床谱：来自印度家系的 3 例患者的报告，并对已发表的患者进行了回顾。
Brain Dev. 2020 Oct;42(9):646-654. doi: 10.1016/j.braindev.2020.06.005. Epub 2020 Jun 27.
5
[X-linked mental retardation combined with autism caused by a novel hemizygous mutation of GRIA3 gene].[由GRIA3基因新的半合子突变引起的X连锁智力障碍合并自闭症]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Aug 10;36(8):829-833. doi: 10.3760/cma.j.issn.1003-9406.2019.08.019.
6
High-resolution genomic microarrays for X-linked mental retardation.用于X连锁智力障碍的高分辨率基因组微阵列
Genet Med. 2007 Sep;9(9):560-5. doi: 10.1097/gim.0b013e318149e647.
7
Monkey model of MECP2 duplication syndrome aids autism research: Monkeys genetically altered with extra copies of MECP2 are being used as a model for research into autism and MECP2 duplication syndrome.MECP2重复综合征的猴子模型助力自闭症研究：携带额外拷贝MECP2基因改变的猴子正被用作自闭症和MECP2重复综合征研究的模型。
Am J Med Genet A. 2016 May;170A(5):1112-3. doi: 10.1002/ajmg.a.37646.
8
The role of neuronal complexes in human X-linked brain diseases.神经元复合体在人类X连锁脑疾病中的作用。
Am J Hum Genet. 2007 Feb;80(2):205-20. doi: 10.1086/511441. Epub 2007 Jan 9.
9
[X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion].[由于Xp22.31微缺失导致的与癫痫、多动、自闭症和智力迟钝相关的X染色体连锁鱼鳞病]
Rev Neurol. 2012 Feb 16;54(4):241-8.
10
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints.与自闭症和智力迟钝相关的t(6;7)(p11-p12;q22)易位：断点处候选基因的定位与鉴定
Psychiatr Genet. 2008 Jun;18(3):101-9. doi: 10.1097/YPG.0b013e3282f97df7.

引用本文的文献

1
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.神经发育障碍患者X染色体上拷贝数变异的患病率。
Mol Cytogenet. 2025 Feb 21;18(1):3. doi: 10.1186/s13039-025-00703-w.
2
Integrin β1/FAK/SRC signal pathway is involved in autism spectrum disorder in knockout rats.整合素 β1/黏着斑激酶/Src 信号通路参与了敲除大鼠自闭症谱系障碍的发生。
Life Sci Alliance. 2022 Dec 20;6(3). doi: 10.26508/lsa.202201616. Print 2023 Mar.
3
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
通过对奥地利家庭进行拷贝数变异分析来鉴定自闭症谱系障碍的风险基因。
Neurogenetics. 2014 May;15(2):117-27. doi: 10.1007/s10048-014-0394-0. Epub 2014 Mar 19.
4
A genome-wide study of de novo deletions identifies a candidate locus for non-syndromic isolated cleft lip/palate risk.全基因组范围内的新发缺失研究确定了非综合征性孤立性唇腭裂风险的候选基因座。
BMC Genet. 2014 Feb 14;15:24. doi: 10.1186/1471-2156-15-24.
5
Contiguous Xp11.4 Gene Deletion Leading to Ornithine Transcarbamylase Deficiency Detected by High-density Single-nucleotide Array.
Clin Pediatr Endocrinol. 2010 Apr;19(2):25-30. doi: 10.1297/cpe.19.25. Epub 2010 May 22.
6
Searching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.寻找非综合征性X连锁智力障碍中的拷贝数变化。
Mol Syndromol. 2012 Jan;2(2):64-71. doi: 10.1159/000334289. Epub 2011 Nov 22.
7
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.基于人群的克罗地亚自闭症谱系障碍个体遗传变异研究。
BMC Med Genet. 2010 Sep 21;11:134. doi: 10.1186/1471-2350-11-134.