• 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

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.

作者信息

Jolley Alexandra, Corbett Mark, McGregor Lesley, Waters Wendy, Brown Susan, Nicholl Jillian, Yu Sui

机构信息

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, and School of Paediatrics and Reproductive Health, The University of Adelaide, North Adelaide, South Australia, Australia.

出版信息

Am J Med Genet A. 2013 Jun;161A(6):1508-12. doi: 10.1002/ajmg.a.35922. Epub 2013 May 6.

DOI:10.1002/ajmg.a.35922
PMID:23650183
Abstract
摘要

相似文献

1
De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.一名发育迟缓患者中自闭症易感性候选基因2（AUTS2）的新生基因内缺失：病例报告及文献综述
Am J Med Genet A. 2013 Jun;161A(6):1508-12. doi: 10.1002/ajmg.a.35922. Epub 2013 May 6.
2
De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.一名患有自闭症谱系障碍和发育迟缓患者的AUTS2基因从头外显子1缺失：病例报告及文献综述
Am J Med Genet A. 2015 Jun;167(6):1381-5. doi: 10.1002/ajmg.a.37050. Epub 2015 Apr 6.
3
The role of new genetic technology in investigating autism and developmental delay.新基因技术在自闭症和发育迟缓研究中的作用。
Med Health R I. 2011 May;94(5):131, 134-7.
4
De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.一名患有言语和语言障碍患者中AUTS2基因的新生单外显子缺失：对AUTS2基因功能破坏的综述及该基因在神经发育障碍中作用的进一步证据
Am J Med Genet A. 2014 Apr;164A(4):958-65. doi: 10.1002/ajmg.a.36393. Epub 2014 Jan 23.
5
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.采用阵列比较基因组杂交技术检测一名具有自闭症特征和发育迟缓的女童2号染色体2q24.2至q24.3区域新发的2.8 Mb缺失。
Eur J Med Genet. 2010 Jul-Aug;53(4):217-20. doi: 10.1016/j.ejmg.2010.03.006. Epub 2010 Mar 24.
6
Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.中国发育迟缓与智力残疾患者中AUTS2基因的外显子缺失
Am J Med Genet A. 2016 Feb;170A(2):515-522. doi: 10.1002/ajmg.a.37454. Epub 2015 Nov 6.
7
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).缺失大小与重要表型之间的关联扩大了 Phelan-McDermid 综合征（22q13 缺失综合征）的感兴趣基因组区域。
J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.
8
A de novo Pericentric Inversion in Chromosome 4 Associated with Disruption of PITX2 and a Microdeletion in 4p15.2 in a Patient with Axenfeld-Rieger Syndrome and Developmental Delay.一名患有Axenfeld-Rieger综合征和发育迟缓的患者，其4号染色体发生了与PITX2破坏相关的新发臂间倒位以及4p15.2区域的微缺失。
Cytogenet Genome Res. 2017;151(1):5-9. doi: 10.1159/000456695. Epub 2017 Feb 23.
9
Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH.通过荧光原位杂交（FISH）检测出患有自闭症综合征且存在22q13.3染色体缺失的病例。
Am J Med Genet. 2000 Dec 4;96(6):839-44.
10
A de novo 7.9 Mb deletion in 22q13.2→qter in a boy with autistic features, epilepsy, developmental delay, atopic dermatitis and abnormal immunological findings.一名患有自闭症特征、癫痫、发育迟缓、特应性皮炎和免疫异常的男孩，其22号染色体长臂13.2区至末端存在一个7.9兆碱基的新发缺失。
Eur J Med Genet. 2010 Sep-Oct;53(5):329-32. doi: 10.1016/j.ejmg.2010.06.004. Epub 2010 Jun 9.

引用本文的文献

1
Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.AUTS2 HX重复结构域相关表型的进一步描述。
Am J Med Genet A. 2025 May 3:e64093. doi: 10.1002/ajmg.a.64093.
2
CRS: a circadian rhythm score model for predicting prognosis and treatment response in cancer patients.CRS：一种用于预测癌症患者预后和治疗反应的生物钟节律评分模型。
J Transl Med. 2023 Mar 9;21(1):185. doi: 10.1186/s12967-023-04013-w.
3
Activity-Dependent Differential Regulation of Auts2 Isoforms In Vitro and In Vivo.体外和体内活性依赖的 Auts2 异构体的差异调节。
Mol Neurobiol. 2023 Jun;60(6):2973-2985. doi: 10.1007/s12035-023-03241-x. Epub 2023 Feb 9.
4
RINGs, DUBs and Abnormal Brain Growth-Histone H2A Ubiquitination in Brain Development and Disease.RING结构域蛋白、去泛素化酶与脑发育异常——脑发育与疾病中的组蛋白H2A泛素化
Epigenomes. 2022 Dec 2;6(4):42. doi: 10.3390/epigenomes6040042.
5
Features and Expression Are Highly Conserved during Evolution Despite Different Evolutionary Fates Following Whole Genome Duplication.尽管经历了全基因组复制后的不同进化命运，但特征和表达在进化过程中高度保守。
Cells. 2022 Aug 30;11(17):2694. doi: 10.3390/cells11172694.
6
deletion involves in DG hypoplasia and social recognition deficit: The developmental and neural circuit mechanisms.缺失涉及齿状回发育不全和社会认知缺陷：发育和神经回路机制。
Sci Adv. 2022 Mar 4;8(9):eabk1238. doi: 10.1126/sciadv.abk1238. Epub 2022 Mar 2.
7
Gene: Keys to Understanding the Pathogenesis of Neurodevelopmental Disorders.基因：神经发育障碍发病机制研究的关键。
Cells. 2021 Dec 21;11(1):11. doi: 10.3390/cells11010011.
8
Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in to AUTS2 Syndrome.将由[具体基因]致病变体引起的一种新型畸形综合征与AUTS2综合征进行比较。 （你提供的原文中“in”后面缺少具体基因信息）
Front Cell Dev Biol. 2021 Nov 5;9:779009. doi: 10.3389/fcell.2021.779009. eCollection 2021.
9
Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.注意力缺陷多动障碍和自闭症谱系障碍作为 AUTS2 综合征的核心症状：五例新患者的描述及临床表现和基因型-表型相关性的频率更新。
Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360.
10
Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review.AUTS2 移码变体致钟情妄想和表型连续谱：病例报告并文献复习。
BMC Psychiatry. 2021 Jul 17;21(1):360. doi: 10.1186/s12888-021-03342-8.