• 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

Tuberous sclerosis.

作者信息

Syed Kaukab Naeem

机构信息

Department of Medicine, PIMS, Islamabad.

出版信息

J Pak Med Assoc. 2010 Aug;60(8):683-5.

PMID:20726205
Abstract

Tuberous sclerosis or Tuberous Sclerosis Complex (TSC) is a genetic disorder characterized by the growth of numerous benign tumours in many parts of the body caused by mutations on either of two genes, TSC1 and TSC2. The case of a 31 year old female who fulfilled 8 major criteria of Tuberous Sclerosis Complex is reported. Multiple research work projects are being carried out on this disease, unfolding the realities regarding its etiology as well as treatment. TSC patients, besides receiving symptomatic treatment should also be offered special schooling and regular follow up by expert physician.

摘要

相似文献

1
Tuberous sclerosis.
J Pak Med Assoc. 2010 Aug;60(8):683-5.
2
Identification of TSC1 and TSC2 mutations in Korean patients with tuberous sclerosis complex.鉴定韩国结节性硬化症患者 TSC1 和 TSC2 的突变。
Pediatr Neurol. 2012 Apr;46(4):222-4. doi: 10.1016/j.pediatrneurol.2012.02.002.
3
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.84例结节性硬化症患者的分子与临床分析
BMC Med Genet. 2006 Sep 18;7:72. doi: 10.1186/1471-2350-7-72.
4
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.通过TSC2变性梯度凝胶电泳（DGGE）、TSC1/TSC2多重连接探针扩增（MLPA）以及TSC1长片段PCR测序对65例结节性硬化症（TSC）患者进行分析，并报告28个新突变。
Hum Mutat. 2005 Oct;26(4):374-83. doi: 10.1002/humu.20227.
5
Tuberous sclerosis complex.结节性硬化症复合体
Pediatr Clin North Am. 2015 Jun;62(3):633-48. doi: 10.1016/j.pcl.2015.03.005. Epub 2015 Apr 11.
6
[Novel mutation in TSC2 gene in pediatric patient with clinical diagnosis of tuberous sclerosis].
Arch Argent Pediatr. 2017 Oct 1;115(5):e287-e290. doi: 10.5546/aap.2017.e287.
7
The analysis of mutations and exon deletions at TSC2 gene in angiomyolipomas associated with tuberous sclerosis complex.与结节性硬化症相关的肾血管平滑肌脂肪瘤中TSC2基因的突变和外显子缺失分析。
Exp Mol Pathol. 2014 Dec;97(3):440-4. doi: 10.1016/j.yexmp.2014.09.013. Epub 2014 Oct 1.
8
Tuberous sclerosis complex: advances in diagnosis, genetics, and management.结节性硬化症复合体：诊断、遗传学及管理方面的进展
J Am Acad Dermatol. 2007 Aug;57(2):189-202. doi: 10.1016/j.jaad.2007.05.004.
9
Quick genetic screening using targeted next-generation sequencing in patients with tuberous sclerosis.在结节性硬化症患者中使用靶向新一代测序进行快速基因筛查。
J Child Neurol. 2015 Apr;30(5):610-4. doi: 10.1177/0883073814531332. Epub 2014 Apr 30.
10
Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex.韩国结节性硬化症患者中TSC1和TSC2的突变分析。
Brain Dev. 2006 Aug;28(7):440-6. doi: 10.1016/j.braindev.2006.01.006. Epub 2006 Mar 22.