Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference22 articles.
1. Two novel gross deletions of TSC2 in Malaysian patients with tuberous sclerosis complex and TSC2/PKD1 contiguous deletion syndrome;Ismail;Jpn J Clin Oncol,2014
2. The tuberous sclerosis complex;Orlova;Ann NY Acad Sci,2010
3. Epidemiology of tuberous sclerosis;Osborne;Ann NY Acad Sci,1991
4. The relationship of neuroimaging findings and neuropsychiatric comorbidities in children with tuberous sclerosis complex;Huang;J Formos Med Assoc,2015
5. Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis;Jones;Hum Mol Genet,1997
Cited by 7 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Novel Stop-Gain TSC2 Gene Mutation in an Indian Child of Tuberous Sclerosis Complex;Indian Dermatology Online Journal;2024-05-20
2. Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene;International Journal of General Medicine;2022-05
3. Diagnostic features of tuberous sclerosis complex: case report and literature review;Quantitative Imaging in Medicine and Surgery;2022-01
4. A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review;Diagnostic Pathology;2021-08-31
5. Attacking the PI3K/Akt/mTOR signaling pathway for targeted therapeutic treatment in human cancer;Seminars in Cancer Biology;2021-06
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3