Molecular Genetic Screening of CCM Patients: An Overview
Author:
Publisher
Springer US
Link
http://link.springer.com/content/pdf/10.1007/978-1-0716-0640-7_4
Reference32 articles.
1. Labauge P, Denier C, Bergametti F et al (2007) Genetics of cavernous angiomas. Lancet Neurol 6:237–244
2. Rigamonti D, Hadley MN, Drayer BP et al (1988) Cerebral cavernous malformations. Incidence and familial occurrence. N Engl J Med 319:343–347
3. Labauge P, Laberge S, Brunereau L et al (1998) Hereditary cerebral cavernous angiomas: clinical and genetic features in 57 French families. Société Française de Neurochirurgie. Lancet 352:1892–1897
4. Laberge-le Couteulx S, Jung HH, Labauge P et al (1999) Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23:189–193
5. Liquori CL, Berg MJ, Siegel AM et al (2003) Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 73:1459–1464
Cited by 9 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. Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations;Journal of Stroke and Cerebrovascular Diseases;2024-11
2. Whole-Genome Omics Elucidates the Role of CCM1 and Progesterone in Cerebral Cavernous Malformations within CmPn Networks;Diagnostics;2024-08-28
3. Lectin-type oxidized LDL receptor-1 as a potential therapeutic target for cerebral cavernous malformations treatment;Frontiers in Neuroscience;2024-08-21
4. Giant cerebral cavernous malformation in a newborn: a rare case report and review of literature;Child's Nervous System;2024-04-12
5. Whole-genome Omics delineates the function of CCM1 within the CmPn networks;2023-07-11
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