Molecular Genetics of the Fibrillinopathies
Author:
Publisher
Wiley
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/9780470015902.a0025314
Reference66 articles.
1. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele
2. MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
3. International nosology of heritable disorders of connective tissue, Berlin, 1986
4. Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy
5. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
Cited by 5 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. Cooperative Mechanism of ADAMTS/ ADAMTSL and Fibrillin-1 in the Marfan Syndrome and Acromelic Dysplasias;Frontiers in Genetics;2021-11-29
2. The Evolutionary Origin of Elastin: Is Fibrillin the Lost Ancestor?;Extracellular Matrix - Developments and Therapeutics;2021-10-27
3. Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD);Genetics in Medicine;2019-09
4. Association of modifiers and other genetic factors explain Marfan syndrome clinical variability;European Journal of Human Genetics;2018-08-07
5. The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes;Case Reports in Endocrinology;2018-07-03
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