Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Application of the 2017 criteria for vascular Ehlers‐Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Published:2019-11-03 Issue:2 Volume:97 Page:287-295
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ritelli Marco¹^ORCID,Rovati Chiara²,Venturini Marina²^ORCID,Chiarelli Nicola¹^ORCID,Cinquina Valeria¹,Castori Marco³^ORCID,Colombi Marina¹^ORCID

Affiliation:

1. Division of Biology and Genetics, Department of Molecular and Translational MedicineUniversity of Brescia Brescia Italy

2. Division of Dermatology, Department of Clinical and Experimental SciencesSpedali Civili University Hospital of Brescia Brescia Italy

3. Division of Medical Genetics, Fondazione IRCCS‐Casa Sollievo della SofferenzaSan Giovanni Rotondo Foggia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13653

Reference19 articles.

1. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome

2. Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV)

3. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

4. Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

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. Current Evidence and Future Perspectives in the Medical Management of Vascular Ehlers–Danlos Syndrome: Focus on Vascular Prevention;Journal of Clinical Medicine;2024-07-21

2. Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients;Circulation: Genomic and Precision Medicine;2024-06

3. Deciphering disease signatures and molecular targets in vascular Ehlers-Danlos syndrome through transcriptome and miRNome sequencing of dermal fibroblasts;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2024-01

4. Despite celiprolol therapy, patients with vascular Ehlers–Danlos syndrome remain at risk of vascular events: A 12-year experience in an Italian referral center;Vascular Medicine;2023-12-16

5. Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center;American Journal of Medical Genetics Part A;2023-09-29

同舟云学术

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