Clinical overview on RASopathies
Author:
Affiliation:
1. Institute of Human Genetics, University Hospital Magdeburg, Medical Faculty Otto‐von‐Guericke University Magdeburg Germany
Funder
Federal Ministry of Education and Research
Deutsche Forschungsgemeinschaft
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.32015
Reference88 articles.
1. Costello syndrome and hyperinsulinemic hypoglycemia
2. Behavioral Profile in RASopathies
3. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway
4. Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy
5. Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations
Cited by 13 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. Melanoma and LEOPARD Syndrome: Understanding the Role of PTPN11 Mutations in Melanomagenesis;Acta Dermato-Venereologica;2024-01-08
2. The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic–Therapeutic Implications;Genes;2023-11-22
3. Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant;American Journal of Case Reports;2023-11-21
4. Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes;Frontiers in Endocrinology;2023-10-27
5. Novel therapeutic perspectives in Noonan syndrome and RASopathies;European Journal of Pediatrics;2023-10-21
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