Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference36 articles.
1. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!;McDonald-McGinn;Genet Med,2001
2. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study;Ryan;J Med Genet,1997
3. The 22q11 deletion syndromes;Scambler;Hum Mol Genet,2000
4. Minimum prevalence of chromosome 22q11 deletions;Wilson;Am J Hum Genet Suppl,1994
5. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation;Rauch;Am J Med Genet A,2006
Cited by 184 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. A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens;The American Journal of Human Genetics;2024-05
2. Primary and secondary defects of the thymus;Immunological Reviews;2024-01-16
3. Human thymus in health and disease: Recent advances in diagnosis and biology;Seminars in Immunology;2023-03
4. First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease;American Journal of Respiratory and Critical Care Medicine;2022-12-15
5. FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia;Journal of Allergy and Clinical Immunology;2022-12
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