Mutation screening of theTPOgene in a cohort of 192 Chinese patients with congenital hypothyroidism
Author:
Publisher
BMJ
Subject
General Medicine
Reference25 articles.
1. Congenital hypothyroidism;Rastogi;Orphanet J Rare Dis,2010
2. Prevalence of maternal dietary iodine insufficiency in the north east of England: implications for the fetus;Kibirige;Arch Dis Child Fetal Neonatal Ed,2004
3. Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms;Hermanns;Thyroid,2013
4. Genetics of congenital hypothyroidism;Park;J Med Genet,2005
5. Genetic causes of congenital hypothyroidism due to dyshormonogenesis;Grasberger;Curr Opin Pediatr,2011
Cited by 17 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. Disulfide Bonds of Thyroid Peroxidase Are Critical Elements for Subcellular Localization, Proteasome-Dependent Degradation, and Enzyme Activity;Thyroid®;2024-05-01
2. Thyroid hormone biosynthesis and its role in brain development and maintenance;Advances in Protein Chemistry and Structural Biology;2023
3. The first Korean case of 2p15p16.1 microdeletion syndrome, characterized by facial dysmorphism, developmental delay, and congenital hypothyroidism;Journal of Genetic Medicine;2022-12-31
4. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review;Molecular and Cellular Endocrinology;2022-12
5. Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis;Endocrine;2022-05-04
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