Genetic causes of congenital hypothyroidism due to dyshormonogenesis
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Pediatrics, Perinatology, and Child Health
Reference40 articles.
1. Scintigraphic imaging of paediatric thyroid dysfunction.;Clerc;Horm Res,2008
2. Cloning and characterization of the thyroid iodide transporter.;Dai;Nature,1996
3. Congenital hypothyroidism caused by a mutation in the NaI symporter.;Fujiwara;Nat Genet,1997
4. Genetics and phenomics of hypothyroidism and goiter due to NIS mutations.;Spitzweg;Mol Cell Endocrinol,2010
5. Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodiumiodide symporter gene and review of genotype-phenotype correlations in ITD.;Szinnai;J Clin Endocrinol Metab,2006
Cited by 171 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. Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ;Medicine;2024-07-19
2. Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience;Archives de Pédiatrie;2024-07
3. Revealing the genetic complexity of hypothyroidism: integrating complementary association methods;Frontiers in Genetics;2024-06-11
4. Late-onset dyshormonogenic goitrous hypothyroidism due to a homozygous mutation of the SLC26A7 gene: a case report;Italian Journal of Pediatrics;2024-05-29
5. Neonatal Screening for Congenital Hypothyroidism: A Study Conducted in a Tertiary Care Hospital of Gujarat;Indian Journal of Medical Biochemistry;2024-04-20
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