Detection of combined genomic variants in a Jordanian family with familial non-autoimmune hyperthyroidism
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://link.springer.com/content/pdf/10.1007/s12041-009-0032-z.pdf
Reference34 articles.
1. Akcurin S., Turkkahraman D., Tysoe C., Ellard S., De Leener A., Vassart G. and Costaqliola S. 2008 A family with a novel TSH receptor activating germline mutation (p.Ala485Val). Eur. J. Pediatr. 153, 122–126.
2. Alberti L., Proverbio M. C., Costagliola S., Weber G., Beck-Peccoz P., Chiumello G. and Persani L. 2001 A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism. Eur. J. Endocrinol. 145, 249–254.
3. Arturi F., Chiefari E., Tumino S., Russo D., Squatrito S., Chazenbalk G. et al. 2002 Similarities and differences in the phenotype of members of an Italian family with hereditary non autoimmune hyperthyroidism associated with an activating germline mutation. J. Endocrinol. Invest. 25, 696–701.
4. Biebermann H., Schöneberg T., Krude H., Gudermann T. and Gruters A. 2000 Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood. Langenbecks Arch. Surg. 385, 390–392.
5. Biebermann H., Schöneberg T., Hess C., Germak J., Gudermann T. and Gruters A. 2001 the first activating TSH receptor mutation in transmembrane domain 1 identified in a family with non-autoimmune hyperthyroidism. J. Clin. Endocrinol. Metab. 86, 4429–4433.
Cited by 4 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. Characteristics of Thyrotoxicosis Among Thyroid Patients and their Quality of life in a Teaching Hospital in Jordan: A Crosssectional Study;Pharmacy Practice;2022-03-26
2. Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism;Journal of Pediatric Endocrinology and Metabolism;2016-01-01
3. Lack of association between autonomously functioning thyroid nodules and germline polymorphisms of the thyrotropin receptor and Gαs genes in a mild to moderate iodine-deficient Caucasian population;Journal of Endocrinological Investigation;2014-05-01
4. Follicular Variant of Papillary Thyroid Carcinoma Presenting as Toxic Nodule in an Adolescent: Coexistent Polymorphism of the TSHR and Gsα Genes;Thyroid;2013-02
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