Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Three NovelIGSF1Mutations in Four Japanese Patients With X-Linked Congenital Central Hypothyroidism

Published:2013-10 Issue:10 Volume:98 Page:E1682-E1691
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:The Journal of Clinical Endocrinology & Metabolism

Author:

Nakamura Akie,Bak Beata,Silander Tanya L.R.,Lam Jessica,Hotsubo Tomoyuki,Yorifuji Toru,Ishizu Katsura,Bernard Daniel J.,Tajima Toshihiro

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Cited by 40 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 and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan;Endocrine Journal;2024

2. A novel variant of <i>IGSF1</i> in siblings with congenital central hypothyroidism whose diagnosis was prompted by school health checkups;Clinical Pediatric Endocrinology;2024

3. IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice;Endocrinology;2022-06-16

4. The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals;PLOS ONE;2022-06-02

5. A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism;CLIN PEDIATR ENDOCRI;2022

同舟云学术

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