Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
Author:
Funder
Swiss National Science Foundation
Publisher
Elsevier BV
Subject
Genetics (clinical)
Link
http://www.nature.com/articles/s41436-020-0896-0.pdf
Reference32 articles.
1. Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism;Bouvattier;Nat Rev Endocrinol,2011
2. Cangiano B, Swee DS, Quinton R, Bonomi M. Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease. Hum Genet. 2020 Mar 21; https://doi.org/10.1007/s00439-020-02147-1 [Epub ahead of print].
Cited by 8 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. Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous GNRH1 p.R31C and AMHR2 p.G445_L453del Variants;Genes;2023-05-31
2. Detection and characterization of low-level mosaicism among clinically unaffected parents of ‘sporadic’ epidermolysis bullosa simplex cases;British Journal of Dermatology;2022-09-01
3. Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings;Endocrine Connections;2022-02-01
4. Genetics of congenital olfactory dysfunction: a systematic review of the literature;Chemical Senses;2022-01-01
5. GNRH1 Variants in Congenital Hypogonadotropic Hypogonadism: Single-Center Experience and Systematic Literature Review;Neuroendocrinology;2021-12-17
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