Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism

Men Meichao; Wu Jiayu; Zhao Yaguang; Xing Xiaoliang; Jiang Fang; Zheng Ruizhi; Li Jia-Da

首页> 外文期刊>Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society >Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism

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Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism

机译：FGFR1，FGF8和FGF17突变的基因型和表型光谱，具有特发性低血管发育性腺性腺性腺性腺增生性腺

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摘要

hypogonadism (IHH) and to characterize the clinical presentations and therapeutic outcomes of IHH patients with FGFR1, FGF8, and FGF17 mutations.

机译：Hypogonadism（IHH）和表征FGFR1，FGF8和FGF17突变的IHH患者的临床介绍和治疗结果。

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来源
《Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society》 |2020年第1期|共9页
作者
Men Meichao; Wu Jiayu; Zhao Yaguang; Xing Xiaoliang; Jiang Fang; Zheng Ruizhi; Li Jia-Da;
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作者单位

Cent S Univ Xiangya Hosp Hlth Management Ctr Changsha Peoples R China;

Cent S Univ Sch Life Sci Changsha 410078 Hunan Peoples R China;

Cent S Univ Sch Life Sci Changsha 410078 Hunan Peoples R China;

Cent S Univ Sch Life Sci Changsha 410078 Hunan Peoples R China;

Cent S Univ Sch Life Sci Changsha 410078 Hunan Peoples R China;

Peoples Hosp Henan Prov Dept Endocrinol Zhengzhou Peoples R China;

Cent S Univ Sch Life Sci Changsha 410078 Hunan Peoples R China;

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原文格式 PDF
正文语种 eng
中图分类妇科学;
关键词
Idiopathic hypogonadotropic hypogonadism; FGFR1; FGF8; FGF17; whole-exome sequencing;

机译：特发性低血管增不亢进性低因素;FGFR1;FGF8;FGF17;全外测序;
入库时间 2022-08-20 03:22:48

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1. Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism [J] . Men Meichao, Wu Jiayu, Zhao Yaguang, Fertility and Sterility: Official Journal of the American Fertility Society, Pacific Coast Fertility Society, and the Canadian Fertility and Andrology Society . 2020,第1期

机译：FGFR1，FGF8和FGF17突变的基因型和表型光谱，具有特发性低血管发育性腺性腺性腺性腺增生性腺
2. A novel FGF8 mutation as a potential cause of holoprosencephaly, idiopathic hypogonadotropic hypogonadism, renal dysgenesis, and M. Hirschsprung [J] . Iwen K. A., Hiort O., Biskup S., Experimental and clinical endocrinology and diabetes: Official journal, German Society of Endocrinology [and] German Diabetes Association . 2013,第3期

机译：一种新的FGF8突变可能是导致全脑性先天性，特发性性腺功能减退性腺功能低下，肾发育不全和M. Hirschsprung的潜在原因
3. Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism [J] . MiraouiH., DwyerA.A., SykiotisG.P., The American Journal of Human Genetics . 2013,第5期

机译：在患有先天性性腺功能减退性腺功能减退症的个体中鉴定出FGF17，IL17RD，DUSP6，SPRY4和FLRT3的突变
4. Genotypic/phenotypic analysis of endothelial progenitor cells in idiopathic pulmonary arterial hypertension and hereditary hemorrhagic telangiectasia [D] . Zucco, Liana V. 2006

机译：特发性肺动脉高压和遗传性出血性毛细血管扩张症中内皮祖细胞的基因型/表型分析
5. Novel Mutations in FGFR1 Causing Idiopathic Hypogonadotropic Hypogonadism: A Cohort Study in Eastern Indian Population [O] . Arjun Baidya, Saptarshi Datta, Satinath Mukhopadhyay, 2021

机译：FGFR1中的新突变导致特发性低血管增不血症性低因素：东印度人口的队列研究
6. Novel Mutations in FGFR1 Causing Idiopathic Hypogonadotropic Hypogonadism: A Cohort Study in Eastern Indian Population [O] . Arjun Baidya, Saptarshi Datta, Satinath Mukhopadhyay, 2021

机译：FGFR1中的新突变导致特发性低血管增不血症性低因素：东印度人口的队列研究

Genotypic and phenotypic spectra of FGFR1, FGF8, and FGF17 mutations in a Chinese cohort with idiopathic hypogonadotropic hypogonadism

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