男性特发性低促性腺激素性性腺功能减退症的病因研究

81771576
2017
H23.医学遗传学
伍学焱
面上项目
主任医师
中国医学科学院北京协和医院
55万元
低促性腺激素性性腺功能减退症;基因;生殖内分泌
2018-01-01到2021-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus 期刊论文 Ma Wanlu;Mao Jiangfeng;Wang Xi;Duan Lian;Song Yuwen;Lian Xiaolan;Zheng Junjie;Liu Zhaoxiang;Nie Min;Wu Xueyan
2 Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development 期刊论文 Yu Bingqing;Liu Zhaoxiang;Gao Yinjie;Mao Jiangfeng;Wang Xi;Hao Ming;Ma Wanlu;Huang Qibin;Zhang Rui;Nie Min;Wu Xueyan
3 第451例遗传身高矮一下肢短一软骨发育不良 期刊论文 于冰青;聂敏;郝明;茅江峰;王曦;高寅洁;伍学焱
4 男性特发性低促性腺激素性性腺功能减退症的逆转现象 期刊论文 黄奇彬;伍学焱
5 Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients 期刊论文 Nie Min;Yu Bingqing;Chen Rongrong;Sun Bang;Mao Jiangfeng;Wang Xi;Zhang Hongbing;Wu Xueyan
6 第516例绝经后高雄激素血症-卵巢增大-癌抗原125升高 期刊论文 季文;王曦;茅江峰;毛歆歆;于冰青;聂敏;伍学焱
7 CYP21A2基因纯合或杂合大片段缺失与21-羟化酶缺陷症临床表现的关系 期刊论文 高寅洁;于冰青;卢琳;童安莉;陈适;茅江峰;王曦;伍学焱;聂敏
8 Clinical Characteristics and Spermatogenesis in Patients with Congenital Hypogonadotropic Hypogonadism Caused by FGFR1 Mutations 期刊论文 Li Shuying;Zhao Yaling;Nie Min;Ma Wanlu;Wang Xi;Ji Wen;Yang Yufan;Hao Ming;Yu Bingqing;Gao Yinjie;Mao Jiangfeng;Wu Xueyan
9 Metabolic Effects of Testosterone Replacement Therapy in Patients with Type 2 Diabetes Mellitus or Metabolic Syndrome: A Meta-Analysis 期刊论文 Li Shu-ying;Zhao Ya-ling;Yang Yu-fan;Wang Xi;Nie Min;Wu Xue-yan;Mao Jiang-feng
10 Gonadotropin Therapy Once a Week for Spermatogenesis in Hypogonadotropic Hypogonadism 期刊论文 Ma Wanlu;Mao Jiangfeng;Nie Min;Wang Xi;Zheng junjie;Liu zhaoxiang;Yu bingqing;Xiong shuyu;Hao ming;Gao yinjie;Ji wen;Huang qibin;Zhang rui;Li shuying;Zhao yaling;Sun bang;Wu xueyan
11 High prevalence of hypertension and target organ damage in patients with 11β-hydroxylase deficiency 期刊论文 Sun Bang;Lu Lin;Gao Yinjie;Yu Bingqing;Chen Shi;Tong anli;Wu Xueyan;Mao Jiangfeng;Wang Xi;Zhao Zhiyuan;Zhang Wei;Nie Min
12 疑难病例析评第505例青春不发育-阴蒂增大-睾丸切除-睾酮升高 期刊论文 孙邦;高寅洁;赵亚玲;王曦;聂敏;田秦杰;罗敏;伍学焱;茅江峰
13 青中年男性甲状腺功能亢进症患者治疗前后性激素和性激素结合球蛋白的变化 期刊论文 马婉璐;王曦;茅江峰;程歆琦;聂敏;刘兆祥;郑俊杰;于冰青;郝明;黄奇彬;张睿;高寅杰;伍学焱
14 Mutation of c.244G > T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing 期刊论文 Yu Bingqing;Gao Yinjie;Mao Jiangfeng;Wang Xi;Nie Min;Wu Xueyan
15 第496例皮肤色素沉着一孕酮升高一身高突增 期刊论文 马婉璐;茅江峰;聂敏;王曦;高寅杰;郝明;伍学焱
16 Growth hormone cocktail improves hepatopulmonary syndrome secondary to hypopituitarism: A case report 期刊论文 Ji Wen;Nie Min;Mao Jiang-Feng;Zhang Hong-Bing;Wang Xi;Wu Xue-Yan
17 Osteonecrosis of Femoral Head is Associated with Congenital Multiple Pituitary Hormone Deficiency: Report of Three Cases and Literature Review 期刊论文 Li Shuying;Mao Jiangfeng;Wang Xi;Nie Min;Wu Xueyan
18 Combined therapy with GnRH analogue and growth hormone increases adult height in children with short stature and normal pubertal onset 期刊论文 Li Shuying;Wang Xi;Zhao Yaling;Ji Wen;Mao Jiangfeng;Nie Min;Wu Xueyan
19 Two cases of immunoglobulin G4 (IgG4)-related hypophysitis diagnosed without pituitary biopsy 期刊论文 Ma Wanlu;Wang Xi;Nie Min;Fu Junling;Mao Jiangfeng;Wu Xueyan
20 Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics 期刊论文 Sun Bang;Wang Xi;Mao Jiangfeng;Zhao Zhiyuan;Zhang Wei;Nie Min;Wu Xueyan
21 胰升糖素样肽1和胰升糖素样肽1受体激动剂对下丘脑-垂体-性腺轴作用的研究进展 期刊论文 郝明;茅江峰;聂敏;于冰青;高寅洁;王曦;伍学焱
22 新发睾丸决定基因SRY突变导致46,XY性发育异常三例 期刊论文 王曦;聂敏;刘兆祥;茅江峰;伍学焱
23 Predictive factors for pituitary response to pulsatile GnRH therapy in patients with congenital hypogonadotropic hypogonadism 期刊论文 Mao Jiang-Feng;Wang Xi;Zheng Jun-Jie;Liu Zhao-Xiang;Xu Hong-Li;Huang Bing-Kun;Nie Min;Wu Xue-Yan
24 不同基因型Prader-Willi综合征患者临床生化特征和治疗效果差异分析 期刊论文 于冰青;贾淞蕊;高寅洁;茅江峰;王曦;聂敏;伍学焱
25 多重连接探针扩增技术联合Sanger测序对21-羟化酶缺陷症的诊断价值 期刊论文 高寅洁;于冰青;卢琳;童安莉;陈适;茅江峰;王曦;伍学焱;聂敏
26 Gonadotropin treatment for male partial congenital hypogonadotropic hypogonadism in Chinese patients 期刊论文 Hao Ming;Nie Min;Yu Bing-Qing;Gao Yin-Jie;Wang Xi;Ma Wan-Lu;Huang Qi-Bin;Zhang Rui;Mao Jiang-Feng;Wu Xue-Yan
27 Comparison of Clinical Characteristics and Spermatogenesis in CHH Patients Caused by PROKR2 and FGFR1 Mutations 期刊论文 Min Nie;Yaling Zhao;Ming Hao;Yufan Yang;Xueyan Wu;Jiangfeng Mao;Shuying Li
28 Increased bone mineral density in male patients with idiopathic hypogonadotropic hypogonadism who undergo sex hormone therapy: Findings from cross-sectional and longitudinal studies. 期刊论文 Rui Zhang;Min Nie;Wanlu Ma;Xueyan Wu;Jiangfeng Mao;Bingqing Yu;Wen Ji;Qibin Huang;Xi Wang
29 Optimal treatment for spermatogenesis in male patients with hypogonadotropic hypogonadism 期刊论文 Jianli Lin;Jiangfeng Mao;Xi Wang;Wanlu Ma;Ming Hao;Xueyan Wu
30 Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing 期刊论文 Yu Bing-Qing;Liu Zhao-Xiang;Gao Yin-Jie;Wang Xi;Mao Jiang-Feng;Nie Min;Wu Xue-Yan
31 肠道菌群紊乱与男性不育:一个易被忽视的重要病因 期刊论文 季文;伍学焱
32 Desmopressin Suppresses Gonadotropin-Induced Spermatogenesis in Patients With Pituitary Stalk Interruption Syndrome: A Retrospective, Single-Center Cohort Study 期刊论文 Ji Wen;Mao Jiangfeng;Nie Min;Wang Xi;Li Shuying;Yu Bingqing;Zhang Rui;Gao Yinjie;Huang Qibin;Wu Xueyan
33 Efficacy and safety of pulsatile gonadotropin-releasing hormone therapy in patients with congenital hypogonadotropic hypogonadism: a multicentre clinical study. 期刊论文 Hao Ming;Mao Jiang-Feng;Guan Qing-Bo;Tian Long;Han Hu;Lei Hong-En;Zheng Dong-Mei;Tian Zhen-Hua;Nie Min;Wang Xi;Yu Bing-Qing;Gao Yin-Jie;Wu Xue-Yan
34 性激素对骨密度及骨形态影响的研究进展 期刊论文 张睿;伍学焱
35 第533例父母近亲结婚-身材矮小-高血压-双肾上腺增粗-醛固酮升高 期刊论文 黄奇彬;王曦;高寅洁;聂敏;茅江峰;伍学焱
36 AROMATASE INHIBITOR INCREASES THE HEIGHT OF PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY 期刊论文 Xi Wang;Mao Jangfeng;Li Shuying;Zhao Yaling;Nie Min;Yu Bingqing;Gao Yinjie;Lu Lin;Wu Xueyan
37 Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis 期刊论文 Gao Yinjie;Yu Bingqing;Mao Jiangfeng;Wang Xi;Nie Min;Wu Xueyan
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