46,XY性发育异常患者基因突变谱及基因组结构变异谱研究

81971375
2019
H23.医学遗传学
聂敏
面上项目
研究员
中国医学科学院北京协和医院
55万元
基因突变;46,XY性发育不全;拷贝数变异;性发育不全;基因组结构变异
2020-01-01到2023-12-31
  • 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 21-羟化酶缺陷症患者血脂异常发生情况及其相关因素分析 期刊论文 高寅洁;孙邦;卢琳;伍学焱;茅江峰;王曦;童安莉;陈适;聂敏
2 Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review 期刊论文 zhang wei;mao jiangfeng;wang xi;sun bang;zhao zhi yuan;zhang xiaoxia;nie min;wu xueyan
3 High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency 期刊论文 Zhiyuan Zhao;Lin Lu;Ou Wang;Xueyan Wu;Bang Sun;Wei Zhang;Xi Wang;Jiangfeng Mao;Shi Chen;Anli Tong;Min Nie
4 Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants 期刊论文 SUN BANG;LU LIN;XIE SAHO WEI;ZHANG WEI;ZHANG XIAOXIA;TONG AN LI;CHEN SHI;WU XUEYAN;MAO JIANGFENG;QIU LING;NIE MIN
5 Novel rare variants in FGFR1 and clinical characteristics analysis in a series of congenital hypogonadotropic hypogonadism patients 期刊论文 Min Nie;Min Nie;Rongrong Chen;Bang Sun;Jiangfeng Mao;Xi Wang;Hongbing Zhang;Xueyan Wu
6 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 Bingqing;Liu Zhaoxiang;Gao Yinjie;Wang Xi;Mao Jiangfeng;Nie Min;Wu Xueyan
7 Bone mineral density and trabecular bone score in patients with 21-hydroxylase deficiency after glucocorticoid treatment. 期刊论文 Gao Yinjie;Wang Ou;Guan Wenmin;Wu Xueyan;Mao Jiangfeng;Wang Xi;Yu Wei;Nie Min
8 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
9 Mixed hypogonadism: a neglected combined form of hypogonadism 期刊论文 zhang rui;yu bing qing;wang xi;nie min;ma wan lu;jiwen;huang qi bin;zhu yiyi;sun bang;zhang jun yi;zhang wei;liu hong ying;mao jiangfeng;wu xueyan
10 The underlying cause of the simple virilizing phenotype in patients with 21-hydroxylase deficiency harboring P31L variant 期刊论文 zhao zhi yuan;gao yin jie;lu lin;tong an li;chen shi;zhang wei;zhang xiaoxia;sun bang;wu xueyan;mao jiang feng;wangxi;nie min
11 Targeted long‑read sequencing forcomprehensive detection ofCYP21A2 mutations inpatients with21‑hydroxylase defciency 期刊论文 ZHANG XIAOXIA;GAO YINJIE;LU LIN;CAO YAQING;ZHANG WEI;SUN BANG;WU XUEYAN;TONG ANLI;CHEN SHI;WANG XI;MAO JIANG FENG;NIE MIN
12 The genetic spectrum of a Chinese series of patients with 46, XY disorders of sex development 期刊论文 Wei Zhang;Jiangfeng Mao;Xi Wang;Zhiyuan Zhao;Xiaoxia Zhang;Bang Sun;Yaqing Cao;Min Nie;Xueyan Wu
13 Efficacy of Pulsatile Gonadotropin-Releasing Hormone Therapy in Male Patients: Comparison between Pituitary Stalk Interruption Syndrome and Congenital Hypogonadotropic Hypogonadism 期刊论文 huang qi bin;mao jiangfeng;wangxi;yu bing qing;ma wanlu;ji wen;zhu yiyi;zhang rui;sun bang;zhang jun yi;nie min;wu xueyan
14 High prevalence of hypertension and target organ damage in patients with 11β-hydroxylase deficiency 期刊论文 SUN BANG;LU LIN;GAO YIN JIE;YU BINGQING;CHEN SHI;TONG AN LI;WU XUE YAN;MAO JIANG FENG;WANG XI;ZHAO ZHI YUAN;ZHANG WEI;NIE MIN
15 Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations 期刊论文 Yu-Fan Yang;Hai-Lu Ma;Xi Wang;Min Nie;Jiang-Feng Mao;Xue-Yan Wu
16 In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes 期刊论文 Wei Zhang;Bingging Yu;Wei Luo;Bang Sun;Xiaoxia Zhang;Xi Wang;Jiangfeng Mao;Min Nie;Xueyan Wu
17 Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing 期刊论文 Bingqing Yu;Yinjie Gao;Jiangfeng Mao;Xi Wang;Min Nie;Xueyan Wu
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