应用人类iPS细胞模型研究Xq26-q28区关键基因缺失导致原发性卵巢功能不全的分子机制

81471432
2014
H0411.女性生殖内分泌异常及相关疾病
谭跃球
面上项目
研究员
中南大学
73万元
原发性卵巢功能不全;原始生殖细胞;特化;X染色体关键区;诱导性多能干细胞
2015-01-01到2018-12-31
  • 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 Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias. 期刊论文 Yuan S;Meng L;Zhang Y;Tu C;Du J;Li W;Liang P;Lu G;Tan Y
2 Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency 期刊论文 Yang Xiao-Wen;He Wen-Bin;Gong Fei;Li Wen;Li Xiu-Rong;Zhong Chang-Gao;Lu Guang-Xiu;Lin Ge;Du Juan;Tan Yue-Qiu
3 非梗阻性无精子症的遗传学基础及研究进展 期刊论文 涂超峰;袁诗敏;蒙岚岚;罗爱祥;谭跃球
4 遗传代谢病的生殖干预 期刊论文 谭跃球
5 Phenotypic and molecular characteristics of androgen insensitivity syndrome patients. 期刊论文 Yuan SM;Zhang YN;Du J;Li W;Tu CF;Meng LL;Lin G;Lu GX;Tan YQ
6 Whole-exome sequencing identifies a homozygous donor splice-site mutation in STAG3 that causes primary ovarian insufficiency 期刊论文 He W. -B.;Banerjee S.;Meng L. -L.;Du J.;Gong F.;Huang H.;Zhang X. -X.;Wang Y. -Y.;Lu G. -X.;Lin G.;Tan Y. -Q.
7 A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China. 期刊论文 Dai CL;He WB;Du J;Tan Y;Lu GX;Li W
8 Loss-of-function mutations TDRD7 lead to a rare novel syndrome combining congenital cataract and non-obstructive azoospermia in humans 期刊论文 Tan YQ;Tu CF;Meng LL;Yuan SM;Sjaarda C;Luo AX;Du J;Li W;Gong F;Zhong CG;Deng HX;Lu GX;Liang P;Lin G
9 两种FSHR基因新突变导致的卵巢抵抗综合征研究 期刊论文 李汶;何文斌;周立花;胡晓;李双飞;龚斐;谭跃球
10 Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center 期刊论文 Tan Y;Gao Y;Lin G;Fu M;Li X;Yin X;Du J;Li J;Li W;Peng H;Yuan Y;Chen F;Jiang F;Zhang H;Lu G;Gong F;Wang W
11 Differentiation of primordial germ cells from induced pluripotent stem cells of primary ovarian insufficiency 期刊论文 Leng l;Tan Y;Gong F;Hu L;Ouyang Q;Zhao Y;Lu G;Lin G
12 Correlation analysis between ultrasound findings and abnormal karyotypes in the embryos from early pregnancy loss after in vitro fertilization-embryo transfer. 期刊论文 Li X;Ouyang Y;Yi Y;Tan Y;Lu G
13 Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect.Sci China Life Sci.2019 Jan;62(1):144-147 期刊论文 Meng LL;Tu C;Lu G;Lin G;Tan Y
14 Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction 期刊论文 He WB;Xiao WJ;Tan YQ;Zhao XM;Li W;Zhang QJ;Zhong CG;Li XR;Hu L;Lu G;Lin G;Du J
15 Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings 期刊论文 Luo A;Cheng D;Yuan S;Li H;Du J;Zhang Y;Yang C;Lin G;Zhang W;Tan YQ
16 25例尿道下裂患者的核型及SRD5A2基因突变分析 期刊论文 袁诗敏;钟昌高;李秀蓉;李汶;卢光琇;谭跃球
17 Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency. 期刊论文 He WB;Tan YQ;Hu X;Li W;Xiong B;Luo KL;Gong F;Lu GX;Lin G;Du J
18 COL6A3基因新突变导致的Bethlem肌病家系研究 期刊论文 曹望龙;张亚南;钟昌高;卢光琇;谭跃球
19 五个睑裂狭小综合征家系FOXL2基因突变的研究 期刊论文 杨晓文;李汶;杜娟;袁诗敏;何文斌;张前军;钟昌高;卢光琇;谭跃球
20 A rare polypyrimidine tract mutation in the androgen receptor gene results in complete androgen insensitivity syndrome. 期刊论文 Yuan S;Huang H;Tu C;Du J;Xu D;Lin G;Lu G;Tan YQ
21 Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature 期刊论文 Li H;Du J;Li W;Cheng D;He W;Yi D;Xiong B;Yuan S;Lin G;Lu G;Tan Y
22 DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing 期刊论文 He Wen-Bin;Tu Chao-Feng;Liu Qiang;Meng Lan-Lan;Yuan Shi-Min;Luo Ai-Xiang;He Fu-Sheng;Shen Juan;Li Wen;Du Juan;Zhong Chang-Gao;Lu Guang-Xiu;Lin Ge;Fan Li-Qing;Tan Yue-Qiu
23 Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China 期刊论文 Meng LL;Yuan SM;Tu CF;Lin G;Lu GX;Tan YQ
24 SCN4A基因突变导致的一个先天性副肌强直家系研究 期刊论文 曹望龙;卢光琇;谭跃球
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