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浏览/检索结果: 共6条，第1-6条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2 期刊论文 KIDNEY INTERNATIONAL, 2019, 卷号: 96, 期号: 3 作者:  Ashraf, Shazia;  Zhu, Bingbing;  Cao, Aili;  Li, Jianhua;  Young, James 收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05 focal segmental glomerulosclerosis  nephrotic syndrome  podocyte   Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system 期刊论文 Clinical Genetics, 2019 作者:  Rao J.;  Liu X.;  Mao J.;  Tang X.;  Shen Q. 收藏  |  浏览/下载：8/0  |  提交时间：2019/12/11 chronic kidney disease (CKD)  congenital anomalies of the kidney and urinary tract (CAKUT)  genetics  nephronophthisis (NPHP)  polycystic kidney disease PKD  renal disease  singleton-WES  steroid-resistant nephrotic syndrome (SRNS)  targeted gene sequence (TGS)  trio approach for WES (trio-WES)  whole-exome sequence (WES)   Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome 期刊论文 BMC NEPHROLOGY, 2018, 卷号: 19 作者:  Li, Guo-min;  Cao, Qi;  Shen, Qian;  Sun, Li;  Zhai, Yi-hui 收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05 Chinese children  Congenital nephritic syndrome  NPHS1 gene  WT1 gene  COQ6 gene   Structural Basis of Highly Specific Interaction between Nephrin and MAGI1 in Slit Diaphragm Assembly and Signaling 期刊论文 JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2018, 卷号: 29, 期号: 9, 页码: 2362-2371 作者:  Shang, Yuan;  Weng, Zhuangfeng;  Lin, Lin;  Zhang, Rongguang;  Zhu, Jinwei 收藏  |  浏览/下载：32/0  |  提交时间：2019/04/28 Congenital Nephrotic Syndrome  Focal Segmental Glomerulosclerosis  Proteins  Mutations  Podocytes  Complex  Filtration  Membrane  Adhesion  Disease   Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children 期刊论文 Gene, 2017, 卷号: 625, 页码: 15-20 作者:  Wang, Ying;  Dang, Xiqiang;  He, Qingnan;  Zhen, Yan;  He, Xiaoxie 收藏  |  浏览/下载：12/0  |  提交时间：2019/12/03 SRNS  steroid-resistant nephrotic syndrome  INS  idiopathic nephrotic syndrome  CNS  congenital nephrotic syndrome  FSGS  focal segmental glomerulosclerosis  TBMN  thin basement membrane nephropathy  MsPGN  mesangioproliferative glomerulonephritis  IgMN  Immunoglobulin M nephropathy  NGS  next generation DNA sequencing  PPH2  Polyphen-2 (PPH2)  MA  Mutation Assessor  Nephrotic syndrome  Steroid-resistant  Gene mutation  SRNS  NGS   Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome 期刊论文 Genetics and molecular research : GMR, 2011, 卷号: 10, 期号: 4, 页码: 2517-2522 作者:  Wu, L. Q.;  Hu, J. J.;  Xue, J. J.;  Liang, D. S.* 收藏  |  浏览/下载：1/0  |  提交时间：2019/12/03 Chinese family  Congenital nephrotic syndrome of finnish type  Mutation analysis  NPHS1  Prenatal genetic diagnosis