Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Songchang Chen"'
Autor:
Yuchan Mao, Huijuan Gao, Lin He, Xingsheng Bo, Caiyun Zhou, Yun Huang, Songchang Chen, Yifeng Liu, Daizhan Zhou, Ya-Jing Tan, Kai Chen, Jing-Yi Li, Bo Zhu, Dian-Fu Chen, Yimin Zhu, Yu-li Qian, Ting-Ting Wang, Mei-Gen Li, Gu-Feng Xu, Xiaoqun Ye, Yiqing Wu, He-Feng Huang, Wei-Jun Yang, Yeqing Qian, Jian-Zhong Sheng, Yun Liu, Runjv Zhang, Ping-Ping Lv, Dan Zhang, Zhou Zhang, Liping Wu, Yang Song, Jun Shen, Chen-Ming Xu, Linling Zhu
Publikováno v:
Human Molecular Genetics. 27:3787-3800
Primary ovarian insufficiency (POI) leads to infertility and premature menopause in young women. The genetic etiology of this disorder remains unknown in most patients. Using whole exome sequencing of a large Chinese POI pedigree, we identified a het
Autor:
Yuting Hu, He-Feng Huang, Songchang Chen, Yiyao Chen, Jun-Yu Zhang, Shuyuan Li, Xiao-Ping Qi, Li Jin, Chenming Xu, Lanlan Zhang, Li Wang
Publikováno v:
Thyroid : official journal of the American Thyroid Association. 28(3)
The revised guidelines for the management of medullary thyroid carcinoma recommend that genetic counseling regarding reproductive options, including preimplantation genetic diagnosis (PGD), be considered for all RET mutation carriers of reproductive
Autor:
Jun-Yu Zhang, Chenming Xu, Songchang Chen, Yu-Qian Xiang, Yinghua Shen, He-Feng Huang, Chunxin Chang, Yiyao Chen, Lanlan Zhang, Shuyuan Li
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0172173 (2017)
PLoS ONE
PLoS ONE
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1
Autor:
Li Jin, Songchang Chen, Chenming Xu, Guo-Lian Ding, Jun-Yu Zhang, Xiao-Nan Yang, Changlin Mei, Dong-Mei Sun, Xiao-Li Xu, Bei Liu, He-Feng Huang
Publikováno v:
Scientific Reports
Here, we evaluate the applicability of a new method that combines targeted next-generation sequencing (NGS) with targeted haplotyping in identifying PKD2 gene mutations in human preimplantation embryos in vitro. To achieve this goal, a proband family
Autor:
Kai Yan, He-Feng Huang, Yuting Hu, Songchang Chen, Minyue Dong, Fan Jin, Jun-Yu Zhang, Bei Liu, Yeqing Qian, Chenming Xu, Yanmei Yang
Publikováno v:
Scientific Reports
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently inherited renal diseases caused by mutations in PKD1 and PKD2. We performed mutational analyses of PKD genes in 49 unrelated patients using direct PCR-sequencing and m