Identification of two novel mutations in the SLCO2A1 prostaglandin transporter gene in a Chinese patient with primary hypertrophic osteoarthropathy

por Guo, Ting, Yang, Kai, Liu, Lv, Tan, Zhi-Ping, Luo, Hong
Publicado 2017

Novel mutation of EXT2 identified in a large family with multiple osteochondromas

por Chen, Xiao-Jun, Zhang, Hong, Tan, Zhi-Ping, Hu, Wen, Yang, Yi-Feng
Publicado 2016

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

por Yuan, Zhuang-Zhuang, Fan, Liang-Liang, Jiang, Zi-Chen, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2020

Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11

por Chen, Jin-Lan, Zhu, Xin, Zhao, Tian-Li, Wang, Jian, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2014

Haploinsufficiency of syncoilin leads to hypertrophic cardiomyopathy

por Fan, Liang-Liang, Yuan, Zhuang-Zhuang, Jiao, Zi-Jun, Zeng, Hui, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2022

Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome

por Yuan, Zhuang-Zhuang, Xie, Xiao-Hui, Gu, Heng, Zhang, Wei-Zhi, Hu, Yi-Qiao, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2021

19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome

por Dong, Hai-Yun, Zeng, Hui, Hu, Yi-Qiao, Xie, Li, Wang, Jian, Wang, Xiu-Ying, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2016

Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death

por Tan, Zhi-Ping, Xie, Li, Deng, Yao, Chen, Jin-Lan, Zhang, Wei-Zhi, Wang, Jian, Yang, Jin-Fu, Yang, Yi-Feng
Publicado 2014

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families

por Guo, Ting, Tan, Zhi-Ping, Chen, Hua-Mei, Zheng, Dong-yuan, liu, Lv, Huang, Xin-Gang, Chen, Ping, Luo, Hong, Yang, Yi-Feng
Publicado 2017

Case Report: Mutant SCN9A Susceptible to Charcot Neuroarthropathy in a Patient With Congenital Insensitivity to Pain

por Xie, Xiao-hui, Tang, Jian-guang, Liu, Zhong-hua, Peng, Shui-jiao, Yuan, Zhuang-zhuang, Gu, Heng, Hu, Yi-qiao, Tan, Zhi-ping
Publicado 2021

Rare De Novo Copy Number Variants in Patients with Congenital Pulmonary Atresia

por Xie, Li, Chen, Jin-Lan, Zhang, Wei-Zhi, Wang, Shou-Zheng, Zhao, Tian-Li, Huang, Can, Wang, Jian, Yang, Jin-Fu, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado 2014

CircRNA Microarray Profiling Reveals hsa_circ_0058493 as a Novel Biomarker for Imatinib-Resistant CML

por Zhong, An-Ni, Yin, Yi, Tang, Bing-Jie, Chen, Lei, Shen, Hong-Wei, Tan, Zhi-Ping, Li, Wen-Qun, He, Qun, Sun, Bao, Zhu, Yan, Xiao, Jie, Jiang, Zhi-Ping, Xu, Ping
Publicado 2021

A novel 7-chemokine-genes predictive signature for prognosis and therapeutic response in renal clear cell carcinoma

por Lin, Ming-Jie, Tang, Xiu-Xiao, Yao, Gao-Sheng, Tan, Zhi-Ping, Dai, Lei, Wang, Ying-Han, Zhu, Jiang-Quan, Xu, Quan-Hui, Mumin, Mukhtar Adan, Liang, Hui, Wang, Zhu, Deng, Qiong, Luo, Jun-Hang, Wei, Jin-Huan, Cao, Jia-Zheng
Publicado 2023