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 no Mol Med Rep (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 no Mol Med Rep (2016)

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal...

Por Liu, Ji-jia, Fan, Liang-liang, Chen, Jin-lan, Tan, Zhi-ping, Yang, Yi-feng
Publicado em 2014

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 em 2014

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 no Mol Cytogenet (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 no Sci Rep (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 no Sci Rep (2017)

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 em 2014