AB183. Clinical and cytogenetic characterization of a boy with a de novo pure partial trisomy 16q24.1-24.3 and complex chromosome rearrangement

por Zhou, Yang, Yao, Qi, Cui, Ying-Xia, Yao, Bing, Fan, Kai, Xia, Xin-Yi, Hu, Yu-An, Li, Xiao-Jun
Publicado 2014

Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis

por Li, Tian-Fu, Wu, Qiu-Yue, Zhang, Cui, Li, Wei-Wei, Li, Na, Cui, Ying-Xia, Li, Xiao-Jun, Xia, Xin-Yi
Publicado 2014

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive

por Wu, Qiu-Yue, Li, Na, Li, Wei-Wei, Li, Tian-Fu, Zhang, Cui, Cui, Ying-Xia, Xia, Xin-Yi, Zhai, Jin-Sheng
Publicado 2014

46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature

por Li, Tian-Fu, Wu, Qiu-Yue, Zhang, Cui, Li, Wei-Wei, Zhou, Qing, Jiang, Wei-Jun, Cui, Ying-Xia, Xia, Xin-Yi, Shi, Yi-Chao
Publicado 2014

A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review

por XIA, XIN-YI, ZHANG, CUI, LI, TIAN-FU, WU, QIU-YUE, LI, NA, LI, WEI-WEI, CUI, YING-XIA, LI, XIAO-JUN, SHI, YI-CHAO
Publicado 2015

A mouse model for X-linked Alport syndrome induced by Del-ATGG in the Col4a5 gene

por Wu, Wei-qing, Zhang, Jia-xun, Cui, Ying-xia, Zhang, Ming-chao, Chen, Xiao-hang, Duan, Shan, Zeng, Cai-hong, Li, Pei-ning, Li, Xiao-jun
Publicado 2023

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family

por Xia, Xin-Yi, Wu, Qiu-Yue, An, Li-Mei, Li, Wei-Wei, Li, Na, Li, Tian-Fu, Zhang, Cui, Cui, Ying-Xia, Li, Xiao-Jun, Xue, Chun-Yan
Publicado 2014

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

por Xia, Xin-Yi, Li, Na, Cao, Xiang, Wu, Qiu-Yue, Li, Tian-Fu, Zhang, Cui, Li, Wei-Wei, Cui, Ying-Xia, Li, Xiao-Jun, Xue, Chun-Yan
Publicado 2014

A parthenogenetic maternal and double paternal contribution to an ovotesticular disorder of sex development

por Xia, Xin-Yi, Wang, Wei-Ping, Li, Tian-Fu, Li, Wei-Wei, Wu, Qiu-Yue, Li, Na, Zhang, Cui, Gao, Hong-Liu, Li, Xiao-Jun, Cui, Ying-Xia
Publicado 2014

A Novel p. Gly630Ser Mutation of COL2A1 in a Chinese Family with Presentations of Legg–Calvé–Perthes Disease or Avascular Necrosis of the Femoral Head

por Li, Na, Yu, Jian, Cao, Xiang, Wu, Qiu-Yue, Li, Wei-Wei, Li, Tian-Fu, Zhang, Cui, Cui, Ying-Xia, Li, Xiao-Jun, Yin, Zhi-Min, Xia, Xin-Yi
Publicado 2014

A patient with unusual features and a 69.5 Mb duplication from a de novo extra der (9): A case report

por ZHOU, YU-CHUN, ZHANG, CUI, ZHAI, JIN-SHENG, LI, TIAN-FU, WU, QIU-YUE, LI, WEI-WEI, LI, NA, LI, XIAO-JUN, HUANG, YU-FENG, CUI, YING-XIA, XIA, XIN-YI
Publicado 2015

Novel Mutations of ABCB6 Associated with Autosomal Dominant Dyschromatosis Universalis Hereditaria

por Cui, Ying-Xia, Xia, Xin-Yi, Zhou, Yang, Gao, Lin, Shang, Xue-Jun, Ni, Tong, Wang, Wei-Ping, Fan, Xiao-Buo, Yin, Hong-Lin, Jiang, Shao-Jun, Yao, Bing, Hu, Yu-An, Wang, Gang, Li, Xiao-Jun
Publicado 2013

Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome

por Liu, Jian-Hong, Wei, Xiu-Xiu, Li, Ang, Cui, Ying-Xia, Xia, Xin-Yi, Qin, Wei-Song, Zhang, Ming-Chao, Gao, Er-Zhi, Sun, Jun, Gao, Chun-Lin, Liu, Feng-Xia, Wu, Qiu-Yue, Li, Wei-Wei, Asan, Liu, Zhi-Hong, Li, Xiao-Jun
Publicado 2017