Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: Utility and limitations
Qi, Xiao-Ping, Du, Zhen-Fang, Ma, Ju-Ming, Chen, Xiao-Ling, Zhang, Qing, Fei, Jun, Wei, Xiao-Ming, Chen, Dong, Ke, Hai-Ping, Liu, Xuan-Zhu, Li, Feng, Chen, Zhen-Guang, Su, Zheng, Jin, Hang-Yang, Liu, Wen-Ting, Zhao, Yan, Jiang, Hu-Ling, Lan, Zhang-Zhang, Li, Peng-Fei, Fang, Ming-Yan, Dong, Wei, Zhang, Xian-Ning
Published in Gene (01.03.2013)
Published in Gene (01.03.2013)
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RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family
Qi, Xiao-Ping, Ma, Ju-Ming, Du, Zhen-Fang, Ying, Rong-Biao, Fei, Jun, Jin, Hang-Yang, Han, Jian-Shan, Wang, Jin-Quan, Chen, Xiao-Ling, Chen, Chun-Yue, Liu, Wen-Ting, Lu, Jia-Jun, Zhang, Jian-Guo, Zhang, Xian-Ning
Published in PloS one (31.05.2011)
Published in PloS one (31.05.2011)
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A Small Indel Mutant Mouse Model of Epidermolytic Palmoplantar Keratoderma and Its Application to Mutant-specific shRNA Therapy
Lyu, Ya-Su, Shi, Pei-liang, Chen, Xiao-Ling, Tang, Yue-Xiao, Wang, Yan-Fang, Liu, Rong-Rong, Luan, Xiao-Rui, Fang, Yu, Mei, Ru-Huan, Du, Zhen-Fang, Ke, Hai-Ping, Matro, Erik, Li, Ling-En, Lin, Zhao-Yu, Zhao, Jing, Gao, Xiang, Zhang, Xian-Ning
Published in Molecular therapy. Nucleic acids (2016)
Published in Molecular therapy. Nucleic acids (2016)
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A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree
Lu, Qin-Kang, Zhao, Na, Lv, Ya-Su, Gong, Wei-Kun, Wang, Hui-Yun, Tong, Qi-Hu, Lai, Xiao-Ming, Liu, Rong-Rong, Fang, Ming-Yan, Zhang, Jian-Guo, Du, Zhen-Fang, Zhang, Xian-Ning
Published in International journal of ophthalmology (18.12.2015)
Published in International journal of ophthalmology (18.12.2015)
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RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China
Qi, Xiao-Ping, Chen, Xiao-Ling, Ma, Ju-Ming, Du, Zhen-Fang, Fei, Jun, Yang, Chang-Ping, Cheng, Jun, Song, Qi-Zhe, Han, Jian-Shan, Jin, Hang-Yang, Chen, Zhen-Guang, Wang, Jin-Quan, Yang, You-Ping, Ying, Rong-Biao, Liu, Wen-Ting, Zhao, Yan, Chen, Chun-Yue, Jiang, Hu-Ling, Ke, Hai-Ping, Zhang, Xian-Ning
Published in Thyroid (New York, N.Y.) (01.12.2012)
Published in Thyroid (New York, N.Y.) (01.12.2012)
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Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease
Chen, Xiao-Ling, Zhao, Yan, Ke, Hai-Ping, Liu, Wen-Ting, Du, Zhen-Fang, Zhang, Xian-Ning
Published in Gene (10.10.2012)
Published in Gene (10.10.2012)
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KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma
Ke, Hai-Ping, Jiang, Hu-Ling, Lv, Ya-Su, Huang, Yi-Zhou, Liu, Rong-Rong, Chen, Xiao-Ling, Du, Zhen-Fang, Luo, Yu-Qin, Xu, Chen-Ming, Fan, Qi-Hui, Zhang, Xian-Ning
Published in Gene (01.08.2014)
Published in Gene (01.08.2014)
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A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly
Du, Zhen-Fang, Wei, Wei, Wang, Yi-Fan, Chen, Xiao-Ling, Chen, Chun-Yue, Liu, Wen-Ting, Lu, Jia-Jun, Mao, Lian-Gen, Xu, Chen-Ming, Fang, Hong, Zhang, Xian-Ning
Published in EJD. European journal of dermatology (01.09.2011)
Published in EJD. European journal of dermatology (01.09.2011)
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Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma
Du, Zhen-Fang, Xu, Chen-Ming, Zhao, Yan, Liu, Wen-Ting, Chen, Xiao-Ling, Chen, Chun-Yue, Fang, Hong, Ke, Hai-Ping, Zhang, Xian-Ning
Published in EJD. European journal of dermatology (01.07.2012)
Published in EJD. European journal of dermatology (01.07.2012)
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p.N78S and p.R161Q germline mutations of the VHL gene are present in von Hippel-Lindau syndrome in two pedigrees
QI, XIAO-PING, LIU, WEN-TING, LI, JIN-YU, DAI, YUN, MA, JU-MING, ZHAO, YAN, FEI, JUN, LI, FENG, SHEN, MAO, JIN, HANG-YANG, CHEN, ZHEN-GUANG, DU, ZHEN-FANG, CHEN, XIAO-LING, ZHANG, XIAN-NING
Published in Molecular medicine reports (01.09.2013)
Published in Molecular medicine reports (01.09.2013)
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Clinical Value of Whole-body Magnetic Resonance Diffusion Weighted Imaging on Detection of Malignant Metastases
Li, Cheng, Liu, Zhen-sheng, Du, Xian-mao, He, Ling, Chen, Jian, Wang, Wei, Sun, Fei, Du, Fang, Luo, Zhi-gang, Xue, Zhen-long, Zhao, Yi, Zhou, Chang-wu
Published in Chinese medical sciences journal (01.06.2009)
Published in Chinese medical sciences journal (01.06.2009)
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