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Identification of novel FBN1 variations implicated in congenital scoliosis
Lin, Mao, Zhao, Sen, Liu, Gang, Huang, Yingzhao, Yu, Chenxi, Zhao, Yanxue, Wang, Lianlei, Zhang, Yuanqiang, Yan, Zihui, Wang, Shengru, Liu, Sen, Liu, Jiaqi, Ye, Yongyu, Chen, Yaping, Yang, Xu, Tong, Bingdu, Wang, Zheng, Yang, Xinzhuang, Niu, Yuchen, Li, Xiaoxin, Wang, Yipeng, Su, Jianzhong, Yuan, Jian, Zhao, Hengqiang, Zhang, Shuyang, Qiu, Guixing, Wu, Zhihong, Zhang, Jianguo, Wu, Nan, Zuo, Yuzhi, Ikegawa, Shiro, Wu, Nan
Published in Journal of human genetics (01.03.2020)
Published in Journal of human genetics (01.03.2020)
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The genetic risk factors for cerebral venous thrombosis: a case-control study in a Chinese national comprehensive hospital
Wang, Shaoying, Yao, Ming, Yang, Xinzhuang, Zhu, Yicheng, Peng, Bin
Published in Thrombosis journal (17.06.2024)
Published in Thrombosis journal (17.06.2024)
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Remnant cholesterol predicts risk of recurrent thrombosis beyond LDL-cholesterol in patients with antiphospholipid syndrome
Cai, Bin, Zhou, Yangzhong, Yang, Xinzhuang, Wang, Zhaoqing, Huang, Can, Xiao, Qingqing, Jiang, Hui, Zhao, Yuan, Tian, Xinping, Wang, Qian, Li, Guanqiao, Li, Mengtao, Zeng, Xiaofeng, Zhao, Jiuliang
Published in BMC medicine (23.04.2025)
Published in BMC medicine (23.04.2025)
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Deciphering the transcriptomic landscape of systemic lupus erythematosus-associated pulmonary arterial hypertension
Li, Yutong, Qian, Junyan, Deng, Xiaoyue, Ma, Leyao, Yuan, Qizhi, Wang, Qian, Tian, Zhuang, Zeng, Xiaofeng, Yang, Xinzhuang, Zhao, Jiuliang, Li, Mengtao
Published in Respiratory research (18.03.2025)
Published in Respiratory research (18.03.2025)
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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants
Tian, Wen, Huang, Yingzhao, Sun, Liying, Guo, Yang, Zhao, Sen, Lin, Mao, Dong, Xiying, Zhong, Wenyao, Yin, Yuehan, Chen, Zefu, Zhang, Nan, Zhang, Yuanqiang, Wang, Lianlei, Lin, Jiachen, Yan, Zihui, Yang, Xinzhuang, Zhao, Junhui, Qiu, Guixing, Zhang, Jianguo, Wu, Zhihong, Wu, Nan
Published in Orphanet journal of rare diseases (14.10.2020)
Published in Orphanet journal of rare diseases (14.10.2020)
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A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
Yang, Xinzhuang, Zhang, Dingding, Shen, Si, Li, Pidong, Li, Mengjie, Niu, Jingwen, Ma, Dongrui, Xu, Dan, Li, Shuangjie, Guo, Xueyu, Wang, Zhen, Zhao, Yanhuan, Ren, Haitao, Ling, Chao, Wang, Yang, Fan, Yu, Shen, Jianxiong, Zhu, Yicheng, Wang, Depeng, Cui, Liying, Chen, Lin, Shi, Changhe, Dai, Yi
Published in BMC medical genomics (20.10.2023)
Published in BMC medical genomics (20.10.2023)
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Whole-Genome Methylation Analysis of Phenotype Discordant Monozygotic Twins Reveals Novel Epigenetic Perturbation Contributing to the Pathogenesis of Adolescent Idiopathic Scoliosis
Liu, Gang, Wang, Lianlei, Wang, Xinyu, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Liu, Sen, Zuo, Yuzhi, Niu, Yuchen, Zhao, Sen, Zhao, Yanxue, Zhang, Jianguo, Shen, Jianxiong, Wang, Yipeng, Qiu, Guixing, Wu, Zhihong, Wu, Nan
Published in Frontiers in bioengineering and biotechnology (10.12.2019)
Published in Frontiers in bioengineering and biotechnology (10.12.2019)
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Association Study Identified HLA‐DQA1 as a Novel Genetic Risk of Systemic Lupus Erythematosus‐Associated Pulmonary Arterial Hypertension
Qian, Junyan, Chen, Ying, Yang, Xinzhuang, Wang, Qian, Zhao, Jiuliang, Deng, Xiaoyue, Ding, Yufang, Li, Shengjie, Liu, Yongtai, Tian, Zhuang, Shen, Juan, Liao, Qijun, Wang, Yanhong, Zuo, Xianbo, Zhang, Xuejun, Li, Mengtao, Cui, Yong, Yu, Xueqing, Zeng, Xiaofeng
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.12.2023)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.12.2023)
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Clonal Hematopoiesis of Indeterminate Potential Associated with Covert Cerebral Changes
Li, Yijuan, Zhang, Dingding, Han, Fei, Zhou, Lixin, Ni, Jun, Yao, Ming, Jin, Zhengyu, Zhang, Shuyang, Cui, Liying, Yang, Xinzhuang, Zhu, Yi‐Cheng
Published in Annals of neurology (27.06.2025)
Published in Annals of neurology (27.06.2025)
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The Prospective Registry of MyositIS (PROMIS): I. Next-generation sequencing identifies HLA-DQA1 as a novel genetic risk of anti-MDA5 antibody-positive dermatomyositis
Yang, Xinzhuang, Yu, Chen, Zhang, Xiuling, Wu, Chanyuan, Peng, Zhao, Gai, Yixuan, Peng, Jinmin, Zhou, Shuang, Song, Lan, Huang, Hui, Xu, Dong, Zhao, Jiuliang, Tian, Xinping, Duan, Xinwang, Zeng, Xiaofeng, Li, Mengtao, Wang, Qian
Published in Annals of the rheumatic diseases (01.07.2025)
Published in Annals of the rheumatic diseases (01.07.2025)
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Rare RNF213 variants is related to early-onset intracranial atherosclerosis: A Chinese community-based study
Fang, Jianxun, Yang, Xinzhuang, Tang, Mingyu, Li, Shengde, Han, Fei, Zhou, Lixin, Li, Mingli, Yang, Meng, Cui, Liying, Zhang, Shuyang, Zhu, Yicheng, Yao, Ming, Ni, Jun
Published in Journal of stroke and cerebrovascular diseases (01.11.2024)
Published in Journal of stroke and cerebrovascular diseases (01.11.2024)
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The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
Liu, Jiaqi, Zhou, Yangzhong, Liu, Sen, Song, Xiaofei, Yang, Xin-Zhuang, Fan, Yanhui, Chen, Weisheng, Akdemir, Zeynep Coban, Yan, Zihui, Zuo, Yuzhi, Du, Renqian, Liu, Zhenlei, Yuan, Bo, Zhao, Sen, Liu, Gang, Chen, Yixin, Zhao, Yanxue, Lin, Mao, Zhu, Qiankun, Niu, Yuchen, Liu, Pengfei, Ikegawa, Shiro, Song, You-Qiang, Posey, Jennifer E., Qiu, Guixing, Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan
Published in Human genetics (01.07.2018)
Published in Human genetics (01.07.2018)
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Genotype--Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5[alpha]-Reductase Deficiency
Gui, Ting, Yao, Fengxia, Yang, Xinzhuang, Wang, Xi, Nie, Min, Wu, Xueyan, Tian, Qinjie
Published in International journal of general medicine (31.08.2022)
Published in International journal of general medicine (31.08.2022)
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TBX6 missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease
Chen, Weisheng, Lin, Jiachen, Wang, Lianlei, Li, Xiaoxin, Zhao, Sen, Liu, Jiaqi, Akdemir, Zeynep C., Zhao, Yanxue, Du, Renqian, Ye, Yongyu, Song, Xiaofei, Zhang, Yuanqiang, Yan, Zihui, Yang, Xinzhuang, Lin, Mao, Shen, Jianxiong, Wang, Shengru, Gao, Na, Yang, Ying, Liu, Ying, Li, Wenli, Liu, Jia, Zhang, Na, Yang, Xu, Xu, Yuan, Zhang, Jianguo, Delgado, Mauricio R., Posey, Jennifer E., Qiu, Guixing, Rios, Jonathan J., Liu, Pengfei, Wise, Carol A., Zhang, Feng, Wu, Zhihong, Lupski, James R., Wu, Nan
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
Fan, Xin, Zhao, Sen, Yu, Chenxi, Wu, Di, Yan, Zihui, Fan, Lijun, Song, Yanning, Wang, Yi, Li, Chuan, Ming, Yue, Gui, Baoheng, Niu, Yuchen, Li, Xiaoxin, Yang, Xinzhuang, Luo, Shiyu, Zhang, Qiang, Zhao, Xiuli, Pan, Hui, Li, Mei, Xia, Weibo, Qiu, Guixing, Liu, Pengfei, Zhang, Shuyang, Zhang, Jianguo, Wu, Zhihong, Lupski, James R., Posey, Jennifer E., Chen, Shaoke, Gong, Chunxiu, Wu, Nan
Published in Journal of genetics and genomics (20.05.2021)
Published in Journal of genetics and genomics (20.05.2021)
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Fat Mass and Obesity-Associated (FTO) Gene Polymorphisms Are Associated with Risk of Intervertebral Disc Degeneration in Chinese Han Population: A Case Control Study
Chen, Jia, Zhu, Qiankun, Liu, Gang, Yang, Xinzhuang, Zhao, Sen, Chen, Weisheng, Wu, Zhihong, Wu, Nan, Qiu, Guixing
Published in Medical science monitor (12.08.2018)
Published in Medical science monitor (12.08.2018)
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Molecular Classification and Prognosis of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension Based on Rare Variants in Pah Risk Genes
Qian, Junyan, Yang, Xinzhuang, Ding, Yufang, Wang, Qian, Zhao, Jiuliang, Liu, Yongtai, Tian, Zhuang, Wang, Yanhong, Wang, Xiaojian, Li, Mengtao, Zeng, Xiaofeng
Published in European journal of rheumatology (11.05.2024)
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Published in European journal of rheumatology (11.05.2024)
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Molecular Classification and Prognosis of Systemic Lupus Erythematosus-Associated Pulmonary Arterial Hypertension Based on Rare Variants in Pah Risk Genes
Qian, Junyan, Yang, Xinzhuang, Ding, Yufang, Wang, Qian, Zhao, Jiuliang, Liu, Yongtai, Tian, Zhuang, Wang, Yanhong, Wang, Xiaojian, Li, Mengtao, Zeng, Xiaofeng
Published in European journal of rheumatology (01.05.2024)
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Published in European journal of rheumatology (01.05.2024)
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Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency
Gui, Ting, Yao, Fengxia, Yang, Xinzhuang, Wang, Xi, Nie, Min, Wu, Xueyan, Tian, Qinjie
Published in International journal of general medicine (01.08.2022)
Published in International journal of general medicine (01.08.2022)
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