Search Results - Zhengmao Hu

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  1. 1
    Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration

    Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration by Madhu Sudhana Saddala, Anton Lennikov, Anthony Mukwaya, Lijuan Fan, Zhengmao Hu, Hu Huang

    Published 2019-03-01
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  2. 2
    Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia

    Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia by Yu Peng, Yu Zheng, Zifeng Deng, Shuju Zhang, Yilan Tan, Zhengmao Hu, Lijuan Tao, Yulin Luo

    Published 2022-05-01
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  3. 3
    A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred

    A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred by Ashfaque Ahmed, Meng Wang, Rizwan Khan, Abid Ali Shah, Hui Guo, Sajid Malik, Kun Xia, Zhengmao Hu

    Published 2021-01-01
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  4. 4
    Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea

    Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea by Yu Zheng, Yuming Peng, Shuju Zhang, Hongmei Zhao, Weijian Chen, Yongjia Yang, Zhengmao Hu, Qiang Yin, Yu Peng

    Published 2022-05-01
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  5. 5
    Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models

    Expression of expanded GGC repeats within NOTCH2NLC causes cardiac dysfunction in mouse models by Yongcheng Pan, Ying Jiang, Juan Wan, Zhengmao Hu, Hong Jiang, Lu Shen, Beisha Tang, Yun Tian, Qiong Liu

    Published 2023-08-01
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  6. 6
    Investigation of Gene Regulatory Networks Associated with Autism Spectrum Disorder Based on MiRNA Expression in China.

    Investigation of Gene Regulatory Networks Associated with Autism Spectrum Disorder Based on MiRNA Expression in China. by Fengzhen Huang, Zhe Long, Zhao Chen, Jiada Li, Zhengmao Hu, Rong Qiu, Wei Zhuang, Beisha Tang, Kun Xia, Hong Jiang

    Published 2015-01-01
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  7. 7
    Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients

    Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients by Guanghui Zhu, Yu Zheng, Yaoxi Liu, An Yan, Zhengmao Hu, Yongjia Yang, Shiting Xiang, Liping Li, Weijian Chen, Yu Peng, Nanbert Zhong, Haibo Mei

    Published 2019-09-01
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  8. 8
    Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders

    Pathogenic missense mutation pattern of forkhead box genes in neurodevelopmental disorders by Lin Han, Meilin Chen, Yazhe Wang, Huidan Wu, Yingting Quan, Ting Bai, Kuokuo Li, Guiqin Duan, Yan Gao, Zhengmao Hu, Kun Xia, Hui Guo

    Published 2019-07-01
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  9. 9
    POGZ de novo missense variants in neuropsychiatric disorders

    POGZ de novo missense variants in neuropsychiatric disorders by Wenjing Zhao, Yingting Quan, Huidan Wu, Lin Han, Ting Bai, Linya Ma, Bin Li, Guanglei Xun, Jianjun Ou, Jingping Zhao, Zhengmao Hu, Hui Guo, Kun Xia

    Published 2019-09-01
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  10. 10
    One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

    One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families by Yongzhi Xie, Zhiqiang Lin, Xiaobo Li, Lei Liu, Shunxiang Huang, Huadong Zhao, Binghao Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang

    Published 2022-01-01
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  11. 11
    Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy

    Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy by Fei Gao, Wen Huang, Yanjun You, Jie Huang, Juan Zhao, Jin Xue, Huaixing Kang, Yingbao Zhu, Zhengmao Hu, Emily G. Allen, Peng Jin, Kun Xia, Ranhui Duan

    Published 2020-06-01
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  12. 12
    A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family.

    A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family. by Zhijie Niu, Yong Feng, Lingyun Mei, Jie Sun, Xueping Wang, Juncheng Wang, Zhengmao Hu, Yunpeng Dong, Hongsheng Chen, Chufeng He, Yalan Liu, Xinzhang Cai, Xuezhong Liu, Lu Jiang

    Published 2017-01-01
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  13. 13
    A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin.

    A missense mutation in CRYBB2 leads to progressive congenital membranous cataract by impacting the solubility and function of βB2-crystallin. by Weirong Chen, Xiaoyun Chen, Zhengmao Hu, Haotian Lin, Fengqi Zhou, Lixia Luo, Xinyu Zhang, Xiaojian Zhong, Ye Yang, Changrui Wu, Zhuoling Lin, Shaobi Ye, Yizhi Liu, Study Group of CCPMOH

    Published 2013-01-01
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  14. 14
    Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

    Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families by Yongzhi Xie, Zhiqiang Lin, Pukar Singh Pakhrin, Xiaobo Li, Binghao Wang, Lei Liu, Shunxiang Huang, Huadong Zhao, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang

    Published 2020-12-01
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  15. 15
    Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder

    Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder by Lin Wang, Yi Zhang, Kuokuo Li, Zheng Wang, Xiaomeng Wang, Bin Li, Guihu Zhao, Zhenghuan Fang, Zhengbao Ling, Tengfei Luo, Lu Xia, Yanping Li, Hui Guo, Zhengmao Hu, Jinchen Li, Zhongsheng Sun, Kun Xia

    Published 2020-10-01
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  16. 16
    Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?

    Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins? by Tianjiao Li, Sandra Martins, Yun Peng, Puzhi Wang, Xiaocan Hou, Zhao Chen, Chunrong Wang, Zhaoli Tang, Rong Qiu, Chao Chen, Zhengmao Hu, Kun Xia, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Jorge Sequeiros, Hong Jiang, Hong Jiang, Hong Jiang

    Published 2019-02-01
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  17. 17
    Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population

    Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population by Yun Peng, Wei Ye, Zhao Chen, Huirong Peng, Puzhi Wang, Xuan Hou, Chunrong Wang, Xin Zhou, Xiaocan Hou, Tianjiao Li, Rong Qiu, Zhengmao Hu, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Beisha Tang, Hong Jiang, Hong Jiang, Hong Jiang, Hong Jiang

    Published 2018-12-01
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  18. 18
    De novo mutations in folate-related genes associated with common developmental disorders

    De novo mutations in folate-related genes associated with common developmental disorders by Tengfei Luo, Kuokuo Li, Zhengbao Ling, Guihu Zhao, Bin Li, Zheng Wang, Xiaomeng Wang, Ying Han, Lu Xia, Yi Zhang, Qiao Zhou, Zhenghuan Fang, Yijing Wang, Qian Chen, Xun Zhou, Hongxu Pan, Yuwen Zhao, Yige Wang, Lijie Dong, Yuanfeng Huang, Zhengmao Hu, Qian Pan, Kun Xia, Jinchen Li

    Published 2021-01-01
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  19. 19
    Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

    Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia. by Yuting Shi, Junling Wang, Jia-Da Li, Haigang Ren, Wenjuan Guan, Miao He, Weiqian Yan, Ying Zhou, Zhengmao Hu, Jianguo Zhang, Jingjing Xiao, Zheng Su, Meizhi Dai, Jun Wang, Hong Jiang, Jifeng Guo, Yafang Zhou, Fufeng Zhang, Nan Li, Juan Du, Qian Xu, Yacen Hu, Qian Pan, Lu Shen, Guanghui Wang, Kun Xia, Zhuohua Zhang, Beisha Tang

    Published 2013-01-01
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  20. 20
    De novo genic mutations among a Chinese autism spectrum disorder cohort

    De novo genic mutations among a Chinese autism spectrum disorder cohort by Tianyun Wang, Hui Guo, Bo Xiong, Holly A.F. Stessman, Huidan Wu, Bradley P. Coe, Tychele N. Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema, Laura Vives, Lu Xia, Meina Tang, Jianjun Ou, Biyuan Chen, Yidong Shen, Guanglei Xun, Min Long, Janice Lin, Zev N. Kronenberg, Yu Peng, Ting Bai, Honghui Li, Xiaoyan Ke, Zhengmao Hu, Jingping Zhao, Xiaobing Zou, Kun Xia, Evan E. Eichler

    Published 2016-11-01
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