Search Results - "Chang, Jiazhen"

High levels of circulating cell‐free DNA are a biomarker of active SLE by Xu, Yalan, Song, Yijun, Chang, Jiazhen, Zhou, Xiya, Qi, Qingwei, Tian, Xinping, Li, Mengtao, Zeng, Xiaofeng, Xu, Mengnan, Zhang, Wenjuan, Cram, David S, Liu, Juntao

“…Background High levels of circulating cell‐free DNA (cfDNA) have been reported in patients with inflammatory conditions. The aim of the study was to…”
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Automatic Measurement of Inclination Angle of Utility Poles Using 2D Image and 3D Point Cloud by Chen, Lei, Chang, Jiazhen, Xu, Jinli, Yang, Zuowei

“…The utility pole inclination angle is an important parameter for determining pole health conditions. Without depth information, the angle cannot be estimated…”
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Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART) by Lv, Weigang, Wei, Xianda, Guo, Ruolan, Liu, Qin, Zheng, Yu, Chang, Jiazhen, Bai, Ting, Li, Haoxian, Zhang, Jianguang, Song, Zhuo, Cram, David S, Liang, Desheng, Wu, Lingqian

“…Noninvasive prenatal testing (NIPT) for monogenic diseases by use of PCR-based strategies requires precise quantification of mutant fetal alleles circulating…”
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Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies by Hao, Na, Lou, Haijuan, Li, Mengmeng, Zhang, Hanzhe, Chang, Jiazhen, Qi, Qingwei, Zhou, Xiya, Bai, Junjie, Guo, Jiangshan, Wang, Yaru, Zhang, Yanli, Jiang, Yulin

“…Complex chromosomal rearrangements (CCRs) can result in spontaneous abortions, infertility, and malformations in newborns. In this study, we explored a…”
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Hypoxia reduces mouse urine output via HIF1α–mediated up–regulation of renal AQP1 by Qiao, Rongfang, Cui, Xiaohui, Hu, Yitong, Wei, Haoqing, Xu, Hu, Zhang, Cong, Du, Chunxiu, Chang, Jiazhen, Li, Yaqing, Ming, Wenhua, Qi, Yinghui, Guan, Youfei, Zhang, Xiaoyan

“…Introduction: Patients with acute mountain sickness (AMS) due to hypoxia at high altitudes often exhibit abnormal water metabolism. Hypoxia-inducible factors…”
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Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report by Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Xu, Chenlu, Guo, Ruidong, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei (Victor), Qi, Qingwei

“…Objective: Mosaicism is a common biological phenomenon in organisms and has been reported in many types of chromosome abnormalities, including the absence of…”
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Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis by Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Lü, Guizhen, Guo, Xiangxue, Guo, Ruidong, Liu, Wenjie, Xu, Chenlu, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei Victor, Qi, Qingwei

“…Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms. The…”
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Taxifolin attenuates neuroinflammation and microglial pyroptosis via the PI3K/Akt signaling pathway after spinal cord injury by Hu, Zhenxin, Xuan, Lina, Wu, Tingting, Jiang, Nizhou, Liu, Xiangjun, Chang, Jiazhen, Wang, Te, Han, Nan, Tian, Xiliang

“…•Taxifolin alleviates neuroinflammation and microglial pyroptosis through PI3K/AKT signaling pathway after SCI.•Taxifolin promotes axonal regeneration and…”
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Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes by Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao

“…The routine assessment to determine the genetic etiology for fetal ultrasound anomalies follows a sequential approach, which usually takes about 6-8 weeks…”
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eP483 - Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes by Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao

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Simultaneous detection of copy number and single nucleotide variations improves diagnostic yield of fetuses with ultrasound anomalies and normal karyotypes by Qi, Qingwei, Jiang, Yulin, Zhou, Xiya, Meng, Hua, Hao, Na, Chang, Jiazhen, Bai, Junjie, Wang, Chunli, Wang, Mingming, Guo, Jiangshan, Ouyang, Yunshu, Xu, Zhonghui, Xiao, Mengsu, Zhang, Victor Wei, Liu, Juntao

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Accidental discovery of copy number variation on chromosome 1 in a fetus with high risk of trisomy 13 suggested by NIPT by Chang, Jiazhen, Song, Yingna, Qi, Qingwei, Hao, Na, Liu, Juntao

“…To validate a fetus with high risk for trisomy 13 suggested by non-invasive prenatal testing (NIPT). The fetus was selected as the study subject after the NIPT…”
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Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23 by Chang, Jiazhen, Zhao, Lijuan, Chen, Chen, Peng, Ying, Xia, Yan, Tang, Guizhi, Bai, Ting, Zhang, Yanghui, Ma, Ruiyu, Guo, Ruolan, Mei, Libin, Liang, Desheng, Cao, Qinying, Wu, Lingqian

“…22q11.2 microduplication syndrome was recently described as a new disorder with variable clinical features that ranged from normal to mental retardation and…”
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Evaluation and Analysis of Absence of Homozygosity in Prenatal Diagnosis by Lü, Yan, Jiang, Yulin, Zhou, Xiya, Hao, Na, Lü, Guizhen, Guo, Xiangxue, Guo, Ruidong, Liu, Wenjie, Xu, Chenlu, Chang, Jiazhen, Li, Mengmeng, Zhang, Hanzhe, Zhou, Jing, Zhang, Wei (Victor), Qi, Qingwei

“…Objective: Absence of homozygosity (AOH) is a genetic characteristic known to cause human diseases mainly through autosomal recessive or imprinting mechanisms…”
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Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets by Huang, Yanru, Mei, Libin, Pan, Qian, Tan, Hu, Quan, Yi, Gui, Baoheng, Chang, Jiazhen, Ma, Ruiyu, Peng, Ying, Yang, Pu, Liang, Desheng, Wu, Lingqian

“…X-linked hypophosphatemic rickets (XLHR), the most common form of inherited rickets, is a dominant disorder characterized by hypophosphatemia, abnormal bone…”
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Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome by Ma, Ruiyu, Peng, Ying, Zhang, Yanghui, Xia, Yan, Tang, Guizhi, Chang, Jiazhen, Guo, Ruolan, Gui, Baoheng, Huang, Yanru, Chen, Chen, Liang, Desheng, Wu, Lingqian

“…Increasing number of cases with small supernumerary marker chromosomes (sSMCs) without centromeric DNA and dozens of cases with trisomy 2q3 have been reported…”
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Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome by Jiang, Chen, Pan, Nan, Lyu, Weigang, Peng, Ying, Liu, Jing, Guo, Ruolan, Chang, Jiazhen, Liang, Desheng, Wu, Lingqian

“…To explore the genetic basis for a pedigree affected with X-linked mental retardation. The proband was subjected to chromosomal karyotyping, FMR1 mutation…”
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Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome by Ma, Ruiyu, Peng, Ying, Zhang, Yanghui, Xia, Yan, Tang, Guizhi, Chang, Jiazhen, Guo, Ruolan, Gui, Baoheng, Huang, Yanru, Chen, Chen, Liang, Desheng, Wu, Lingqian

“…BACKGROUNDIncreasing number of cases with small supernumerary marker chromosomes (sSMCs) without centromeric DNA and dozens of cases with trisomy 2q3 have been…”
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