geneticvariant相关论文
目的:分析西北地区肝型肝豆状核变性(Wilson’s disease,WD)患儿的临床特征与n ATP7B基因变异情况。n 方法:回顾分析75例......
目的:探讨一个X连锁先天性视网膜劈裂症家系的遗传学病因。方法:收集X连锁先天性视网膜劈裂症家系临床资料,采用聚合酶链式反应和Sa......
目的:对21个甲基丙二酸血症家系进行遗传学分析,明确致病基因及为患者家系进行遗传咨询提供依据。方法:应用高通量测序法对甲基丙二......
目的:分析一例n IQSEC2基因变异引起X连锁精神发育迟滞患儿的临床表型和基因变异情况,为该病的诊断提供参考。n 方法:运用......
目的:通过对两个Coffin-Siris综合征家系先证者的临床表征及基因变异分析,揭示其可能的遗传发病机制,为家系的遗传咨询提供依据。方......
目的:分析1例视网膜色素变性(retinitis pigmentosa, RP)患者的基因变异,明确其可能的遗传学病因。方法:应用全外显子测序技术对先......
目的:分析1例Perlman综合征患儿的临床表型及n DIS3L2基因变异,了解其可能的致病原因。n 方法:抽取患儿及其父母外周血,对......
目的:探讨1例Rothmund-Thomson综合征(Rothmund-Thomson syndrome, RTS)患儿的临床表现和基因变异,明确其可能的致病原因。方法:采......
Molecular Characterization of Two Divergent Variants of Sugarcane bacilliform viruses Infecting Suga
Sugarcane bacilliform viruses (SCBV;genus Badnavirus,family Caulimoviridae) are considered economically important pathog......
Genotype and haplotype association of PON1 with susceptibility to coronary artery disease and clinic
Aim: To evaluate the association of PON1 genetic variants with the susceptibility to coronary artery disease (CAD) as we......
A Model-Free Method for Detecting Disease Association Signals with Multiple Genetic Variants and Cov
Discoveries and analyses of genetic variants at a gene or exome based on high-throughput sequencing technology are incre......
目的分析1个遗传性蛋白C(protein C,PC)缺陷症家系的表型和基因变异。方法检测先证者及其家系成员(共3代7人)的血浆蛋白C活性(prote......
目的探讨1个Alport综合征家系的遗传学病因。方法采用高通量测序和Sanger测序法检测先证者COL4A3、COL4A4、COL4A5基因,并在家系其......
缺血性脑卒中(IS)是脑卒中的主要亚型,它是一种复杂的多基因疾病,由多种环境因素和遗传因素共同影响,因此了解IS的遗传危险因素是阐明......
Genotype and haplotype association of PON1with susceptibility to coronary artery diseaseand clinical
Aim: To evaluate the association of PON1 genetic variants with the susceptibility to coronary artery disease (CAD) a......
SLCO1B1 521TC polymorphism associated with rosuvastatin-induced myotoxicity in Chinese coronary arte
Purpose This nested case-control study aimed to evaluate the association of candidate genetic variants with statin-i......
目的探讨Ⅰ型神经纤维瘤病患儿的NF1基因变异情况,为家系的遗传咨询和临床诊治提供依据。方法应用高通量测序技术检测13例Ⅰ型神经......
目的探讨p21活化激酶2(PAK2)基因变异体rs3662C>A与卒中风险及预后的关系和机制。方法收集动脉粥样硬化性脑梗死患者733例、腔隙性......
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目的 探讨环氧化酶-2(COX-2)启动子区遗传变异与食管癌发病风险的关系,并评价幽门螺杆菌(Hp)感染对其相互作用的影响.方法 以PCR-......