Results 101 to 110 of about 1,448 (146)

SNP基因芯片结合多重置换扩增技术检测单细胞 非整倍体的研究

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2009
【目的】 建立并优化利用微阵列-比较基因组杂交技术检测单细胞非整倍体的实验方案65377; 【方法】 纤维母细胞系GM02732(47, XY, +18)和GM00343[46, XY, 4(del) (qter > p14)]被用于实验65377;阳性对照组为上述细胞系的基因组DNA(gDNA)(A组与B组,n = 6);实验组为单细胞模板的多重置换扩增(MDA)产物(C组与D组,n = 10);阴性对照组为空白对照的MDA产物(E组,n = 6)65377;以上样本与10 k 2 ...
doaj  

[Analysis and clinical characteristics of <i>SLC26A4</i> gene mutations in 72 cases of large vestibular aqueduct syndrome]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Liu Y   +13 more
europepmc   +1 more source

[Prediction of hearing change in children with enlarged vestibular aqueduct with different genotypes by linear mixed-effects model]. [PDF]

open access: yesLin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
Deng L   +7 more
europepmc   +1 more source

基于表观基因组学数据分析阿尔茨海默病中差异基因表达的研究

open access: yesZhongguo shiyan zhenduanxue
目的 利用表观基因组学数据探究阿尔茨海默病(Alzheimer’s disease, AD)中差异基因的表达。方法 从GEO(gene expression omnibus, GEO)数据库中下载mRNA表达微阵列数据集GSE1297和GSE4757,以及DNA甲基化450 K芯片数据集GSE125895,利用Bioconductor包进行数据预处理,使用R中的limma包筛选出差异表达基因(differentially expressed genes, DEGs)和差异甲基化基因 ...
于倩   +6 more
doaj  

三个石骨症致病基因内的新突变及其基因型-表型

open access: yesZhongshan Daxue xuebao. Yixue kexue ban, 2016
【目的】 对2例恶性石骨症以及1例ADOⅡ型石骨症患者的致病基因TCIRG1及CLCN7进行致病性突变的研究,以扩展突变谱,为开发针对突变类型的产前诊断性芯片的设计提供数据支持。【方法】 收集3名石骨症患者及其父母的外周血,提取DNA,PCR扩增TCIRG1及CLCN7基因的所有外显子及剪切位点序列,对PCR产物进行Sanger测序并进行生物信息学分析,同时对新发现的突变在50名正常对照中进行测序,以排除良性多态性。【结果】 在患者1的TCIRG1基因第4外显子发现缺失突变c.242delC (p ...
doaj  

[Effect of dephosphorylation of tumor metastasis suppressor gene <i>LASS2</i> on vacuolar ATPase activity and invasiveness of prostate cancer]. [PDF]

open access: yesBeijing Da Xue Xue Bao Yi Xue Ban
Liu Y   +8 more
europepmc   +1 more source

[Public Database-based Study to Explore the Expression and Role of DDB1 
in Lung Adenocarcinoma]. [PDF]

open access: yesZhongguo Fei Ai Za Zhi
Zou X   +5 more
europepmc   +1 more source

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