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International Journal of Human Genetics最新文献

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High-resolution Melting to Identify Single Nucleotide Polymorphisms of IL-12 Receptor B Gene (IL-12RB1) in the Tunisian Population 高分辨率熔融鉴定突尼斯人群中IL-12受体B基因(IL-12RB1)的单核苷酸多态性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-02-20 DOI: 10.31901/24566330.2020/20.01.747
R. Jelassi
{"title":"High-resolution Melting to Identify Single Nucleotide Polymorphisms of IL-12 Receptor B Gene (IL-12RB1) in the Tunisian Population","authors":"R. Jelassi","doi":"10.31901/24566330.2020/20.01.747","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.747","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47807687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Evolutionary Relationship of Four Major Ethnic Populations in Nigeria Based on Alu PV92 Insertion Polymorphism 基于Alu PV92插入多态性的尼日利亚四个主要民族的进化关系
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-02-20 DOI: 10.31901/24566330.2020/20.01.748
Onyia Oby Christie
{"title":"Evolutionary Relationship of Four Major Ethnic Populations in Nigeria Based on Alu PV92 Insertion Polymorphism","authors":"Onyia Oby Christie","doi":"10.31901/24566330.2020/20.01.748","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.748","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42867091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Nuclear Co-repressor 1: A Potential Candidate Gene in the Manifestation of Congenital Heart Diseases 核共抑制因子1：先天性心脏病表现的潜在候选基因
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-02-20 DOI: 10.31901/24566330.2020/20.02.738
N. Ramachandra
{"title":"Nuclear Co-repressor 1: A Potential Candidate Gene in the Manifestation of Congenital Heart Diseases","authors":"N. Ramachandra","doi":"10.31901/24566330.2020/20.02.738","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.02.738","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48694152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Effects of FSHR Gene Variants on Ovarian Response FSHR基因变异对卵巢反应的影响
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-02-02 DOI: 10.31901/24566330.2020/20.01.743
Cayci Gulhan
{"title":"Effects of FSHR Gene Variants on Ovarian Response","authors":"Cayci Gulhan","doi":"10.31901/24566330.2020/20.01.743","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.743","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47805371","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Thymoquinone Down-regulates VEGFA and Up-regulates FLT1 Transcriptional Levels in Human Breast Cancer Cells Thymo醌下调人乳腺癌症细胞VEGFA和上调FLT1转录水平
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-01-02 DOI: 10.31901/24566330.2020/20.01.746
Z. Yeğin
{"title":"Thymoquinone Down-regulates VEGFA and Up-regulates FLT1 Transcriptional Levels in Human Breast Cancer Cells","authors":"Z. Yeğin","doi":"10.31901/24566330.2020/20.01.746","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.746","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43355236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Detection of the Polymorphism of 19 SNPs Associated with the Metabolism of Anti-CVD Drugs by Multiplex PCR-LDR in CVD Patients 多重PCR-LDR检测CVD患者抗CVD药物代谢相关的19个SNPs多态性
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-01-02 DOI: 10.31901/24566330.2020/20.01.741
H. Cao
{"title":"Detection of the Polymorphism of 19 SNPs Associated with the Metabolism of Anti-CVD Drugs by Multiplex PCR-LDR in CVD Patients","authors":"H. Cao","doi":"10.31901/24566330.2020/20.01.741","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.741","url":null,"abstract":"Cardiovascular diseases (CVD) are worldwide threat to human health, resulting in the highest mortality among all causes of death. The effect of therapeutic medicines for CVD varies greatly among people because of their different genetic background. In order to evaluate the necessity of having genetic testing before taking medicines in CVD patients, 19 SNPs influencing the metabolism of frequently-used anti-CVD drugs were selected and detected in 237 CVD patients by PCR-LDR method. The results showed that the genotypic distribution of most SNPs met the Hardy–Weinberg principle. The allelic distribution of the SNPs in the tested samples was similar to that in Chinese population. 78 percent of these patients carried at least one allele that affected the efficacy of the medicines. The accuracy of the PCR-LDR detection for the clinical samples was comparable to that of Sanger sequencing, and with higher multiplexity and lower cost.","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49222196","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Evaluation of CDH1 Promoter Methylation and HPV Infection Status in the Development of Parotid Pleomorphic Adenoma 腮腺多形性腺瘤发生过程中CDH1启动子甲基化与HPV感染状况的评价
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2020-01-01 DOI: 10.31901/24566330.2020/20.01.745
F. Ozen
{"title":"Evaluation of CDH1 Promoter Methylation and HPV Infection Status in the Development of Parotid Pleomorphic Adenoma","authors":"F. Ozen","doi":"10.31901/24566330.2020/20.01.745","DOIUrl":"https://doi.org/10.31901/24566330.2020/20.01.745","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"69785108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Cytogenetics of Recurrent Spontaneous Abortions: A Study of 250 Products of Conception 复发性自然流产的细胞遗传学：对250个妊娠产物的研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2019-10-08 DOI: 10.31901/24566330.2019/19.04.740
S. Bakshi
{"title":"Cytogenetics of Recurrent Spontaneous Abortions: A Study of 250 Products of Conception","authors":"S. Bakshi","doi":"10.31901/24566330.2019/19.04.740","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.740","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42115552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cytogenetics of Recurrent Spontaneous Abortions: A Study of 250 Products of Conception 反复自然流产的细胞遗传学:250例受孕产物的研究
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2019-10-08 DOI: 10.31901/24566330.2019/19.04.02
Anushka Shrivastava
{"title":"Cytogenetics of Recurrent Spontaneous Abortions: A Study of 250 Products of Conception","authors":"Anushka Shrivastava","doi":"10.31901/24566330.2019/19.04.02","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.02","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48600578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mutational Analysis of TYR Gene Causing Oculocutaneous Albinism in Families from District Peshawar 导致白沙瓦地区眼部皮肤白化病的TYR基因突变分析
IF 0.1 4区 生物学
International Journal of Human Genetics Pub Date : 2019-10-08 DOI: 10.31901/24566330.2019/19.04.742
F. Ullah
{"title":"Mutational Analysis of TYR Gene Causing Oculocutaneous Albinism in Families from District Peshawar","authors":"F. Ullah","doi":"10.31901/24566330.2019/19.04.742","DOIUrl":"https://doi.org/10.31901/24566330.2019/19.04.742","url":null,"abstract":"","PeriodicalId":54956,"journal":{"name":"International Journal of Human Genetics","volume":null,"pages":null},"PeriodicalIF":0.1,"publicationDate":"2019-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47843347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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