解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract:METHODS:The studied group comprises 124 patients with acute myocardial infarction on dual antiplatelet therapy with acetylsalicylic acid (ASA) and thienopyridines. Antiplatelet therapy was monitored by platelet-rich plasma light transmittance aggregometry (LTA) using the APACT 4004 analyzer (Helena Laboratories) and by...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0077
更新日期:2014-09-01 00:00:00
abstract:AIMS:Surviving under a stressful environment may be a real challenge. Individuals (and their offspring) with accumulated genetic variation in their DNA repair genes may have a higher probability to survive under these conditions. A partially unstable DNA repair system raises the mutagenesis rate and the probability for...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0053
更新日期:2014-08-01 00:00:00
abstract:AIM:Neurexin 1 has two major protein isoforms using alternative promoters, coding for the alpha-neurexin 1 (α-NRXN1) and beta-neurexin 1 (β-NRXN1) genes. This study is to explore the possibility that variants of the NRXN1 gene predispose to intellectual disability (ID) and autism spectrum disorder (ASD). METHODS:The c...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0003
更新日期:2014-07-01 00:00:00
abstract:AIM:To investigate the association between high myopia (HM) and single nucleotide polymorphisms (SNPs) in the myocilin (MYOC), hepatocyte growth factor (HGF), hepatocyte growth factor receptor (MET), and aggrecan (ACAN) genes in a Han Chinese population. METHODS:Sixteen SNPs were genotyped by the SNaPshot method in a ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0479
更新日期:2014-06-01 00:00:00
abstract:AIMS:The relationship between common haplotype-tagging polymorphisms (rs266729 [11365C>G], rs822395 [-4034A>C], rs822396 [-3964A>G], rs2241766 [45T>G], and rs1501299 [276G>T]) in the ADIPOQ gene and cancer risk has been investigated in different ethnic groups; however, these studies have yielded contradictory results. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2013.0493
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:Several published articles investigated the relationship between a polymorphism -148C>T in the β-fibrinogen gene (FGB) and risk of ischemic stroke, and did not reach the same conclusion. To shed light on these inconclusive findings, we performed a meta-analysis of studies relating the FGB genetic polymorphis...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2013.0501
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:Urothelial carcinoma (UC) is the most common histologic subtype of bladder cancer. The administration of mitomycin C (MMC) into the bladder after transurethral resection of the bladder tumor (TURBT) is a common treatment strategy for preventing recurrence after surgery. We previously applied hydrostatic pres...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0443
更新日期:2014-06-01 00:00:00
abstract::P-glycoprotein (P-gp) is present in various tissue cells, required for the pumping of lipophilic drugs (including glucocorticoids) out of cells. We hypothesized that polymorphisms in the P-gp encoding gene (multidrug-resistant transporter-1 [MDR1]) are related to individual differences in glucocorticoid sensitivity an...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0374
更新日期:2014-03-01 00:00:00
abstract:OBJECTIVE:Interleukin-6 (IL-6) is a pleiotropic cytokine and important mediator of many inflammatory processes, which might affect susceptibility to multiple sclerosis (MS). The aim of this study was to assess the effect of IL-6-174G/C polymorphism on the risk of MS using a meta-analysis. MATERIALS AND METHODS:The Pub...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析,评审
doi:10.1089/gtmb.2013.0387
更新日期:2014-02-01 00:00:00
abstract::The association between excision repair cross complementing group 2 (ERCC2) Asp312Asn polymorphism and lung cancer has been reported by many articles recently, but the results were controversial and inconclusive. Therefore, a meta-analysis was conducted to assess the relationship between them. Pooled odds ratios (ORs)...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2013.0296
更新日期:2014-01-01 00:00:00
abstract:OBJECTIVE:Diabetic nephropathy (DN) is a serious complication of diabetes mellitus. We aimed to evaluate the interleukin (IL)-6 gene polymorphisms in type 2 DN and control subjects. MATERIALS AND METHODS:The patients selected from the Department of Endocrinology and Metabolism Diseases included 43 type 2 diabetes mell...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0357
更新日期:2014-01-01 00:00:00
abstract:AIMS:To investigate the association between transforming growth factor-beta3 (TGF-β3) genetic polymorphisms and nonsyndromic cleft lip and palate (NSCLP) risk. METHODS:An extensive literature search for relevant studies was conducted on PubMed, Embase, Web of Science, Cochrane Library, and CBM databases from their inc...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析,评审
doi:10.1089/gtmb.2013.0334
更新日期:2013-12-01 00:00:00
abstract:OBJECTIVES:Currently, there is a debate regarding the roles of two functional fibrinogen-related variants (rs6050 and rs1800790) and ischemic stroke (IS). MATERIALS AND METHODS:A total of 1402 subjects (834 cases and 568 controls) were genotyped for single-nucleotide polymorphisms rs6050 and rs1800790 with the ligatio...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0131
更新日期:2013-11-01 00:00:00
abstract:BACKGROUND AND AIMS:Published data on the associations between interleukin-4 receptor (IL-4R) gene polymorphisms (Q551R, I50V) and rheumatoid arthritis (RA) risk are controversial. To quantitatively evaluate the relationships, a meta-analysis was performed. METHODS:Studies were identified from the databases of PubMed,...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析,评审
doi:10.1089/gtmb.2013.0186
更新日期:2013-10-01 00:00:00
abstract:AIMS:Inflammatory markers play an important role in the development of diseases related to metabolic syndrome, such as type 2 diabetes (T2D) and coronary artery disease (CAD). The present study evaluates the association of -2518A>G polymorphism in the monocyte chemoattractant protein-1 (MCP-1) gene with T2D and CAD. R...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2013.0227
更新日期:2013-10-01 00:00:00
abstract:BACKGROUND AND AIMS:Recently, genetic association studies have linked a number of single nucleotide polymorphisms (SNPs) with liver fibrosis risk of hepatitis C. The present study was designed to validate the association of emerging SNPs with development of liver cirrhosis and chronicity in a Chinese population infecte...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1089/gtmb.2013.0058
更新日期:2013-09-01 00:00:00
abstract::Inherited functional single-nucleotide polymorphisms (SNPs) in DNA repair genes may influence the capability of DNA repair and contribute to the risk of breast cancer. We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1089/gtmb.2013.0122
更新日期:2013-09-01 00:00:00
abstract::Genes and their products involved in the biological pathways of human cancers have been studied as either targets of new therapies, or predictive markers for the sensitivity of or resistance to the therapies. Companion diagnostic testing on biological markers for targeted cancer therapies has become a vital component ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2012.0510
更新日期:2013-07-01 00:00:00
abstract::Prostate cancer is the most common noncutaneous malignant neoplasm in men in the Western countries. It is well established that genetic and epigenetic alterations are common events in prostate cancer, which may lead to aberrant expression of critical genes. Most of the studies are focused on the overexpressed or dupli...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0524
更新日期:2013-07-01 00:00:00
abstract:AIM:Our aim was to examine the diagnostic yield of genetic testing in 855 consecutive unrelated cases referred for Long QT syndrome (LQTS). RESULTS:Eight hundred fifty five consecutive patients with a mean age at testing of 27.5±18.6 years, were referred for LQTS genetic testing and had accompanying clinical informati...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0118
更新日期:2013-07-01 00:00:00
abstract::Up to date, few published studies indicated the associations between genetic polymorphisms and epidural local anesthetics consumption. In this study, we investigated the associations between seven single-nucleotide polymorphisms (SNPs) and epidural ropivacaine consumption during breast cancer surgery in women from nor...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0388
更新日期:2013-06-01 00:00:00
abstract::Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of atherosclerosis. Genetic research on coronary artery disease (CAD) has traditionally focused on investigation aimed at identifying disease-susceptibility genes. The aim ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0383
更新日期:2013-04-01 00:00:00
abstract::Genetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it cou...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0218
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG) initially ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0230
更新日期:2012-12-01 00:00:00
abstract:PURPOSE:We describe a real-time polymerase chain reaction (PCR) protocol based on the fluorescent molecule SYBR Green chemistry, for a low- to medium-throughput analysis of Y-chromosome microdeletions, optimized according to the European guidelines and aimed at making the protocol faster, avoiding post-PCR processing, ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0220
更新日期:2012-12-01 00:00:00
abstract::Two polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C, were hypothesized to decrease the risk of acute lymphoblastic leukemia (ALL). Studies examining the associations between these two polymorphisms and ALL susceptibility drew inconsistent results. To obtain a reliable conclusion...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2012.0184
更新日期:2012-12-01 00:00:00
abstract:AIMS:The dopaminergic and endocannabinoid systems are involved in regulation of feeding behavior. The aim of the study is to examine the possible relation between polymorphisms of the dopamine D2 receptor (DRD2) and cannabinoid receptor-1 (CNR1) genes and childhood obesity. METHODS:A hundred obese children and 100 hea...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0244
更新日期:2012-12-01 00:00:00
abstract:BACKGROUND:+49A/G polymorphism of the cytotoxic T-lymphocyte-associated antigen-4 gene (CTLA-4) has been associated with type 1 diabetes (T1D). However, results were inconsistent. The aim of this study was to quantitatively summarize the evidence for CTLA-4 +49A/G polymorphism and T1D. METHODS:Electronic search of Pub...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,meta分析
doi:10.1089/gtmb.2012.0169
更新日期:2012-11-01 00:00:00
abstract:BACKGROUND:Cytogenetic biomarkers are most frequently used well-established endpoints in human population studies with their sensitivity for measuring exposure to genotoxic agents. They have an important role as early predictors of cancer risk. Identification of individual genotypes of metabolic gene polymorphisms help...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0038
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND:Cytokines are a group of polypeptides with an important role in the inflammatory response. It has been suggested that certain polymorphisms located in several cytokine genes are associated with different diseases. The aim of the present study was to establish the gene frequency of 13 polymorphisms of the IL-...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0100
更新日期:2012-10-01 00:00:00
abstract:BACKGROUND:The distribution of polymorphisms in the CYP2D6 and CYP2C19 genes allows inferring the potential risk for specific adverse drug reactions and lack of therapeutic effects in humans. This variability shows differences among human populations. The aim of this study was to analyze single-nucleotide polymorphisms...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0055
更新日期:2012-09-01 00:00:00
abstract::Human papillomavirus (HPV) infection is estimated to be the most common sexually transmitted infection and is one of the causal factors in cervical cancer. Understanding the epidemiology of this infection is an important step toward developing strategies for its prevention. Cervical samples from 210 healthy women with...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0354
更新日期:2012-08-01 00:00:00
abstract::The genes involved in androgen pathway and metabolism have been reported to contribute considerably to prostate carcinoma (CaP) risk. The present study investigated the association of androgen receptor (AR), prostate-specific antigen (PSA or KLK3), and cytochrome P450 (CYP19) gene polymorphisms in CaP (n=105) and beni...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0322
更新日期:2012-08-01 00:00:00
abstract::Despite the knowledge of many genetic alterations present in ovarian cancer, the complexity of this disease precludes placing its biology into a simple conceptual framework. Lysyl oxidase (LOX) is an extracellular matrix enzyme that catalyzes the cross-linking of collagens or elastin in the extracellular compartment. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0374
更新日期:2012-08-01 00:00:00
abstract::Matrix metalloproteinases (MMPs) are a family of enzymes that degrade extracellular matrix components and are involved in the development and progression of cancer. Lung cancer is the most commonly diagnosed cancer in Lebanon. This study was undertaken to investigate the association between -1171(5A>6A) polymorphism i...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0042
更新日期:2012-08-01 00:00:00
abstract::Hereditary hemochromatosis is an inherited disorder of iron metabolism, characterized by high absorption of iron by the gastrointestinal tract leading to a toxic accumulation of iron in various organs and impaired organ function. Three variants in the HFE gene (p.C282Y, p.H63D, and p.S65C) are commonly associated with...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0204
更新日期:2012-07-01 00:00:00
abstract::Leptin is a key hormone of weight regulation that modulates food intake. Since the elaboration of the leptin action mechanism, several studies tried to establish the relationship between obesity and the common polymorphisms of leptin (LEP) and leptin receptor (LEPR) genes, but results were controversial. We studied th...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2011.0324
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0347
更新日期:2012-07-01 00:00:00
abstract::Molecular characterization of 27 cytogenetically confirmed Indian XY females was attempted by screening selected regions of candidate genes namely SRY (HMG box) and the ligand-binding domain of androgen receptor (AR) (Exons 5-8). Three of the index cases showed sequence variations in exons of the AR gene: a deletion m...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章,评审
doi:10.1089/gtmb.2011.0292
更新日期:2012-07-01 00:00:00
abstract:BACKGROUND:Cystic fibrosis (CF) is the most common inherited disorder in Caucasian populations, with more than 1400 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. The type of mutations and their distributions varies widely between different countries and/or ethnic groups. METHODS:We charact...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章
doi:10.1089/gtmb.2011.0283
更新日期:2012-07-01 00:00:00