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:BACKGROUND:Aberrant epigenetic profiles are concomitant with a spectrum of developmental defects and diseases. Role of methylation is an increasingly accepted factor in the pathophysiology of diabetes and its associated complications. This study aims to examine the correlation between oxidative stress and methylation o...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-29
更新日期:2014-05-30 00:00:00
abstract:BACKGROUND:2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-19
更新日期:2014-04-22 00:00:00
abstract:BACKGROUND:The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort. METHODS:Thirty-six measures were chosen from the PhenX Toolkit within the following domains: demographics; anthropometrics; alcohol, tobacco and ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-3
更新日期:2014-01-14 00:00:00
abstract:BACKGROUND:Prostate cancer is one of the most common complex diseases with high leading cause of death in men. Identifications of prostate cancer associated genes and biomarkers are thus essential as they can gain insights into the mechanisms underlying disease progression and advancing for early diagnosis and developi...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-7-S1-S3
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Currently, diagnosis of affected individuals with rare genetic disorders can be lengthy and costly, resulting in a diagnostic odyssey and in many patients a definitive molecular diagnosis is never achieved despite extensive clinical investigation. The recent advent and use of genomic medicine has resulted in...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-6-32
更新日期:2013-09-17 00:00:00
abstract:BACKGROUND:The collection of viable DNA samples is an essential element of any genetics research programme. Biological samples for DNA purification are now routinely collected in many studies with a variety of sampling methods available. Initial observation in this study suggested a reduced genotyping success rate of s...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-6-20
更新日期:2013-06-10 00:00:00
abstract:BACKGROUND:Images embedded in biomedical publications carry rich information that often concisely summarize key hypotheses adopted, methods employed, or results obtained in a published study. Therefore, they offer valuable clues for understanding main content in a biomedical publication. Prior studies have pointed out ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-6-S3-S8
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Understanding how genes are expressed specifically in particular tissues is a fundamental question in developmental biology. Many tissue-specific genes are involved in the pathogenesis of complex human diseases. However, experimental identification of tissue-specific genes is time consuming and difficult. Th...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-6-S1-S10
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Type 1 diabetes (T1D) is a complex disease and harmful to human health, and most of the existing biomarkers are mainly to measure the disease phenotype after the disease onset (or drastic deterioration). Until now, there is no effective biomarker which can predict the upcoming disease (or pre-disease state) ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-6-S2-S8
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Genes do not act in isolation but instead as part of complex regulatory networks. To understand how breast tumors adapt to the presence of the drug letrozole, at the molecular level, it is necessary to consider how the expression levels of genes in these networks change relative to one another. METHODS:Usin...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-6-S2-S2
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:The noninvasive prenatal diagnosis procedures that are currently used to detect genetic diseases do not achieve desirable levels of sensitivity and specificity. Recently, fetal methylated DNA biomarkers in maternal peripheral blood have been explored for the noninvasive prenatal detection of genetic disorder...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-5-26
更新日期:2012-06-18 00:00:00
abstract:BACKGROUND:The increasing trend for incorporation of biological sample collection within clinical trials requires sample collection procedures which are convenient and acceptable for both patients and clinicians. This study investigated the feasibility of using saliva-extracted DNA in comparison to blood-derived DNA, a...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-5-19
更新日期:2012-05-30 00:00:00
abstract:BACKGROUND:We explored the imputation performance of the program IMPUTE in an admixed sample from Mexico City. The following issues were evaluated: (a) the impact of different reference panels (HapMap vs. 1000 Genomes) on imputation; (b) potential differences in imputation performance between single-step vs. two-step (...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-5-12
更新日期:2012-05-01 00:00:00
abstract:BACKGROUND:Infant birth weight is a complex quantitative trait associated with both neonatal and long-term health outcomes. Numerous studies have been published in which candidate genes (IGF1, IGF2, IGF2R, IGF binding proteins, PHLDA2 and PLAGL1) have been associated with birth weight, but these studies are difficult t...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-5-10
更新日期:2012-04-12 00:00:00
abstract:BACKGROUND:To get insight into molecular mechanisms underlying insulin resistance, we compared acute in vivo effects of insulin on adipose tissue transcriptional profiles between obese insulin-resistant and lean insulin-sensitive women. METHODS:Subcutaneous adipose tissue biopsies were obtained before and after 3 and ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-5-9
更新日期:2012-04-03 00:00:00
abstract:BACKGROUND:Gene expression profiling has shown its ability to identify with high accuracy low cytogenetic risk acute myeloid leukemia such as acute promyelocytic leukemia and leukemias with t(8;21) or inv(16). The aim of this gene expression profiling study was to evaluate to what extent suboptimal samples with low leu...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-5-6
更新日期:2012-01-30 00:00:00
abstract:BACKGROUND:Insulin resistance (IR) is accompanied by chronic low grade systemic inflammation, obesity, and deregulation of total body energy homeostasis. We induced inflammation in adipose and liver tissues in vitro in order to mimic inflammation in vivo with the aim to identify tissue-specific processes implicated in ...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-71
更新日期:2011-10-06 00:00:00
abstract:BACKGROUND:Glioblastoma multiforme (GBM) tends to occur between the ages of 45 and 70. This relatively early onset and its poor prognosis make the impact of GBM on public health far greater than would be suggested by its relatively low frequency. Tissue and blood samples have now been collected for a number of populati...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-63
更新日期:2011-08-09 00:00:00
abstract:BACKGROUND:A molecular characterization of Alzheimer's Disease (AD) is the key to the identification of altered gene sets that lead to AD progression. We rely on the assumption that candidate marker genes for a given disease belong to specific pathogenic pathways, and we aim at unveiling those pathways stable across ti...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-55
更新日期:2011-07-05 00:00:00
abstract:BACKGROUND:Cancer cells are characterized by massive dysegulation of physiological cell functions with considerable disruption of transcriptional regulation. Genome-wide transcriptome profiling can be utilized for early detection and molecular classification of cancers. Accurate discrimination of functionally different...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-53
更新日期:2011-06-30 00:00:00
abstract:BACKGROUND:Glioblastoma is a complex multifactorial disorder that has swift and devastating consequences. Few genes have been consistently identified as prognostic biomarkers of glioblastoma survival. The goal of this study was to identify general and clinical-dependent biomarker genes and biological processes of three...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-49
更新日期:2011-06-07 00:00:00
abstract:BACKGROUND:The zebrafish is recognized as a versatile cancer and drug screening model. However, it is not known whether the estrogen-responsive genes and signaling pathways that are involved in estrogen-dependent carcinogenesis and human cancer are operating in zebrafish. In order to determine the potential of zebrafis...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-41
更新日期:2011-05-16 00:00:00
abstract:BACKGROUND:Diabetic retinopathy (DR) is a leading cause of blindness in working age adults. Approximately 95% of patients with Type 1 diabetes develop some degree of retinopathy within 25 years of diagnosis despite normalization of blood glucose by insulin therapy. The goal of this study was to identify molecular chang...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-40
更新日期:2011-05-15 00:00:00
abstract:BACKGROUND:Neuroblastoma (NB) tumors are well known for their pronounced clinical and molecular heterogeneity. The global gene expression and DNA copy number alterations have been shown to have profound differences in tumors of low or high stage and those with or without MYCN amplification. RNA splicing is an important...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-35
更新日期:2011-04-18 00:00:00
abstract:BACKGROUND:Cancer shows a great diversity in its clinical behavior which cannot be easily predicted using the currently available clinical or pathological markers. The identification of pathways associated with lymph node metastasis (N+) and recurrent head and neck squamous cell carcinoma (HNSCC) may increase our under...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-33
更新日期:2011-04-13 00:00:00
abstract:BACKGROUND:Postmenopausal hormone therapy (HT) influences endogenous hormone concentrations and increases the risk of breast cancer. Gene expression profiling may reveal the mechanisms behind this relationship.Our objective was to explore potential associations between sex hormones and gene expression in whole blood fr...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-29
更新日期:2011-03-31 00:00:00
abstract:BACKGROUND:Alterations in gene expression in peripheral blood cells have been shown to be sensitive to the presence and extent of coronary artery disease (CAD). A non-invasive blood test that could reliably assess obstructive CAD likelihood would have diagnostic utility. RESULTS:Microarray analysis of RNA samples from...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-26
更新日期:2011-03-28 00:00:00
abstract:BACKGROUND:Uric acid is the primary byproduct of purine metabolism. Hyperuricemia is associated with body mass index (BMI), sex, and multiple complex diseases including gout, hypertension (HTN), renal disease, and type 2 diabetes (T2D). Multiple genome-wide association studies (GWAS) in individuals of European ancestry...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-4-17
更新日期:2011-02-04 00:00:00
abstract:BACKGROUND:Germline mutations in the folliculin (FLCN) gene are associated with the development of Birt-Hogg-Dubé syndrome (BHDS), a disease characterized by papular skin lesions, a high occurrence of spontaneous pneumothorax, and the development of renal neoplasias. The majority of renal tumors that arise in BHDS-affe...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-59
更新日期:2010-12-16 00:00:00
abstract:BACKGROUND:Urothelial carcinoma (UC) can arise at any location along the urothelial tract, including the urethra, bladder, ureter, or renal pelvis. Although tumors arising in these various locations have similar morphology, it is unclear whether the gene expression profiles are similar between the upper-tract (ureter a...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-58
更新日期:2010-12-15 00:00:00
abstract:BACKGROUND:According to the Genetic Analysis Workshops (GAW), hundreds of thousands of SNPs have been tested for association with rheumatoid arthritis. Traditional genome-wide association studies (GWAS) have been developed to identify susceptibility genes using a "most significant SNPs/genes" model. However, many minor...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-38
更新日期:2010-08-20 00:00:00
abstract:BACKGROUND:Genomic copy number alterations are widely associated with a broad range of human tumors and offer the potential to be used as a diagnostic tool. Especially in the emerging era of personalized medicine medical informatics tools that allow the fast visualization and analysis of genomic alterations of a patien...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-11
更新日期:2010-04-09 00:00:00
abstract:BACKGROUND:Current prostate cancer prognostic models are based on pre-treatment prostate specific antigen (PSA) levels, biopsy Gleason score, and clinical staging but in practice are inadequate to accurately predict disease progression. Hence, we sought to develop a molecular panel for prostate cancer progression by re...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-8
更新日期:2010-03-16 00:00:00
abstract:BACKGROUND:Childhood leukemia is characterized by the presence of balanced chromosomal translocations or by other structural or numerical chromosomal changes. It is well know that leukemias with specific molecular abnormalities display profoundly different global gene expression profiles. However, it is largely unknown...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-6
更新日期:2010-03-08 00:00:00
abstract:BACKGROUND:Prevalence of obesity is increasing to pandemic proportions. However, obese subjects differ in insulin resistance, adipokine production and co-morbidities. Based on fasting plasma analysis, obese subjects were grouped as Low Acylation Stimulating protein (ASP) and Triglyceride (TG) (LAT) vs High ASP and TG (...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-3
更新日期:2010-01-27 00:00:00
abstract:BACKGROUND:Acute erythro- and megakaryoblastic leukaemias are associated with very poor prognoses and the mechanism of blastic transformation is insufficiently elucidated. The murine Graffi leukaemia retrovirus induces erythro- and megakaryoblastic leukaemias when inoculated into NFS mice and represents a good model to...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-3-2
更新日期:2010-01-26 00:00:00
abstract:BACKGROUND:In addition to their well-documented ocular therapeutic effects, glucocorticoids (GCs) can cause sight-threatening side-effects including ocular hypertension presumably via morphological and biochemical changes in trabecular meshwork (TM) cells. In the present study, we directly compared the glucocorticoid r...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-2-58
更新日期:2009-09-10 00:00:00
abstract:BACKGROUND:Gene expression studies require appropriate normalization methods. One such method uses stably expressed reference genes. Since suitable reference genes appear to be unique for each tissue, we have identified an optimal set of the most stably expressed genes in human blood that can be used for normalization....
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-2-49
更新日期:2009-08-05 00:00:00
abstract:BACKGROUND:The HIV viral genome mutates at a high rate and poses a significant long term health risk even in the presence of combination antiretroviral therapy. Current methods for predicting a patient's response to therapy rely on site-directed mutagenesis experiments and in vitro resistance assays. In this bioinforma...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-2-47
更新日期:2009-07-23 00:00:00
abstract:BACKGROUND:Host protein-protein interaction networks are altered by invading virus proteins, which create new interactions, and modify or destroy others. The resulting network topology favors excessive amounts of virus production in a stressed host cell network. Short linear peptide motifs common to both virus and host...
journal_title:BMC medical genomics
pub_type: 杂志文章
doi:10.1186/1755-8794-2-27
更新日期:2009-05-18 00:00:00