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:INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12397
更新日期:2020-11-01 00:00:00
abstract::The human dopamine transporter (hDAT) participates in dopamine homeostasis by clearing dopamine from the extracellular space using secondary active transport. Dysregulation of hDAT has been reported to be associated with different neuropsychiatric disorders. Dopamine transporter deficiency syndrome (DTDS) is a complex...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12378
更新日期:2020-07-01 00:00:00
abstract::Increased levels of fetal hemoglobin (HbF: α2γ2) can ameliorate the clinical severity of the β-hemoglobinopathies. Microarray analysis represents a powerful approach to identify novel genetic factors regulating the γ-globin gene. Gene expression profiling was previously performed on 14 individuals with high or normal ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12346
更新日期:2020-01-01 00:00:00
abstract::The medieval history of several populations often suffers from scarcity of contemporary records resulting in contradictory and sometimes biased interpretations by historians. This is the situation with the population of the island of Crete, which remained relatively undisturbed until the Middle Ages when multiple wars...
journal_title:Annals of human genetics
pub_type: 历史文章,杂志文章
doi:10.1111/ahg.12328
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:Preeclampsia (PE) is a life-threatening complication of pregnancy that accounts for 12% of all maternal deaths worldwide. The aim of this study is to investigate the relationships between the polymorphisms of angiotensinogen (AGT) gene and preeclampsia. MATERIAL AND METHODS:In this study, 240 unrelated preec...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12323
更新日期:2019-11-01 00:00:00
abstract:INTRODUCTION:Limb-girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because of this, the use of high-throughput methods such as next-generation sequencing (NGS) is importa...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12319
更新日期:2019-09-01 00:00:00
abstract:BACKGROUND:The association between interleukin-10 (IL-10)-1082 (-1087) A > G polymorphism and either chronic (CP) or aggressive periodontitis (AgP) susceptibility was conflicting. This meta-analysis aimed to quantitatively estimate the association. METHODS:Pubmed, Embase, Web of Science, and WANFAN databases were sear...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12321
更新日期:2019-09-01 00:00:00
abstract::Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977-bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtD...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12303
更新日期:2019-07-01 00:00:00
abstract::Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q1...
journal_title:Annals of human genetics
pub_type: 杂志文章,评审
doi:10.1111/ahg.12284
更新日期:2019-01-01 00:00:00
abstract::Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clini...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12278
更新日期:2018-11-01 00:00:00
abstract::Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12262
更新日期:2018-11-01 00:00:00
abstract::In recent years, there have been an increasing number of genetic variants associated with athletic phenotypes. Here, we selected a set of sports-relevant polymorphisms that have been previously suggested as genetic markers for human physical performance, and we examined their association with athletic status in a larg...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12248
更新日期:2018-09-01 00:00:00
abstract::Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12241
更新日期:2018-07-01 00:00:00
abstract::Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is further complicated ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12220
更新日期:2018-01-01 00:00:00
abstract::Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger seque...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12206
更新日期:2017-11-01 00:00:00
abstract::Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12208
更新日期:2017-11-01 00:00:00
abstract::Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect of diverse ATXN7 cis-element in correlation with CAG expansion mutation of SCA7. We initially performed an analysis to identify the ha...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12200
更新日期:2017-09-01 00:00:00
abstract:BACKGROUND AND PURPOSE:Individuals with slow N-acetylation phenotype often experience toxicity from drugs such as isoniazid, sulfonamides, procainamide, and hydralazine, whereas rapid acetylators may not respond to these medications. The highly polymorphic N-acetyltransferase 2 enzyme encoded by the NAT2 gene is one of...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12198
更新日期:2017-09-01 00:00:00
abstract::Nitric oxide is an important antiatherosclerotic agent. The main determinant of nitric oxide levels is enzyme nitric oxide synthase encoded by the NOS3 gene, the common variants in this gene may be responsible for variations in plasma enzyme levels. The association of NOS3 variants with coronary artery disease (CAD) v...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12192
更新日期:2017-07-01 00:00:00
abstract::We analyzed commonly reported European and Asian obesity-related gene variants in a Mexican-Mestizo population through each single nucleotide polymorphism (SNP) and a genetic risk score (GRS) based on 23 selected SNPs. Study subjects were physically active Mexican-Mestizo adults (n = 608) with body mass index (BMI) ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12190
更新日期:2017-05-01 00:00:00
abstract::Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to stud...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12187
更新日期:2017-03-01 00:00:00
abstract::Glycated hemoglobin (HbA1c) is used to classify glycaemia and type 2 diabetes (T2D). Body mass index (BMI) is a predictor of HbA1c levels and T2D. We tested 43 established BMI and obesity loci for association with HbA1c in a nationally representative multiethnic sample of young adults from the National Longitudinal St...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12165
更新日期:2016-09-01 00:00:00
abstract::The joint analysis of multiple traits has recently become popular since it can increase statistical power to detect genetic variants and there is increasing evidence showing that pleiotropy is a widespread phenomenon in complex diseases. Currently, the majority of existing methods for the joint analysis of multiple tr...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12149
更新日期:2016-05-01 00:00:00
abstract::Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12116
更新日期:2015-07-01 00:00:00
abstract::A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12096
更新日期:2015-03-01 00:00:00
abstract::Traditional quantitative trait locus (QTL) analysis focuses on identifying loci associated with mean heterogeneity. Recent research has discovered loci associated with phenotype variance heterogeneity (vQTL), which is important in studying genetic association with complex traits, especially for identifying gene-gene a...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12089
更新日期:2015-01-01 00:00:00
abstract::We estimate the population genetics parameter FST (also referred to as the fixation index) from short tandem repeat (STR) allele frequencies, comparing many worldwide human subpopulations at approximately the national level with continental-scale populations. FST is commonly used to measure population differentiation,...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12081
更新日期:2014-11-01 00:00:00
abstract::Numerous functional studies have implicated PARL in relation to type 2 diabetes (T2D). We hypothesised that conflicting human association studies may be due to neighbouring causal variants being in linkage disequilibrium (LD) with PARL. We conducted a comprehensive candidate gene study of the extended LD genomic regio...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12072
更新日期:2014-09-01 00:00:00
abstract::This palaeogenetic study focused on the analysis of a late prehispanic Argentinean group from the Humahuaca valley, with the main aim of reconstructing its (micro)evolutionary history. The Humahuaca valley, a natural passageway from the eastern plains to the highlands, was the living environment of Andean societies wh...
journal_title:Annals of human genetics
pub_type: 历史文章,杂志文章
doi:10.1111/ahg.12075
更新日期:2014-09-01 00:00:00
abstract::Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the exp...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12065
更新日期:2014-07-01 00:00:00
abstract::Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis-driven study was designed to determine if specific SNPs in genes related to stress response are associated with heroin and/or cocaine addiction in African Americans. The analysis included ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12064
更新日期:2014-07-01 00:00:00
abstract::For characterizing the genetic mechanisms of complex diseases familial data with multiple correlated quantitative traits are usually collected in genetic studies. To analyze such data, various multivariate tests have been proposed to investigate the association between the underlying disease genes and the multiple tra...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12054
更新日期:2014-03-01 00:00:00
abstract::We aimed to evaluate the effect of four common variants (rs2237892, rs2283228, rs2237895, and rs2237897) in KCNQ1 on susceptibility of type 2 diabetes (T2D) by performing a case-control study as well as a comprehensive meta-analysis. We genotyped these four variants in two sets of Chinese Han population, comprising a ...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12029
更新日期:2013-09-01 00:00:00
abstract::We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD). We determined the repeat size in a total of 889 clinically ascertained patients (including PD and essential tremor plus Pa...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12033
更新日期:2013-09-01 00:00:00
abstract::The human population is heterogeneous in genetic susceptibility, chromosomal instability and disease risk; all factors which depend on inherited genetic constitution and acquired nongenetic environmental and occupational factors. Recently, special attention has been directed to the identification of sources of potenti...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12019
更新日期:2013-07-01 00:00:00
abstract::The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO,...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12016
更新日期:2013-05-01 00:00:00
abstract::Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented. DNA of eight unrelated individuals wit...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00735.x
更新日期:2013-01-01 00:00:00
abstract::Using genetic data from an obesity candidate gene study of self-reported African Americans and European Americans, we investigated the number of Ancestry Informative Markers (AIMs) and candidate gene SNPs necessary to infer continental ancestry. Proportions of African and European ancestry were assessed with STRUCTURE...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00738.x
更新日期:2013-01-01 00:00:00
abstract::Testing multiple markers simultaneously not only can capture the linkage disequilibrium patterns but also can decrease the number of tests and thus alleviate the multiple-testing penalty. If a gene is associated with a phenotype, subjects with similar genotypes in this gene should also have similar phenotypes. Based o...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00706.x
更新日期:2012-05-01 00:00:00
abstract::Primary ciliary dyskinesia (PCD) is a genetic disorder, usually autosomal recessive, causing early respiratory disease and later subfertility. Whole exome sequencing may enable efficient analysis for locus heterogeneous disorders such as PCD. We whole-exome-sequenced one consanguineous Saudi Arabian with clinically di...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00704.x
更新日期:2012-05-01 00:00:00