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::Whole genome sequencing (WGS) was performed to identify the variants responsible for inherited retinal degeneration (IRD) in a Caucasian family. Segregation analysis of selected rare variants with pathogenic potential identified a set of compound heterozygous changes p.Arg266*:c.796C>T and p.Ala568Thr:c.1702G>A in the...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1897-9
更新日期:2018-07-01 00:00:00
abstract::While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here, we report a loss-of-function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosomal recessive nonsy...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1901-4
更新日期:2018-07-01 00:00:00
abstract::Unraveling the causes and pathomechanisms of progressive disorders is essential for the development of therapeutic strategies. Here, we identified heterozygous pathogenic missense variants of LMX1A in two families of Dutch origin with progressive nonsyndromic hearing impairment (HI), using whole exome sequencing. One ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1880-5
更新日期:2018-05-01 00:00:00
abstract::Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1889-9
更新日期:2018-05-01 00:00:00
abstract::Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1885-0
更新日期:2018-04-01 00:00:00
abstract::Deletion and truncation mutations in the X-linked gene CASK are associated with severe intellectual disability (ID), microcephaly and pontine and cerebellar hypoplasia in girls (MICPCH). The molecular origin of CASK-linked MICPCH is presumed to be due to disruption of the CASK-Tbr-1 interaction. This hypothesis, howev...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-018-1874-3
更新日期:2018-03-01 00:00:00
abstract::Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. Most existing HB gene therapies are based on viral mediated gene supplementation, which could increase immunoreaction. In this study, CRISPR/Cas9 system was used for gene correctio...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1801-z
更新日期:2017-07-01 00:00:00
abstract::Statistical tests for Hardy-Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data. In this paper, we analyze complete chromosomes of the 1000 genomes project by using exact test procedures for autosomal...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1786-7
更新日期:2017-06-01 00:00:00
abstract::The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in o...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1779-6
更新日期:2017-06-01 00:00:00
abstract::Several single-gene disorders with clinical and radiological characteristics similar to those observed in multiple sclerosis (MS) patients have been described. To evaluate whether this phenotypic overlap can be ascribed to a common genetic etiology, 28 genes known to present pathogenic mutations for 24 of these disord...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1784-9
更新日期:2017-06-01 00:00:00
abstract::The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short t...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1776-9
更新日期:2017-05-01 00:00:00
abstract::We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phylogeny incorporating South Asian (in total 305 individuals) and worldwide (in total 1286 individuals) data fro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-017-1800-0
更新日期:2017-05-01 00:00:00
abstract::High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the wor...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1773-z
更新日期:2017-05-01 00:00:00
abstract::The most frequent recurring mutations in neurofibromatosis type 1 (NF1) are large deletions encompassing the NF1 gene and its flanking regions (NF1 microdeletions). The majority of these deletions encompass 1.4-Mb and are associated with the loss of 14 protein-coding genes and four microRNA genes. Patients with germli...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-017-1766-y
更新日期:2017-04-01 00:00:00
abstract::The Tai-Kadai (TK) language family is thought to have originated in southern China and spread to Thailand and Laos, but it is not clear if TK languages spread by demic diffusion (i.e., a migration of people from southern China) or by cultural diffusion, with native Austroasiatic (AA) speakers switching to TK languages...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1742-y
更新日期:2017-01-01 00:00:00
abstract::Genetic isolates provide unprecedented opportunities to identify pathogenic mutations and explore the full natural history of clinically heterogeneous phenotypes such as hearing loss. We noticed a unique audioprofile, characterized by prelingual and rapid deterioration of hearing thresholds at frequencies >0.5 kHz in ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1746-7
更新日期:2017-01-01 00:00:00
abstract::Distal hereditary motor neuropathies predominantly affect the motor neurons of the peripheral nervous system leading to chronic disability. Using whole genome sequencing (WGS) we have identified a novel structural variation (SV) within the distal hereditary motor neuropathy locus on chromosome 7q34-q36.2 (DHMN1). The ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1720-4
更新日期:2016-11-01 00:00:00
abstract::Genome-wide association studies (GWAS) have had a tremendous success in the identification of common DNA sequence variants associated with complex human diseases and traits. However, because of their design, GWAS are largely inappropriate to characterize the role of rare and low-frequency DNA variants on human phenoty...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1702-6
更新日期:2016-11-01 00:00:00
abstract::Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including intellectual disabilities. We have performed WES for 4102 (1847 female; 2255 male) intellectual disability/developmental delay cases and we report five patients with ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1661-y
更新日期:2016-07-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified a large number of disease-associated SNPs, but in few cases the functional variant and the gene it controls have been identified. To systematically identify candidate regulatory variants, we sequenced ENCODE cell lines and used public ChIP-seq data to look for tra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1654-x
更新日期:2016-05-01 00:00:00
abstract::Therapeutic interventions that lower LDL-cholesterol effectively reduce the risk of coronary artery disease (CAD). However, statins, the most widely prescribed LDL-cholesterol lowering drugs, increase diabetes risk. We used genome-wide association study (GWAS) data in the public domain to investigate the relationship ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1647-9
更新日期:2016-05-01 00:00:00
abstract::Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-016-1638-x
更新日期:2016-04-01 00:00:00
abstract::There are two very different interpretations of the prehistory of Island Southeast Asia (ISEA), with genetic evidence invoked in support of both. The "out-of-Taiwan" model proposes a major Late Holocene expansion of Neolithic Austronesian speakers from Taiwan. An alternative, proposing that Late Glacial/postglacial se...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1620-z
更新日期:2016-03-01 00:00:00
abstract::We identified eight candidate thinness predisposition variants from the Illumina HumanExome chip genotyped on members of pedigrees selected for either healthy thinness or severe obesity. For validation, we tested the candidates for association with healthy thinness in additional pedigree members while accounting for e...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1629-3
更新日期:2016-02-01 00:00:00
abstract::Assigning a pathogenic role to mitochondrial DNA (mtDNA) variants and unveiling the potential involvement of the mitochondrial genome in diseases are challenging tasks in human medicine. Assuming that rare variants are more likely to be damaging, we designed a phylogeny-based prioritization workflow to obtain a reliab...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1615-9
更新日期:2016-01-01 00:00:00
abstract::Multiple sclerosis (MS) is a common complex neurodegenerative disease of the central nervous system. It develops with autoimmune inflammation and demyelination. Genome-wide association studies (GWASs) serve as a powerful tool for investigating the genetic architecture of MS and are generally used to identify the genet...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-015-1601-2
更新日期:2015-11-01 00:00:00
abstract::GTF2IRD1 is one of the three members of the GTF2I gene family, clustered on chromosome 7 within a 1.8 Mb region that is prone to duplications and deletions in humans. Hemizygous deletions cause Williams-Beuren syndrome (WBS) and duplications cause WBS duplication syndrome. These copy number variations disturb a variet...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1591-0
更新日期:2015-10-01 00:00:00
abstract::The Great Lakes lie within a region of East Africa with very high human genetic diversity, home of many ethno-linguistic groups usually assumed to be the product of a small number of major dispersals. However, our knowledge of these dispersals relies primarily on the inferences of historical, linguistics and oral trad...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1583-0
更新日期:2015-09-01 00:00:00
abstract::Clinical exome sequencing (CES) has become an increasingly popular diagnostic tool in patients with heterogeneous genetic disorders, especially in those with neurocognitive phenotypes. Utility of CES in consanguineous populations has not yet been determined on a large scale. A clinical cohort of 149 probands from Qata...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-015-1575-0
更新日期:2015-09-01 00:00:00
abstract::Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during chi...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-014-1514-5
更新日期:2015-06-01 00:00:00
abstract::Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. ...
journal_title:Human genetics
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1007/s00439-015-1535-8
更新日期:2015-06-01 00:00:00
abstract::Genetic syndromes involving both brain and eye abnormalities are numerous and include syndromes such as Warburg micro syndrome, Kaufman oculocerebrofacial syndrome, Cerebro-oculo-facio-skeletal syndrome, Kahrizi syndrome and others. Using exome sequencing, we have been able to identify homozygous mutation p.(Tyr39Cys)...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-015-1541-x
更新日期:2015-06-01 00:00:00
abstract::Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1526-1
更新日期:2015-03-01 00:00:00
abstract::To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 yea...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-014-1500-y
更新日期:2015-02-01 00:00:00
abstract::Copy number variation has emerged as an important cause of phenotypic variation, particularly in relation to some complex disorders. Autism spectrum disorder (ASD) is one such disorder, in which evidence is emerging for an etiological role for some rare penetrant de novo and rare inherited copy number variants (CNVs)....
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1513-6
更新日期:2015-02-01 00:00:00
abstract::We previously identified a low-frequency (1.1 %) coding variant (G45R; rs200573126) in the adiponectin gene (ADIPOQ) which was the basis for a multipoint microsatellite linkage signal (LOD = 8.2) for plasma adiponectin levels in Hispanic families. We have empirically evaluated the ability of data from targeted common ...
journal_title:Human genetics
pub_type: 临床试验,杂志文章
doi:10.1007/s00439-014-1511-8
更新日期:2015-02-01 00:00:00
abstract::We propose a Bayesian hierarchical mixture model framework that allows us to investigate the genetic and environmental effects, gene by gene interactions and gene by environment interactions in the same model. Our approach incorporates the natural hierarchical structure between the main effects and interaction effects...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1478-5
更新日期:2015-01-01 00:00:00
abstract::Schizophrenia (SCZ) is a severe psychiatric illness with a lifetime prevalence of 0.4 %. A disturbance of energy metabolism has been suggested as part of the etiopathogenesis of the disorder. Several lines of evidence have proposed a connection between etiopathogenesis of SCZ and human brain evolution, which was chara...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-014-1491-8
更新日期:2015-01-01 00:00:00
abstract::Rubella virus causes a relatively benign disease in most cases, although infection during pregnancy can result in serious birth defects. An effective vaccine has been available since the early 1970s and outbreaks typically do not occur among highly vaccinated (≥2 doses) populations. Nevertheless, considerable inter-in...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-014-1471-z
更新日期:2014-11-01 00:00:00
abstract::Xq28 microduplications of MECP2 are a prominent cause of a severe syndromic form of intellectual disability (ID) in males. Females are usually unaffected through near to complete X-inactivation of the aberrant X chromosome (skewing). In rare cases, affected females have been described due to random X-inactivation. Her...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1469-6
更新日期:2014-11-01 00:00:00