Abstract:
:The decade since the publication of the Human Genome Project draft has ended with the discovery of hundreds of genomic markers related to diseases and phenotypes. However, the project has not yet delivered on its promise to tailor treatments for individuals. The number of genomic markers in clinical practice is very small. The number of markers to guide treatment decisions is even smaller. In order to speed up discovery and validation of genomic treatment selection markers, we call for considering the brilliant potential of randomized clinical trials. If biomedical research community can collaborate in organizing large-scale consortium of clinical trials associated with well-designed biobanks, these studies would soon act as huge laboratories for investigating genomic medicine; a big step forward towards personalizing medicine.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Tajik P,Bossuyt PMdoi
10.1007/s00439-011-0986-9subject
Has Abstractpub_date
2011-07-01 00:00:00pages
15-8issue
1eissn
0340-6717issn
1432-1203journal_volume
130pub_type
杂志文章相关文献
HUMAN GENETICS文献大全abstract::The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390000350
更新日期:2000-09-01 00:00:00
abstract::In human females, both X chromosomes are equivalent in size and genetic content, and pairing and recombination can theoretically occur anywhere along their entire length. In human males, however, only small regions of sequence identity exist between the sex chromosomes. Recombination and genetic exchange is restricted...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF01247327
更新日期:1993-10-01 00:00:00
abstract::Ectodermal dysplasia syndromes are genetically heterogeneous group of disorders involving one or more of the classical ectodermal appendages (hair, nail, teeth, sweat glands) in association with anomalies of other organs or systems. In the present study a novel form of ectodermal dysplasia syndrome, ectodermal dysplas...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0640-y
更新日期:2009-05-01 00:00:00
abstract::Ehlers-Danlos syndrome (EDS) type I is a generalized connective tissue disorder, the major manifestations of which are soft, velvety hyperextensible skin and moderately severe joint hypermobility. The gene defect or defects causing EDS type I have not yet been defined, but previous observations suggested that the synd...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00206058
更新日期:1991-12-01 00:00:00
abstract::This review is based on a thorough description of the structure and sequence organization of tandemly organized repetitive DNA sequence families in the human genome; it is aimed at revealing the locus-specific sequence organization of tandemly repetitive sequence structures as a highly conserved DNA sequence code. The...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00196228
更新日期:1990-03-01 00:00:00
abstract::Air pollution is recognized as causal factor for cardiovascular disease (CVD) and is associated with multiple CVD risk factors. Substantial research effort has been invested in understanding the linkages between genetic variation and CVD risk, resulting in over 50 CVD-associated genetic loci. More recently, gene-air p...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-019-02004-w
更新日期:2019-06-01 00:00:00
abstract::The effect of the enzymes phospholipases C and D on Factor VIII were investigated. Phospholipase D was found to activate the partially purified intact Factor-VIII molecule maximally at a final concentration of 0.6 U/ml. Neither the dissociated small molecular weight component nor the high molecular weight component we...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00272299
更新日期:1978-01-19 00:00:00
abstract::Recently the defective gene locus in seven Caucasian families with the Romano-Ward form of long QT syndrome (LQT) has been mapped to chromosome 11p. To understand the molecular basis of LQT in Chinese, a three-generation family was investigated. Fourteen family members were studied and five individuals were diagnosed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201594
更新日期:1994-10-01 00:00:00
abstract::In the Original article published, the figure number 5: Genomic distribution of ROH is incorrectly published. The correct figure is given below. ...
journal_title:Human genetics
pub_type: 已发布勘误
doi:10.1007/s00439-019-02053-1
更新日期:2019-10-01 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::In situ hybridization using a probe specific for the human ZFX and ZFY loci assigns the ZFX gene to Xp21.3 and the ZFY gene to Yp11.32. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00288279
更新日期:1989-04-01 00:00:00
abstract::Metabolic syndrome is a complex human disorder characterized by a cluster of conditions (increased blood pressure, hyperglycemia, excessive body fat around the waist, and abnormal cholesterol or triglyceride levels). Any of these conditions increases the risk of serious disorders such as diabetes or cardiovascular dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-019-02024-6
更新日期:2019-07-01 00:00:00
abstract::Male identical twins with r(18)/normal mosaicism are reported. Twin 1 has the characteristic manifestations of the r(18) syndrome, but twin 2 shows a normal phenotype. Cytogenetic study of cultured lymphocytes revealed that the proportions of r(18) are 19.7% and 19.2%, respectively. However in the fibroblast cultures,...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00304559
更新日期:1982-01-01 00:00:00
abstract::A Taq1 polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accur...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00191816
更新日期:1995-10-01 00:00:00
abstract::Optic atrophy type 1 (OPA1, MIM 165500) is a dominantly inherited optic neuropathy that features low visual acuity leading in many cases to legal blindness. We have recently shown, with others, that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein, underlie the dominant form of optic atrophy...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-001-0633-y
更新日期:2001-12-01 00:00:00
abstract::The staining properties of AT-specific dyes Hoechst 33342 and DAPI as revealed by Hoechst 33342/mithramycin and mithramycin/DAPI bivariate human flow karyotype patterns are different for chromosomes rich in heterochromatin. The peak corresponding to chromosome Y of a given cell line is higher on the A/T axis with mith...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00286716
更新日期:1989-09-01 00:00:00
abstract::A myeloblastin/proteinase-3 (MBN/PR-3) cDNA probe detects two bi-allelic (BglII, PvuII) DNA polymorphisms. These restriction fragment length polymorphisms provide new genetic markers on chromosome 19. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00216465
更新日期:1993-11-01 00:00:00
abstract::We tested 190 chromosomes from Dutch cystic fibrosis (CF) patients and carriers for the presence or absence of the major CF mutation delta F508. This mutation was found on 77% of the Dutch CF chromosomes. We observed a significant difference in the distribution of the ages at diagnosis between homozygotes for delta F5...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02428281
更新日期:1990-09-01 00:00:00
abstract::As the ability to measure dense genetic markers approaches the limit of the DNA sequence itself, taking advantage of possible clustering of genetic variants in, and around, a gene would benefit genetic association analyses, and likely provide biological insights. The greatest benefit might be realized when multiple ra...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-013-1335-y
更新日期:2013-11-01 00:00:00
abstract::Molecular characterization of the alpha-thalassemia mutations present in nine HbH subjects from Cuba was achieved by digestion with Bam HI, Bgl II, and Apa I and hybridization with alpha- and zeta-specific probes. The results show that the molecular basis of the genetic defect is quite homogeneous, all the subjects ca...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00290956
更新日期:1986-04-01 00:00:00
abstract::The Duffy blood group system consists of three alleles, FYA, FYB, and FY. To study the molecular evolution of the three alleles, we established the polymorphism of a dinucleotide (GT) repeat sequence (designated FyGT/C) in the 3' flanking region of the Duffy gene, and studied the relationship between FyGT/C and Duffy ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050408
更新日期:1997-05-01 00:00:00
abstract::During the last few years, much progress has been made in the treatment of lysosomal storage disorders. In the past, no specific therapy was available for the affected patients, and management consisted solely of supportive care and treatment of complications. Since enzyme replacement therapy has been successfully int...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-006-0280-4
更新日期:2007-03-01 00:00:00
abstract::Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-018-1935-7
更新日期:2019-09-01 00:00:00
abstract::Different populations suffer from different rates of obesity and type-2 diabetes (T2D). Little is known about the genetic or adaptive component, if any, that underlies these differences. Given the cultural, geographic, and dietary variation that accumulated among humans over the last 60,000 years, we examined whether ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-010-0935-z
更新日期:2011-04-01 00:00:00
abstract::Extensive studies have been conducted on the analysis of genome function, especially on the expression quantitative trait loci (eQTL). These studies offered promising results for characterization of the functional sequencing variation and understanding of the basic processes of gene regulation. Parent of origin effect...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-020-02162-2
更新日期:2020-08-01 00:00:00
abstract::Increasing experimental evidence supports a connection between inflammation and mitochondrial dysfunction. Both acute and chronic inflammatory diseases course with elevated free radicals production that may affect mitochondrial proteins, lipids, and mtDNA. The subsequent mitochondrial impairment produces more reactive...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s00439-011-1057-y
更新日期:2012-02-01 00:00:00
abstract::Thirty-nine recombinants isolated from a Y chromosome-specific library were deletion mapped. Seven deletion intervals were defined by hybridization of probes to DNA of eight individuals with aberrant Y chromosomes. Extreme cytogenetic limits of the deletion intervals were determined by in situ hybridization of one pro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00193197
更新日期:1990-07-01 00:00:00
abstract::Referring to the mutational theory of carcinogenesis in embryonal tumors, it is commonly accepted that patients with multifocal tumors are hereditary cases. This is based on the implicit assumption that each tumor results from a single mutational event occurring in a cell that has already inherited a mutation, and tha...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217359
更新日期:1993-05-01 00:00:00
abstract::A Monte Carlo simulation procedure was used to estimate the exact level of the standardized X2 test statistic (Xs2) for randomness in the FSM methodology for the identification of fragile sites from chromosomal breakage data for single individuals. A random-number generator was used to simulate 10,000 chromosomal brea...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050596
更新日期:1997-11-01 00:00:00
abstract::While liability to schizophrenia (Scz) is due to genetic and environmental factors, specific factors are largely unknown. We postulate a two-hit model for Scz, in which initial liability is generated during fetal brain development: this "hit" is precipitated by environmental stressors biologically interacting with mat...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-007-0358-7
更新日期:2007-07-01 00:00:00