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Welcome to the Pubget Medical Subject Headings (MESH) browser. Click on a topic or subtopic below to explore related papers. In the gold box is the most recent paper about the current MESH term, and below are 20 related papers.
Genetics, Medical (1):
Recent article
Genetics, Medical
Abstract
We present GenotypeChecker, a desktop software tool for assisting data cleansing. The application identifies likely data errors in pedigree/genotype data sets by performing an inheritance-checking algorithm for each marker across the pedigree, and highlights inconsistently inherited genotypes in an...
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PMID: 21906109
PDF is available here.
PDF is available here.
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Abstract
Inbreeding depression and heterosis are the two ends of phenotypic changes defined by the genome-wide homozygosity. The aim of this study was to investigate the association of genetic marker-based homozygosity estimates with 46 N-glycan features measured in human plasma. The study wa...
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PMID: 21487732
PDF is available here.
PDF is available here.
Abstract
We discuss the recent findings on telomerase regulation, focusing on epigenetics and non-coding RNAs regulation of telomerase, such as microRNAs and the recently discovered telomeric-repeat containing RNA transcripts. Human genetic disorders that develop due to mutations in telomerase subunits, the...
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PMID: 21323862
PDF is available here.
PDF is available here.
Abstract
Abstract
We sampled 296 individuals from 13 worldwide populations that are not covered by previous studies. By combining these samples with a data set from our laboratory and the HapMap II samples, we assembled a final dataset of ~250,000 SNPs in 850 individuals from 40 populations. With more uniform samplin...
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PMID: 20643205
PDF is available here.
PDF is available here.
Nature Reviews: Genetics (11)9 2010
Abstract
Genetics in Medicine (12)8 2010
Abstract
Genetics in Medicine (12)8 2010
Abstract
Abstract
Abstract
We also discuss the future directions in the field and their impacts on next generation genome-wide association studies....
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PMID: 20485443
PDF is available here.
PDF is available here.
Abstract
Abstract
Abstract
The success stories of identifying genes in Mendelian disorders have stimulated research that aims at identifying the genetic determinants in complex disorders, in which both genetics, environment and chance affect the pathogenetic processes. This review summarizes the brief history and lessons lear...
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PMID: 20494128
PDF is available here.
PDF is available here.
Abstract
This article critically analyses the submissions to the Senate Community Affairs Committee Inquiry into Gene Patents. It argues that gene patents are essential for attracting the investment required to ensure therapeutics based on gene technology reach the patient (patents to "treat me"). However, d...
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PMID: 20552942
PDF is available here.
PDF is available here.
Genetika (Moskva) (46)5 2010
Abstract
The distribution of surnames in for populations of the district rank in Kirov oblast has been used to calculate Barrai's parameters, which are the following: Ir, 0.0008-0.0208; H, 6.80-11.57; v, 0.003-0.058; alpha, 47.35-1191.39; R, 23.03-50.07. The results have been compared with data on the 1980s;...
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PMID: 20583608
PDF is available here.
PDF is available here.
Abstract
The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic,...
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PMID: 20393554
PDF is available here.
PDF is available here.
Abstract
We have a smattering of identifiable complete human genomes, but the coming months and years will undoubtedly bring thousands more. What will this mean for the practice of medicine in the US? No one knows, but given the remarkable drop in the cost of DNA sequencing over the last few years, it seems...
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PMID: 20359249
PDF is available here.
PDF is available here.
Genetika (Moskva) (46)4 2010
Abstract
This study is part of long-term research in the gene pool of Dagestan ethnic groups. The phenotype (in percent), gene, and haplotype frequencies in three Avar populations are reported. A total of 37 alleles of 13 loci of immune and biochemical genetic marker systems (ABO, Rhesus, P, Lewis, HP, GC, C...
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PMID: 20536025
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with...
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PMID: 19488835
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with...
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PMID: 19488835
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with...
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PMID: 19488835
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with...
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PMID: 19488835
PDF is available here.
PDF is available here.
Familial Cancer (9)1 2010
Abstract
More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with...
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PMID: 19488835
PDF is available here.
PDF is available here.
Genetika (Moskva) (46)3 2010
Abstract
Marriage structure has been analyzed in the populations of the administrative centers of five uluses of the Republic of Sakha (Yakutia). The populations studied differ from one another with respect to ethnic composition, namely in the ratio between the indigenous and immigrant populations (the indig...
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PMID: 20391786
PDF is available here.
PDF is available here.
Hereditas (Beijing) (32)2 2010
Abstract
We are facing nowadays in GWAS as well as the future study direction. The information outlined in this paper provides us a valuable guidance upon further exploration into genetic mechanism of CHD....
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PMID: 20176552
PDF is available here.
PDF is available here.
Genetics in Medicine (12)2 2010
Abstract
Primary health care providers will play an increasingly important role in delivering genetics-related services for women and children along the reproductive continuum. However, most primary health care providers have received little training in genetics or medical genomics to incorporate such servic...
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PMID: 20084011
PDF is available here.
PDF is available here.
Abstract
The principle deeds of genetics in Israel consist of a wide array of disciplines including agriculture, nutrients, biotechnology, pharmacology and pharmacogenetics, pertaining to criminal as well as medical aspects. In the scope of this state of the art historical review, the authors emphasize the m...
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PMID: 20549926
PDF is available here.
PDF is available here.
Abstract
The results indicate that this curriculum is an effective tool for educating medical students on the ELSI associated with genetic testing and for promoting positive changes in students' confidence, counseling attitudes and behaviors....
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PMID: 20174615
PDF is available here.
PDF is available here.
Abstract
médecine/sciences (26)1 2010
Abstract
Abstract
Certain terms used in medical genetics and more often in other medical fields are in need of clarification. The terms cited are frequently misunderstood, mispronounced, and/or misspelled. The discussion includes two Latin-derived terms (genua valga and calvaria), one Greek-derived term (apoptosis),...
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PMID: 19998463
PDF is available here.
PDF is available here.
Advances in Genetics (72) 2010
Abstract
We review here three general computational challenges that must be addressed. First, data mining and machine learning methods are needed to model nonlinear interactions between multiple genetic and environmental factors. Second, filter and wrapper methods are needed to identify attribute interaction...
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PMID: 21029850
PDF is available here.
PDF is available here.
Abstract
The structure of gene pool of the Siberian aboriginal population has been described based on the data on polymorphism of ZFX gene located on X-chromosome. In ten populations under study 49 haplotypes have been determined, three of which are presented with high frequency. Comparing the obtained resul...
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PMID: 21090236
PDF is available here.
PDF is available here.
Abstract
We have proposed a genome-wide association approach in molecular anthropological studies by providing lessons from the exemplary study of the Wellcome Trust Case Control Consortium. We have also highlighted the importance and uniqueness of Indian population groups in facilitating the design and find...
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PMID: 19810820
PDF is available here.
PDF is available here.
Abstract
In an effort to increase the awareness of genetics among African-American nurses, a pilot study was conducted with members of the National Black Nurses Association (NBNA) in order to assess the interest, knowledge, and practice of African-American nurses regarding genetics and to identify program ne...
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PMID: 20364722
PDF is available here.
PDF is available here.
Nursing Times (105)46 2009
Abstract
This second article in a two part series on genetics and genomics in healthcare focuses on the implications for nursing practice. Part 1 examined the progress of research in this area and discussed the implications for healthcare. This part outlines the nurse's role in supporting the patient pathway...
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PMID: 20041615
PDF is available here.
PDF is available here.
Abstract
MMW Fortschritte der Medizin (151)40 2009
Abstract
Clinical Medicine (9)5 2009
Abstract
Abstract
This study investigated the possible effects of genetic and environmental gender differences in effect on individual differences by using the Bem Sex Role Inventory (BSRI) with twins. A sex/gender-limitation analysis, a behavior genetics methodology was used to the following: (a) effects of gender-s...
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PMID: 19938658
PDF is available here.
PDF is available here.
Abstract
Abstract
We analyse 25 diverse groups in India to provide strong evidence for two ancient populations, genetically divergent, that are ancestral to most Indians today. One, the 'Ancestral North Indians' (ANI), is genetically close to Middle Easterners, Central Asians, and Europeans, whereas the other, the 'A...
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PMID: 19779445
PDF is available here.
PDF is available here.
Abstract
We discuss here, human predisposition to infectious diseases seems to cover a continuous spectrum from monogenic to polygenic inheritance. Although many studies have provided proof of principle that infectious diseases may result from various types of inborn errors of immunity, the genetic determini...
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PMID: 19729848
PDF is available here.
PDF is available here.
Abstract
Genetic medicine can pose ethical and legal dilemmas or both. This short review highlights some of the ethicolegal issues in disclosure of genetic information to family members and considers whether the availability, or not, of a medical intervention is relevant in communication of risk information....
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PMID: 19723417
PDF is available here.
PDF is available here.
Genetics in Medicine (11)8 2009
Abstract
Abstract
Pediatric Annals (38)8 2009
Abstract
Pediatric Annals (38)8 2009
Abstract
Physiological Genomics (38)2 2009
Abstract
Systems molecular medicine is the science of combining systems biology with molecular analysis and intervention to address clinically relevant questions. MicroRNAs (miRNAs) appear particularly suitable to serve as hubs of regulatory networks underlying complex diseases. Clear experimental evidence f...
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PMID: 19470802
PDF is available here.
PDF is available here.
Epidemiology (20)4 2009
Abstract
Epidemiology (20)4 2009
Abstract
The application of stepwise model selection on the genomic pathway scale--at least in the simple form currently put forward--is prone to yield highly misleading results. We provide pointers to some promising alternatives....
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PMID: 19533849
PDF is available here.
PDF is available here.
Abstract
Genetics in Medicine (11)7 2009
Abstract
Myotonic dystrophy type 1 is an autosomal dominant multisystem condition. Myotonic dystrophy type 1 is the result of an unstable CTG expansion in the 3'-untranslated region of the myotonic dystrophy protein kinase gene. The age of onset and the severity of the phenotype are roughly correlated with t...
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PMID: 19546810
PDF is available here.
PDF is available here.
Genetics in Medicine (11)7 2009
Abstract
Electronic health records have the potential to enable clinical integration of genetic/genomic medicine and improve delivery of personalized health care; however, structured and standardized data elements and functionality requirements are needed....
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PMID: 19478682
PDF is available here.
PDF is available here.
Abstract
This unit presents an overview of the most commonly used Web-based information resources for clinicians seeking to apply molecular or array-based genetic testing to patient care, obtain information on metabolic disease testing, learn more about newborn screening, or understand the molecular basis of...
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PMID: 19582767
PDF is available here.
PDF is available here.
B M B Reports (42)6 2009
Abstract
We have examined human-mouse homologous intronless disease and non-disease genes alongside their extent of sequence conservation, tissue expression, domain and gene ontology composition to get an idea regarding evolutionary and functional attributes. We show that selection has significantly discrimi...
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PMID: 19558794
PDF is available here.
PDF is available here.
Abstract
We first propose a novel Path-Counting Formula for calculating generalized kinship coefficients, which is motivated by Wright's path-counting method for computing inbreeding coefficient. We then present an efficient and scalable scheme for calculating generalized kinship coefficients on large pedigr...
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PMID: 19507284
PDF is available here.
PDF is available here.
Abstract
We developed four learning modules that varied along two factors: (1) learning mode (active learning vs. didactic learning) and (2) metaphor (risk elevator vs. bridge) and tested them using a 2 × 2 between-subjects, repeated measures design. The study used an innovative...
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PMID: 19466649
PDF is available here.
PDF is available here.
Abstract
Most practitioners agreed on testing the oldest child, aged 12 years (81.5% for GPs and 87.2% for pediatricians), and not testing the youngest child, aged 6 months (72.6% for GPs and 61.3% for pediatricians). After multivariate adjustment there were statistical differences between countries in recom...
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PMID: 19473081
PDF is available here.
PDF is available here.