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2,337,100 | Differences in the characteristics of families with BRCA1 and BRCA2 mutations in Israel. | Three specific mutations in the BRCA1 (185delAG, 5382insC) and BRCA2 (6174delT) genes have been reported to be of high prevalence in the Jewish Ashkenazi population. We studied the differences in phenotype of families carrying these mutations. All consecutive families found by the CHS Familial Cancer Service to carry o... |
2,337,101 | Exploring whole genome amplification as a DNA recovery tool for molecular genetic studies. | The whole genome amplification (WGA) protocol evaluated during this study, GenomiPhi DNA amplification kit, is a novel method that is not based on polymerase chain reaction but rather relies on the highly processive and high fidelity Phi29 DNA polymerase to replicate linear genomic DNA by multiple strand displacement a... |
2,337,102 | Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews. | In Jews of Moroccan descent (MJ), the prevalence of steroid 11beta-hydroxylase deficiency (11-OHD) is relatively high, with a carrier rate estimated as approximately one in 40. A single mutation in the CYP11B1 gene (encoding 11beta-hydroxylase), R448H, was suggested to account for the disease alleles in this population... |
2,337,103 | Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. | Approximately 12% of the U.S. population is Hispanic, with the majority residing in urban centers such as Los Angeles. The prevalence of BRCA mutations among high-risk Hispanic families is unknown.</AbstractText>One hundred and ten unrelated probands of Hispanic origin, with a personal or family history of breast and/o... |
2,337,104 | Genetic polymorphisms for 11 Y-STRs haplotypes of Chinese Yi ethnic minority group. | Eleven Y-STRs loci including minimal haplotypes (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, and DYS385a,b) and two additional loci, namely DYS438 and DYS439 have been co-amplified in 100 healthy unrelated males of Chinese Yi minority ethnic group using the Y-PLEX 5 and Y-PLEX 6 kit, in order to investiga... |
2,337,105 | Description and characterization of two new HLA alleles, B*4051 and DRB1*1364, identified by sequence-based typing. | Human leukocyte antigen (HLA)-B and HLA-DRB1 typing in two female individuals revealed reaction patterns that did not correspond to any known HLA-B specificity and appeared to identify a very rare HLA-DRB1 allele, respectively. Sequence-based analysis of these samples revealed two new HLA alleles, one similar to B*4023... |
2,337,106 | Identification of an HLA-B*07 allele variant (B*0740) in the Chinese Han population. | A novel HLA-B*07 allele, B*0740, has been identified by sequence-based typing (SBT) in the Chinese Han population. This new allele is identical to B*0705 and B*0706 for exons 2, 3, and 4, except for a single nucleotide at position 605 of codon 202 in exon 3 (AAG-->ATG) leading to an amino acid change from lysine to ... |
2,337,107 | Identification of a novel HLA-A*02 allele, A*027401*. | A novel HLA-A*02 allele was detected in a Caucasian patient from central Italy, requiring a hematopoietic cell transplantation. Direct sequencing identified a variation in one nucleotide position, which was confirmed by cloning. The name A*027401 was officially assigned by the WHO Nomenclature Committee in November 200... |
2,337,108 | MHC microsatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donor hematopoietic transplantation and disease association studies. | Twenty-two human major histocompatibility complex (MHC) region microsatellite (Msat) markers were studied for diversity and linkage disequilibrium (LD) with HLA loci in hematopoietic cell transplant recipients and their HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1 allele-matched unrelated donors. These Msats showed high... |
2,337,109 | HLA-DQB1 sequencing-based typing using newly identified conserved nucleotide sequences in introns 1 and 2. | Sequencing-based typing (SBT) human leukocyte antigen (HLA) class I and II genes should examine entire exon sequences where polymorphisms lie. Primers for the amplification of complete exons therefore anneal in introns and their design relies on accurate intron sequences being available. We decided to develop a SBT met... |
2,337,110 | A study of PSORS1C1 gene polymorphisms in Chinese patients with psoriasis. | Although genetic analyses have identified the HLA-Cw*0602 allele as the major risk allele for chronic plaque psoriasis in various ethnic groups, it has been proposed that the association of Cw*0602 is due to linkage disequilibrium and that other nearby genes are involved in susceptibility to psoriasis. The psoriasis su... |
2,337,111 | RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. | Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well documented. Mutations in six e... |
2,337,112 | Review: production, characterization, and testing of banked mammalian cell substrates used to produce biological products. | A critical component in controlling the production of biological products derived from human and animal cell lines is the characterization and testing of banked cell substrates. The objective is to confirm the identity, purity, and suitability of these cells for manufacturing use. Quality concerns for biological produc... |
2,337,113 | Development of EST-SSR markers by data mining in three species of shrimp: Litopenaeus vannamei, Litopenaeus stylirostris, and Trachypenaeus birdy. | We report on the data mining of publicly available Litopenaeus vannamei expressed sequence tags (ESTs) to generate simple sequence repeat (SSRs) markers and on their transferability between related Penaeid shrimp species. Repeat motifs were found in 3.8% of the evaluated ESTs at a frequency of one repeat every 7.8 kb o... |
2,337,114 | A stop codon polymorphism of Toll-like receptor 5 is associated with resistance to systemic lupus erythematosus. | Systemic lupus erythematosus (SLE) is an autoimmune disease with a complex genetic basis that includes susceptibility gene(s) within the chromosome 1q41-1q42 region. Toll-like receptor 5 (TLR5), the innate immune receptor for bacterial flagellin, maps to chromosome 1q41 and contains a common stop codon polymorphism tha... |
2,337,115 | Genome-wide screen identifies host genes affecting viral RNA recombination. | Rapid evolution of RNA viruses with mRNA-sense genomes is a major concern to health and economic welfare because of the devastating diseases these viruses inflict on humans, animals, and plants. To test whether host genes can affect the evolution of RNA viruses, we used a Saccharomyces cerevisiae single-gene deletion l... |
2,337,116 | Association study between the D10S1423 microsatellite marker and Alzheimer's disease. | Several studies have reported conflicting results concerning the genetic association between Alzheimer's disease (AD) and the microsatellite marker D10S1423 on chromosome 10p12-14. In an ethnically homogeneous German population of 422 patients with AD and 254 cognitively healthy controls, the 238-bp allele of the D10S1... |
2,337,117 | Genome screen for twinning rate QTL in four North American Holstein families. | The objective of this study was to identify twinning rate quantitative trait loci (QTL) by typing pooled samples in a preliminary screening followed by interval mapping to test QTL effects. Four elite North American Holstein half-sib sire families with high twinning rate predicted transmitting abilities (PTA) were used... |
2,337,118 | Vaccines in cancer: GVAX, a GM-CSF gene vaccine. | GVAX is a granulocyte-macrophage colony-stimulating factor (GM-CSF) gene-transfected tumor cell vaccine. Original work with GM-CSF as a recombinant DNA protein (Leukine) involved proliferative stimulation of macrophages and neutrophils for the purpose of reducing hematopoietic toxicity related to dose-intensive chemoth... |
2,337,119 | The -1C to T polymorphism in the annexin A5 gene is not associated with the risk of acute myocardial infarction or sudden cardiac death in middle-aged Finnish males.<Pagination><StartPage>133</StartPage><EndPage>140</EndPage><MedlinePgn>133-40</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVE" NlmCatego... | A common polymorphism (-1C to T) in the translation initiation sequence of annexin A5 (ANV) gene has recently been associated with a decreased risk of acute myocardial infarction (AMI). The aim of the present study was to analyze the association between the ANV genepolymorphism and the risk of AMI and ischemic sudden c... |
2,337,120 | A method for identifying genes related to a quantitative trait, incorporating multiple siblings and missing parents. | When studying either qualitative or quantitative traits, tests of association in the presence of linkage are necessary for fine-mapping. In a previous report, we suggested a polytomous logistic approach to testing linkage and association between a di-allelic marker and a quantitative trait locus, using genotyped triads... |
2,337,121 | Sensorineural hearing loss, early greying, and essential tremor: a new hereditary syndrome? | To present a syndrome composed of sensorineural hearing loss, early greying of scalp hair, and adult-onset essential tremor.</AbstractText>Retrospective chart review.</AbstractText>Tertiary care academic hospital.</AbstractText>Three individuals were seen with this triad, each with family members with similar features.... |
2,337,122 | Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. | These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to this statement does not necessarily ensure a successful medical outcome. These standards and guidelines should not be consi... |
2,337,123 | Development and validation of a CGH microarray for clinical cytogenetic diagnosis. | We developed a microarray for clinical diagnosis of chromosomal disorders using large insert genomic DNA clones as targets for comparative genomic hybridization (CGH).</AbstractText>The array contains 362 FISH-verified clones that span genomic regions implicated in over 40 known human genomic disorders and representati... |
2,337,124 | Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1. | Keratoconus is a corneal dystrophy with an incidence of 1 in 2000 and a leading cause for cornea transplantation in Western developed countries. Both clinical observations and segregation analyses suggest a major role for genes in its pathogenesis. It is genetically heterogeneous, most commonly sporadic, but inherited ... |
2,337,125 | An international survey of predictive genetic testing in children for adult onset conditions. | Predictive genetic testing is offered to asymptomatic adults even when there is no effective prophylaxis or treatment. Testing of young people in similar circumstances is controversial, and guidelines recommend against it. We sought to document descriptive examples of the occurrence of genetic testing in young people f... |
2,337,126 | Introducing genetic testing for adult-type hypolactasia. | To evaluate genotyping for two DNA variants (c.1993+327C>T and c.1438+117G>A), recently found to be associated with adult-type hypolactasia, in the diagnosis of lactose intolerance.</AbstractText>In total, 166 consecutive patients with gastrointestinal symptoms mimicking hypolactasia admitted to the clinic betwee... |
2,337,127 | Isogenic autosomes to be applied in optimal screening for novel mutants with viable phenotypes in Drosophila melanogaster. | Most insertional mutagenesis screens of Drosophila performed to date have not used target chromosomes that have been checked for their suitability for phenotypic screens for viable phenotypes. To address this, we have generated a selection of stocks carrying either isogenized second chromosomes or isogenized third chro... |
2,337,128 | Selection strength and hitchhiking around two anti-malarial resistance genes. | Neutral mutations may hitchhike to high frequency when they are situated close to sites under positive selection, generating local reductions in genetic diversity. This process is thought to be an important determinant of levels of genomic variation in natural populations. The size of genome regions affected by genetic... |
2,337,129 | Construction of a bispecific antisense oligonucleotide containing multiple binding sites for the treatment of hormone insensitive prostate tumors. | Antisense oligonucleotides (oligos) have demonstrated efficacy for the treatment of various cancers, infectious diseases and metabolic disorders. While most studies have utilized single oligos either administered alone, or more recently in combination therapy with other drugs, some investigators have administered more ... |
2,337,130 | An optimized experimental protocol based on neuro-evolutionary algorithms application to the classification of dyspeptic patients and to the prediction of the effectiveness of their treatment. | This paper aims to present a specific optimized experimental protocol (EP) for classification and/or prediction problems. The neuro-evolutionary algorithms on which it is based and its application with two selected real cases are described in detail. The first application addresses the problem of classifying the functi... |
2,337,131 | Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome. | We examined 54 patients with deletion-negative Angelman syndrome (AS) using DNA methylation testing and microsatellite polymorphism analysis, and identified three patients with paternal uniparental disomy (UPD) and seven patients with imprinting defects (ID). The three patients with UPD were shown to have paternal isod... |
2,337,132 | Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. | Leigh syndrome can result from both nuclear and mitochondrial DNA defects. Mutations in complex V genes of the respiratory chain were considered until recently as the most frequent cause for mitochondrial inherited Leigh syndrome, while gene defects in complex I were related to recessive Leigh syndrome. Recently few re... |
2,337,133 | Large-scale genomic approaches to brain development and circuitry. | Over the past two decades, molecular genetic studies have enabled a common conceptual framework for the development and basic function of the nervous system. These studies, and the pioneering efforts of mouse geneticists and neuroscientists to identify and clone genes for spontaneous mouse mutants, have provided a para... |
2,337,134 | [A late-onset case of oculopharyngeal muscular dystrophy carrying a (GCG)8 repeat expansion in the PAPBN1 gene]. | We report a sporadic case of a female patient with oculopharyngeal muscular dystrophy (OPMD). Her father died at age 86 and mother at age 74. There was no familial occurrence of the disease. The patient initially developed a nasal voice at age 66. Neurological examinations on admission at age 72 revealed bilateral ptos... |
2,337,135 | Report of the roundtable discussion organised by the Swiss Proteomics Society (SPS), Bern, 8th December 2004. | How close are we to using proteomics tools in the every day practice of physicians? What are the socio-economical issues our health care system may face with the advent of biomarkers for early diagnosis? How to get the specialists from the various disciplines integrated in proteomics to establish a common understanding... |
2,337,136 | Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population. | Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently i... |
2,337,137 | Follow-up of children and adolescents with short stature: the importance of the growth rate. | Short stature is defined as a height of more than two standard deviations below the average for a given age and sex in a reference population. The objective was to describe follow-up conducted among short-stature children and adolescents.</AbstractText>Descriptive study, at the Growth outpatient clinic, Department of P... |
2,337,138 | Ranks of genuine associations in whole-genome scans. | With the recent advances in high-throughput genotyping techniques, it is now possible to perform whole-genome association studies to fine map causal polymorphisms underlying important traits that influence susceptibility to human diseases and efficacy of drugs. Once a genome scan is completed the results can be sorted ... |
2,337,139 | goCluster integrates statistical analysis and functional interpretation of microarray expression data. | Several tools that facilitate the interpretation of transcriptional profiles using gene annotation data are available but most of them combine a particular statistical analysis strategy with functional information. goCluster extends this concept by providing a modular framework that facilitates integration of statistic... |
2,337,140 | A discordant sib-pair linkage analysis of age-related macular degeneration. | Age-related macular degeneration (AMD) is the leading cause of visual impairment and blindness among older adults in the United States and throughout the developed world. Etiological research implicates both genetic and environmental components. Our prior genome scan in 511 affected sib-pairs and other relative pairs i... |
2,337,141 | Molecular genetics of adult-type hypolactasia. | Adult-type hypolactasia (lactase non-persistence; primary lactose malabsorption) is characterized by the down-regulation of the lactase enzyme activity in the intestinal wall after weaning. The down-regulation is genetically determined and a mutation has occurred that has made part of mankind tolerate milk (lactase per... |
2,337,142 | Autoimmune retinopathy with RPE hypersensitivity and 'negative ERG' in X-linked hyper-IgM syndrome. | To report the clinical, electrophysiological, and immunological features of a patient with X-linked hyper-IgM immunodeficiency syndrome type 1 (HIGM1) accompanied by a novel type of autoimmune retinopathy, including retinal pigment epithelium (RPE) hypersensitivity.</AbstractText>Comprehensive ophthalmological examinat... |
2,337,143 | Analysis of HLA class I and class II gene polymorphisms in Japanese patients with human T-cell lymphotropic virus type 1-associated uveitis. | To investigate the immunogenetic background of human T-cell lymphotropic virus type 1 (HTLV-1)-associated uveitis (HAU) that presents immune-mediated reactive changes in the uvea.</AbstractText>HLA class I and class II genes were studied in 51 patients with HAU, 192 asymptomatic HTLV-1 carriers, and 266 HTLV-1-seronega... |
2,337,144 | Mitochondrial inheritance in depression, dysmotility and migraine? | Several studies have reported a high degree of association of the common conditions of depression, bowel dysmotility and migraine. Mitochondrial dysfunction and mitochondrial DNA (mtDNA) sequence variants have been linked individually to each of these three conditions, providing a plausible hypothesis for the reported ... |
2,337,145 | Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene. | To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 5-generation family, and to examine the phenotype and degree of intrafamilial variability.</AbstractText>Family genetic study.</AbstractText>Nine affected individuals from a nonconsanguineous British family.</AbstractText>Ophthal... |
2,337,146 | Dissecting systems-wide data using mixture models: application to identify affected cellular processes. | Functional analysis of data from genome-scale experiments, such as microarrays, requires an extensive selection of differentially expressed genes. Under many conditions, the proportion of differentially expressed genes is considerable, making the selection criteria a balance between the inclusion of false positives and... |
2,337,147 | [The characteristics of combined genetic screening of the first trimester of pregnancy after use of assisted reproductive technology programs]. | Results of comparison of nuchal translucency measurments (NT) and parameters of the biochemical analysis of blood serum of pregnant women in the first trimester and after use of assisted reproductive technologies (in vitro fertilization and cytoplasmic sperm injection (ICSI)) are submitted. It was shown that NT does no... |
2,337,148 | Adrenomyeloneuropathy: report of a new mutation in a French Canadian female. | X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnos... |
2,337,149 | Cancer gene discovery in solid tumours using transposon-based somatic mutagenesis in the mouse. | Retroviruses, acting as somatic cell insertional mutagens, have been widely used to identify cancer genes in the haematopoietic system and mammary gland. An insertional mutagen for use in other mouse somatic cells would facilitate the identification of genes involved in tumour formation in a wider variety of tissues. H... |
2,337,150 | Auditory neuropathy or endocochlear hearing loss? | The purpose of the study was to define boundaries between endocochlear hearing loss and auditory neuropathy in children with congenital profound hearing loss and positive otoacoustic emissions.</AbstractText>A child presented with bilateral profound hearing loss, which was confirmed by the absence of evoked auditory po... |
2,337,151 | Genomic epidemiology of complex disease: the need for an electronic evidence-based approach to research synthesis. | Modern microarray genotyping now permits simultaneous analysis of tens of thousands of polymorphisms, and this technology is being widely used to associate the role of genes with the etiology of complex disease. Genome-wide hypothesis-free mapping will also increasingly generate candidate genes that require further tes... |
2,337,152 | Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. | Genetic testing for hereditary cancer syndromes contributes to the medical management of patients who may be at increased risk of one or more cancers. BRCA1 and BRCA2 testing for hereditary breast and ovarian cancer is one such widely used test. However, clinical testing methods with high sensitivity for deleterious mu... |
2,337,153 | Predictive genetic test decisions for Huntington's disease: elucidating the test/no-test dichotomy. | Predictive genetic testing for serious, mature-onset genetic illness represents a unique context in health decision making. This article presents findings from an exploratory qualitative Australian-based study into the decision making of individuals at risk for Huntington's disease (HD) with regard to predictive geneti... |
2,337,154 | Scope for improving congenital cataract blindness prevention by screening of infants (red reflex screening) in a New Zealand setting. | To assess the coverage and quality of routine red reflex screening in a single region and to consider the results in the context of the current New Zealand guidelines.</AbstractText>All the health practitioners partaking in routine Well Child - Tamariki Ora checks in the Nelson-Tasman region were asked to complete a si... |
2,337,155 | Pharmacogenomics of tumor necrosis factor antagonists in rheumatoid arthritis. | Tumor necrosis factor (TNF)-alpha plays a central role in the pathogenesis of rheumatoid arthritis (RA) and is instrumental in causing joint destruction, the clinical hallmark of the disease. Recognizing this, in recent years biological therapies have been developed that work by blocking the damaging effects of TNF-alp... |
2,337,156 | Molecular testing for microsatellite instability and its value in tumor characterization. | Molecular analysis of tumor tissue has become a rapidly expanding field in medical research, exploiting the advantages of new technologies adapted to high-throughput examination of genetic alterations, gene and protein expression patterns. Only exceptionally, these approaches have found their way into routine clinical ... |
2,337,157 | Miniaturized detection technology in molecular diagnostics. | Miniaturization of genetic tests represents the convergence of molecular biology and engineering and is leading to a new class of small analyzers and test systems for genetic testing with improved analytical characteristics. Miniaturization initially focused on devices that contained micrometer-sized features designed ... |
2,337,158 | A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease. | Polygenic diseases are related to the complex interplay of genetic variations. We evaluated whether clusters of cholesterol- and lipid-related genetic variations are associated with Alzheimer's disease.</AbstractText>We analyzed 12 cholesterol-related single nucleotide polymorphisms and 48 control polymorphisms in 545 ... |
2,337,159 | Psychiatric genetics: a survey of psychiatrists' knowledge, opinions, and practice patterns. | Knowledge about the genetic basis of psychiatric illness is growing rapidly, and psychiatrists may be called upon to incorporate this information into clinical practice. The goal of this study was to assess psychiatrists' familiarity with and attitudes toward genetic information.</AbstractText>We surveyed 844 participa... |
2,337,160 | Is HBV genotyping of clinical relevance? | The hepatitis B virus, as is the case of the hepatitis C virus, can be categorized in several genotypes. The genotyping of HBV is based on the nucleotide sequence divergence encoding the amino acids constituting the HBV surface proteins. Since the genotype of the hepatitis C virus is shown to be related to epidemiology... |
2,337,161 | Bioinformatics and approaches to identifying polygenic susceptibility traits. | The role of genetic factors in periodontal disease is now well recognized, although details for the genetic mechanisms of the disease and implications for therapy can be as obscure as they are for other human traits. This paper addresses the role that the analysis of genome-wide data might play in helping to understand... |
2,337,162 | Bacterial vaginosis: many questions--any answers? | Bacterial vaginosis, a common disorder among young women, is associated with adverse reproductive health outcomes. This review summarizes our current understanding of bacterial vaginosis and where future research should be focused. Recommendations for prevention, diagnosis, and treatment in both nonpregnant and pregnan... |
2,337,163 | Branch-length prior influences Bayesian posterior probability of phylogeny. | The Bayesian method for estimating species phylogenies from molecular sequence data provides an attractive alternative to maximum likelihood with nonparametric bootstrap due to the easy interpretation of posterior probabilities for trees and to availability of efficient computational algorithms. However, for many data ... |
2,337,164 | Weighted least-squares likelihood ratio test for branch testing in phylogenies reconstructed from distance measures. | A variety of analytical methods is available for branch testing in distance-based phylogenies. However, these methods are rarely used, possibly because the estimation of some of their statistics, especially the covariances, is not always feasible. We show that these difficulties can be overcome if some simplifying assu... |
2,337,165 | Associations between malaria and MHC genes in a migratory songbird. | Malaria parasites are a widespread and species-rich group infecting many wild populations of mammals, birds and reptiles. Studies on humans have demonstrated that genetic factors play a key role in the susceptibility and outcome of malaria infections. Until the present study, it has not been examined whether genetic va... |
2,337,166 | Normal uniform mixture differential gene expression detection for cDNA microarrays. | One of the primary tasks in analysing gene expression data is finding genes that are differentially expressed in different samples. Multiple testing issues due to the thousands of tests run make some of the more popular methods for doing this problematic.</AbstractText>We propose a simple method, Normal Uniform Differe... |
2,337,167 | Exploratory Bayesian model selection for serial genetics data. | Characterizing the process by which molecular and cellular level changes occur over time will have broad implications for clinical decision making and help further our knowledge of disease etiology across many complex diseases. However, this presents an analytic challenge due to the large number of potentially relevant... |
2,337,168 | Genetic variation in heroin-induced changes in behaviour: effects of B6 strain dose on conditioned reward and locomotor sensitization in 129-B6 hybrid mice. | Substantial interindividual variability exists in the propensity to develop opiate addiction. Genetic variation in opiate reward may contribute to this variability. A large body of evidence indicates genetic variation in mice for several effects of opiate drugs. The present study examined heroin-induced place condition... |
2,337,169 | Impact of the introduction of a guideline on the targeted detection of hereditary haemochromatosis. | In 1998 a clinical guideline for the targeted, accurate and early detection and treatment of HFE-related hereditary haemochromatosis (HH), which comprises a test for the causative HFE-gene mutations, was introduced in our outpatient department.</AbstractText>The impact of this guideline was evaluated retrospectively. D... |
2,337,170 | Testing population genetic structure using parametric bootstrapping and MIGRATE-N. | We present a method for investigating genetic population structure using sequence data. Our hypothesis states that the parameters most responsible for the formation of genetic structure among different populations are the relative rates of mutation (micro) and migration (M). The evolution of genetic structure among dif... |
2,337,171 | Autopsy diagnosis of 21-hydroxylase deficiency CAH in a case of apparent SIDS. | A 5-month-old boy with no history of vomiting, early sexual development, or noticeable significant illness was found dead in bed. Autopsy demonstrated bilateral adrenal hyperplasia unequivocally shown on biochemical testing of blood and urine to be due to 21-hydroxylase deficiency. Genetic analysis of the CYP21 gene sh... |
2,337,172 | A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. | Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant linkage on 1q42 with a multipoint lod score of 3.65. Haplotype analysis and fine mapping yielded a peak 2-point ... |
2,337,173 | Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. | To assess the prevalence, nature, and associated phenotypes of PINK1 gene mutations in a large series of patients with early-onset (<50 years) parkinsonism.</AbstractText>The authors studied 134 patients (116 sporadic and 18 familial; 77% Italian) and 90 Italian controls. The whole PINK1 coding region was sequenced ... |
2,337,174 | Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia. | Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have... |
2,337,175 | Transthyretin-related familial amyloidotic polyneuropathy. | Transthyretin-related familial amyloidotic polyneuropathy (FAP) is a fatal hereditary amyloidosis. Until 20 years ago, FAP was thought to be restricted to endemic occurrence in certain areas. However, owing to progress in biochemical and molecular genetic analyses, FAP is now believed to occur worldwide. As of today, r... |
2,337,176 | Moving primate genomics beyond the chimpanzee genome. | The comparative DNA sequence data that already exist on individual genomic loci depict the phylogenetic relationships of nearly all extant primate genera. Such a phylogenetic representation of the primates, validated by many sequenced primate genomes, and encompassing the full adaptive diversity of the order, is a prer... |
2,337,177 | G-308A TNF-alpha polymorphism is associated with an increased risk of invasive cervical cancer. | Cervical cancer is initiated by high-risk human papillomaviruses (HPV-16 and HPV-18), but an effective immune response may control the progression of this disease. Tumor necrosis factor-alpha (TNF-alpha) is a pro-inflammatory cytokine, that has been implicated in several cancers. In a case-control study, we evaluated t... |
2,337,178 | Molecular diagnosis in lymphoma. | The evolution of our ability to diagnose and classify lymphomas in an increasingly refined manner has paralleled the development of novel technologic approaches, with contemporary practice dependent upon the harnessing of a plethora of data that include microscopic, immunophenotypic, and genetic information. Although e... |
2,337,179 | Papillon-Lefèvre syndrome treated with acitretin. | A 7-year-old boy born to consanguineous parents had suffered from palmoplantar keratoderma and chronic gingivitis since the age of 3 months. He was diagnosed with Papillon-Lefèvre syndrome. Genetic testing confirmed that he was homozygous with a point mutation in exon 6 of the cathepsin C gene. One year after init... |
2,337,180 | Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. | Previously, the DFNA21 locus was positioned telomeric to the DFNA13 locus based on testing of candidate loci. One family member in this region did not carry the at risk haplotype, although he had the same nonspecific midfrequency hearing impairment as other affected family members. Hence, we performed a whole genome li... |
2,337,181 | A genetically engineered strain of Pseudomonas putida as a useful tool for identifying new therapeutic herbicides. | A genetically engineered strain of Pseudomonas putida U designed for the identification of new therapeutic herbicides has been obtained. In this bacterium, deletion of the homogentisate gene cluster (hmgRABC) confers upon this mutant huge biotechnological possibilities since it can be used: (i) as a target for testing ... |
2,337,182 | [Prognosis work-up in prenatal medicine: the example of Down's syndrome]. | Establishing a prognosis in prenatal medicine is often a complex and uncertain task. Predictive tools such as imagery techniques and biological markers may lack accuracy since they are used while the fetus is still pursuing its development. In France, antenatal euthanasia and fetal abandon are legal issues and socially... |
2,337,183 | Surgical decisions made by 158 women with hereditary breast cancer aged <50 years. | To establish the uptake of contralateral risk reducing mastectomy in women informed of their risks and options at time of diagnosis of their primary unilateral breast cancer.</AbstractText>We have assessed the surgical choices of 70 women diagnosed with breast cancer <50 years as part of a family history surveillanc... |
2,337,184 | Screening for RAD51 and BRCA2 BRC repeat mutations in breast and ovarian cancer families. | Together, germline mutations in the two major susceptibility genes BRCA1 and BRCA2 account for approximately 20-30% and 70-80% of the familial breast and ovarian cancer cases, respectively. This indicates involvement of additional susceptibility genes, perhaps in combination with a polygenic effect. However, it is also... |
2,337,185 | High local genetic diversity and low outcrossing rate in Caenorhabditis elegans natural populations. | Caenorhabditis elegans is a major model system in biology, yet very little is known about its biology outside the laboratory. In particular, its unusual mode of reproduction with self-fertile hermaphrodites and facultative males raises the question of its frequency of outcrossing in natural populations.</AbstractText>W... |
2,337,186 | Pharmacogenomics: questions and concerns. | The progressively aging population in the western world, rising socioeconomic expenditure and increasing costs for the treatment of adverse drug reactions, lead to increasing pressure on public spending. The public acceptance of pharmacogenomics is high, therefore, because it promises individualized safe and effective ... |
2,337,187 | Gene expression profile analysis: an emerging approach to investigate mechanisms of genotoxicity. | The response to stress triggers transcriptional activation of genes involved in cell survival and/or cell death. Thus, the monitoring of gene expression levels in large gene sets or whole genomes in response to various agents (toxicogenomics) has been proposed as a tool for investigating mechanisms of toxicity. Althoug... |
2,337,188 | [Curriculum reform in dental medicine at the University of Ghent]. | The need for dental and oral treatment in the society is constantly changing. Epidemiological studies show that in the rapidly aging population in Western Europe, caries (except for root caries) is declining but more complex periodontal treatment is needed. The number of completely edentulous patients is decreasing. Pa... |
2,337,189 | [Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports]. | Denys-Drash syndrome is a rare symptom complex associated with obligatory childhood nephrotic syndrome, male pseudohermaphroditism, and Wilms' tumor. The etiology of Denys-Drash syndrome is attributed to a mutation of the WT1 gene. We report on two cases of Deny-Drash syndrome confirmed by genetic testing. Rapidly evol... |
2,337,190 | Fragile X-associated tremor/ataxia syndrome and movements disorders. | Fragile X-associated tremor/ataxia syndrome (FXTAS) is a multiple-system neurologic disorder caused by expansion of 55-200 CGG repeats in the FMR1 (fragile site mental retardation 1) gene. The presence of both hyperkinetic and hypokinetic movement disorders such as ataxia, tremor, and parkinsonism are clinical features... |
2,337,191 | Neuroacanthocytosis. | The term neuroacanthocytosis describes a group of phenotypically and genetically heterogeneous disorders, and thus has long been a source of confusion and diagnostic imprecision. It is vital to distinguish between the lipoprotein deficiency disorders which affect gait, but do not cause movement disorders or neuropsychi... |
2,337,192 | Determination of functional interactions among signalling pathways in Escherichia coli K-12. | Interaction among different signalling pathways has been noted repeatedly. However, no systematic method has been developed to identify and quantify such interactions. Here we reported that network component analysis (NCA) was able to determine interactions among various signalling pathways in Escherichia coli K-12 bas... |
2,337,193 | Genetic association of alpha2-Heremans-Schmid glycoprotein polymorphism with late-onset Alzheimer's disease in Italians. | Alpha2-Heremans-Schmid glycoprotein (AHSG), also known as fetuin-A, is a highly glycosylated protein which has been recently reported to be decreased in the cerebrospinal fluid of patients with Alzheimer's disease. AHSG is genetically polymorphic and two common alleles, AHSG*1 and AHSG*2, have been described. The purpo... |
2,337,194 | Real-time polymerase chain reaction detection of cauliflower mosaic virus to complement the 35S screening assay for genetically modified organisms. | Labeling of genetically modified organisms (GMOs) is now in place in many countries, including the European Union, in order to guarantee the consumer's choice between GM and non-GM products. Screening of samples is performed by polymerase chain reaction (PCR) amplification of regulatory sequences frequently introduced ... |
2,337,195 | [Evaluation of outpatient management in HNPCC]. | The differential diagnostic assignment of patients with hereditary non-polyposis colorectal cancer among patients with non-familial colorectal carcinoma is difficult but essential to provide early sufficient cancer screening. In order to analyze the actual situation of outpatients, 36 gastroenterologists in private pra... |
2,337,196 | New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas. | Recent advances in the molecular genetic of adrenal tumors give new insights in the pathophysiology of these neoplasms in both hereditary and sporadic cases. The practice of genetic counselling in patients with adrenal tumors have been recently changed by the identification and the understanding of new specific heredit... |
2,337,197 | Development of a recA gene-based identification approach for the entire Burkholderia genus. | Burkholderia is an important bacterial genus containing species of ecological, biotechnological, and pathogenic interest. With their taxonomy undergoing constant revision and the phenotypic similarity of several species, correct identification of Burkholderia is difficult. A genetic scheme based on the recA gene has gr... |
2,337,198 | In one's own image: ethics and the reproduction of deafness. | The ethics of the use of genetic screening and reproductive technologies to select against and for deafness is presented. It is argued that insofar as deafness is a disability it is ethical to act in such a way as to avoid the conception or birth of children with genetic or congenital deafness. The discovery and recogn... |
2,337,199 | Applicability of oral fluid collected onto filter paper for detection and genetic characterization of measles virus strains. | Expansion of measles molecular surveillance to developing countries where measles is endemic will help facilitate measles control. Limited infrastructure in these areas is a barrier to referral of specimens suitable for measles virus (MV) genotyping. In this study, we demonstrate that oral fluid dried onto filter paper... |
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