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2,336,600 | Implementation of informed consent for a cystic fibrosis newborn screening program in France: low refusal rates for optional testing. | The French Association for Neonatal Screening implemented cystic fibrosis neonatal screening (CF NBS) region by region in France, from the beginning of the year 2002 to early 2003. The program uses an immunoreactive trypsinogen/DNA testing algorithm on dried blood samples obtained at 3 days of age. Incorporation of DNA... |
2,336,601 | ApoE gene and familial risk of Alzheimer's disease as predictors of odour identification in older adults. | The study examined odour identification ability in healthy older adults at increased risk for developing Alzheimer's disease (AD). We recruited a sample (n = 24) of siblings related to probable AD cases and an age-matched control sample (n = 47). All participants were genotyped for the presence of the ApoE epsilon4 all... |
2,336,602 | Different real time PCR approaches for the fine quantification of SNP's alleles in DNA pools: assays development, characterization and pre-validation. | Single nucleotide polymorphisms (SNPs) are becoming the most common type of markers used in genetic analysis. In the present report a SNP has been chosen to test the applicability of Real Time PCR to discriminate and quantify SNPs alleles on DNA pools. Amplification Refractory Mutation System (ARMS) and Mismatch Amplif... |
2,336,603 | Sequence diversity within the HA-1 gene as detected by melting temperature assay without oligonucleotide probes. | The minor histocompatibility antigens (mHags) are self-peptides derived from common cellular proteins and presented by MHC class I and II molecules. Disparities in mHags are a potential risk for the development of graft-versus-host disease (GvHD) in the recipients of bone marrow from HLA-identical donors. Two alleles h... |
2,336,604 | Chloroplast and microsatellite DNA diversities reveal the introduction history of Brazilian peppertree (Schinus terebinthifolius) in Florida. | Brazilian peppertree (Schinus terebinthifolius) is a woody perennial that has invaded much of Florida. This native of northeastern Argentina, Paraguay, and Brazil was brought as an ornamental to both the west and east coasts of Florida at the end of the 19th century. It was recorded as an invader of natural areas in th... |
2,336,605 | Reference materials (RMs) for analysis of the human factor II (prothrombin) gene G20210A mutation. | The Scientific Committee of Molecular Biology Techniques (C-MBT) in Clinical Chemistry of the IFCC has initiated a joint project in co-operation with the European Commission, Joint Research Centre, Institute of Reference Materials and Measurements to develop and produce plasmid-type reference materials (RMs) for the an... |
2,336,606 | A C1173T dimorphism in the VKORC1 gene determines coumarin sensitivity and bleeding risk. | A C1173T polymorphism in intron 1 of the VKORC1 gene has been claimed to determine the interindividual variability in the response to vitamin K antagonist therapy (VKA), but it is unknown whether it also influences bleeding risk. We aimed to confirm the relationship between C1173T status and phenprocoumon or acenocouma... |
2,336,607 | Fragile X syndrome: a clinico-genetic study of mentally retarded patients in Kuwait. | In a prospective study in Kuwait, 182 mentally retarded male patients who fulfilled 5 or more clinical criteria of fragile X syndrome were screened using polymerase chain reaction (PCR) testing. Twenty patients (11%) were highly suspected of having fragile X syndrome due to mutation at the FRAXA locus; none had mutatio... |
2,336,608 | [Intrathecal baclofen for children with chronic pain related to severe spasticity: advantages of tunneling the catheter in the testing phase]. | To document the effectiveness and safety of intrathecal baclofen administered through a tunneled catheter during a diagnostic procedure, prior to implantation of a subcutaneous pump, in children with chronic pain due to severe spasticity.</AbstractText>This was a retrospective study of 6 children with intense chronic p... |
2,336,609 | Association between PADI4 and rheumatoid arthritis: a replication study. | The peptidylarginine deiminase type 4 gene (PADI4) was recently reported to be associated with rheumatoid arthritis (RA) in a Japanese population. The presence of a single-nucleotide polymorphism (SNP) located in intron 3 of PADI4 provided the strongest evidence of this association. Moreover, functional haplotypes that... |
2,336,610 | The pituitary in klinefelter syndrome. | Klinefelter syndrome is a genetically determined primary gonadal defect characterized by the XXY karyotype. The testes are small, blood testosterone levels are low, and blood gonadotropin levels are elevated. Pituitary changes in patients with Klinefelter syndrome have not been evaluated in detail.</AbstractText>The fi... |
2,336,611 | Research for newborn screening: developing a national framework. | Newborn metabolic screening represents the largest application of genetic testing in medicine. As new technologies are developed, the number of conditions amenable to newborn screening (NBS) will continue to expand. Despite the scope of these programs, the evidence base for a number of NBS applications remains relative... |
2,336,612 | ACOG committee opinion. Number 318, October 2005. Screening for Tay-Sachs disease. | Tay-Sachs disease (TSD) is a severe progressive neurologic disease that causes death in early childhood. Carrier screening, should be offered before pregnancy to individuals and couples at high-risk, including those of Ashkenazi Jewish, French-Canadian, or Cajun descent and those with a family history consistent with T... |
2,336,613 | Preimplantation HLA typing: having children to save our loved ones. | Preimplantation tissue typing has been proposed as a method for creating a tissue matched child that can serve as a haematopoietic stem cell donor to save its sick sibling in need of a stem cell transplant. Despite recent promising results, many people have expressed their disapproval of this method. This paper address... |
2,336,614 | Genetic analysis identifies a function for the queC (ybaX) gene product at an initial step in the queuosine biosynthetic pathway in Escherichia coli. | Queuosine (Q), one of the most complex modifications occurring at the wobble position of tRNAs with GUN anticodons, is implicated in a number of biological activities, including accuracy of decoding, virulence, and cellular differentiation. Despite these important implications, its biosynthetic pathway has remained unr... |
2,336,615 | Large genomic deletions inactivate the BRCA2 gene in breast cancer families. | BRCA1 and BRCA2 are the two major genes responsible for the breast and ovarian cancers that cluster in families with a genetically determined predisposition. However, regardless of the mutation detection method employed, the percentage of families without identifiable alterations of these genes exceeds 50%, even when a... |
2,336,616 | Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. | Semaphorins are a large family of transmembrane proteins. The gene for SEMA4A encodes a transmembrane protein comprising 760 amino acids. To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseas... |
2,336,617 | Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. | Subtelomere fluorescence in situ hybridisation (FISH) analysis has increasingly been used as an adjunct to routine cytogenetic testing in order to detect small rearrangements. Previous reports have estimated an overall abnormality rate of 6%, with a range of 2-29% because of different inclusion criteria.</AbstractText>... |
2,336,618 | Multicolour FISH and quantitative PCR can detect submicroscopic deletions in holoprosencephaly patients with a normal karyotype. | Holoprosencephaly (HPE) is the most common structural malformation of the developing forebrain. At birth, nearly 50% of children with HPE have cytogenetic anomalies. Approximately 20% of infants with normal chromosomes have sequence mutations in one of the four main HPE genes (SHH, ZIC2, SIX3, and TGIF). The other non-... |
2,336,619 | A unique gene expression signature discriminates familial Alzheimer's disease mutation carriers from their wild-type siblings. | Alzheimer's disease (AD) is a neurodegenerative disease with an insidious onset and progressive course that inevitably leads to death. The current diagnostic tools do not allow for diagnosis until the disease has lead to irreversible brain damage. Genetic studies of autosomal dominant early onset familial AD has identi... |
2,336,620 | Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y. | It is still unclear if a recurrence risk would exist in fathers of an aneuploid offspring of paternal origin. We have studied disomy frequencies in spermatozoa from fathers having Klinefelter syndrome (KS) offspring or miscarriages. The effect of paternal age on sperm disomy percentages is also analysed.</AbstractText>... |
2,336,621 | Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone. | Paget's disease of bone (PDB) is a common metabolic bone disease of late onset with a strong genetic component. Rarely, PDB can occur as part of a syndrome in which the disease is accompanied by inclusion body myopathy and frontotemporal dementia (inclusion body myopathy, Paget's disease and frontotemporal dementia, IB... |
2,336,622 | Novel compound heterozygous mutations in sacsin-related ataxia. | High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia, Italy, Turkey, and Japa... |
2,336,623 | Genetic susceptibility testing from a stress and coping perspective. | Four theories of health behavior and of stress and coping are reviewed for their ability to illuminate interest in uptake and outcomes of genetic testing for adult-onset diseases. These theories are the Health Belief Model, the Theory of Planned Behavior (TPB), the Common Sense Model of Self-regulation (CSM), and the T... |
2,336,624 | Association between the 5HT1B receptor gene (HTR1B) and the inattentive subtype of ADHD. | Preclinical and genetic studies have implicated the 5HT1B receptor gene (HTR1B) in attention-deficit/hyperactivity disorder (ADHD). Association with a single nucleotide polymorphism (SNP; G861C) has been observed, but more extensive linkage disequilibrium analyses have not been reported.</AbstractText>To examine haplot... |
2,336,625 | New approaches to drug development in pediatric oncology. | This article reviews the changing paradigm of new drug development for childhood cancer. Although there have been dramatic improvements in the treatment and outcome for childhood cancer over the past 50 years, in some cancers, only limited progress has been made. New strategies to improve the outcome for poor-prognosis... |
2,336,626 | Inherited susceptibility for pediatric cancer. | The percentage of childhood cancers that are caused by a clearly inherited predisposition varies significantly from only a few percent to more than 50% with individual tumor types. Recent advances in genetic testing and studies of cohorts of cancer patients have demonstrated the likelihood of identifying a cancer susce... |
2,336,627 | Pharmacodiagnostic testing in breast cancer: focus on HER2 and trastuzumab therapy. | Pharmacogenomics is defined as research into inherited genetic variations that determine an individual's response to therapeutic agents. In oncology, pharmacogenomics based on somatic molecular alterations inherited by subsequent cancer cell generations forms the basis of molecular targeting of novel therapeutic agents... |
2,336,628 | Detection of resistance to imatinib by metabolic profiling: clinical and drug development implications. | Acquired resistance to imatinib mesylate is an increasing and continued challenge in the treatment of BCR-ABL tyrosine kinase positive leukemias as well as gastrointestinal stromal tumors. Stable isotope-based dynamic metabolic profiling (SIDMAP) studies conducted in parallel with the development and clinical testing o... |
2,336,629 | Factors influencing uptake of genetic testing for colorectal cancer risk in an Australian Jewish population. | There is a significant excess of colorectal cancer in the Australian Ashkenazi Jewish community. This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk. There is curre... |
2,336,630 | Comparing knowledge of beta-thalassemia in samples of Italians, Italian-Americans, and non-Italian-Americans. | The purpose of this study was to determine the level of beta-thalassemia awareness among Italians living on the eastern side of Sicily (Bronte, Catania, and Tortorici, Messina), Italian-Americans, and Americans of other ethnic backgrounds (Other-Americans). A questionnaire was developed which asked respondents knowledg... |
2,336,631 | Predictive genetic testing for hereditary breast and ovarian cancer: psychological distress and illness representations 1 year following disclosure. | This prospective study evaluates emotional functioning and illness representations in 68 unaffected women (34 carriers/34 noncarriers) 1 year after predictive testing for BRCA1/2 mutations when offered within a multidisciplinary approach. Carriers had higher subjective risk perception of breast cancer than noncarriers.... |
2,336,632 | To test or not to test? Moderators of the relationship between risk perceptions and interest in predictive genetic testing. | The moderating effects of motivational factors (illness prevention vs. emotional reassurance), regulatory focus (health vs. illness orientations), and cancer anxiety on the relationship between risk perceptions and women's interest in predictive genetic testing for breast cancer were studied among 102 women with no his... |
2,336,633 | Significant association of interleukin 8 -251T/A polymorphism with smoking behavior in a Japanese population. | Accumulating evidence indicates that the genotype may impact on smoking behavior and a deeper understanding of the molecular basis could lead to more effective strategies for preventing initiation of the habit and to help smokers to quit. Since individual variation in airway responsiveness to cigarette smoke might have... |
2,336,634 | Optic atrophies in metabolic disorders. | Optic nerve involvement in metabolic disorders often results from apoptosis of cells that form or support the optic nerve, the retinal ganglion cell (RGC) axons, the myelin-forming oligodendrocytes, or the supporting vascular system. Given their high energy demands and the long course of their axons, RGCs are particula... |
2,336,635 | The effects of a genetic information leaflet on public attitudes towards genetic testing. | Genetics opinion surveys often include information to ensure that respondents have sufficient understanding to give informed responses. The information is assumed to be neutral but may skew responses. We assessed the impact of a seemingly "neutral" information leaflet on attitudes towards genetic testing among 1,024 su... |
2,336,636 | The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis. | Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations are associated with cystic fibrosis (CF)-related monosymptomatic conditions, including idiopathic pancreatitis. We evaluated prospectively enrolled patients who had idiopathic recurrent acute pancreatitis or idiopathic chronic pancreatitis, healt... |
2,336,637 | Combinatorial biosynthesis of lipopeptide antibiotics in Streptomyces roseosporus. | Daptomycin is a cyclic lipopeptide antibiotic produced by Streptomyces roseosporus. Cubicin (daptomycin-for-injection) was approved in 2003 by the FDA to treat skin and skin structure infections caused by Gram-positive pathogens. Daptomycin is particularly significant in that it represents the first new natural product... |
2,336,638 | Health beliefs of women with and without breast cancer seeking genetic cancer risk assessment. | Genetic cancer risk assessment (GCRA) is increasingly being incorporated into clinical care. Planning supportive nursing care for women seeking GCRA requires knowledge of their health beliefs. We described and compared the cancer risk-related beliefs of 134 women with a personal history of breast cancer (affected group... |
2,336,639 | Male infertility in reciprocal translocation carriers: the sex body affair. | Previous reports have linked chromosomal reorganization and spermatogenic failure. In this context, it has long been known that reciprocal translocation carriers are more likely to have anomalies in the meiotic process, including fertility failures. It has also been proposed that this fertility failure may be a consequ... |
2,336,640 | Sperm studies in heterozygote inversion carriers: a review. | The risk of producing unbalanced gametes in heterozygous inversion carriers mostly depends on the occurrence of recombination events within the inverted segment. Recombination determines the possibility of producing chromosomes with duplications/deficiencies (pericentric inversions) or with duplications/deficiencies wh... |
2,336,641 | Segregation of chromosomes in sperm of Robertsonian translocation carriers. | Robertsonian translocations are the most frequent structural chromosomal abnormalities in humans and can affect fertility, with various degrees of sperm alterations in men; or the pregnancy outcome of the carriers. The studies on meiotic segregation of chromosomes in sperm of Robertsonian translocation males find a maj... |
2,336,642 | A developmental and genetic classification for malformations of cortical development. | Increasing recognition of malformations of cortical development and continuing improvements in imaging techniques, molecular biologic techniques, and knowledge of mechanisms of brain development have resulted in continual improvement of the understanding of these disorders. The authors propose a revised classification ... |
2,336,643 | Is cannabis a gateway drug? Testing hypotheses about the relationship between cannabis use and the use of other illicit drugs. | We outline and evaluate competing explanations of three relationships that have consistently been found between cannabis use and the use of other illicit drugs, namely, (1) that cannabis use typically precedes the use of other illicit drugs; and that (2) the earlier cannabis is used, and (3) the more regularly it is us... |
2,336,644 | Population genetic analysis of 15 autosomal STRs loci in the central region of Argentina. | Allele frequencies, together with some parameters of forensic interest, for 15 STRs included in the Powerplex-16 System (CSF1PO, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, FGA, Penta D, Penta E, TH01, TPOX and VWA) were estimated from a sample set of 1368 unrelated individuals from three of the... |
2,336,645 | Diagnosis and management of rheumatoid arthritis. | Rheumatoid arthritis is a chronic inflammatory disease characterized by uncontrolled proliferation of synovial tissue and a wide array of multisystem comorbidities. Prevalence is estimated to be 0.8 percent worldwide, with women twice as likely to develop the disease as men. Untreated, 20 to 30 percent of persons with ... |
2,336,646 | Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. | Cystic fibrosis (CF) is one of the most common monogenic diseases affecting Caucasians and has an incidence of approximately 1:3,300 births. Currently recommended screening panels for mutations in the responsible gene (CF transmembrane regulator gene, CFTR) do not detect all disease-associated mutations. Our laboratory... |
2,336,647 | Prothrombin G20210A mutation in cases with recurrent miscarriage: a study of the mediterranean population. | Thrombophilic predisposition may be one of the underlying causes of recurrent miscariage (RM). The purpose of this study was to evaluate the Prothrombin G20210A mutation in cases with history of RM.</AbstractText>A total of 104 cases, 55 with diagnosis of RM and 49 control cases, were included in this controlled study.... |
2,336,648 | Biased estimators of quantitative trait locus heritability and location in interval mapping. | In many empirical studies, it has been observed that genome scans yield biased estimates of heritability, as well as genetic effects. It is widely accepted that quantitative trait locus (QTL) mapping is a model selection procedure, and that the overestimation of genetic effects is the result of using the same data for ... |
2,336,649 | Susceptibility patterns and molecular identification of Trichosporon species. | The physiological patterns, the sequence polymorphisms of the internal transcriber spacer (ITS), and intergenic spacer regions (IGS) of the rRNA genes and the antifungal susceptibility profile were evaluated for their ability to identify Trichosporon spp. and their specificity for the identification of 49 clinical isol... |
2,336,650 | TMC125 displays a high genetic barrier to the development of resistance: evidence from in vitro selection experiments. | TMC125 is a potent new investigational nonnucleoside reverse transcriptase inhibitor (NNRTI) that is active against human immunodeficiency virus type 1 (HIV-1) with resistance to currently licensed NNRTIs. Sequential passage experiments with both wild-type virus and NNRTI-resistant virus were performed to identify muta... |
2,336,651 | SIMPROT: using an empirically determined indel distribution in simulations of protein evolution. | General protein evolution models help determine the baseline expectations for the evolution of sequences, and they have been extensively useful in sequence analysis and for the computer simulation of artificial sequence data sets.</AbstractText>We have developed a new method of simulating protein sequence evolution, in... |
2,336,652 | The genetic factors in cancer development and their implications for cancer prevention and detection. | Experimental data from laboratory animals indicate that the same extent of DNA damage or the same mutations in oncogenes and tumor suppressor genes in different hosts result in widely differing cancer development because of numerous polymorphic tumor susceptibility genes. Similarly, recent epidemiological data indicate... |
2,336,653 | Genetic prion disease: the EUROCJD experience. | A total of 10-15% of human transmissible spongiform encephalopathies (TSEs) or prion diseases are characterised by disease-specific mutations in the prion protein gene (PRNP). We examined the phenotype, distribution, and frequency of genetic TSEs (gTSEs) in different countries/geographical regions. We collected standar... |
2,336,654 | Clinical myths of the cultural "other": implications for Latino patient care. | Cultural competency is now a requirement in the curriculum of many health professions. However, clinicians' understandings of cultural difference, the accuracy of those understandings, and their impact on patient care have not yet been carefully explored. The authors conducted an ethnographic study designed to describe... |
2,336,655 | Sensory abnormalities in unaffected relatives in familial adult-onset dystonia. | Somatosensory abnormalities are found in adult-onset primary torsion dystonia (PTD). Therefore we assessed spatial discrimination thresholds (SDT), a measure of spatial acuity, in four multiplex families with adult-onset PTD. In family members aged 20 to 45 years vs controls (mean + 2.5 SD), abnormal SDTs were found in... |
2,336,656 | Association of the H63D polymorphism in the hemochromatosis gene with sporadic ALS. | Iron misregulation promotes oxidative stress and abnormally high iron levels have been found in the spinal cords of patients with ALS. The authors investigated whether HFE gene polymorphisms, linked to hemochromatosis, are associated with ALS using two independent populations of patients with sporadic ALS and controls ... |
2,336,657 | DigiTag assay for multiplex single nucleotide polymorphism typing with high success rate. | As a consequence of Human Genome Project and single nucleotide polymorphism (SNP) discovery projects, several millions of SNPs, which include possible susceptibility SNPs for multifactorial diseases, have been revealed. Accordingly, there has been a strong drive to perform the investigation with all candidate SNPs for ... |
2,336,658 | Distributions of HLA class I alleles and haplotypes in Northern Han Chinese. | Human leukocyte antigen (HLA) class I allelic genotypes were determined in 105 unrelated Han ethnic individuals inhabiting the northern China area. A total of 19 HLA-A alleles, 49 HLA-B alleles and 24 HLA-Cw alleles were detected. Through the analyses of two and three loci haplotypes of HLA-A, HLA-B, and HLA-C loci, 11... |
2,336,659 | Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. | Until recently, individuals with premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene were believed to be psychologically unaffected. However, the recent documentation of abnormal elevation of FMR1 mRNA, discovery of fragile X-associated tremor/ataxia syndrome (FXTAS), and reports ... |
2,336,660 | The longitudinal relationship between processing speed and cognitive ability: genetic and environmental influences. | Goals of the present study were to investigate the relationship between age changes in speed and cognition and the genetic and environmental influences on that relationship. Latent growth models and quantitative genetic methods were applied to data from the Swedish Adoption/Twin Study of Aging. The sample included 778 ... |
2,336,661 | Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. | MECP2 mutations are identifiable in approximately 80% of classic Rett syndrome (RTT), but less frequently in atypical RTT. We recruited 110 patients who fulfilled the diagnostic criteria for Rett syndrome and were referred to Cardiff for molecular analysis, but in whom an MECP2 mutation was not identifiable. Dosage ana... |
2,336,662 | Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations. | Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by maternal deficiency of UBE3A (E6 associated protein ubiquitin protein ligase 3A gene... |
2,336,663 | The role of HLA-G in cytokine homeostasis during early pregnancy complicated with maternal infections: a novel etiopathological approach to the neurodevelopmental understanding of schizophrenia. | Schizophrenia is perhaps the most enigmatic and tragic psychotic disorder with remarkable mortality and morbidity. Schizophrenia is complex and clinically a heterogeneous disorder. The etiological basis of schizophrenia ranges from autoimmune to neurodevelopmental hypothesis in one hand and involvement of different maj... |
2,336,664 | The expected performance of single nucleotide polymorphism loci in paternity testing. | We discuss the utility of single nucleotide polymorphism loci for full trio and mother-unavailable paternity testing cases, in the presence of population substructure and relatedness of putative and actual fathers. We focus primarily on the expected number of loci required to gain specified probabilities of mismatches,... |
2,336,665 | Cystic fibrosis birth rates in Canada: a decreasing trend since the onset of genetic testing. | To estimate cystic fibrosis (CF) birth rates in Canada from 1971 to 2000 and to assess the population impact of genetic testing in families with a history of CF, after identification of the CF transmembrane conductance regulator gene in 1989.</AbstractText>Age-at-diagnosis data were obtained from the Canadian Cystic Fi... |
2,336,666 | Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis. | To evaluate the performance of a strategy in which, after immunoreactive trypsinogen (IRT) determination, genetic analysis is replaced by a biological test, the pancreatitis-associated protein (PAP) enzyme-linked immunosorbent assay (ELISA).</AbstractText>The French newborn screening program includes cystic fibrosis (C... |
2,336,667 | Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease. | In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown.</AbstractText>To evaluate a possible correlation between TNFalpha, IFNgamma and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients.</AbstractText>Sin... |
2,336,668 | Computational prediction of genotoxicity: room for improvement. | Decades of mutagenesis and clastogenesis studies have yielded enough structure-activity-relationship (SAR) information to make feasible the construction of computational models for prediction of endpoints based on molecular structure and reactivity. Although there is cause for optimism that these approaches might somed... |
2,336,669 | Prenatal screening for fetal face and clefting in a prospective study on low-risk population: can 3- and 4-dimensional ultrasound enhance visualization and detection rate? | A study of 1856 second trimester low-risk pregnancies was conducted over a period of 12 months to evaluate the detection rate of cleft lip and palate by 3- and 4-dimensional (3D, 4D) ultrasonography. To image the fetal face and profile, a protocol regarding the use of external or internal hand stimulation or a repeated... |
2,336,670 | Evaluation of linkage disequilibrium measures between multi-allelic markers as predictors of linkage disequilibrium between markers and QTL. | Effectiveness of marker-assisted selection (MAS) and quantitative trait loci (QTL) mapping using population-wide linkage disequilibrium (LD) between markers and QTL depends on the extent of LD and how it declines with distance in a population. Because marker-QTL LD cannot be observed directly, the objective of this stu... |
2,336,671 | [The relationship of affective temperament and clinical features in bipolar disorder]. | The aim of the present study was to investigate the relationship between affective temperaments and clinical features in bipolar disorder. Testing the relationships between phenomenological features, course, severity of episodes, overall severity of illness and comorbid conditions would clarify the reliability and vali... |
2,336,672 | Fine mapping of the polled locus to a 1-Mb region on bovine chromosome 1q12. | The absence of horns in Bos taurus is under genetic control of the autosomal dominant polled locus which has been genetically mapped to the centromeric region of cattle Chromosome 1. Recently a 4-Mb BAC contig of this chromosomal region has been constructed. Toward positional cloning of the bovine polled locus, we iden... |
2,336,673 | Effect of neuroprotective drugs on gene expression in G93A/SOD1 mice. | Gene expression analysis is a powerful tool that has been used to define the pathological processes underlying many diseases. Several laboratories, including our own, have used this approach to identify molecular abnormalities in the G93A/SOD1 mouse, an animal model of amyotrophic lateral sclerosis (ALS). Here, we repo... |
2,336,674 | Attention deficit hyperactivity disorder with reading disabilities: preliminary genetic findings on the involvement of the ADRA2A gene. | Attention deficit/hyperactivity disorder (ADHD) and reading disability (RD) tend to co-occur and quantitative genetic studies have shown this to arise primarily through shared genetic influences. However, molecular genetic studies have shown different genes to be associated with each of these conditions. Neurobiologica... |
2,336,675 | Common variable immunodeficiency: test indications and interpretations. | Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder that can present with multiple phenotypes, all of which are characterized by hypogammaglobulinemia, in a person at any age. A specific genetic defect that accounts for all CVID phenotypes has not been identified, and it is likely that severa... |
2,336,676 | POLG mutations in Alpers syndrome. | Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset.... |
2,336,677 | Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis. | An association between susceptibility to rheumatoid arthritis and the Fc receptor-like 3 gene (FCRL3) has been reported in a Japanese population. A case-control study showed that the strongest evidence of the association was derived from a polymorphism in the promoter region of FCRL3, which has a regulatory effect on t... |
2,336,678 | A new genetic test for the rapid identification of shiga-toxines producing (STEC), enteropathogenic (EPEC) E. coli isolates from children. | Routine bacteriological techniques do not allow detection of the most frequent enteric pathogens in young children: enteropathogenic Escherichia coli (EPEC) and shigatoxinogenic E. coli (STEC/EHEC). Since there is no correlation between serotype and pathotype, a genotypic determination is therefore necessary for the id... |
2,336,679 | Phase I clinical trial safety of DNA- and modified virus Ankara-vectored human immunodeficiency virus type 1 (HIV-1) vaccines administered alone and in a prime-boost regime to healthy HIV-1-uninfected volunteers. | DNA- and modified virus Ankara (MVA)-vectored candidate vaccines expressing human immunodeficiency virus type 1 (HIV-1) clade A-derived p24/p17 gag fused to a string of HLA class I epitopes, called HIVA, were tested in phase I trials in healthy, HIV-1/2-uninfected adults in Oxford, United Kingdom. Eighteen volunteers w... |
2,336,680 | Recurrent implantation failure in assisted reproduction: how to counsel and manage. B. Treatment options that have not been proven to benefit the couple. | The success of assisted reproduction, although gradually increasing over the years, is still less than satisfactory. Many couples have benefited from this treatment; however, many have also been left frustrated following multiple failed attempts. Couples who fail to conceive after multiple IVF/intracytoplasmic sperm in... |
2,336,681 | Preimplantation diagnosis and HLA typing for haemoglobin disorders. | Haemoglobin disorders are among the most frequent indications for preimplantation genetic diagnosis (PGD), introduced as an important option to couples at risk for producing offspring with thalassaemia and sickle cell disease. Previous experience mainly included PGD for beta-thalassaemia, while PGD for alpha-thalassaem... |
2,336,682 | Association analysis of the RGS4 gene in Han Chinese and Scottish populations with schizophrenia. | We investigated the RGS4 as a susceptibility gene for schizophrenia in Chinese Han (184 trios and 138 sibling pairs, a total of 322 families) and Scottish (580 cases and 620 controls) populations using both a family trio and case-control design. Both the samples had statistical power greater than 70% to detect a hetero... |
2,336,683 | ApoE -491A/T promoter polymorphism is not an independent risk factor, but associated with the epsilon4 allele in Hungarian Alzheimer's dementia population. | Apolipoprotein E gene (Apo(epsilon)) has three common alleles (epsilon2, epsilon3, and epsilon4), of which epsilon4 has been shown to be associated with an increased risk for Alzheimer's disease (AD). Possible additional genetic factors, like the -491A variant of ApoE promoter may modify the development of AD, independ... |
2,336,684 | Large-scale search of single nucleotide polymorphisms for hepatocellular carcinoma susceptibility genes in patients with hepatitis C. | Hepatitis C virus (HCV) infection is a major risk factor for developing hepatocellular carcinoma (HCC). The host genetic factors that are involved in the development of HCC in patients with HCV infection remain to be investigated. To search for single nucleotide polymorphisms (SNPs) in HCC susceptibility genes, 393 SNP... |
2,336,685 | Assessment of the effect of age at onset on linkage to bipolar disorder: evidence on chromosomes 18p and 21q. | Previous evidence suggests that the inheritance of bipolar disorder (BP) may vary depending on the age at onset (AAO). Therefore, we sought to incorporate AAO as a covariate in linkage analyses of BP using two different methods, LODPAL and ordered-subset analysis (OSA), in genomewide scans of 150 multiplex pedigrees wi... |
2,336,686 | Definition of immunogenic carbohydrate epitopes. | Carbohydrates are known as sources of immunological cross-reactivity of allergenic significance. In celery and in cypress pollen, the major allergens Api g 5 and Cup a 1 are recognised by antisera raised against anti-horseradish peroxidase and by patients' IgE which apparently bind carbohydrate epitopes; mass spectrome... |
2,336,687 | Genetics of Parkinson's disease. | The past few years, mutations in 5 genes (a-synuclein, parkin, DJ-1, PINK1, and LRRK2) have been firmly implicated, and additional chromosomal loci have been mapped for inherited forms of Parkinson's disease (PD). These discoveries have profound implications for both the scientific and clinical communities. First, alth... |
2,336,688 | Expression profiling of colon cancer cell lines and colon biopsies: towards a screening system for potential cancer-preventive compounds. | Interest in mechanisms of colon cancer prevention by food compounds is strong and research in this area is often performed with cultured colon cancer cells. In order to assess utility for screening of potential cancer-preventive (food) compounds, expression profiles of 14 human cell lines derived from colonic tissue we... |
2,336,689 | Risk of ovarian cancer in BRCA1 and BRCA2 mutation-negative hereditary breast cancer families. | Women from site-specific hereditary breast cancer families who carry a BRCA1 or BRCA2 mutation are at increased risk for ovarian cancer. It is less clear, however, whether individuals from hereditary breast cancer families who do not carry such a mutation are also at increased ovarian cancer risk. To determine whether ... |
2,336,690 | Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. | Although most cases of hereditary haemochromatosis are associated with homozygosity for the C282Y mutation of the HFE gene, clinical penetrance varies and other genes may modify disease expression. If so, relatives from clinically affected families, by inheriting such genes, may accumulate more iron. To seek evidence f... |
2,336,691 | Systemic lupus erythematosus and the extended major histocompatibility complex--evidence for several predisposing loci. | Systemic lupus erythematosus (SLE) is an autoimmune disease reported to be associated with several alleles in the HLA complex. The purpose of this study was to systematically examine the extended HLA complex (xMHC) in order to get an overview of the primary predisposing genetic factors.</AbstractText>One hundred and si... |
2,336,692 | Will nicotine genetics and a nicotine vaccine prevent cigarette smoking and smoking-related diseases? | Hall argues that the preventive use of genetic and vaccine biotechnologies is a superficially attractive tobacco policy option of doubtful efficacy, cost-effectiveness, and ethicality. |
2,336,693 | Assessment of the genetic risk and impact of lateral transmission in a valine-associated scrapie outbreak in sheep. | To characterize an outbreak of valine-associated scrapie, assess the relative risk of scrapie infection in relation to allele frequency at codon 136, and investigate lateral transmission of infection in a sheep flock within the United States.</AbstractText>1,006 sheep.</AbstractText>To determine genotypes, blood or sem... |
2,336,694 | Preparing African-American men in community primary care practices to decide whether or not to have prostate cancer screening. | This study was a randomized trial to test the impact of an informed decision-making intervention on prostate cancer screening use.</AbstractText>The study population included 242 African-American men from three primary care practices who were 40-69 years of age and had no history of prostate cancer. Participants comple... |
2,336,695 | Analysis of drug resistance-associated mutations in treatment-naïve individuals infected with different genetic forms of HIV-1 circulating in countries of the former Soviet Union. | There are few data on drug resistance-associated mutations in the former Soviet Union since, studies have usually been focused on the env or gag genes for subtype information. This study examines the prevalence and patterns of resistance-associated mutations to reverse transcriptase and protease inhibitors (RTI, PRI) i... |
2,336,696 | The paternal gene of the DDK syndrome maps to the Schlafen gene cluster on mouse chromosome 11. | The DDK syndrome is an early embryonic lethal phenotype observed in crosses between females of the DDK inbred mouse strain and many non-DDK males. Lethality results from an incompatibility between a maternal DDK factor and a non-DDK paternal gene, both of which have been mapped to the Ovum mutant (Om) locus on mouse ch... |
2,336,697 | A review of family donor constructs: current research and future directions. | This review addresses research on gamete donors, recipients, and offspring and demonstrates that the foci on all three within the triad are largely directed at disclosure or anonymity; and each in turn centers on the perceived importance of the genetic link. The importance attached to genetics has led some countries to... |
2,336,698 | ProbeMaker: an extensible framework for design of sets of oligonucleotide probes. | Procedures for genetic analyses based on oligonucleotide probes are powerful tools that can allow highly parallel investigations of genetic material. Such procedures require the design of large sets of probes using application-specific design constraints.</AbstractText>ProbeMaker is a software framework for computer-as... |
2,336,699 | [Implications of pharmacogenetics in every-day practice]. | Pharmacogenetics as one of the areas of clinical pharmacology addresses hereditary factors involved in individually different responses to drugs. Clinical trials combined with molecular genetics seek for underlying reasons influencing efficacy and toxicity of drugs. The declared goal of pharmacogenetics is to provide p... |
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