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2,339,300 | Intrusion detection using rough set classification. | Recently machine learning-based intrusion detection approaches have been subjected to extensive researches because they can detect both misuse and anomaly. In this paper, rough set classification (RSC), a modern learning algorithm, is used to rank the features extracted for detecting intrusions and generate intrusion d... |
2,339,301 | Transmission-ratio distortion and allele sharing in affected sib pairs: a new linkage statistic with reduced bias, with application to chromosome 6q25.3. | We studied the effect of transmission-ratio distortion (TRD) on tests of linkage based on allele sharing in affected sib pairs. We developed and implemented a discrete-trait allele-sharing test statistic, Sad, analogous to the Spairs test statistic of Whittemore and Halpern, that evaluates an excess sharing of alleles ... |
2,339,302 | Evidence of a role for the 5-HTTLPR genotype in the modulation of motor response to antidepressant treatment. | Serotonergic mechanisms are thought to play an important role in the regulation of mood, motor activity and sleep patterns. Serotonin reuptake is controlled by the serotonin transporter (5-HTT) and by a common functional insertion/deletion polymorphism in the corresponding gene's promoter region (5-HTTLPR). Homozygosit... |
2,339,303 | [Recurrent bouts of fever accompanied by abdominal pain and emesis]. | A 34 year-old Turkish patient was admitted to hospital several times with the same symptoms of abdominal pain, fever up to 39.2 degrees C and vomiting. The diagnosis always was an acute attack of chronic pancreatitis. The inflammation scores in the blood were high and he had a moderate increase in pancreatic enzymes. H... |
2,339,304 | Promise and challenge: Markers of prostate cancer detection, diagnosis and prognosis. | Approximately 1 man in 6 will be diagnosed with prostate cancer during his life lifetime, and over 200,000 men in the U.S. are diagnosed with prostate cancer annually. Since the widespread adoption of PSA testing, about 60-70% of men at risk in the U.S. have had a blood test for prostate cancer. With this, prostate can... |
2,339,305 | Drug resistance testing provides evidence of the globalization of HIV type 1: a new circulating recombinant form. | To monitor HIV-1 diversity in Argentina, a phylogenetic-based analysis of HIV-1 partial pol sequences obtained for resistance testing in 587 treatment failure patients was performed in Buenos Aires city between 2001 and 2003. HIV-1 RNA was isolated from plasma samples and partial pol fragments amplified by RT-PCR. Sequ... |
2,339,306 | Selective occurrence of ras mutations in benign and malignant thyroid follicular neoplasms in Taiwan. | Previous studies have demonstrated that point mutations in all three ras genes (H-ras, K-ras, and N-ras) may occur in thyroid neoplasia. However, the overall incidence of ras mutations in thyroid tumors and their frequency in specific histologic types varies widely in different series. Many earlier studies have chosen ... |
2,339,307 | Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin. | The possibility of germline mutations of the RET proto-oncogene (exons 10, 11, 13, 14, and 16) was investigated in 75 patients (57 men, 18 women) with a negative family history for medullary thyroid carcinoma (MTC), elevated (> 10 pg/mL) basal serum concentrations of human calcitonin (hCT) and a pentagastrin (PG)-st... |
2,339,308 | A novel method for screening viral interferon-resistance genes. | Many viruses have evolved mechanisms to antagonize the interferon (IFN) system, targeting all the major components involved in receptor binding and signaling. Although a number of these vital proteins are homologous to cellular proteins involved in IFN downregulation (e.g., viral IFN regulatory factors [vIRFs]), many s... |
2,339,309 | Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey. | The C282Y and H63D mutations of HFE gene are associated with hereditary hemochromatosis (HH), the most common autosomal recessive disorder in European population. This is the first Turkish population study of, the prevalence of these mutations.</AbstractText>2677 healthy volunteer blood donors were screened by means of... |
2,339,310 | Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis. | Direct testing of the outcome of the first and second meiotic divisions has become possible with the introduction of preimplantation genetic diagnosis (PGD) for aneuploidies. Testing of oocytes by fluorescent in situ hybridization (FISH) analysis of the first and second polar bodies showed that more than half of oocyte... |
2,339,311 | Single nucleotide polymorphisms and haplotype frequencies of UGT2B4 and UGT2B7 in a Japanese population. | Both UDP-glucuronosyltransferase 2B4 (UGT2B4) and UGT2B7 are expressed mainly in the human liver and have several overlapping substrates; e.g., catechol estrogens, bile acids, codeine, and carvedilol. To identify novel single nucleotide polymorphisms (SNPs) and haplotypes in a Japanese population, the enhancer/promoter... |
2,339,312 | Multiplexed genetic analysis using an expanded genetic alphabet. | All states require some kind of testing for newborns, but the policies are far from standardized. In some states, newborn screening may include genetic tests for a wide range of targets, but the costs and complexities of the newer genetic tests inhibit expansion of newborn screening. We describe the development and tec... |
2,339,313 | Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. | Mutations in TERC, encoding the RNA component of telomerase, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA). Several polymorphisms also exist in the TERC gene, making functional testing of potential pathogenic mutations essential. Here, we have tested normal and mutant TERC m... |
2,339,314 | BRCA1 and BRCA2 mutations as prognostic factors in bilateral breast cancer patients. | Incidence of primary bilateral breast cancer (BC) is rare and does not exceed 5%. BRCA1/2 mutation carriers diagnosed with breast cancer have a strong life time risk of developing contralateral breast cancer (53% versus 2%).</AbstractText>A group of 108 patients with bilateral breast cancer, who reported at our Cancer ... |
2,339,315 | Genetic associations of prolificacy with performance, carcass, meat quality, and leg conformation traits in the Finnish Landrace and Large White pig populations. | The objective of this study was to estimate genetic associations of prolificacy traits with other traits under selection in the Finnish Landrace and Large White populations. The prolificacy traits evaluated were total number of piglets born, number of stillborn piglets, piglet mortality during suckling, age at first fa... |
2,339,316 | Screening and optimizing protein production in E. coli. | Significant improvements in the technologies used for protein production have been driven by impending genome-scale proteomics projects. These initiatives have favored Escherichia coli-based expression systems, which allow rapid cloning and expression of proteins at low cost. The range of commercially available molecul... |
2,339,317 | Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. | Cleft lip or palate (or the two in combination) is a common birth defect that results from a mixture of genetic and environmental factors. We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene.</... |
2,339,318 | Y-SNP typing of U.S. African American and Caucasian samples using allele-specific hybridization and primer extension. | Multiplex analysis of genetic markers has become increasingly important in a number of fields, including DNA diagnostics and human identity testing. Two methods for examination of single nucleotide polymorphisms (SNPs) with a potential for a high degree of multiplex analysis of markers are primer extension with fluores... |
2,339,319 | Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. | Glycogen storage disease type Ia (GSDIa) is a severe autosomal recessive disorder caused by deficiency of the enzyme D-glucose-6-phosphatase (G6Pase). While numerous mutations have been found in cosmopolitan European populations, Ashkenazi Jewish (AJ) patients appear to primarily carry the R83C mutation, but possibly a... |
2,339,320 | Worry about ovarian cancer risk and use of screening by high-risk women: how you recruit affects what you find. | Several studies have described the characteristics of women at high-risk for ovarian cancer who are participating in registry studies and high-risk screening programs. These studies have found high-risk women to report high levels of perceived risk and worry about their risk for ovarian cancer. In contrast, population ... |
2,339,321 | Carrier detection in severe von Willebrand's disease. | Von Willebrand's disease (vWD) is an inherited bleeding disorder, caused by a defect of von Willebrand's factor (vWF), a multimeric high molecular weight glycoprotein. It is sub-characterised into types 1, 2 and 3 vWD depending on quantitative or qualitative defect of vWF. Prenatal diagnosis and carrier detection are o... |
2,339,322 | Arylamine N-acetyltransferase 2 slow acetylator polymorphisms in unrelated Iranian individuals. | To determine the frequency of mutations at the polymorphic gene coding for arylamine N-acetyltransferase 2 (NAT2, EC 2.3.1.5) and NAT2 genotypes associated with slow acetylation in healthy Iranian individuals.</AbstractText>The polymorphisms in the NAT2 gene from 88 unrelated healthy subjects (48 men/40 women) from the... |
2,339,323 | Prevalence of coeliac disease in patients with sarcoidosis. | Susceptibility to sarcoidosis and coeliac disease has been linked to the class II haplotype HLA-DR3, DQ2, and an association between the two disorders has been suggested. As a pilot study, we have sought to determine the prevalence of coeliac disease in a cohort of Irish patients with sarcoidosis.</AbstractText>Prospec... |
2,339,324 | Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. | In Ireland, the homozygote frequency of the C282Y mutation in the HFE gene is 1/83. The biochemical expression of this mutation is high in haemochromatosis (HH) individuals identified through family screening, but the clinical expression of the mutation in Irish HH subjects to date has not been investigated fully.</Abs... |
2,339,325 | Haemochromatosis: find them or forget about them? | Haemochromatosis continues to be considered an uncommon disease despite large scale population screening studies demonstrating a high prevalence of C282Y homozygotes of approximately 1 in 200. Since many of the C282Y homozygotes that are discovered through screening are asymptomatic, or have non-specific symptoms commo... |
2,339,326 | Microsatellite marker data suggest sex-biased dispersal in the common frog Rana temporaria. | Despite being important models in ecological, evolutionary and conservation biology research, very little is known about the dispersal in anuran amphibians, and juvenile dispersal in particular. Using microsatellite data, we assessed signatures of sex-biased migration in the common frog (Rana temporaria) in Scandinavia... |
2,339,327 | Testing the utility of internally transcribed spacer sequences in coral phylogenetics. | Reef-building corals often possess high levels of intraindividual and intraspecific ribosomal DNA (rDNA) variation that is largely polyphyletic between closely related species. Polyphyletic rDNA phylogenies coupled with high intraindividual rDNA variation have been taken as evidence of introgressive hybridization in co... |
2,339,328 | Candidate genes, pathways and mechanisms for bipolar (manic-depressive) and related disorders: an expanded convergent functional genomics approach. | Identifying genes for bipolar mood disorders through classic genetics has proven difficult. Here, we present a comprehensive convergent approach that translationally integrates brain gene expression data from a relevant pharmacogenomic mouse model (involving treatments with a stimulant--methamphetamine, and a mood stab... |
2,339,329 | Distribution of Clostridium difficile variant toxinotypes and strains with binary toxin genes among clinical isolates in an American hospital. | Genetic variants of Clostridium difficile have been reported with increasing frequency, but their true incidence is unknown. C. difficile strains have been classified into variant toxinotypes according to variations in the pathogenicity locus encoding the major virulence factors, toxins A and B. Some strains produce an... |
2,339,330 | Public interest in genetic testing for susceptibility to heart disease and cancer: a population-based survey in the UK. | Given the current concerns about the clinical validity of commercially marketed genetic tests for multifactorial diseases, there is a surprising dearth of information about what public demand might be for genetic tests for any complex diseases other than cancer. The aim of this study was to examine interest in genetic ... |
2,339,331 | C57BL/6J and DBA/2J mice differ in extinction and renewal of extinguished conditioned fear. | While a number of studies have examined the acquisition and expression of conditioned fear in inbred mice, very few have examined extinction of conditioned fear in inbred mice and few attempts have been made to compare extinction learning between inbred strains. Because inbred strains differ in a number of physiologica... |
2,339,332 | MCP-1 in Alzheimer's disease patients: A-2518G polymorphism and serum levels. | MCP-1 levels are increased in CSF of patients with Alzheimer's disease (AD) compared with controls, suggesting a role in the development of dementia. Recently, a biallelic A/G polymorphism in the MCP-1 promoter at position -2518 has been found, influencing the level of MCP-1 expression in response to an inflammatory st... |
2,339,333 | "Important to test, important to support": attitudes toward disability rights and prenatal diagnosis among leaders of support groups for genetic disorders in Israel. | To situate the North American, and to some extent, European debate regarding disability rights and prenatal diagnosis in a social and cross-cultural context, this pilot study explored the views of leaders of organizations for disability rights and support groups for people with genetic conditions in Israel, where a sim... |
2,339,334 | A polymorphism of the beta1-adrenergic receptor is associated with low extraversion. | We examined the possibility that allelic variation leading to alterations in beta(1)-adrenergic function might be present in persons with elevated social anxiety-related traits.</AbstractText>A sample of 504 undergraduate college students were phenotyped on a personality inventory (the NEO-Personality Inventory-Revised... |
2,339,335 | Quantitative trait loci that modulate femoral mechanical properties in a genetically heterogeneous mouse population. | The goal of this study was to investigate genetic effects on mechanical properties of the mouse femur. We found evidence for QTL on eight chromosomes that affect mechanical traits. Some of these QTL may have primary effects on body weight or femoral geometry, and others seem to affect bone quality directly.</AbstractTe... |
2,339,336 | [Progress and prospects of HLA genotyping technology]. | Over a long period of time, studies on HLA structure and function have been the research hotspots. for it is very important to understand the essential of life science and disease mechanism. With the rapid development of molecular biology, HLA typing makes great progress. It has changed from traditional serological typ... |
2,339,337 | [Application of chi-square test and exact test in Hardy-Weinberg equilibrium testing]. | This article review the application of chi-square test of various data handling methods and exact test in Hardy-Weinberg equilibrium testing of human genetic marker in population genetics. The importance of HWE-exact test in multiallelic system was emphasized, especially in the study of forensic VNTR and STR typing. |
2,339,338 | [Research on the application feasibility of HLA-DRB1 genotyping for forensic identification by oligonucleotide chip]. | Research on the application feasibility of HLA-DRB1 genotyping for forensic identification by oligonucleotide chip.</AbstractText>Population studies on HLA-DRB1 was carried out in a sample of 561 unrelated Chinese Han individuals using oligonucleotide arrays for genotype detection. Meanwhile, we explored the feasibilit... |
2,339,339 | Randomized trial of a shared decision-making intervention consisting of trade-offs and individualized treatment information for BRCA1/2 mutation carriers. | To evaluate a shared decision-making intervention (SDMI) for BRCA1/2 mutation carriers who have to make a choice between screening and prophylactic surgery for breasts and/or ovaries.</AbstractText>The SDMI consisted of two value assessment sessions, using the time trade-off method, followed by individualized treatment... |
2,339,340 | Role of excess inorganic pyrophosphate in primer-extension genotyping assays. | We have developed and genotyped >15,000 SNP assays by using a primer extension genotyping assay with fluorescence polarization (FP) detection. Although the 80% success rate of this assay is similar to those of other SNP genotyping assays, we wanted to determine the reasons for the failures and find ways to improve t... |
2,339,341 | A 4q35.2 subtelomeric deletion identified in a screen of patients with co-morbid psychiatric illness and mental retardation. | Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various severities of ... |
2,339,342 | Clinical features and mismatch repair gene mutation screening in Chinese patients with hereditary nonpolyposis colorectal carcinoma. | Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominantly-inherited cancer-susceptibility syndrome that confers an increased risk for colorectal cancer and a variety of other tumors at a young age. It has been associated with germline mutations in five mismatch repair (MMR) genes (hMSH2, hMLH1, hPMS1... |
2,339,343 | Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. | Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and direct sequence analyses in 20 MPS IVA patients from Latin America. In this study, 12 different gene mutatio... |
2,339,344 | High throughput multiple combination extraction from large scale polymorphism data by exact tree method. | Single nucleotide polymorphisms (SNPs) are increasingly becoming important in clinical settings as useful genetic markers. For the evaluation of genetic risk factors of multifactorial diseases, it is not sufficient to focus on individual SNPs. It is preferable to evaluate combinations of multiple markers, because it al... |
2,339,345 | Prevention of colorectal cancer through the use of COX-2 selective inhibitors. | Colorectal cancer is a major cause of morbidity and mortality accounting for an estimated 550,000 deaths annually worldwide. Colonic neoplasia develops in a stepwise fashion progressing from normal mucosa to adenomatous polyps to carcinoma, a process that takes years, thereby providing a prime opportunity for intervent... |
2,339,346 | [Mitochondrial A1555G mutation. Molecular genetic diagnosis in sporadic cases of non-syndromic hearing impairment]. | The A1555G mutation in mitochondrial DNA is the cause of hearing impairment in about 50% of all carriers. The severity and onset of this impairment is predominantly affected by the use of aminoglycosides.</AbstractText>A total of 391 patients displaying sporadic, non-syndromic, mild to severe hearing impairment were an... |
2,339,347 | Screening for candidate gene regions in narcolepsy using a microsatellite based approach and pooled DNA. | Narcolepsy is a complex sleep disorder characterized by excessive daytime sleepiness and cataplexy. Mutations in genes of the hypocretin (orexin) neurotransmitter system cause narcoleptic symptoms in animal models. The absence of hypocretin in the cerebrospinal fluid of human patients is hypothesized to originate from ... |
2,339,348 | Construction of robust prognostic predictors by using projective adaptive resonance theory as a gene filtering method. | For establishing prognostic predictors of various diseases using DNA microarray analysis technology, it is desired to find selectively significant genes for constructing the prognostic model and it is also necessary to eliminate non-specific genes or genes with error before constructing the model.</AbstractText>We appl... |
2,339,349 | Outcome signature genes in breast cancer: is there a unique set? | Predicting the metastatic potential of primary malignant tissues has direct bearing on the choice of therapy. Several microarray studies yielded gene sets whose expression profiles successfully predicted survival. Nevertheless, the overlap between these gene sets is almost zero. Such small overlaps were observed also i... |
2,339,350 | Molecular screening of the human glutamine-fructose-6-phosphate amidotransferase 1 (GFPT1) gene and association studies with diabetes and diabetic nephropathy. | Increased glucose metabolism through the hexosamine pathway may result in insulin resistance, impaired insulin secretion, and diabetic nephropathy. We hypothesized that variants of GFPT1 encoding glutamine-fructose-6-phosphate amidotransferase, the rate limiting enzyme in this pathway, could increase GFPT1 gene express... |
2,339,351 | [Sample size requirements for association studies on gene-gene interaction in case-control study]. | Sample size requirements for association studies on gene-gene interaction in case-control study.</AbstractText>Selecting different parameters (such as inheritance mode, susceptibility frequency, frequency of allele for disease, OR of gene main effect) and infilling them into QUANTO software based on conditional logisti... |
2,339,352 | Diagnosis of 6 mercaptopurine hepatotoxicity post liver transplantation utilizing metabolite assays. | Azathioprine and 6-mercaptopurine (6 MP) are commonly used as immunosuppression postsolid organ transplantation. Recently, a better understanding of the metabolism of these drugs has developed. 6 Mercaptopurine is metabolized by thiopurine methyl transferase (TPMT) which is under the control of a common genetic polymor... |
2,339,353 | Association of single nucleotide polymorphisms in the thrombopoietin-receptor gene, but not the thrombopoietin gene, with differences in platelet count. | Little is known about the mechanisms explaining the wide variation in platelet counts (PLT) and other hematologic parameters in humans. We previously showed that the sex-based difference in hematocrit was associated with nucleotide variation in the erythropoietin receptor gene (EPOR). We sought to identify new polymorp... |
2,339,354 | Polymorphism distribution of Int13, Int22, and St14 VNTRs in a Mexican population and their application in carrier diagnosis of hemophilia A. | Variable nucleotide tandem repeats (VNTR) Int13, Int22, and St14 were analyzed to determine polymorphic distribution in normal individuals from Mexico's central region and their efficacy in detecting hemophilia A carriers. Polymerase chain reaction (PCR) was carried out on 166 X chromosomes from unrelated Mexicans, and... |
2,339,355 | In vivo transfection of a cis element 'decoy' against signal transducers and activators of transcription 6 (STAT6)-binding site ameliorates IgE-mediated late-phase reaction in an atopic dermatitis mouse model. | Signal transducers and activators of transcription 6 (STAT6) play a crucial role in the transactivation of IL-4 and IL-13, which might be involved in the pathogenesis of atopic dermatitis (AD). We herein reported that the IgE-mediated late-phase reaction significantly decreased in STAT6-deficient (STAT6(-/-)) mice in A... |
2,339,356 | Safety and biodistribution studies of an HSV multigene vector following intracranial delivery to non-human primates. | Malignant glioma is a fatal human cancer in which surgery, chemo- and radiation therapies are ineffective. Therapeutic gene transfer used in combination with current treatment methods may augment their effectiveness with improved clinical outcome. We have shown that NUREL-C2, a replication-defective multigene HSV-based... |
2,339,357 | Isozyme polymorphism and genetic structure of the population of Sorbus torminalis (L.) Crantz from the Bytyń Forest (Poland). | Dormant buds collected from 35 wild service trees (Sorbus torminalis) in the Bytyń Forest were tested with horizontal gel electrophoresis to assess the genetic structure of the population. Among 16 investigated isozyme loci, seven loci (ADH-A, 6PGD-A, GDH-B, ME-A, SOD-A, PGM-A, PGM-B) proved to be polymorphic, wh... |
2,339,358 | Habitat fragmentation causes bottlenecks and inbreeding in the European tree frog (Hyla arborea). | A genetic study of the European tree frog, Hyla arborea, in Denmark was undertaken to examine the population structure on mainland Jutland and the island of Lolland after a period of reduction in suitable habitat and population sizes. The two regions have experienced the same rate of habitat loss but fragmentation has ... |
2,339,359 | Transport of North Sea cod larvae into the Skagerrak coastal populations. | The Atlantic cod (Gadus morhua) is economically one of the world's most important marine species--a species presently suffering from heavy overexploitation throughout its range of distribution. Although not fully understood, the Atlantic cod is believed to be structured into populations in a rather complex manner, wher... |
2,339,360 | Differentiating age-related memory loss from early dementia. | Memory loss occurs in more than 40% of individuals older than age 60. Alzheimer's disease (AD) or another type of dementia develops in some of these people, but others remain healthy. There is currently no reliable way to distinguish between these 2 outcomes. |
2,339,361 | Bilateral persistent fetal vasculature associated with holoprosencephaly. | A 3.26-kg neonate with a gestational age of 40 weeks presented with episodic hypothermia and seizures, but stable vital signs. Semilobar holoprosencephaly was seen on magnetic resonance imaging. Ocular examination revealed bilateral persistent fetal vasculature. As genetic testing was not contributory, toxic intrauteri... |
2,339,362 | First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness. | This study evaluates the prevalence of 35delG GJB2 mutation, the most common genetic mutation causing prelingual deafness, and its screening feasibility and acceptability in pregnant women undergoing first-trimester CVS for chromosomal abnormality investigation.</AbstractText>Samples were taken from 5786 pregnant women... |
2,339,363 | Detecting epistatic interactions contributing to quantitative traits. | The restricted partition method (RPM) is a partitioning algorithm for examining multi-locus genotypes as (potentially non-additive) predictors of a quantitative trait. The motivating application was to develop a robust method to examine quantitative phenotypes for epistasis (gene-gene interactions), but the method can ... |
2,339,364 | New approach to association testing in case-parent designs under informative parental missingness. | The transmission/disequilibrium test (TDT) and related methods using genotype data on diseased probands and their both parents (triads) have been popular for testing linkage or association between a disease and a candidate gene. The usefulness of the TDT-type approaches lies mainly in their robustness, in the sense tha... |
2,339,365 | Estimating penetrance from family data using a retrospective likelihood when ascertainment depends on genotype and age of onset. | In diseases caused by deleterious gene mutations, knowledge of age-specific cumulative risks is necessary for medical management of mutation carriers. When pedigrees are ascertained through several affected persons, ascertainment bias can be corrected by using a retrospective likelihood. This likelihood is a function o... |
2,339,366 | HLA-DRB1*04 and HLA-DQB1*03 association with the atrophic but not with the goitrous form of chronic autoimmune thyroiditis in a Brazilian population. | Autoimmune chronic lymphocytic thyroiditis appears in two forms, goitrous and atrophic. The evidence available is not enough to prove that the goitrous precedes the atrophic form, but immunogenetic analysis suggests that they may be distinct entities. The distribution of HLA class II alleles DRB1* and DQB1* was verifie... |
2,339,367 | Risk of mosaicism and uniparental disomy associated with the prenatal diagnosis of a non-homologous Robertsonian translocation carrier. | To estimate the fetal risk of uniparental disomy (UPD) associated with the presence of a Robertsonian translocation (RT) in a parent or in the fetus, to determine whether it is clinically indicated to test these pregnancies for UPD.</AbstractText>Retrospective analysis of our Centre's experience in testing prenatal spe... |
2,339,368 | Analysis of 5-hydroxytryptamine 2c receptor gene promoter variants as alcohol-dependence risk factors. | To examine whether polymorphic variants of the HTR2C gene are associated with diagnosis of alcohol dependence.</AbstractText>We compared allele frequencies of five HTR2C promoter polymorphisms in a Nordic population of alcohol dependent individuals (Males: n = 309; Females: n = 127) and ethnically matched controls (Mal... |
2,339,369 | Study on the haplotypes of MICA and MICB microsatellite and HLA-B locus in the Guangzhou Han population. | The purpose of this study was to investigate the genetic polymorphisms and haplotypes of microsatellite locus in exon 5 of the MICA gene and intron 1 of the MICB gene and human leukocyte antigen-B (HLA-B) gene based on 106 samples of the Guangzhou Han population through means of polymerase chain reaction and the fluore... |
2,339,370 | Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening. | As well as characteristic increases in C(8) carnitine, dried blood spot samples from 11 newborns with medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry screening using butyl esters showed apparent increases in glutarylcarnitine (m / z 388 signals). In four of the newborns in which it w... |
2,339,371 | Neuronal accumulation of abnormal prion protein in sheep carrying a scrapie-resistant genotype (PrPARR/ARR). | The susceptibility of sheep to scrapie infection is influenced by prion gene alleles, which are modulated by polymorphic variations corresponding to amino acid positions 136, 154 and 173 of the prion protein (PrP). As no unquestioned report of a diseased sheep carrying homozygous alleles encoding alanine, arginine and ... |
2,339,372 | Over a decade of experience with preimplantation genetic diagnosis. | The three respondents provide additional support for preimplantation genetic diagnosis (PGD) having the pivotal place it now has in prenatal genetic diagnosis: chromosomal abnormalities (e.g., unbalanced translocations), Mendelian disorders, and HLA typing for transfer of compatible, genetically normal, embryos. Transf... |
2,339,373 | Ten years of preimplantation genetic diagnosis-aneuploidy screening: review of a multicenter report. | Preimplantation genetic diagnosis of day 3 human embryos by fluorescent in situ hybridization has over the past 10 years increased in use as a screen for aneuploidy. Routine screening of preimplantation embryos to increase implantation rates awaits further refinements in handling techniques and testing assays. |
2,339,374 | Research must continue on preimplantation genetic diagnosis methodologies. | Further research is required to enable a larger pool of appropriate patients to benefit from preimplantation genetic diagnosis. |
2,339,375 | Moving to blastocyst biopsy for preimplantation genetic diagnosis and single embryo transfer at Sydney IVF. | Developments at Sydney IVF in the successful culture of blastocysts, combined with day 5 or 6 blastocyst biopsy and blastocyst cryostorage after biopsy, permit up to five or six cells to be genetically tested, leaving the inner cell mass intact and enabling embryos to be electively transferred one at a time. These adva... |
2,339,376 | Over a decade of experience with preimplantation genetic diagnosis: a multicenter report. | To review a 12-year experience of the world's three largest preimplantation genetic diagnosis (PGD) centers.</AbstractText>Multicenter analysis of the clinical outcome of PGD.</AbstractText>In vitro fertilization programs at the Reproductive Genetics Institute, Chicago, Illinois; Saint Barnabas Medical Center, West Ora... |
2,339,377 | Embryo screening for tissue matching. | Parents with children who need a hematopoietic stem cell transplant are increasingly using preimplantation genetic diagnosis to have a well-matched sibling donor. Preimplantation genetic diagnosis may ethically be used for this purpose even if the resulting child is not at risk of inheritable disease. |
2,339,378 | FACE facts: why human genetics will always provoke bioethics. | Some people dispute the relative importance of issues in genetics and biotechnology for the future of bioethics, either because they think the problems are time-limited or because they give priority to issue of human rights and social justice in health care. In fact, the special historical standing of genetic issue s i... |
2,339,379 | Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. | The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a history of multiple fractures by adolescence. With one exception, ... |
2,339,380 | Infevers: an evolving mutation database for auto-inflammatory syndromes. | The Infevers database (http://fmf.igh.cnrs.fr/infevers/) was established in 2002 to provide investigators with access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome ... |
2,339,381 | Positive maternal serum triple test screening in severe early onset hypophosphatasia. | Hypophosphatasia is a rare heritable inborn error of metabolism characterized by a liver/bone/kidney alkaline phosphatase defective bone mineralization due to mutations in the tissue-non-specific alkaline phosphatase (TNS-ALP) gene. To date 128 mutations are described in the TNS-ALP gene located on the short arm of chr... |
2,339,382 | Screen for expanded FMR1 alleles in patients with essential tremor. | Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disorder, was described recently among male carriers of expanded alleles (55-200 CGG repeats; premutation range) of the fragile X mental retardation 1 (FMR1) gene. Major features of the syndrome include intention tremor, gait ataxia, and parkinson... |
2,339,383 | Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">An attenuated form of familial adenomatous polyposis has been described, but the phenotype remains poorly understood.</AbstractText>We performed genetic testing on 810 individuals from 2 attenuated familial adenomatous polyposis kindreds harboring an i... |
2,339,384 | Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. | To address five broad questions concerned with knowledge, anxiety, factors associated with participation/non-participation in screening programmes and the long-term sequelae of false-positive, true-positive in newborns and true-negative results.</AbstractText>Five electronic databases, two journals and attempts were ma... |
2,339,385 | The metabolic investigation of sudden infant death. | Inherited metabolic disorders account for a small but significant number of sudden unexplained deaths in neonates, infants and occasionally older children. In particular, inherited disorders of fatty acid oxidation may closely mimic sudden infant death syndrome. Post-mortem investigations offer the final opportunity to... |
2,339,386 | Genetic testing and pharmacogenomics: issues for determining the impact to healthcare delivery and costs. | To determine the potential impact of genetic testing and pharmacogenomics on healthcare delivery and costs.</AbstractText>Literature review.</AbstractText>We examined 3 examples: (1) BRCA1/2 testing for breast cancer risk, (2) HER2/neu overexpression testing to guide drug treatment in women with breast cancer, and (3) ... |
2,339,387 | Selecting tagging SNPs for association studies using power calculations from genotype data. | Recent studies have indicated that linkage disequilibrium (LD) between single nucleotide polymorphism (SNP) markers can be used to derive a reduced set of tagging SNPs (tSNPs) for genetic association studies. Previous strategies for identifying tSNPs have focused on LD measures or haplotype diversity, but the statistic... |
2,339,388 | Evidence of admixture from haplotyping in an epidemiological study of UK Caucasian males: implications for association analyses. | Cohort and case-control genetic association studies offer the greatest power to detect small genotypic influences on disease phenotypes, relative to family-based designs. However, genetic subdivisions could confound studies involving unrelated individuals, but the topic has been little investigated. We examined geograp... |
2,339,389 | A three-year study of enterohemorrhagic Escherichia coli O157 on a farm in Japan. | A long-term study was performed on the prevalence of enterohemorrhagic Escherichia coli (EHEC) O157 in bovine faeces. The present study was conducted on heifers raised on a farm showing a high isolation rate of EHEC O157 in previous years. The prevalence of EHEC O157 isolated from faecal samples was 10.6% (222/2104), 5... |
2,339,390 | limmaGUI: a graphical user interface for linear modeling of microarray data. | limmaGUI is a graphical user interface (GUI) based on R-Tcl/Tk for the exploration and linear modeling of data from two-color spotted microarray experiments, especially the assessment of differential expression in complex experiments. limmaGUI provides an interface to the statistical methods of the limma package for R,... |
2,339,391 | Type 2 diabetes and impaired glucose tolerance in European children and adolescents with obesity -- a problem that is no longer restricted to minority groups. | The incidence of childhood obesity and type 2 diabetes is an increasing problem in Europe. We determined the prevalence of impaired glucose regulation in a predominantly Caucasian cohort of 491 children and adolescents with obesity.</AbstractText>Fasting glucose and insulin levels were determined in all 491 subjects. P... |
2,339,392 | A promoter polymorphism of the CYP27B1 gene is associated with Addison's disease, Hashimoto's thyroiditis, Graves' disease and type 1 diabetes mellitus in Germans. | CYP27B1 hydroxylase catalyzes the conversion of 25 hydroxyvitamin D(3) (25OHD(3)) to 1,25(OH)(2)D(3), the most active natural vitamin D metabolite, which plays a role in the regulation of immunity and cell proliferation. We therefore investigated two single nucleotide polymorphisms in the CYP27B1 hydroxylase gene for a... |
2,339,393 | Predominance and genetic diversity of community- and hospital-acquired CTX-M extended-spectrum beta-lactamases in York, UK. | This study was conducted to detect the presence of extended-spectrum beta-lactamase (ESBL)-producing Enterobacteriaceae within the faecal flora of both community- and hospital-based patients in York and to characterize the bla(TEM), bla(SHV) and bla(CTX-M) genes present in these isolates.</AbstractText>One thousand fae... |
2,339,394 | Parental decisions following the prenatal diagnosis of sex chromosome abnormalities. | To report parental decisions regarding pregnancy termination following the prenatal diagnosis of a sex chromosome abnormality (SCA) in the fetus.</AbstractText>Retrospective collection of data from records of 61 families receiving genetic counseling after prenatal diagnosis of a sex chromosome abnormality in the fetus ... |
2,339,395 | Expression of functional human coagulation factor XIII A-domain in plant cell suspensions and whole plants. | Coagulation factor XIII, a zymogen present in blood as a tetramer (A2B2) of A- and B-domains, is one of the components of many "wound sealants" which are proposed for use or currently in use as effective hemostatic agents, sealants, and tissue adhesives in surgery. After activation by alpha-thrombin cleavage, coagulati... |
2,339,396 | Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. | Mutations in the surfactant protein C gene (SFTPC) were recently reported in patients with interstitial lung disease. In a 13-month-old infant with severe respiratory insufficiency, a lung biopsy elicited combined histological patterns of nonspecific interstitial pneumonia and pulmonary alveolar proteinosis. Immunohist... |
2,339,397 | Juvenile renal cell carcinoma as first manifestation of von Hippel-Lindau disease. | Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome characterized by germline mutations in the VHL tumor suppressor gene located at chromosome 3p25-26 and pleomorphic clinical picture. The major clinical manifestations include retinal angiomas, central nervous system hemangioblastomas, pheopleochromocytom... |
2,339,398 | [An enhanced viral safety of blood preparations]. | Inactivation or elimination of (possibly) contaminated viruses from a pool of prepared several hundreds or thousands of donor-blood samples are an obligatory stage in the donor-blood preparation process. Virus-inactivation is verified through contaminating the basic material with viruses. The quality control of blood p... |
2,339,399 | Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. | Rapid diagnosis of common chromosome aneuploidies in raised risk pregnancies, usually prior to full karyotype analysis, is now carried out in a number of European genetic centres; several techniques for detecting genomic copy number changes have been described. Prenatal diagnosis of genetic disease requires accurate an... |
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