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2,338,700 | Advances in acute lymphoblastic leukemia. | Current literature.</AbstractText>Acute lymphoblastic leukemia (ALL) is a stem cell disorder characterized by an overproduction of lymphoblasts in the bone marrow that eventually spill into circulation, producing lymphocytosis. As with the other acute leukemias, the most common symptoms experienced by patients include ... |
2,338,701 | Should children and adolescents undergo genetic testing? | Genetic testing comes in many shapes and sizes. The decision to undergo genetic testing must involve consideration of the medical, psychosocial, and reproductive benefits and risks of testing. The evaluation of risks and benefits varies significantly both between and within families. Pediatricians should keep up with t... |
2,338,702 | Ethical dilemmas in the treatment of children with disabilities. | Issues relating to the treatment of children with disabilities, such as withholding treatment, organ donation, research, genetic screening, and prenatal diagnosis, all present ethical dilemmas. These issues always need to be reviewed to determine which ethical considerations apply. Identifying relevant principles, one ... |
2,338,703 | [Arctic and southern freshwater pearl mussel Margaritifera margaritifera with long and short life span as a model system for testing longevity mechanisms]. | The freshwater pearl mussel (Margaritifera margartifera) is one of the longest lived animals, attaining ages in excess of 150 years in polar climates. Because of its long life, the species may be useful for studying genetic and physiological mechanisms contributing to longevity. An ongoing study is comparing 6 southern... |
2,338,704 | Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2: a clinic-based series. | Although BRCA1 and BRCA2 were identified in 1994 and 1995, respectively, to the authors' knowledge the optimal management of women with BRCA-associated breast carcinoma remains incompletely defined. The current study evaluates the appropriateness of breast-conserving therapy (BCT) in women with BRCA mutations.</Abstrac... |
2,338,705 | New joint covariance- and marginal-based tests for association and linkage for quantitative traits for random and non-random sampling. | We develop novel statistical tests for transmission disequilibrium testing (tests of linkage in the presence of association) for quantitative traits using parents and offspring. These joint tests utilize information in both the covariance (or more generally, dependency) between genotype and phenotype and the marginal d... |
2,338,706 | [Molecular cytogenetic techniques and their application in clinical diagnosis]. | Cytogenetics analysis is at present the basic element of the diagnostic process of genetic disorders which are caused by chromosomal abnormalities. Since the chromosome banding technique has been introduced in the 1970s, it has been available as a diagnostic tool of a number of clinical syndromes. It enabled to prove t... |
2,338,707 | Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. | To identify the chromosomal location of the gene causing snowflake vitreoretinal degeneration (SVD), an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment.</AbstractText>Clinical data were collected on 31 family... |
2,338,708 | Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. | Mutations in mitochondrial DNA (mtDNA), particularly those in the 12S rRNA gene, have been shown to be associated with sensorineural hearing loss. Here we report the clinical and sequence analysis of the entire mitochondrial genome in three Chinese subjects with aminoglycoside-induced and non-syndromic hearing impairme... |
2,338,709 | Molecular classification of scrapie strains in mice using gene expression profiling. | Transmissible spongiform encephalopathy strains demonstrate specific prion characteristics, each with specific incubation times, and strain-specific patterns of deposition of the misfolded isoform of prion, PrPSc, in the brains of infected individuals. Different biochemical properties, including glycosylation profiles ... |
2,338,710 | High-throughput gene sequencing assay development for hereditary nonpolyposis colon cancer. | Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common hereditary colon cancer syndrome and is responsible for as many as 10% of all colorectal cancers. Hereditary nonpolyposis colorectal cancer is autosomally dominant with a prevalence of 1 in 200-2000 and exhibits incomplete penetrance. Affected individ... |
2,338,711 | Association between chronic fatigue syndrome and the corticosteroid-binding globulin gene ALA SER224 polymorphism. | Chronic fatigue syndrome (CFS) is characterized by idiopathic fatigue of greater than 6 months' duration with postexertional exacerbation and many other symptoms. A trend toward relative hypocortisolism is described in CFS. Twin and family studies indicate a substantial genetic etiologic component to CFS. Recently, sev... |
2,338,712 | [Clinical and genetic analysis of juvenile parkinsonism in Russia]. | Clinical and genetic analysis of juvenile parkinsonism was performed in 26 sibs from 20 families. Heterogeneity of the disorder was observed. Mutations in the parkin gene (locus PARK2, chromosome 6q25.2-27), with the prevalence of deletions over point mutations, have been identified in 41%. The comparative clinical ana... |
2,338,713 | [Recent advances in immunologic laboratory testing for rheumatic diseases]. | Immunologic laboratory tests serve critical roles in the care of patients with various rheumatic diseases. These tests can provide relevant information of rheumatic diseases based on their immunopathophysiological condition. Although immunologic laboratory tests are quite useful for the determination of diagnosis and t... |
2,338,714 | [Germline mutation of BRCA1 gene in Polish families with strong aggregation of breast and/or ovarian cancer based on coding sequence analysis using the SSCP method]. | The aim of the study was to identify possible BRCA1 germline mutations in Polish families with strong aggregation of breast and/or ovarian cancer. Identification was based on analysis of the entire coding region using SSCP--"Phast System" technique. The study group consisted of 34 women with breast or/and ovarian cance... |
2,338,715 | Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor. | Fanconi anemia is a rare autosomal recessive disease characterized by bone marrow failure, developmental anomalies, and a high incidence of myelodysplasia and acute myeloid leukemia. Stem cell transplantation is the only curative treatment. In the absence of matched- sibling donor, an alternative mismatched family or m... |
2,338,716 | Methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms and reduced risk of malignant lymphoma. | Folate and methionine are important nutrients in the "one-carbon" metabolism that is closely associated with DNA synthesis and DNA methylation. Genetic variation in these pathways may change susceptibility to cancer development. We have previously reported associations between lymphoma risk and germline polymorphisms i... |
2,338,717 | CARD15 gene mutations and risk for early surgery in pediatric-onset Crohn's disease. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">The risk for Crohn's disease (CD) is determined in part by genetic factors. Three recently described mutations in the CARD15(NOD2) gene have been associated with adult-onset CD. We investigated the effect of CARD15 mutations on disease manifestation, d... |
2,338,718 | High-resolution mapping of the Rym4/Rym5 locus conferring resistance to the barley yellow mosaic virus complex (BaMMV, BaYMV, BaYMV-2) in barley (Hordeum vulgare ssp. vulgare L.). | Soil-borne barley yellow mosaic virus disease--caused by a complex of at least three viruses, i.e. Barley mild mosaic virus (BaMMV), Barley yellow mosaic virus (BaYMV) and BaYMV-2--is one of the most important diseases of winter barley in Europe. The two genes rym4, effective against BaMMV and BaYMV, and rym5, addition... |
2,338,719 | Molecular markers linked to papaya ring spot virus resistance and Fusarium race 2 resistance in melon. | In melon, the Fom-1 gene confers monogenic resistance against the soil-borne fungus Fusarium oxysporum f. sp. melonis, races 0 and 2, while the closely linked Prv gene specifies resistance against the papaya ring spot virus. Markers linked to these resistance (R) genes were identified using two recombinant inbred line ... |
2,338,720 | Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. | Population-based data on the risk of cancer in families eligible for BRCA1/2 mutation testing may help to reach a consensus about the association of BRCA1/2 mutations with cancer at sites other than the breast and may reveal new, non-BRCA1/2 related components of the familial clustering of cancer in those families.</Ab... |
2,338,721 | Clinical trial design for microarray predictive marker discovery and assessment. | Transcriptional profiling technologies that simultaneously measure the expression of thousands of mRNA species represent a powerful new clinical research tool. Similar to previous laboratory analytical methods including immunohistochemistry, PCR and in situ hybridization, this new technology may also find its niche in ... |
2,338,722 | The rare ERBB2 variant Ile654Val is associated with an increased familial breast cancer risk. | Overexpression of the proto-oncogene ERBB2 (HER2/NEU) has been observed in 20-30% of breast cancers involving poor prognosis. Genetic alterations within ERBB2 have been shown to induce carcinogenesis and metastasis. We investigated eight annotated single nucleotide polymorphisms for occurrence in familial breast cancer... |
2,338,723 | A single nucleotide polymorphism in the MDM2 promoter attenuates the p53 tumor suppressor pathway and accelerates tumor formation in humans. | The tumor suppressor p53 gene is mutated in minimally half of all cancers. It is therefore reasonable to assume that naturally occurring polymorphic genetic variants in the p53 stress response pathway might determine an individual's susceptibility to cancer. A central node in the p53 pathway is the MDM2 protein, a dire... |
2,338,724 | Severe hemophilia A due to a 1.3 kb factor VIII gene deletion including exon 24: homologous recombination between 41 bp within an Alu repeat sequence in introns 23 and 24. | Partial or complete factor (F)VIII gene deletions are found in about 5% of families with severe hemophilia A. Relatively few deletions have been well characterized and, of these, recombination occurred between either common repeat elements or non-homologous sequences. In evaluating a family with severe hemophilia A, an... |
2,338,725 | Information and effective number of meioses in linkage analysis. | In this paper we introduce two information criteria in linkage analysis. The setup is a sample of families with unusually high occurrence of a certain inheritable disease. Given phenotypes from all families, the two criteria measure the amount of information inherent in the sample for 1) testing existence of a disease ... |
2,338,726 | A model for estimating joint maternal-offspring effects on seed development in autogamous plants. | We present a statistical model for testing and estimating the effects of maternal-offspring genome interaction on the embryo and endosperm traits during seed development in autogamous plants. Our model is constructed within the context of maximum likelihood implemented with the EM algorithm. Extensive simulations were ... |
2,338,727 | Linkage analysis of ordinal traits for pedigree data. | Linkage analysis is used routinely to map genes for human diseases and conditions. However, the existing linkage-analysis methods require that the diseases or conditions either be dichotomized or measured by a quantitative trait, such as blood pressure for hypertension. In the latter case, normality is generally assume... |
2,338,728 | The optimal measure of linkage disequilibrium reduces error in association mapping of affection status. | We have developed a simple yet powerful approach for disease gene association mapping by linkage disequilibrium (LD). This method is unique because it applies a model with evolutionary theory that incorporates a parameter for the location of the causal polymorphism. The method exploits LD maps, which assign a location ... |
2,338,729 | Catechol-O-methyltransferase gene Val108/158Met polymorphism, and susceptibility to schizophrenia: association is more significant in women. | Schizophrenia is a complex disorder with a polygenic inheritance. Catechol-O-methyltransferase (COMT) plays a significant role in the regulation of dopaminergic systems. A polymorphism at COMT Val108/158Met has been identified in association with schizophrenia. We examined the allele and genotype association of the COM... |
2,338,730 | Detection of colorectal cancer by a quantitative fluorescence determination of DNA amplification in stool. | DNA amplification of exfoliated cells in stool represents an inexpensive and rapid test, but has only 50% to 60% sensitivity. A new quantitative method, called fluorescence long DNA, was developed and validated in our laboratory on stool obtained from 86 patients with primary colorectal cancer and from 62 healthy indiv... |
2,338,731 | Testing geographical pathways of speciation in a recent island radiation. | Determining the mode, or geographical context, of speciation is a critical first step to understanding the evolutionary mechanisms that cause new species to arise. In this study, we estimated phylogenetic relationships in the cerasina species group of the Hawaiian cricket genus Laupala (Orthoptera: Gryllidae) to test c... |
2,338,732 | Ecological and life history characteristics predict population genetic divergence of two salmonids in the same landscape. | Ecological and life history characteristics such as population size, dispersal pattern, and mating system mediate the influence of genetic drift and gene flow on population subdivision. Bull trout (Salvelinus confluentus) and mountain whitefish (Prosopium williamsoni) differ markedly in spawning location, population si... |
2,338,733 | Spatial genetic structure in a metapopulation of the land snail Cepaea nemoralis (Gastropoda: Helicidae). | Habitat fragmentation is a major force affecting demography and genetic structure of wild populations, especially in agricultural landscapes. The land snail Cepaea nemoralis (L.) was selected to investigate the impact of habitat fragmentation on the spatial genetic structure of an organism with limited dispersal abilit... |
2,338,734 | Absence of myocilin and optineurin mutations in a large Philippine family with juvenile onset primary open angle glaucoma. | To analyze the role of the two primary open angle glaucoma (POAG) genes, myocilin (MYOC) and optineurin (OPTN), in a large Philippine family segregating autosomal dominant juvenile onset open angle glaucoma (JOAG).</AbstractText>The coding sequences of the MYOC and OPTN genes were screened in 27 family members by polym... |
2,338,735 | Confirmation and genetic dissection of a major quantitative trait locus for alcohol preference drinking. | In previous work, we created congenic strains that carry the DBA/2IBG (D2) region for alcohol preference on chromosome 2, on an otherwise C57BL/6IBG (B6) background. Here, we report construction and testing of interval-specific congenic recombinant strains (ISCRSs) for the purpose of narrowing the quantitative trait lo... |
2,338,736 | Association of HLA-DM polymorphism with the production of antiphospholipid antibodies. | To investigate whether variation in the HLA-DM gene is important in producing a group of pathogenic autoantibodies-antiphospholipid antibodies (aPL)-on the basis that HLA class II restricted antigen presentation is involved in the production of aPL.</AbstractText>HLA-DMA and DMB polymorphisms were genotyped by polymera... |
2,338,737 | HLA typing in focal myositis. | It is still controversial if idiopathic focal myositis is a part of systemic polymyositis. We present here four patients, including identical twins, with focal myositis accompanied by the same HLA typings. Gradually developing unilateral calf muscle pain was an initial symptom in all patients. Neither muscular weakness... |
2,338,738 | The role of host organism, transcriptional switches and reporter mechanisms in the performance of Hg-induced biosensors. | The purpose of this study was to comprehensively compare the response of nine biosensors capable of being induced by Hg. Induction by Hg was based upon the insertion of merR, merB, zntA and zntR promoter genes. LuxCDABE or lucFF reporter genes expressed luminescence, and host organisms were Escherichia coli, Vibrio ang... |
2,338,739 | Role of 14-bp deletion in the HLA-G gene in the maintenance of pregnancy. | Differential expression of human leukocyte antigens (HLAs) on trophoblast has been the focus of many studies, specially on extravillous cytotrophoblast cells, which migrates into the maternal uterine tissues. These invading cells do not express classical major histocompatibility complex class I (-A and -B) and class II... |
2,338,740 | HLA-Cw*1214 allele arisen via recombination between HLA-Cw*070201 and HLA-Cw*120201. | Allelic polymorphism of the major histocompatibility complex arises mostly from gene conversion. Intralocus gene conversion usually involves limited fragments of DNA, whereas recombination involving large fragments of DNA is considered to be a rare event. During routine sequencing-based typing of donors for the Nationa... |
2,338,741 | Immunogenetics of HLA null alleles: implications for blood stem cell transplantation. | The transplantation of haematopoietic stem cells is a potentially curative therapy for a variety of haematological and non-haematological diseases. Matching of donor and recipient for human leucocyte antigens (HLA) is pivotal for the success of blood stem cell transplantation. HLA null alleles are characterized by the ... |
2,338,742 | A pilot study on genotype announcement to induce smoking cessation by Japanese smokers. | Genotype announcements related to susceptibility to hazardous effects of smoking may be effective to induce smoking cessation.</AbstractText>Subjects were municipal government employees, 63 young smokers employed in the previous year and 59 smokers with more than 45 pack-years, who were invited to educational sessions ... |
2,338,743 | Emergence of new strains of methicillin-resistant Staphylococcus aureus in a neonatal intensive care unit. | Genetically distinct strains of methicillin-resistant Staphylococcus aureus (MRSA) of community rather than hospital origin have emerged in many areas of the United States. We determined if MRSA strains causing bacteremia in infants treated from birth in a neonatal intensive care unit (NICU) demonstrated the genetic tr... |
2,338,744 | Perceptions of genetic discrimination among at-risk relatives of colorectal cancer patients. | To explore the concerns of at-risk relatives of colorectal cancer patients about genetic discrimination and their awareness of current legislative protections.</AbstractText>A questionnaire was sent to unaffected individuals with a family history of colorectal cancer who had enrolled in the Johns Hopkins Hereditary Col... |
2,338,745 | Family communication about positive BRCA1 and BRCA2 genetic test results. | The identification of a BRCA1 or BRCA2 genetic mutation can provide important health information to individuals who receive this result, but it can also provide crucial cancer risk information to family members. Most of the research on communication of genetic test results has focused on first degree relatives. The pur... |
2,338,746 | Genetic tests and their evaluation: can we answer the key questions? | The rapid pace of research in the field of genetics has already yielded many benefits. The development of new genetic tests is one such example. Before there can be widespread uptake of these tests they need to be evaluated to confirm the benefits of their use. The authors review some of the key features of the evaluat... |
2,338,747 | Mycobacterium cosmeticum sp. nov., a novel rapidly growing species isolated from a cosmetic infection and from a nail salon. | Four isolates of a rapidly growing Mycobacterium species had a mycolic acid pattern similar to that of Mycobacterium smegmatis, as determined by HPLC analyses. Three of the isolates were from footbath drains and a sink at a nail salon located in Atlanta, GA, USA; the fourth was obtained from a granulomatous subdermal l... |
2,338,748 | Genetic selection for health traits using producer-recorded data. I. Incidence rates, heritability estimates, and sire breeding values. | The objective of this study was to determine the feasibility of genetic selection for health traits in dairy cattle using data recorded in on-farm herd management software programs. Data regarding displaced abomasum (DA), ketosis (KET), mastitis (MAST), lameness (LAME), cystic ovaries (CYST), and metritis (MET) were co... |
2,338,749 | Testing nested phylogenetic and phylogeographic hypotheses in the Plethodon vandykei species group. | Mesic forests in the North American Pacific Northwest occur in two disjunct areas: along the coastal and Cascade ranges of Oregon, Washington, and British Columbia as well as the Northern Rocky Mountains of Idaho, Montana, and British Columbia. Over 150 species or species complexes have disjunct populations in each are... |
2,338,750 | Monocyte derived dendritic cell responses in common variable immunodeficiency. | The phenotype and function of monocyte derived dendritic cells (MdDC) were investigated in 25 patients with common variable immunodeficiency (CVID) to test for abnormalities that might help explain the failure of antibody production. Using MHC class II DR and CD86 as markers of maturation, DCs from the majority of CVID... |
2,338,751 | The individuality of mice. | Mutant mice simulating human CNS disorders are used as models for therapeutic drug development. Drug evaluation requires a coherent correlation between behavioral phenotype and drug status. Variations in behavioral responses could mask such correlations, a problem highlighted by the three-site studies of Crabbe et al. ... |
2,338,752 | Can an apple a day keep the doctor away?<Pagination><StartPage>3419</StartPage><EndPage>3429</EndPage><MedlinePgn>3419-29</MedlinePgn></Pagination><Abstract><AbstractText>The modern pharmaceutical industry based on synthetic chemistry severed the historical connection between plants, food and medicines. The growing cos... | The modern pharmaceutical industry based on synthetic chemistry severed the historical connection between plants, food and medicines. The growing costs of discovering new chemical entity-based drugs through high throughput screening methods may yet again reconnect plants and human health at a new level of technological... |
2,338,753 | Two-Stage sampling designs for gene association studies. | We consider two-stage case-control designs for testing associations between single nucleotide polymorphisms (SNPs) and disease, in which a subsample of subjects is used to select a panel of "tagging" SNPs that will be considered in the main study. We propose a pseudolikelihood [Pepe and Flemming, 1991: JASA 86:108-113]... |
2,338,754 | HygR and PurR plasmid vectors for episomal transfection of Trypanosoma cruzi. | This work describes the development and functional testing of two episomes for stable transfection of Trypanosoma cruzi. pHygD contained the 5'- and 3'- flanking regions of the gene encoding the cathepsin B-like protease of T. cruzi as functional trans-splicing and polyadenylation signals for the hygR ORF. Evidence is ... |
2,338,755 | Community genetic services in Latin America and regional network of medical genetics. Recommendations of a World Health Organization consultation. | The World Health Organization sponsored a Consultation on Community Genetic Services and a Regional Network of Medical Genetics in Latin America in Porto Alegre, Brazil, on June 19, 2003. The main recommendations of the meeting included: (a) the call for government funding of services, research and education in medical... |
2,338,756 | Screening of SNPs at 18 positional candidate genes, located within the GD-1 locus on chromosome 14q23-q32, for susceptibility to Graves' disease: a TDT study. | Graves' disease (GD) is a complex autoimmune thyroid disorder with a strong genetic component. Genome-wide screens resolved several susceptibility loci that contribute to the development of GD. One of the susceptibility loci (GD-1 locus) was mapped on chromosome 14q31. However, a susceptibility gene located within the ... |
2,338,757 | The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. | Peroxisome biogenesis disorders in the Zellweger syndrome spectrum (PBD-ZSS) are caused by defects in at least 12 PEX genes required for normal organelle assembly. Clinical and biochemical features continue to be used reliably to assign patients to this general disease category. Identification of the precise genetic de... |
2,338,758 | The presence of vasal vessels in men with congenital bilateral absence of the vas deferens. | We characterized spermatic cord microanatomy in men with congenital bilateral absence of the vas deferens (CBAVD) presenting for varicocelectomy. We discuss the implications of these findings for varicocele repair.</AbstractText>Between 1997 and 2003, 8 men with CBAVD underwent a total of 11 microsurgical subinguinal v... |
2,338,759 | Minnesota Colorectal Cancer Initiative: successful development and implementation of a community-based colorectal cancer registry. | The aim of the Minnesota Colorectal Cancer Initiative is to implement risk-specific interventions to decrease colorectal cancer morbidity and mortality by 1) assisting clinicians to identify and educate individuals and families at high and increased risk for colorectal cancer; 2) providing professional and community ed... |
2,338,760 | Genetic services in Colombia. | Medical genetic services, including clinical genetics, cytogenetics, biochemical and molecular genetics and paternity testing, are performed in Colombia in the more developed medical schools or university institutions, in nine major cities of the country. Accessibility to genetic services is limited by medical care rei... |
2,338,761 | Genetic services in Chile. | Demographic changes in Chile have positioned congenital malformations as a major cause of infant morbidity and mortality. At the same time, medical genetics has become increasingly important in relation to the diagnosis and management of individuals with birth defects and hereditary conditions as well as in the study o... |
2,338,762 | Genetic services and research in the state of Minas Gerais, Brazil. | The state of Minas Gerais in Brazil has a surface of 586,528 km(2), and 18 million inhabitants. Infant mortality rate is 20/1,000, and congenital anomalies are its second cause. There are 11 medical schools where basic genetics, but not clinical genetics, is taught. Genetic services in the state include: newborn screen... |
2,338,763 | Novel insights into the aetiology and pathogenesis of hypopituitarism. | Recent advances in our knowledge of pituitary development, acquired mainly from animal models, have enhanced our understanding of the aetiology of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD), as well as several syndromic forms of growth hormone deficiency (GHD). A number o... |
2,338,764 | Iranian national thalassaemia screening programme. | Iran's experience shows that genetic screening can be successful in lower resource countries and also provides some lessons for high resource nations |
2,338,765 | Diagnosis of norwalk virus infection by indirect enzyme immunoassay detection of salivary antibodies to recombinant norwalk virus antigen. | Simple diagnostic tests are needed for the detection of norovirus (NoV) outbreaks. Salivary antibody assays provide an attractive alternative to collecting and testing serum or stool samples. Antibodies to Norwalk virus (NV) in oral fluid samples were compared with NV antibodies in serum collected from 38 volunteers ch... |
2,338,766 | Detection of low level genomic alterations by comparative genomic hybridization based on cDNA micro-arrays. | The accumulation of genomic alterations is an important process in tumor formation and progression. Comparative genomic hybridization performed on cDNA arrays (cDNA aCGH) is a common method to investigate the genomic alterations on a genome-wide scale. However, when detecting low-level DNA copy number changes this tech... |
2,338,767 | ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'. | Among the many educational materials produced by the European Society of Human Reproduction and Embryology (ESHRE) are guidelines. ESHRE guidelines may be developed for many reasons but their intent is always to promote best quality practices in reproductive medicine. In an era in which preimplantation genetic diagnosi... |
2,338,768 | Factors influencing intention to obtain a genetic test for a hereditary disease in an affected group and in the general public. | To ensure successful implementations of genetic screening in the future, the attitudes of the public are an important factor to consider. The primary aim of this study is to investigate the intention to take a genetic test for an unidentified hereditary disease. A further objective is to assess the predictive values of... |
2,338,769 | First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. | Thirty-seven unrelated Iranian CF families were screened for the presence of seven common mutations (DeltaF508, G542X, W1282X, G551D, N1303K, 1717-1G-->A, and 621-1G-->T) using ARMS PCR and exons 4 and 7 of the CFTR gene by SSCP method. This study resulted in the identification of 26.8 per cent of all CF alleles:... |
2,338,770 | Identifying and testing for hereditary susceptibility to common cancers. | Hereditary cancer syndromes account for an estimated 5% of breast, ovarian, and colon cancers. The rapid discovery of cancer-related genes in the last 15 years has propelled the field of cancer genetic risk assessment forward. With patients becoming increasingly aware of available genetic testing options, it is importa... |
2,338,771 | Clinical trials in neurological disorders using AAV vectors: promises and challenges. | Currently, there are five phase I clinical trials of recombinant adeno-associated viral vectors for the treatment of neurological disorders that are approved or likely to be approved shortly. Two trials are testing different strategies to treat Parkinson's disease (PD), the third trial is aimed at treating Canavan's di... |
2,338,772 | A large-scale study of the random variability of a coding sequence: a study on the CFTR gene. | Coding single nucleotide substitutions (cSNSs) have been studied on hundreds of genes using small samples (n(g) approximately 100-150 genes). In the present investigation, a large random European population sample (average n(g) approximately 1500) was studied for a single gene, the CFTR (Cystic Fibrosis Transmembrane c... |
2,338,773 | Proteomics, genomics and the future of medical education. | The completion of the human genome project in 2003 ushered in the era of genomics, the systematic study of our DNA sequence. Proteomics, the study of the full complement of proteins present in a cell, is a natural extension of genomics. Together, the information obtainable through genomics and proteomics has tremendous... |
2,338,774 | Novel MYOC gene mutation, Phe369Leu, in Japanese patients with primary open-angle glaucoma detected by denaturing high-performance liquid chromatography. | To screen for mutations in the MYOC gene in Japanese patients with primary open-angle glaucoma (POAG) using denaturing high-performance liquid chromatography (DHPLC).</AbstractText>Blood samples were collected from 171 patients with POAG and 100 controls from seven institutions in Japan. For high-throughput analysis, s... |
2,338,775 | Testing the conservation of the translational machinery over evolution in diverse environments: assaying Thermus thermophilus ribosomes and initiation factors in a coupled transcription-translation system from Escherichia coli. | Ribosomes from the extreme thermophile Thermus thermophilus are capable of translation in a coupled transcription-translation system derived from Escherichia coli. At 45 degrees C, T.thermophilus ribosomes translate at approximately 25-30% of the maximal rate of E.coli ribosomes, and synthesize full-length protein. T.t... |
2,338,776 | Methodology and preliminary results from the neurocognitive outcomes of depression in the elderly study. | A methodology is presented for following a cohort of older depressed patients to examine neurocognitive outcomes of depression. A total of 265 depressed individuals and 138 healthy, nondepressed controls age 60 and older who completed at least 1 year of follow-up data underwent periodic clinical evaluation by a geriatr... |
2,338,777 | BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. | The spectrum of mutations in BRCA1 and BRCA2 among African Americans has not been well characterized because most studies to date have been done in Caucasian families. According to Myriad Genetic Laboratories, Inc., only approximately 3% of individuals undergoing BRCA1/BRCA2 testing reported African American ancestry. ... |
2,338,778 | A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam. | N-desmethylclobazam (N-CLB), the major metabolite of clobazam (CLB), exerts a large influence on therapeutic and adverse effects of CLB. A substantial inter-individual variability has been observed in the ratios of N-CLB concentration/CLB dose and of the N-CLB/CLB concentration. We document here a genotype-phenotype co... |
2,338,779 | [Recognising hereditary non-polyposis colorectal cancer without a clear family history]. | In 3 patients, 2 men aged 46 and 51 years and a woman aged 54 years, with colorectal cancer there was insufficient information on the basis of the family history to diagnose 'hereditary non-polyposis colorectal cancer' (HNPCC). Further investigation showed microsatellite instability in the tumour material, an indicator... |
2,338,780 | Screening of six risk exons of the RET proto-oncogene in families with medullary thyroid carcinoma in the Czech Republic. | Medullary thyroid carcinoma (MTC) occurs as a sporadic form (75%) or as an autosomal dominant inherited familial disorder (25%) called familial MTC (FMTC) or as multiple endocrine neoplasia type 2 (MEN2) syndromes. Germ-line mutations in the rearranged during transfection (RET) proto-oncogene in exons 10, 11, 13, 14, 1... |
2,338,781 | The insulin-like growth factor-II receptor gene is associated with type 1 diabetes: evidence of a maternal effect. | Susceptibility to type 1 diabetes (T1D) is a complex trait, involving several loci. One of these putative loci, insulin-dependent diabetes mellitus-8 (IDDM8) at 6q, has been found to be subject to parental effects, suggesting the involvement of an imprinted gene. IGF-II receptor (IGF2R), the best-studied imprinted gene... |
2,338,782 | Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma. | More than 30% of adrenal pheochromocytomas are hereditary. These neuroendocrine tumors are major components of three inherited cancer syndromes: multiple endocrine neoplasia type 2, von Hippel-Lindau disease (VHL), and pheochromocytoma/paraganglioma syndrome (PC/PGL). Germline mutations in RET; VHL; and SDHB, SDHC, and... |
2,338,783 | Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. | We investigated the involvement of the HRPT2 gene by loss of heterozygosity analysis and direct sequencing in a kindred with hyperparathyroidism-jaw tumor syndrome (HPT-JT) and three kindreds with familial isolated primary hyperparathyroidism (FIHP). Seven patients with sporadic parathyroid cancers and 35 with parathyr... |
2,338,784 | Solid phase adsorption toxin tracking (SPATT): a new monitoring tool that simulates the biotoxin contamination of filter feeding bivalves. | A simple and sensitive in situ method for monitoring the occurrence of toxic algal blooms and shellfish contamination events has been developed. The technique involves the passive adsorption of biotoxins onto porous synthetic resin filled sachets (SPATT bags) and their subsequent extraction and analysis. The success of... |
2,338,785 | Cohort analysis of a single nucleotide polymorphism on DNA chips. | A method has been developed to determine SNPs on DNA chips by applying a flow-through bioscanner. As a practical application we demonstrated the fast and simple SNP analysis of 24 genotypes in an array of 96 spots with a single hybridisation and dissociation experiment. The main advantage of this methodical concept is ... |
2,338,786 | Predictive testing for hereditary non-polyposis colorectal cancer: motivation, illness representations and short-term psychological impact. | This paper describes the motivation, recall of cancer risks, and illness representations of 40 individuals who had a predictive test for hereditary non-polyposis colorectal cancer (HNPCC) as well as the short-term impact of predictive testing by means of a semi-structured interview and self-report questionnaires. The m... |
2,338,787 | A clinician's guide to hereditary colon cancer. | Approximately 10% of patients diagnosed with colorectal cancer are at risk for a hereditary form of the disease. At-risk patients can be offered genetic counseling and testing to determine whether they carry a detectable mutation for such a syndrome. If so, this information provides the clinician with valuable data abo... |
2,338,788 | [Iron overload disease: recent findings]. | Iron overload diseases are due to a progressive increase in total body iron stores that leads to deposition of iron in parenchymal organs and to subsequent damage to these organs. The commonest inherited form of iron overload is hereditary hemochromatosis (HH), an autosomal recessive disorder affecting the white popula... |
2,338,789 | Trajectories of psychosis: towards a new social biology of schizophrenia. | Over the last 2 decades, discourse on the causes of schizophrenia was conducted almost entirely in terms of biological risk factors. This was probably the result of social trends in the research community, and in popular culture, as a wave of techno-optimism promised answers to big human questions in terms of small pix... |
2,338,790 | History and rationale of genetic toxicity testing: an impersonal, and sometimes personal, view. | Genetic toxicity testing is a necessary and pivotal component of product development and registration. This article traces the historical development and evolution of genetic toxicity testing, and the rationale for such testing, and identifies some of the individuals who played key roles in this process. The evolution ... |
2,338,791 | Heterogeneity of risk for melanoma and pancreatic and digestive malignancies: a melanoma case-control study. | Data addressing the interfamilial heterogeneity of melanoma are limited. In the current study, the authors assessed melanoma risk according to family history of melanoma and other melanoma-associated malignancies and evaluated the familial heterogeneity of melanomas, pancreatic malignancies, and gastrointestinal malign... |
2,338,792 | MSI-testing in hereditary non-polyposis colorectal carcinoma (HNPCC). | Genomic instability at simple repeated sequences, termed microsatellite instability (MSI), plays an important role in the analysis of sporadic and hereditary colon cancers. In hereditary non-polyposis colorectal cancer syndrome (HNPCC) more than 90% of cases show MSI, whereas only 10-15% of sporadic colorectal cancers ... |
2,338,793 | Identification of HNPCC by molecular analysis of colorectal and endometrial tumors. | Hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) is a dominantly inherited syndrome characterized by the development of colorectal cancer, endometrial cancer and other cancers and the presence of microsatellite instability (MSI) in tumors. The Bethesda guidelines have been proposed for the identificati... |
2,338,794 | Stable long-term gene correction with low-dose radiation conditioning in murine X-linked chronic granulomatous disease. | We previously demonstrated that low-dose radiation conditioning impairs murine hematopoietic stem cell function, permitting engraftment of syngeneic fresh and transduced marrow cells. In this study, we directly examined the ability of low-dose radiation conditioning to permit engraftment of transduced long-term repopul... |
2,338,795 | Identification of high-risk pancreatic cancer-prone families. | Pancreatic cancer-prone families provide a unique resource for studying the etiology, natural history, genetics, and treatment of pancreatic cancer. The only effective way of identifying these families is by obtaining a complete family history, since it is not possible to differentiate sporadic pancreatic cancer cases ... |
2,338,796 | Genetic counseling for hereditary pancreatitis--the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1. | The importance of pretest information, using an accredited DNA laboratory and interpreting the genotype on behalf of the patient and their physicians is emphasized. Care with predictive testing and the strong encouragement to involve a specialist genetic counseling service is made. A similar approach to genetic testing... |
2,338,797 | The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis. | This article reviews current concepts regarding the pathobiology of cystic fibrosis pancreatic disease. It summarizes recent studies on the relationship between CFTR mutations and pancreatitis, and it reviews several unresolved issues in the field. |
2,338,798 | Serine protease inhibitor Kazal type 1 mutations and pancreatitis. | In summary, SPINK1 is thought to play an important role in protecting the pancreas against excessive trypsinogen activation. SPINK1 mutations are associated with the development of acute and chronic pancreatitis and have been detected in all forms of chronic pancreatitis. The strong association of mutations in the PRSS... |
2,338,799 | Use of TP53 reference materials to validate mutations in clinical tissue specimens by single-strand conformational polymorphism analysis. | As genetic information moves from basic research laboratories in to the clinical testing environment, there is a critical need for reliable reference materials for the quality assurance of genetic tests. A panel of 12 plasmid clones containing wild-type or point mutations within exons 5-9 have been developed as referen... |
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