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2,338,200 | Incidence and mutation rates of Huntington's disease in Spain: experience of 9 years of direct genetic testing. | Prior to the discovery of the Huntington's disease (HD) mutation, the prevalence, incidence, and new mutation rates for this disease were based on the presence of progressive choreic movements and a positive family history.</AbstractText>To evaluate the uptake of the HD genetic analysis in Spain, and to provide additio... |
2,338,201 | A chimeric N-terminal Escherichia coli--C-terminal Rhodobacter sphaeroides FliG rotor protein supports bidirectional E. coli flagellar rotation and chemotaxis. | Flagellate bacteria such as Escherichia coli and Salmonella enterica serovar Typhimurium typically express 5 to 12 flagellar filaments over their cell surface that rotate in clockwise (CW) and counterclockwise directions. These bacteria modulate their swimming direction towards favorable environments by biasing the dir... |
2,338,202 | Variable selection pressures across lineages in Trichodesmium and related cyanobacteria based on the heterocyst differentiation protein gene hetR. | Due to the irreversible inhibition of nitrogenase by O2, N2 fixation is incompatible with the oxygenic photosynthesis of cyanobacteria. These organisms have therefore evolved various strategies for growing diazotrophically. One group of N2-fixing cyanobacteria has specialized cells, heterocysts, which contain the nitro... |
2,338,203 | Sex-linked recombination variation and distribution of disease-related genes. | Analysis of the distribution of recombination along human chromosomes and correlation with sequence features and genes have been previously performed on one genetic map for a given chromosome, limiting therefore their validity and precision. In this paper, we circumvent these issues: (1) by testing the correlation betw... |
2,338,204 | Testing alternative mechanisms of evolutionary divergence in an African rain forest passerine bird. | Abstract Models of speciation in African rain forests have stressed either the role of isolation or ecological gradients. Here we contrast patterns of morphological and genetic divergence in parapatric and allopatric populations of the Little Greenbul, Andropadus virens, within different and similar habitats. We sample... |
2,338,205 | European surveillance study on the antibiotic susceptibility of Propionibacterium acnes. | Propionibacterium acnes strains are recovered from infections linked to surgical procedures, foreign bodies and septicaemia. This study investigated the antibiotic susceptibility patterns of P. acnes isolates from different systemic infections and determined the genomic diversity among resistant P. acnes isolates with ... |
2,338,206 | The clinical utility of genetic information in the care of persons with Alzheimer's disease. | Genetic research about Alzheimer's disease (AD) is advancing quickly, but the clinical utility of these gene discoveries remains unclear. The clinical context of genetic research in AD is discussed. |
2,338,207 | Host factors in occupational diisocyanate asthma: a Swiss longitudinal study. | To investigate the usefulness of surrogates for individual susceptibility to organic diisocyanates in occupational asthma.</AbstractText>All new cases declared to the Swiss National Accident Insurance Company (SUVA) for establishment of a case for compensable occupational disease during 1993. Sixty-nine persons, of who... |
2,338,208 | Systematic follow-up and case management of the abnormal newborn screen can improve acceptance of genetic counseling for sickle cell or other hemoglobinopathy trait. | Sickle cell or other hemoglobinopathy trait detected on the newborn screen provides an opportunity for genetic counseling of families at risk of having a child with a major hemoglobinopathy. However, follow-up of hemoglobinopathy trait is often fragmented and acceptance of counseling is low. We describe the results of ... |
2,338,209 | Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements. | To demonstrate the accuracy and sensitivity of Representational Oligonucleotide Microarray Analysis (ROMA) to describe copy number changes in patients with chromosomal abnormalities.</AbstractText>ROMA was performed using BglII digested DNA from two cases with cytogenetically detected deletions and one case with an unb... |
2,338,210 | CYP2C9 gene variants, drug dose, and bleeding risk in warfarin-treated patients: a HuGEnet systematic review and meta-analysis. | Two common variant alleles of the cytochrome CYP2C9 (CYP2C9*2 and CYP2C9*3) lead to reduced warfarin metabolism in vitro and in vivo. The study objective was to examine the strength and quality of existing evidence about CYP2C9 gene variants and clinical outcomes in warfarin-treated patients.</AbstractText>The study wa... |
2,338,211 | Detection of hypermethylated genes in women with and without cervical neoplasia. | DNA methylation changes are an early event in carcinogenesis and are often present in the precursor lesions of various cancers. We examined whether DNA methylation changes might be used as markers of cervical intraepithelial neoplasia (CIN) and invasive cervical cancer (ICC).</AbstractText>We used methylation-specific ... |
2,338,212 | Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. | The accurate identification and interpretation of germline mutations in mismatch repair genes in colorectal cancer cases is critical for clinical management. Current data suggest that mismatch repair mutations are highly heterogeneous and that many mutations are not detected when conventional DNA sequencing alone is us... |
2,338,213 | Carrier screening for alpha- and beta-thalassemia in pregnancy: the results of an 11-year prospective program in Guangzhou Maternal and Neonatal hospital. | To evaluate the first prospective screening program in China for control of alpha and beta-thalassemia in the population of pregnant couples.</AbstractText>During the period between January 1993 and December 2003, a hospital-based preventive program was conducted at the biggest birth center in Guangzhou, with 1/17 of a... |
2,338,214 | EWS-ATF1 fusion transcripts in gastrointestinal tumors previously diagnosed as malignant melanoma. | Clear cell sarcoma (CCS) is classically a deep soft tissue tumor associated with tendons or aponeuroses, although cases of primary CCS of the gastrointestinal (GI) tract have recently been reported. Because it is difficult to distinguish CCS from metastatic melanoma based on morphology, immunohistochemical profile, and... |
2,338,215 | Gastroenteritis in US Marines during Operation Iraqi Freedom. | Approximately 83,000 US Marines participated in the opening phase of Operation Iraqi Freedom in Spring 2003. A Navy Preventive Medicine laboratory was set up in Ad Diwaniyah, Iraq, to provide clinical diagnostic support for Marine medical units during a period of repositioning in south-central Iraq.</AbstractText>Speci... |
2,338,216 | Integrated transcriptional profiling and linkage analysis for identification of genes underlying disease. | Integration of genome-wide expression profiling with linkage analysis is a new approach to identifying genes underlying complex traits. We applied this approach to the regulation of gene expression in the BXH/HXB panel of rat recombinant inbred strains, one of the largest available rodent recombinant inbred panels and ... |
2,338,217 | Prenatal testing guidelines: time for a new approach. | Numerous advances over the past 15 years have led to a much wider array of prenatal testing options for pregnant women who are interested in obtaining information regarding the chromosomal status of their fetus. However, despite recent data calling into question the assumptions underlying current testing guidelines, in... |
2,338,218 | [SSCP analysis (ITS2, ERG11) in clinical Candida isolates from oral cavity in oncology patients].<Pagination><StartPage>182</StartPage><EndPage>186</EndPage><MedlinePgn>182-6</MedlinePgn></Pagination><Abstract><AbstractText>Antifungal prophylactic therapy in oncology patients has favors the emergence of diverse species... | Antifungal prophylactic therapy in oncology patients has favors the emergence of diverse species of Candida. In the present study 32 clinic isolates of Candida spp., recovered from oral cavity, were evaluated testing their susceptibility to diverse antifungals by means of the microdilution method according with the doc... |
2,338,219 | Hereditary cancer syndromes of the skin. | Hereditary cancer syndromes are a group of disorders characterized by a genetic susceptibility to the development of malignant tumors. Multiple cancers in the family or an abnormally early onset for the given cancer may suggest an underlying inherited predisposition. Awareness of their associated dermatologic manifesta... |
2,338,220 | The phakomatoses. | The "phakomatosis" concept was formulated early in the twentieth century by the ophthalmologist van der Hoeve. He included 3 disorders in the group-neurofibromatosis, tuberous sclerosis complex, and von Hippel-Lindau syndrome--on the basis of the occurrence of patchy ophthalmologic manifestations in each disorder. Sinc... |
2,338,221 | Association of the carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase gene with schizophrenia in the Chinese Han population. | Several independent linkage studies have demonstrated that the 1q22 region is likely to harbor candidate schizophrenia susceptibility genes. Recently, some genetic variants within CAPON have been reported as exhibiting significant linkage disequilibrium to schizophrenia in Canadian familial-schizophrenia pedigrees. We ... |
2,338,222 | Plants used to treat epilepsy by Tanzanian traditional healers. | A cross-sectional study performed in Temeke District (Dar es Salaam, Tanzania) showed that 5.5% of the traditional healers have knowledge for the treatment of epilepsy. Of the 100 healers interviewed, 30 (30%) believed that epilepsy was caused by witchcraft, while 19 (19%) thought epilepsy has a genetic origin which ca... |
2,338,223 | Reduced variation among northern deer tick populations at an autosomal microsatellite locus. | To determine whether genes flow freely between populations of the Ixodes ricinus-like ticks of eastern North America, and to determine whether the abundant northerly populations of these vectors of Lyme disease and other zoonotic infections may have arisen recently from a small cohort of ancestral founders, we characte... |
2,338,224 | Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). | Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. While most cases manifest peri-/neonatally with a high mortality rate in the first month of life, others survive to adulthood. ARPKD is caused by mu... |
2,338,225 | Computational prediction of operons in Synechococcus sp. WH8102. | We computationally predict operons in the Synechococcus sp. WH8102 genome based on three types of genomic data: intergenic distances, COG gene functions and phylogenetic profiles. In the proposed method, we first estimate a log-likelihood distribution for each type of genomic data, and then fuse these distribution info... |
2,338,226 | Learning from peer assessment: the role of the external quality assurance multilaboratory thrombophilia test process. | The quality control process is a critical feature of pathology best practice. In addition to internal quality control processes applied on a test-to-test or day-to-day basis, the participation of laboratories in external quality assurance programs (QAPs) is critical to achieving ongoing test accuracy. There are several... |
2,338,227 | Early life risk factors for current wheeze, asthma, and bronchial hyperresponsiveness at 10 years of age. | We sought to identify early life factors (ie, first 4 years) associated with wheeze, asthma, and bronchial hyperresponsiveness (BHR) at age 10 years, comparing their relative influence for these conditions.</AbstractText>Children were seen at birth, and at 1, 2, 4, and 10 years of age in a whole-population birth cohort... |
2,338,228 | Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT. | We conducted linkage analysis of 80 candidate genes in 201 brother pairs affected with prostatic adenocarcinoma. Markers representing two adjacent candidate genes on chromosome 3p, CDC25A and FHIT, showed suggestive evidence for linkage with single-point identity-by-descent allele-sharing statistics. Fine-structure mul... |
2,338,229 | Estimating cancer survival and clinical outcome based on genetic tumor progression scores. | In cancer research, prediction of time to death or relapse is important for a meaningful tumor classification and selecting appropriate therapies. Survival prognosis is typically based on clinical and histological parameters. There is increasing interest in identifying genetic markers that better capture the status of ... |
2,338,230 | Taskforce 9: the application of preimplantation genetic diagnosis for human leukocyte antigen typing of embryos. | This 9th statement of the ESHRE Taskforce on Ethics and Law considers ethical questions and specific dilemmas concerning preimplantation genetic diagnosis for human leukocyte antigen typing of embryos. This application is particularly complex because the interests of the sick child needing a transplantation should be b... |
2,338,231 | Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis. | Mutation screening of the BOULE gene in 156 men with azoospermia or severe oligozoospermia revealed no relevant mutations; thus, mutations in BOULE can be eliminated as a major cause of impaired spermatogenesis. |
2,338,232 | A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens. | To report a novel cystic fibrosis transmembrane conductance regulator (CFTR) gene missense mutation in a compound heterozygote with congenital bilateral absence of the vas deferens (CBAVD).</AbstractText>Descriptive, controlled study.</AbstractText>Tertiary academic hospital genetics laboratory and private in vitro fer... |
2,338,233 | Preimplantation genetic diagnosis for aneuploidy screening in patients with unexplained recurrent miscarriages. | To determine the aneuploidy rate in embryos of women with idiopathic recurrent miscarriages and to evaluate whether preimplantation genetic diagnosis for aneuploidy screening could be a feasible approach to improve the possibility of successful pregnancy in these couples.</AbstractText>Prospective cohort study.</Abstra... |
2,338,234 | Molecular pathology of the CFTR locus in male infertility. | Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an autosomal recessive genetic background in otherwise healthy males. CBAVD is caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations on both alleles in approximately 80% of cases. Striking CFTR genotypic... |
2,338,235 | Benefits and challenges brought by improved results from in vitro fertilization. | Abstract In vitro fertilization (IVF), in which preimplantation-stage embryos are produced after ovarian stimulation and retrieval of preovulatory oocytes, now accounts for almost 2% of all births in Australia. For clinics performing in the top quartile of national results, the chance of a live birth for a woman under ... |
2,338,236 | Comparison of two screening methods for in-house genotyping in clinical pharmacology units. | Two genetic screening methods, the fluorescence resonance energy transfer (FRET) technique on the LightCycler and the real-time pyrophosphate detection technique on the Pyrosequencer have been compared with regard to their usefulness as screening methods for subject recruitment in clinical studies in pharmacology units... |
2,338,237 | Hyper-CK-emia as the sole manifestation of myotonic dystrophy type 2. | A 49-year-old man had an 8-year history of persistent, isolated elevation of serum creatine kinase (hyper-CK-emia) without muscle symptoms, and no electromyographic evidence of myotonia; his muscle biopsy showed features reminiscent of myotonic dystrophy (DM), with morphometric findings consistent with those described ... |
2,338,238 | Molecular diagnosis of inheritable neuromuscular disorders. Part II: Application of genetic testing in neuromuscular disease. | Molecular genetic advances have led to refinements in the classification of inherited neuromuscular disease, and to methods of molecular testing useful for diagnosis and management of selected patients. Testing should be performed as targeted studies, sometimes sequentially, but not as wasteful panels of multiple genet... |
2,338,239 | Analysis of promoter methylation in stool: a novel method for the detection of colorectal cancer. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Detection of tumor-derived DNA alterations in stool is an intriguing new approach with high potential for the noninvasive detection of colorectal cancer (CRC). Because of heterogeneity of tumors, usually multiple markers distributed throughout the huma... |
2,338,240 | Polymorphisms in the interleukin 17F gene (IL17F) and asthma. | Interleukin17F (IL17F) is a regulatory cytokine for T-cell-mediated immune responses. The gene coding for IL17F (IL17F) is located on chromosome 6p, a genomic region linked to asthma and asthma-related phenotypes in multiple genome scans. IL17F is expressed in lung tissue, in bronchoalveolar lavage fluid from asthmatic... |
2,338,241 | Pediatric inflammatory bowel disease. | The prevalence of early-onset inflammatory bowel disease has been on the rise, with children and adolescents currently accounting for approximately 30% of all patients with this condition. Remarkable new advances in diagnostic modalities and therapy for adults with inflammatory bowel disease, and further information ab... |
2,338,242 | Clinical management of hereditary colorectal cancer syndromes. | Colorectal cancer is the second leading cause of cancer-related death in the United States. Although most colorectal cancers are sporadic, approximately 25% have a familial predisposition, and 5 to 7% are hereditary and occur in genetically distinct high-risk families. This review focuses on four hereditary colon cance... |
2,338,243 | Genetics of hypertension: lessons learnt from mendelian and polygenic syndromes. | This brief review discusses genetic and genomic aspects of hypertension. A special emphasis is given to currently available strategies for gene identifications, including studies of rare Mendelian hypertension, candidate gene evaluation, genome-wide scans and approaches based on the comparative genome analysis. We also... |
2,338,244 | Mutagenic effects of 4-hydroxynonenal triacetate, a chemically protected form of the lipid peroxidation product 4-hydroxynonenal, as assayed in L5178Y/Tk+/- mouse lymphoma cells. | The lipid peroxidation product 4-hydroxynon-2-enal (4-HNE) is cytotoxic and genotoxic at superphysiological concentrations. To characterize the mechanism of action of 4-HNE, we assessed genotoxic damage by 4-HNE and by 4-HNE triacetate [4-HNE(Ac)(3)] using the mouse lymphoma assay that measures the mutant frequency in ... |
2,338,245 | [Antibiotic resistance--bacteria fight back]. | Antibiotic resistance has become one of the leading problems in modern medicine. Resistance to antibiotics emerges in bacteria due to genetic mutations and consecutive selection of resistant mutants through selective pressure of antibiotics present in large amounts in soil, plants, animals and humans. Exchange of genet... |
2,338,246 | Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. | Mutations in the GJB2 (connexin 26, Cx26) gene are the major cause of nonsyndromic hearing impairment in many populations. Genetic testing offers opportunities to determine the cause of deafness and predict the course of hearing, enabling the prognostication of language development. In the current study, we compared se... |
2,338,247 | Genetic testing for hereditary nonpolyposis colorectal cancer. | Colorectal cancer remains a major cause of morbidity and mortality in United States. While most newly diagnosed cases are sporadic, a small percent of colorectal cancers are due to hereditary cancer syndromes, of which hereditary nonpolyposis colorectal cancer (HNPCC) is the most common. HNPCC is caused by mutations re... |
2,338,248 | Phenotype determination guides swift genotyping of a DFNA2/KCNQ4 family with a hot spot mutation (W276S). | Genotype a family trait with autosomal dominant nonsyndromic sensorineural hearing impairment guided only by the phenotype.</AbstractText>Family study.</AbstractText>Tertiary referral center.</AbstractText>Fifteen family members.</AbstractText>In the first phase, sequence analysis was performed on DNA isolated from buc... |
2,338,249 | A second-generation genome screen for linkage to type 1 diabetes in a Bedouin Arab family. | IDDM17 on chromosome 10 was identified in an initial genome screen of 13 members (10 affected) of a large Bedouin Arab family that had 19 relatives affected with type 1 diabetes. Two more children have now been diagnosed with the disease. A second genome screen with 45 members (17 affected members, spouses, and offspri... |
2,338,250 | Prevalence of diabetes-associated autoantibodies in schoolchildren: the Karlsburg Type 1 Diabetes Risk Study. | This study attempts to assess the prevalence of diabetes-associated autoantibodies in a general population in the northeastern part of Germany, with emphasis on autoantibodies against glutamic acid decarboxylase (GADA), protein tyrosine phosphatase (IA-2A), and insulin (IAA) by radioassays >/= 98th percentile, and A... |
2,338,251 | Apolipoprotein E epsilon4 allele and lorazepam effects on memory in high-functioning older adults. | The apolipoprotein E (APOE) epsilon4 allele has been implicated as a significant risk factor in the development of late-onset Alzheimer disease, but the evidence of cognitive sequelae in healthy individuals has been mixed.</AbstractText>To determine if the APOE epsilon4 allele increases susceptibility to lorazepam-indu... |
2,338,252 | Pyrosequencing-based approach for rapid detection of rifampin-resistant Mycobacterium tuberculosis. | Rifampin resistance in Mycobacterium tuberculosis could be determined within 2 h by using pyrosequencing-based approach. Pyrosequencing results of rifampin-resistant (n = 21) and rifampin-susceptible (n = 20) M. tuberculosis isolates were concordant with those based on drug susceptibility testing and conventional DNA s... |
2,338,253 | A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene. | Asn363Ser polymorphism of the human glucocorticoid receptor has been detected in approximately 4% of the population and it has been associated with several diseases and pathologic conditions. Here we describe a new, simple and cost-effective allele-specific PCR method for a rapid screening of this polymorphism. When co... |
2,338,254 | Genetic risk estimation by healthcare professionals.<Pagination><StartPage>116</StartPage><EndPage>118</EndPage><MedlinePgn>116-8</MedlinePgn></Pagination><Abstract><AbstractText Label="OBJECTIVES" NlmCategory="OBJECTIVE">To assess whether healthcare professionals correctly incorporate the relevance of a favourable tes... | Hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is an autosomal dominantly inherited disorder that is characterized by susceptibility to colorectal cancer and extracolonic malignancies, in particular endometrial cancer. HNPCC is caused by pathogenic mutations in the mismatch repa... |
2,338,255 | Testing adaptive plasticity to UV: costs and benefits of stem elongation and light-induced phenolics. | On exposure to ultraviolet radiation (UV), many plant species both reduce stem elongation and increase production of phenolic compounds that absorb in the UV region of the spectrum. To demonstrate that such developmental plasticity to UV is adaptive, it is necessary to show that the induced phenotype is both beneficial... |
2,338,256 | A mouse model of oral-esophageal carcinogenesis. | Squamous cancers of the oral cavity and esophagus are common worldwide. A number of environmental factors as well as genetic alterations have been identified. However, the specific combination of genetic events and their interplay with environmental carcinogens are largely un-known. Furthermore, no good animal model ex... |
2,338,257 | [Screening and analysis of associated genes in the carcinogenesis and progression of gastric cancer]. | To screen and analyze the important associated genes in different stages of gastric cancer.</AbstractText>Using suppression subtractive hybridization (SSH) to screen differentially expressed genes; detecting the expression of genes in different stages of gastric cancer with dot blot hybridization; and verifying the res... |
2,338,258 | Association of defensin beta-1 gene polymorphisms with asthma. | Defensins are antimicrobial peptides that may take part in airway inflammation and hyperresponsiveness.</AbstractText>We characterized the genetic diversity in the defensin beta-1 (DEFB1) locus and tested for an association between common genetic variants and asthma diagnosis.</AbstractText>To identify single nucleotid... |
2,338,259 | Implementing prenatal screening for cystic fibrosis in routine obstetric practice. | The purpose of this study was to assess the outcome of the type of prescreening counseling on choices for prenatal cystic fibrosis screening.</AbstractText>From October 2001 to November 2002, regardless of ethnicity, all prenatal patients (n = 855) at the Air Force Medical Genetics Center, Biloxi, Miss, received educat... |
2,338,260 | Sensitivity and specificity of the ViroSeq human immunodeficiency virus type 1 (HIV-1) genotyping system for detection of HIV-1 drug resistance mutations by use of an ABI PRISM 3100 genetic analyzer. | The ViroSeq human immunodeficiency virus type 1 (HIV-1) genotyping system is an integrated system for identification of drug resistance mutations in HIV-1 protease and reverse transcriptase (RT). Reagents are included for sample preparation, reverse transcription, PCR amplification, and sequencing. Software is provided... |
2,338,261 | Use of the MicroSeq 500 16S rRNA gene-based sequencing for identification of bacterial isolates that commercial automated systems failed to identify correctly. | Reliable automated identification and susceptibility testing of clinically relevant bacteria is an essential routine for microbiology laboratories, thus improving patient care. Examples of automated identification systems include the Phoenix (Becton Dickinson) and the VITEK 2 (bioMerieux). However, more and more freque... |
2,338,262 | Prenatal and newborn paternity testing with DNA analysis. | In rape against youthful girls which yields pregnancy after the abortion DNA examinations can be performed from the aborted foetal material to provide evidence of paternity of the suspect. In our present work we demonstrate six cases: four of them are rape cases and two where the mother abandoned her newborn baby. Thes... |
2,338,263 | Privacy protection for clinical and genomic data. The use of privacy-enhancing techniques in medicine. | Privacy includes the right of individuals and organisations to determine for themselves when, how and to what extent information about them is communicated to others. The growing need of managing large amounts of both clinical and genetic data raises important legal and ethical challenges. This paper introduces some of... |
2,338,264 | Monoamine oxidases A and B gene polymorphisms in migraine patients. | Abnormal cortical activity and brainstem functioning are considered the possible etiopathogenetic factors of migraine. Monoamine oxidase A and B (MAO-A and -B) regulate the levels of monoamine neurotransmitters, so changes in their activity could participate in migraine pathogenesis. We have investigated the possible a... |
2,338,265 | VH gene analysis of primary CNS lymphomas. | Primary CNS lymphomas (PCNSL) are highly malignant non-Hodgkin's lymphomas of B cell origin associated with a poor prognosis. These neoplasms show variable sensitivity to radio- and chemotherapy. A molecular basis for these differences in treatment responses has not yet been established for primary CNS lymphomas in a c... |
2,338,266 | (GCG)11 founder mutation in the PABPN1 gene of OPMD Uruguayan families. | The dominant oculo-pharyngeal muscular dystrophy mutation consists of an expanded (GCN)(12-17) in the coding region of the PolyA Binding Protein Nuclear 1 gene. A founder effect has been demonstrated in Canadian and Bukhara Jewish populations with relatively high prevalence of this disease. Since the oculo-pharyngeal m... |
2,338,267 | Canine and feline models of human inherited muscle diseases. | Animal models are of immense importance for studying mechanisms of disease and testing new therapies, and rodents have been used extensively in the field of neuromuscular disorders. Mice and rats can be genetically manipulated to over-express or not express genes that are important to muscle function, and these animals... |
2,338,268 | Improving the referral process for familial breast cancer genetic counselling: findings of three randomised controlled trials of two interventions. | To evaluate the effectiveness and cost-effectiveness of two complementary interventions, using familial breast cancer as a model condition. The primary care intervention consisted of providing computerised referral guidelines and related education to GPs. The nurse counsellor intervention evaluated genetic nurses as su... |
2,338,269 | IL-10 promoter haplotype influence on interferon treatment response in multiple sclerosis. | The level of interleukin-10 (IL-10) expression is related to polymorphisms -1082 (G/A), -819 (T/C) and -592 (A/C) in the promoter region of the IL-10 gene, which constitute three haplotypes, GCC, ATA, and ACC. The ATA (a non-GCC) haplotype, which is associated with low IL-10 expression, has been shown to improve interf... |
2,338,270 | Genetic and epigenetic features in radiation sensitivity. Part II: implications for clinical practice and radiation protection. | Recent progress especially in the field of gene identification and expression has attracted greater attention to the genetic and epigenetic susceptibility to cancer, possibly enhanced by ionising radiation. This issue is especially important for radiation therapists since hypersensitive patients may suffer from adverse... |
2,338,271 | Leber's hereditary optic neuropathy--case report and literature review. | Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients.</AbstractText>To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing.</AbstractText>We... |
2,338,272 | Screening for CLCN5 mutation in renal calcium stone formers patients. | Thirty-five patients (23 males and 12 females), age 35 +/- 13 years old, presenting either idiopathic calcium nephrolithiasis, nephrocalcinosis or mild renal failure with idiopathic calcium nephrolithiasis were selected for the analysis of low molecular weight proteinuria and the possible mutations occurrence in the ch... |
2,338,273 | Cost-effectiveness analysis of prenatal diagnosis: methodological issues and concerns. | With increasing concerns regarding rapidly expanding health care costs, cost-effectiveness analysis (CEA) provides a methodology to assess whether marginal gains from new technology are worth the increased costs. In the arena of prenatal diagnosis, particular methodological and ethical concerns include whether the effe... |
2,338,274 | A community profile of alpha thalassaemia in Western Australia. | To investigate the current prevalence of alpha-thalassaemia in the population of Western Australia, which has received substantial immigration from South-East Asia during the last 30 years.</AbstractText>Over a 1-year period commencing July 2002, alpha-thalassaemia DNA testing was performed on 920 blood samples receive... |
2,338,275 | Personal characteristics of older primary care patients who provide a buccal swab for apolipoprotein E testing and banking of genetic material: the spectrum study. | To determine the personal characteristics and reasons associated with providing a buccal swab for apolipoprotein E (APOE) genetic testing in a primary care study.</AbstractText>The study sample consisted of 342 adults aged 65 years and older recruited from primary care settings.</AbstractText>In all, 88% of patients ag... |
2,338,276 | Short-term psychological impact of predictive testing for Machado-Joseph disease: depression and anxiety levels in individuals at risk from the Azores (Portugal). | The short-term impact of the pre-symptomatic genetic test (PT) for Machado-Joseph disease (MJD) in the Azores (Portuguese Islands) was assessed in 46 individuals at risk who completed the PT Program.</AbstractText>Scores for depression and anxiety were used as indicators of the subjects' emotional status immediately be... |
2,338,277 | Of biotechnology and man. | Lessons learned from the arena of other genetic 'resources' (such as plants and animals) together with the past decade of experience in human genetic research requires a rethinking of policy approaches. Whether at the level of whole populations, the family or the individual, the determination of rights and responsibili... |
2,338,278 | Methodological considerations in the study of genetic discrimination. | The potential significance and dimensions of genetic discrimination have been described extensively in published literature, but epidemiological and verified case data are limited. Obtaining unbiased data from individuals about discrimination which has been based on erroneous or unjustifiable assumptions about their ge... |
2,338,279 | Estimating misclassification error with small samples via bootstrap cross-validation. | Estimation of misclassification error has received increasing attention in clinical diagnosis and bioinformatics studies, especially in small sample studies with microarray data. Current error estimation methods are not satisfactory because they either have large variability (such as leave-one-out cross-validation) or ... |
2,338,280 | Empirical Bayes screening of many p-values with applications to microarray studies. | Statistical tests for the detection of differentially expressed genes lead to a large collection of p-values one for each gene comparison. Without any further adjustment, these p-values may lead to a large number of false positives, simply because the number of genes to be tested is huge, which might mean wastage of la... |
2,338,281 | Array-based mutation detection of BRCA1 using direct probe/target hybridization. | We describe here an efficient microarray-based multiplex assay to detect Korean-specific mutations in breast cancer susceptibility gene BRCA1 using direct probe/target hybridization. Allele-specific oligonucleotides were covalently immobilized on an aldehyde-activated glass slide to prepare an oligonucleotide chip. Fro... |
2,338,282 | [Transcriptional abnormalities and genetic testing]. | There is a rapidly growing literature on transcription abnormalities, e.g. differential expression of alleles and the role of some single nucleotide polymorphisms in altering splicing patterns. An average 10% of splicing mutations is reported in the Human Gene Mutation Database but this figure could climb to 50% for so... |
2,338,283 | Are genetic self-tests dangerous? Assessing the commercialization of genetic testing in terms of personal autonomy. | Should a growing market for genetic self-tests be welcomed or feared? From the point of view of personal autonomy the increasing availability of predictive health information seems promising. Yet it is frequently pointed out that genetic information about future health may cause anxiety, distress and even loss of "life... |
2,338,284 | Concentrations of Escherichia coli and genetic diversity and antibiotic resistance profiling of Salmonella isolated from irrigation water, packing shed equipment, and fresh produce in Texas. | Fresh produce has been repeatedly implicated as a vehicle in the transmission of foodborne gastroenteritis. In an effort to assess the risk factors involved in the contamination of fresh produce with pathogenic bacteria, a total of 1,257 samples were collected from cantaloupe, oranges, and parsley (both in the field an... |
2,338,285 | Genetic counseling for BRCA1/2: a randomized controlled trial of two strategies to facilitate the education and counseling process. | Due to the complexity of information surrounding BRCA1/2 counseling and testing and its time consuming nature, efforts to facilitate the genetic counseling and education process are needed. Using a 2 x 2 factorial design, two strategies were examined: a CD-ROM program for patients and a feedback checklist to the geneti... |
2,338,286 | The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. | Allgrove syndrome is a genetic disorder inherited in an autosomal recessive pattern and characterized by a triad of adrenal insufficiency, achalasia, and alacrima. The gene affected by the mutation in patients with Allgrove syndrome is termed either AAAS or ALADIN (alacrima/achalasia/adrenal insufficiency/neurologic di... |
2,338,287 | Endoscopic diagnosis and management of hereditary nonpolyposis colorectal cancer. | Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant condition that accounts for 2 to 7% of all colorectal malignancies diagnosed annually. Endoscopic surveillance affords a rational strategy for reducing HNPCC-associated colorectal cancer incidence and mortality. The primary objective of this rev... |
2,338,288 | Classification of BRCA1 missense variants of unknown clinical significance. | BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast-ovarian cancer families. Several missense variants have been identified throughout the gene but because of lack of information about their impact on the function of BRCA1, predictive testi... |
2,338,289 | Milroy disease and the VEGFR-3 mutation phenotype. | Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3) gene have now been described in 13 families world-wide. This is a review of the condition ... |
2,338,290 | [DNA-analysis in hereditary cancer: the importance of a reliable family history]. | Three patients, a 45-year-old man, a 51-year-old woman and a 43-year-old woman, wanted to know whether they had a hereditary predisposition for cancer. The family of patient A fulfilled the clinical diagnostic criteria for hereditary non-polyposis colorectal carcinoma (HNPCC). The family of patient B fulfilled the clin... |
2,338,291 | CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis. | Several reports demonstrate association between variants of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune diseases. CTLA-4 may generate autoimmunity by immune dysregulation, making CTLA-4 an attractive candidate gene for systemic lupus erythematosus (SLE) susceptibility. Previous CTLA-4 association studi... |
2,338,292 | Perspectives on use and protection of genetic information in work settings: results of a preliminary study. | The societal use of genetic information raises ethical concerns, and the views of working persons regarding genetic information have received little attention. We performed an empirical project to characterize perspectives of 63 employees at two sites who expressed strong interest in learning about and protecting their... |
2,338,293 | The genetics of hearing loss. | Hearing impairment is the most common sensory deficit with half of the causes of hearing loss having a genetic basis. There is a range of treatment devices but these do not correct the underlying pathology. Advances in molecular biology have greatly enhanced our understanding of the pathophysiology of genetic hearing l... |
2,338,294 | Evidence for the gamma-amino-butyric acid type B receptor 1 (GABBR1) gene as a susceptibility factor in obsessive-compulsive disorder. | Obsessive-compulsive disorder (OCD) is a well-recognized severe neuropsychiatric illness. Genetic factors are believed to be important etiologically. Although historically genetic testing has focused on the serotonergic and dopaminergic systems, there is increasing evidence that the major inhibitory neurotransmitter, g... |
2,338,295 | Linkage to peroxisome proliferator-activated receptor-gamma in SAMP1/YitFc mice and in human Crohn's disease. | Genetic predisposition is implicated strongly in Crohn's disease. Disease-associated mutations in NOD2/CARD15 , the best-studied susceptibility gene in this disorder, explain only a small fraction of the heritability. The SAMP1/YitFc (SAMP1/Fc) mouse strain expresses many features of Crohn's disease in humans. We bred ... |
2,338,296 | A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease. | Previously, we identified 2 functionally relevant polymorphisms in the SLC22A4 / 22A5 genes at the IBD5 locus that alter gene/protein function and comprise a 2-allele haplotype ( SLC22A -TC) associated with increased risk for Crohn's disease (CD). Here we examine the contribution of this susceptibility haplotype alone ... |
2,338,297 | Bone loss induced by ovariectomy in rats is prevented by gene transfer of parathyroid hormone or an Arg-Gly-Asp-containing peptide. | Osteoporosis is a major and growing healthcare concern as the population ages. The genes of both a Arg-Gly-Asp (RGD)-containing peptide and parathyroid hormone (PTH) were used to reduce bone loss induced by ovariectomy (OVX) in rats. Plasmids with either RGD or PTH gene were delivered into the quadriceps of OVX rats. T... |
2,338,298 | A note on appropriate use of statistical tests of mutation rates from ordered groups. | Recently it was found that the frequency of familial dysautonomia (FD) carriers in Ashkenazi Jews (AJ) was higher in AJ of Polish descent compared to AJ of non-Polish descent. The study population was classified into groups ranging from no to full Polish origin. The statistical procedure used to compare the frequencies... |
2,338,299 | Preconceptional cystic fibrosis carrier screening: opinions of general practitioners, gynecologists, and pediatricians in the Netherlands. | Knowledge of the opinions of physicians with regard to preconceptional cystic fibrosis (CF) carrier screening and the possible factors that are associated with their opinions is important for the implementation of such a screening program. Data were obtained from a study in which genetic knowledge, opinions with regard... |
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