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2,336,200 | Screening of antibiotics resistance to Enterobacteriaceae, Pseudomonas aeruginosa, and Acinetobacter baumannii by an advanced expert system. | The VITEK2 advanced expert system (AES) gives information about the antibiotics-resistance mechanisms based on the biological validation derived from the VITEK2 susceptibility result. In this study, we investigated whether or not this system correctly categorized the beta-lactamase resistance mechanism data derived fro... |
2,336,201 | Accurate prediction of HIV-1 drug response from the reverse transcriptase and protease amino acid sequences using sparse models created by convex optimization. | Genotype-phenotype modeling problems are often overcomplete, or ill-posed, since the number of potential predictors-genes, proteins, mutations and their interactions-is large relative to the number of measured outcomes. Such datasets can still be used to train sparse parameter models that generalize accurately, by exer... |
2,336,202 | Multiplex fluorescent analysis of four short tandem repeats for rapid haemophilia A molecular diagnosis. | Indirect molecular diagnosis of hemophiliaA (HA) is carried out by analyzing intragenic polymorphic markers described along the coagulation factorVIII (FVIII) gene. Several studies have demonstrated that the two commonly used intronic short tandem repeats (STR13 and STR22) located in the FVIII gene are highly informati... |
2,336,203 | Large deletions of the PROS1 gene in a large fraction of mutation-negative patients with protein S deficiency. | Protein S deficiency is an autosomal dominant disorder that results from mutations in the PROS1 gene. Conventional mutation detection techniques fail to detect a pathogenic PROS1 mutation in approximately 50% of cases. The present study investigates whether large deletions of PROS1 are found in families where mutations... |
2,336,204 | Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. | Because standard techniques used to detect mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene do not detect single or multiple exonic rearrangements, the importance of such rearrangements may be underestimated. Using an in-house developed, single-tube, semi-quantitative fluorescent PCR (SQ... |
2,336,205 | Inferring candidate genes for attention deficit hyperactivity disorder (ADHD) assessed by the World Health Organization Adult ADHD Self-Report Scale (ASRS). | The present study tests the psychometric properties and validity of the German version of the World Health Organization Adult Attention Deficit Hyperactivity Disorder (ADHD) Self-Report Scale (ASRS), which is a short screening instrument for use in the general population. Furthermore, two candidate genes for ADHD, the ... |
2,336,206 | Reversible nitrous oxide myelopathy and a polymorphism in the gene encoding 5,10-methylenetetrahydrofolate reductase. | We present a case of a patient who received nitrous oxide on two occasions within a period of 8 weeks and who subsequently developed a diffuse myelopathy, characterized by upper extremity paresis, lower extremity paraplegia and neurogenic bladder. Laboratory testing revealed hyperhomocysteinaemia and low levels of vita... |
2,336,207 | Chromosome segment duplications in Neurospora crassa and their effects on repeat-induced point mutation and meiotic silencing by unpaired DNA. | The size and extent of four Neurospora crassa duplications, Dp(AR17), Dp(IBj5), Dp(OY329), and Dp(B362i), was determined by testing the coverage of RFLP markers. The first three duplications were all > approximately 350 kb and have been shown in earlier studies to act as dominant suppressors of repeat-induced point ... |
2,336,208 | Quantification of mitochondrial DNA using real-time polymerase chain reaction in patients with premature ovarian failure. | To quantify mitochondrial DNA using real-time PCR in women with premature ovarian failure (POF) and a control group.</AbstractText>Prospective study.</AbstractText>Genome Research Center for Reproductive Medicine and Infertility, Korea Ministry of Health & Welfare.</AbstractText><AbstractText Label="PATIENT(S)" Nlm... |
2,336,209 | Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. | To compare multiple-cell trophectoderm biopsy for preimplantation genetic diagnosis (PGD) from day-5 blastocysts with previously published experience with day-3 cleavage-stage embryos.</AbstractText>Retrospective review of laboratory and clinical experience.</AbstractText>Sydney IVF, a private clinic in Australia.</Abs... |
2,336,210 | Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography. | Mutations in the CREBBP (CREB-binding protein gene) cause Rubinstein-Taybi syndrome (RSTS). At present, however, genetic testing of CREBBP is not commonly applied in clinical settings because the currently available assays are technically and financially demanding, mainly because of the size of the gene. In the present... |
2,336,211 | CMfinder--a covariance model based RNA motif finding algorithm. | The recent discoveries of large numbers of non-coding RNAs and computational advances in genome-scale RNA search create a need for tools for automatic, high quality identification and characterization of conserved RNA motifs that can be readily used for database search. Previous tools fall short of this goal.</Abstract... |
2,336,212 | Biological, cellular, and molecular characteristics of an inducible transgenic skin tumor model: a review. | The genetically initiated Tg.AC transgenic mouse carries a transgene consisting of an oncogenic v-Ha-ras coding region flanked 5' by a mouse zeta-globin promoter and 3' by an SV-40 polyadenylation sequence. Located on chromosome 11, the transgene is transcriptionally silent until activated by chemical carcinogens, UV l... |
2,336,213 | A genetic screen for mutations that affect cranial nerve development in the mouse. | Cranial motor and sensory nerves arise stereotypically in the embryonic hindbrain, act as sensitive indicators of general and region-specific neuronal development, and are directly or indirectly affected in many human disorders, particularly craniofacial syndromes. The molecular genetic hierarchies that regulate crania... |
2,336,214 | Concordance, disease progression, and heritability of coeliac disease in Italian twins. | We adopted the twin method to disentangle the genetic and environmental components of susceptibility to coeliac disease (CD). We estimated disease concordance rate by zygosity and HLA genotypes, discordance times, progression rates to disease, and heritability.</AbstractText>We crosslinked the Italian Twin Registry wit... |
2,336,215 | Genetic and environmental influences on skin pattern deterioration. | Sun exposure has been known to cause histological changes in the dermal layer of the skin. Using deterioration in the fine reticular patterning of the epidermal stratum corneum (skin pattern, as measured on the Beagley-Gibson scale) as a proxy measure of histological changes in the dermal layer, previous studies have t... |
2,336,216 | Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII. | Mutations in the collagen XVII gene, COL17A1, are associated with junctional epidermolysis bullosa. Most COL17A1 mutations lead to a premature termination codon (PTC), whereas only a few mutations result in amino acid substitutions or deletions. We describe here two novel glycine substitutions, G609D and G612R, and a s... |
2,336,217 | Something not quite right: Gardner syndrome diagnosed by multiple cutaneous lesions and genetic testing. | Gardner syndrome is a variant of familial adenomatous polyposis characterized by intestinal adenomatous polyps, which can progress to adenocarcinoma, and a variety of extraintestinal manifestations, including skin cysts, osteomas, soft tissue fibrous tumours and a characteristic ocular lesion. The extraintestinal manif... |
2,336,218 | Genetic relatedness of a rarely isolated Salmonella: Salmonella enterica serotype Niakhar from NARMS animal isolates. | In the United States, Salmonella enterica serotype Niakhar is infrequently isolated. Between 1997 and 2000, the animal arm of the National Antimicrobial Resistance Monitoring System-Enteric Bacteria (NARMS) assayed a total of 22,383 Salmonella isolates from various animal sources (swine, cattle, chickens, turkeys, cats... |
2,336,219 | Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification. | A DNA-proven Tay-Sachs disease (TSD) carrier and his brother were found to have serum percent Hexosaminidase A (%HexA) enzymatic activities in the non-carrier range, while the leukocyte %HexA profiles clearly identified them as TSD heterozygotes. Both their serum HexA and HexB enzymatic activities were below reference ... |
2,336,220 | An analysis of genetic toxicity, reproductive and developmental toxicity, and carcinogenicity data: II. Identification of genotoxicants, reprotoxicants, and carcinogens using in silico methods. | This study examined a novel method to identify carcinogens that employed expanded data sets composed of in silico data pooled with actual experimental genetic toxicity (genetox) and reproductive and developmental toxicity (reprotox) data. We constructed 21 modules using the MC4PC program including 13 of 14 (11 genetox ... |
2,336,221 | A family with McLeod syndrome and calpainopathy with clinically overlapping diseases. | The authors describe a family with six patients with muscular dystrophy with a variable course. One is a compound heterozygote for CAPN3 mutations (calpainopathy) and the others have a single CAPN3 mutation. Linkage analysis and sequencing revealed a XK gene mutation (McLeod syndrome). This illustrates the variable phe... |
2,336,222 | Familial basilar migraine associated with a new mutation in the ATP1A2 gene. | Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the... |
2,336,223 | Comparison of family histories in FTLD subtypes and related tauopathies. | Pedigrees from 269 patients with frontotemporal lobar degeneration (FTLD), including frontotemporal dementia (FTD), FTD with ALS (FTD/ALS), progressive nonfluent aphasia, semantic dementia (SD), corticobasal degeneration, and progressive supranuclear palsy were analyzed to determine the degree of heritability of these ... |
2,336,224 | Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNA(Leu(UUR)) gene. | The mitochondrial DNA mutation A3302G in the tRNA(Leu(UUR)) gene causes respiratory chain complex I deficiency. The main clinical feature appears to be a progressive mitochondrial myopathy with proximal muscle weakness.</AbstractText>To report on clinical and molecular features in 4 novel patients with the A3302G mutat... |
2,336,225 | Association of organic cation transporter risk haplotype with perianal penetrating Crohn's disease but not with susceptibility to IBD. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">Three years after the identification of NOD2/CARD15, 2 more genes for inflammatory bowel diseases (IBDs) were reported. The carnitine/organic cation transporter (OCTN) on 5q31 (IBD5) is associated with Crohn's disease (CD) and DLG5 (10q23), a member of... |
2,336,226 | Heterogeneity in alpha-thalassemia interactions in Malays, Chinese and Indians in Malaysia.<Pagination><StartPage>540</StartPage><EndPage>546</EndPage><MedlinePgn>540-6</MedlinePgn></Pagination><Abstract><AbstractText Label="AIM" NlmCategory="OBJECTIVE">Interactions between different determinants of alpha-thalassemia r... | Interactions between different determinants of alpha-thalassemia raises considerable problems, particularly during pregnancies where antenatal diagnosis is necessary. This study aims to determine the different types of deletional alpha-thalassemia and Hemoglobin Constant Spring (HbCS), and their frequency in Malays, Ch... |
2,336,227 | Parent-of-origin, imprinting, mitochondrial, and X-linked effects in traits related to alcohol dependence: presentation Group 18 of Genetic Analysis Workshop 14. | The participants of Presentation Group 18 of Genetic Analysis Workshop 14 analyzed the Collaborative Study on the Genetics of Alcoholism data set to investigate sex-specific effects for phenotypes related to alcohol dependence. In particular, the participants looked at imprinting (which is also known as parent-of-origi... |
2,336,228 | Fine mapping by linkage and association in nuclear family and case-control designs. | This report summarizes the Genetic Analysis Workshop 14 contributions related to fine-mapping strategies, in which examining smaller regions by association with single-nucleotide polymorphisms (SNPs) can yield savings in genotyping and multiple-testing penalties. The aim of the analyses conducted in Group 7 contributio... |
2,336,229 | Association mapping: methodologies, strategies, and issues. | Recent advances in molecular genetic technology allow for detailed characterization of genetic variation and easy cost-efficient accumulation of such data, even for large human samples. One such advance that presents incredible opportunities for identifying associations between genetic polymorphisms and disease-related... |
2,336,230 | Summary of contributions to GAW Group 12: multivariate methods. | Here we summarize the contributions to Group 12 of Genetic Analysis Workshop (GAW) 14, held in Noordwijkerhout, The Netherlands. The theme of this group, multivariate methods, covered a broad range of statistical applications. Most of the contributors considered Problem 1 of the GAW. However, one paper considered the b... |
2,336,231 | Summary of contributions to GAW Group 5: linkage mapping methods, Problem 2. | Here I summarize the contributions to Group 5 of Genetic Analysis Workshop 14, held in Noordwijkerhout in The Netherlands. The theme of this group was linkage mapping methods applied to the simulated data (Problem 2). A variety of approaches were taken, and a number of questions were examined. In addition to testing fo... |
2,336,232 | Genetic characterization of European-Zebu composite bovine using RFLP markers. | A population of 370 European-Zebu composite beef heifers, consisting of six different breed compositions (A-F), were characterized genetically, using RFLP markers of luteinizing hormone receptor (LHR) and follicle-stimulating hormone receptor (FSHR) genes. Our objectives were to genetically characterize this population... |
2,336,233 | Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures. | Hereditary non polyposis colorectal cancer (HNPCC) is a hereditary predisposition to colorectal and endometrial cancer, caused by mutations of the mismatch repair (MMR) genes MSH2, MLH1 and MSH6. Regular colonoscopy reduces the incidence of colorectal cancer in mutation carriers dramatically. The aim of this study was ... |
2,336,234 | Development and QTL assessment of Triticum aestivum-Aegilops tauschii introgression lines. | A set of 84 bread wheat lines, each containing a single homozygous introgression of the Aegilops tauschii genome was produced in the 'Chinese Spring' background via backcrossing of the D-genome chromosome substitution lines 'Chinese Spring'/Sears's 'Synthetic 6x' with the recurrent parent and subsequent selfing. The de... |
2,336,235 | A catalog of nonsynonymous polymorphism on mouse chromosome 16. | Numerous phenotypic traits differ among inbred mice, and the genetic diversity of inbred strains has been exploited in studies of quantitative trait loci (QTL). Sequencing the mouse genome has resulted in improved tools for the study of QTL, but a comprehensive catalog of sequence variants between strains would be of g... |
2,336,236 | [Screening of the delta-F508 mutation and analysis of two Single Nucleotide Polymorphism of the CFTR gene, in a sample of the general population of Valparaíso, Chile]. | The Cystic Fibrosis (CF) carrier rate in Chile was estimated to be 1/40. CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Delta F508 mutation is the most common in CF patients in Chile and worldwide. Delta F508 has linkage disequilibrium with two Single Nucleotide Polymo... |
2,336,237 | Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal. | To gain insights on the molecular mechanisms of mutation that led to the emergence of expanded alleles in the MJD gene, by studying the behavior of wild-type alleles and testing the association of its distribution with the representation of the disease.</AbstractText>The number of CAG motifs in the MJD gene was determi... |
2,336,238 | Prenatal diagnosis of hemoglobinopathies in Ontario, Canada. | In 1989, the Province of Ontario established a molecular diagnostic laboratory for carrier detection and prenatal diagnosis of hemoglobinopathies. Over the past 15 years, the laboratory has provided prenatal diagnosis for 672 pregnancies at-risk for severe hemoglobinopathies: 276 (41%) for homozygous beta-thalassemia o... |
2,336,239 | Preimplantation genetics: Improving access to stem cell therapy. | There has been progress in the application of stem cell transplantation for treatment of an increasing number of severe congenital and acquired bone marrow disorders, currently restricted by the availability of human leukocyte antigen (HLA)-matched related donors. Preimplantation HLA typing has recently been introduced... |
2,336,240 | Study of two markers of apoptosis and meiotic segregation in ejaculated sperm of chromosomal translocation carrier patients. | To try to explain the infertility of chromosomal translocation carrier patients, we compared the expression of two markers of apoptosis in the sperm of patients and of fertile donors, and we studied the meiotic segregation in the ejaculated sperm of these translocation carriers.</AbstractText>Twenty semen samples of tr... |
2,336,241 | A method for using incomplete triads to test maternally mediated genetic effects and parent-of-origin effects in relation to a quantitative trait. | The authors recently developed a semiparametric family-based test for linkage and association between markers and quantitative traits. This quantitative polytomous logistic regression test allows for analysis of families with incomplete information on parental genotype. In addition, it is not necessary to assume normal... |
2,336,242 | Clinical trials with tumor antigen genetically modified dendritic cells. | Tumor antigen genetically modified dendritic cells (DC) have been extensively tested as cancer vaccine approaches in preclinical models. This testing has provided evidence of their ability to generate coordinated antitumor CD8+ cytotoxic T lymphocyte (CTL) and CD4+ T-helper cell responses. Their antitumor activity comp... |
2,336,243 | Pharmacogenomics of responsiveness to interferon IFN-beta treatment in multiple sclerosis: a genetic screen of 100 type I interferon-inducible genes. | Interferon IFN-beta is indicated for the treatment of multiple sclerosis. A significant proportion of patients show a poor clinical response to therapy. Type I interferon exerts its effect at least partially through interaction of specific transcription factors with interferon-stimulated response elements (ISREs), most... |
2,336,244 | Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. | The human DNA mismatch repair (MMR) protein MLH1 has essential roles in the correction of replication errors and the activation of cell cycle checkpoints and cytotoxic responses to DNA damage that contribute to suppression of cancer risk. MLH1 functions as a heterodimer with the PMS2 protein, and steady state levels of... |
2,336,245 | Triallelic patterns in STR loci used for paternity analysis: evidence for a duplication in chromosome 2 containing the TPOX STR locus. | We report triallelic patterns in several short tandem repeat (STR) loci revealed by routine paternity testing using the commercial AMPFlSTR Profiler and AMPFlSTR SGMplus kits. One case where the TPOX-locus (2p25.3) produced three peaks from the blood sample of a child was analysed further. Quantitative polymerase chain... |
2,336,246 | Elevated and similar urinary testosterone/epitestosterone ratio in all samples of a competition testing: suspicion of a manipulation. | The case of seven urine samples collected for anti-doping purposes during a cycling stage race with moderately elevated testosterone and epitestosterone ratio (T/E) is reported. The very low probability of having all seven urine samples with such similar elevated T/E ratio (from 3.2 to 4.7) was very suspicious. Differe... |
2,336,247 | Theatre as a public engagement tool for health-policy development. | To explore theatre as a public engagement tool for health-policy development.</AbstractText>In a justice-based democracy, engagement of a large number of citizens of diverse perspectives is required for legitimate health-policy development. However, all current strategies of citizen participation are limited in their c... |
2,336,248 | Chloroplast biogenesis 92: In situ screening for divinyl chlorophyll(ide) a reductase mutants by spectrofluorometry. | Chlorophyll biosynthetic heterogeneity is rooted mainly in parallel divinyl (DV) and monovinyl (MV) biosynthetic routes interconnected by 4-vinyl reductases (4VRs) that convert DV tetrapyrroles to MV tetrapyrroles by conversion of the vinyl group at position 4 of the macrocycle to ethyl. What is not clear at this stage... |
2,336,249 | Variation in conserved non-coding sequences on chromosome 5q and susceptibility to asthma and atopy. | Evolutionarily conserved sequences likely have biological function.</AbstractText>To determine whether variation in conserved sequences in non-coding DNA contributes to risk for human disease, we studied six conserved non-coding elements in the Th2 cytokine cluster on human chromosome 5q31 in a large Hutterite pedigree... |
2,336,250 | DNA barcoding: error rates based on comprehensive sampling. | DNA barcoding has attracted attention with promises to aid in species identification and discovery; however, few well-sampled datasets are available to test its performance. We provide the first examination of barcoding performance in a comprehensively sampled, diverse group (cypraeid marine gastropods, or cowries). We... |
2,336,251 | Oculopharyngeal muscular dystrophy - an under-diagnosed disorder? | Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscle disorder, usually of late onset. OPMD is among the few triplet repeat diseases/ polyalanine (poly(A)) expansion diseases for which the function of the mutated gene is quite well established. The disease is characterised by slowly progressive bila... |
2,336,252 | Low prevalence of primary antiretroviral resistance mutations and predominance of HIV-1 clade C at polymerase gene in newly diagnosed individuals from south Brazil. | We describe preliminary molecular characterization of HIV-1 pol from 108 consecutive HIV seropositive users of a Voluntary Counseling and Testing (VCT) site of Porto Alegre city, the major metropolitan area in the south of Brazil. Protease and partial reverse transcriptase regions were retrotranscribed from plasma HIV-... |
2,336,253 | PCR primers based on different portions of insertion elements can assist genetic relatedness studies, strain fingerprinting and species identification in rhizobia. | Using the sequence of an insertion element originally found in Rhizobium sullae, the nitrogen-fixing bacterial symbiont of the legume Hedysarum coronarium, we devised three primer pairs (inbound, outbound and internal primers) for the following applications: (a) tracing genetic relatedness within rhizobia using a metho... |
2,336,254 | Investigating the evolutionary history of the Pacific Northwest mesic forest ecosystem: hypothesis testing within a comparative phylogeographic framework. | We examine the evolution of mesic forest ecosystems in the Pacific Northwest of North America using a statistical phylogeography approach in four animal and two plant lineages. Three a priori hypotheses, which explain the disjunction in the mesic forest ecosystem with either recent dispersal or ancient vicariance, are ... |
2,336,255 | The analysis for identifying large DNA fragment aberrations of MSH2 and MLH1 genes from familial colorectal cancer in China. | To investigate the frequency of large fragment aberrations of MSH2 and MLH1 genes from Chinese colorectal cancer (CRC) patients with family history.</AbstractText>Sixteen exons of MSH2, nineteen exons of MLH1 and seven DNA sequences from the other genes of the samples were screened and checked by multiplex ligation dep... |
2,336,256 | Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy. | To construct a method for detecting the copy number of survival of motor neuron 1 gene (SMN1) with single copy difference based on real-time fluorescence quantitative PCR, and to make practical use of the method for acquiring the data on SMN1 copy number in Chinese as well as for screening the carriers of spinal muscul... |
2,336,257 | Linkage analyses of event-related potential slow wave phenotypes recorded in a working memory task. | Working memory is an essential component of wide-ranging cognitive functions. It is a complex genetic trait probably influenced by numerous genes that individually have only a small influence. These genes may have an amplified influence on phenotypes closer to the gene action. In this study, event-related potential (ER... |
2,336,258 | Characterization of Bison bison major histocompatibility complex class IIa haplotypes. | American bison (Bison bison) and domestic cattle (Bos taurus and Bos indicus) evolved from a common ancestor 1-1.4 million years ago. Nevertheless, they show dramatic differences in their susceptibility to infectious diseases, including malignant catarrhal fever (MCF). Although bison are highly susceptible to ovine her... |
2,336,259 | Immunologic significance of HLA class I genes in measles virus-specific IFN-gamma and IL-4 cytokine immune responses. | The variability of immune responses modulated by human leukocyte antigen (HLA) genes and secreted cytokines is a significant factor in the development of a protective effect of measles vaccine. We studied the association between type 1 helper T cells (Th1)- and Th2-like cytokine immune responses and HLA class I alleles... |
2,336,260 | Mitochondrial myopathies: diagnosis, exercise intolerance, and treatment options. | Mitochondrial myopathies are caused by genetic mutations that directly influence the functioning of the electron transport chain (ETC). It is estimated that 1 of 8,000 people have pathology inducing mutations affecting mitochondrial function. Diagnosis often requires a multifaceted approach with measurements of serum l... |
2,336,261 | A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity. | Benign recurrent vertigo (BRV) is a common disorder affecting up to 2% of the adult population and may be etiologically related to migraine because of similarities in the clinical spectrum of the phenotypes and a high co-morbidity within families. Many families have multiple-affected genetically related individuals sug... |
2,336,262 | Mutations or exclusion: an unusual case in paternity testing. | In an immigration case with the scope of family reunification, the DNA extracted from the saliva samples of the male child, the alleged mother and the putative father was typed with 22 autosomal short tandem repeat (STR) systems. In seven STR systems, the alleged mother could be excluded from maternity, and the case th... |
2,336,263 | An intervention study of smoking cessation with feedback on genetic cancer susceptibility in Japan. | To evaluate whether feedback of genetic information regarding an L-myc polymorphism, identified as impacting on tobacco-related cancer risk, has an influence on smoking cessation, an intervention study was conducted.</AbstractText>We recruited smokers from first-visit outpatients at Aichi Cancer Center Hospital. Six hu... |
2,336,264 | High-throughput screen for genes predominantly expressed in the ICM of mouse blastocysts by whole mount in situ hybridization. | Mammalian preimplantation embryos provide an excellent opportunity to study temporal and spatial gene expression in whole mount in situ hybridization (WISH). However, large-scale studies are made difficult by the size of the embryos ( approximately 60mum diameter) and their fragility. We have developed a chamber system... |
2,336,265 | Presymptomatic thyroidectomy in multiple endocrine neoplasia 2a. | To evaluate the value of prophylactic total thyroidectomy in multiple endocrine neoplasia 2a (MEN 2a), based on results of genetic testing, in a presymptomatic early stage of the disease.</AbstractText>Fourteen presymptomatic patients genetically diagnosed and surgically treated at our centre. We analysed age, gender, ... |
2,336,266 | [Mutational analysis of BRCA1 and BRCA2 genes in early-onset breast cancer patients in Shanghai]. | To investigate the prevalence of BRCA1 and BRCA2 mutations among early-onset breast cancer patients in Shanghai.</AbstractText>Fifty patients unselected for family history, who were diagnosed with breast cancer before the age of 40 years were analyzed. Among them, 13 patients have at least one first-degree relative aff... |
2,336,267 | [Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients]. | Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, ge... |
2,336,268 | Comparison of sequence analysis and INNO-LiPA HBV DR line probe assay in patients with chronic hepatitis B. | The aim of this study was to compare direct sequence analysis of partial HBV pol gene and Inno-LiPA HBV DR in serum samples of 120 chronic hepatitis B patients sent to the Clinical Microbiology Laboratory of Ege University Hospital because of lamivudine resistance. Sequence analysis was performed on ABI Prism 310 Genet... |
2,336,269 | Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. | Holoprosencephaly (HPE), the most common structural malformation of the forebrain in humans, can be detected early during pregnancy using prenatal ultrasonography . Among foetuses with a normal karyotype, 14% have mutations in the four main HPE genes (SHH, ZIC2, SIX3 and TGIF). Genomic rearrangements have now been impl... |
2,336,270 | Triple gene-deleted oncolytic herpes simplex virus vector double-armed with interleukin 18 and soluble B7-1 constructed by bacterial artificial chromosome-mediated system. | Conditionally replicating herpes simplex virus type 1 (HSV-1) vectors are promising therapeutic agents for cancer. Certain antitumor functions may be added to oncolytic activities of recombinant HSV-1 vectors by inserting transgenes into the viral genome. Because conventional homologous recombination techniques had req... |
2,336,271 | Clinical and genetic features of Hungarian achromatopsia patients. | To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients.</AbstractText>Twelve patients with congenital achromatopsia from nine Hungarian families were analyzed in this study. The patients underwent standard ophthalmological examination including detailed full... |
2,336,272 | A novel logistic model based on clinicopathological features predicts microsatellite instability in colorectal carcinomas. | High-frequency microsatellite instability has been reported to be associated with good prognosis in colorectal adenocarcinoma. However, methods to assess microsatellite instability (MIN) are based on genetic assays and are not ideally suited to most histopathology laboratories. The aim of the present study was to devel... |
2,336,273 | ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis. | In 2001, the American College of Obstetricians and Gynecologists and the American College of Medical Genetics introduced guidelines for prenatal and preconception carrier screening for cystic fibrosis. The American College of Obstetricians and Gynecologists has updated current guidelines for cystic fibrosis screening p... |
2,336,274 | BRCA-mutation-associated fallopian tube carcinoma: a distinct clinical phenotype? | To compare clinical and histologic features between fallopian tube cancers in women with germline BRCA mutations and sporadic cases.</AbstractText>Twenty-eight patients with fallopian tube cancer had BRCA mutation testing using multiplex polymerase chain reaction and protein truncation testing. Histologic slides were r... |
2,336,275 | The heritability of preterm delivery. | To study the heritability of preterm delivery.</AbstractText>Women who delivered a singleton infant at less than 36 weeks of gestation were asked about their family history. Twenty-eight families were identified in which the proband had at least five first- or second-degree relatives with preterm delivery. An extensive... |
2,336,276 | Fetal cells in a transcervical cell sample collected at 5 weeks of gestation. | Transcervical cell (TCC) sampling is being investigated as a promising method for obtaining fetal cells for prenatal genetic diagnosis. The present case report describes the identification of fetal cells by both fluorescent in situ hybridisation (FISH) and quantitative fluorescent polymerase chain reaction (QF-PCR) ana... |
2,336,277 | Reducing pain with genetic amniocentesis-A randomized trial of subfreezing versus room temperature needles. | To determine whether pain associated with second trimester genetic amniocentesis is decreased by using subfreezing rather than room temperature needles.</AbstractText>Subjects were randomized to a -14 degrees C or room temperature (20-22 degrees C) 22-gauge spinal needle. Patients, blinded to allocation, recorded antic... |
2,336,278 | Identification of significant periodic genes in microarray gene expression data. | One frequent application of microarray experiments is in the study of monitoring gene activities in a cell during cell cycle or cell division. A new challenge for analyzing the microarray experiments is to identify genes that are statistically significantly periodically expressed during the cell cycle. Such a challenge... |
2,336,279 | Are amniotic fluid C-reactive protein and glucose levels, and white blood cell counts at the time of genetic amniocentesis related with preterm delivery? | To compare women with spontaneous preterm delivery before 37 weeks and women who delivered at term with respect to amniotic fluid C-reactive protein (CRP), glucose levels, and white blood cell counts at the time of genetic amniocentesis.</AbstractText>The study was conducted on 216 pregnant women who underwent genetic ... |
2,336,280 | Isolation and Characterization of Burkholderia gladioli from Orchids in Hawaii. | Bacterial diseases of orchids continue to be serious problems. Bacterial strains were isolated from orchid plants exhibiting disease symptoms in Hawaii. Small to large leaf spots with or without water-soaking or soft rots were observed on various orchid genera, including Dendrobium, Oncidium, and Miltonia spp. and hybr... |
2,336,281 | Emerging technologies for identifying superior dairy cows in New Zealand. | The performance of animals is determined by the interaction of their genes with environmental circumstances. Accordingly, animals exhibiting superior performance are not necessarily the animals with the best genes nor are they the best choice of parents. Statistical analyses of production records for repeated traits, e... |
2,336,282 | Breeding dairy cows for the future in New Zealand. | A brief history of the breeding of dairy cattle in New Zealand is provided. Dairy farming in New Zealand is unique compared with the majority of dairy systems in the developed world. New Zealand has a dependence on grass-based diets and a strict requirement for a 365-day calving interval. Four main areas are discussed:... |
2,336,283 | Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. | The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated clear elucidation of genotype-phenotype associations.</AbstractText>Our objective was to determine genotype-phenotype associations in a cohort of patients with pheochr... |
2,336,284 | Nerve growth factor expression by PLG-mediated lipofection. | Biomaterials capable of efficient gene delivery provide a fundamental tool for basic and applied research models, such as promoting neural regeneration. We developed a system for the encapsulation and sustained release of plasmid DNA complexed with a cationic lipid and investigated their efficacy using in vitro models ... |
2,336,285 | p16INK4a and p14ARF methylation as a potential biomarker for human bladder cancer. | Promoter hypermethylation is one of the putative mechanisms underlying the inactivation of negative cell-cycle regulators. We examined whether the methylation status of p16(INK4a) and p14(ARF), genes located upstream of the RB and p53 pathway, is a useful biomarker for the staging, clinical outcome, and prognosis of hu... |
2,336,286 | [The significance of elbow dysplasia (ED) for breeding in Bernese Mountain Dogs in Germany]. | Results from the elbow dysplasia screening program in Bernese Mountain Dogs of Germany were analysed in respect to its relevance for genetic evaluation and breeding. In total 2677 gradings were used. The grading was performed radiographically according to the recommendations of the International Elbow Working Group (IE... |
2,336,287 | NOD2/CARD15 gene polymorphisms in idiopathic pulmonary fibrosis. | Micro-organisms, behaving in a non-infectious fashion, may be among the exogenous factor(s) believed to trigger idiopathic pulmonary fibrosis (IPF). One possible strategy to identify an individual's susceptibility to such microbial triggers, which are likely to be ubiquitous, is to investigate the molecular processes i... |
2,336,288 | From single cell gene-based diagnostics to diagnostic genomics: current applications and future perspectives. | Molecular diagnostics is a branch of clinical diagnostics that uses primarily DNA or RNA as a biomarker for clinical testing. It combines various gene-based amplification technologies with highly sophisticated detection methods for the clinical diagnosis of a vast variety of diseases including infectious diseases, canc... |
2,336,289 | Screening for HFE and iron overload. | Type 1 hereditary hemochromatosis is a common disorder of iron overload occurring in individuals homozygous for the C282Y HFE gene mutation. It can be a progressive and fatal condition. Early detection and phlebotomy prior to the onset of cirrhosis can reduce morbidity and normalize life expectancy. It is readily ident... |
2,336,290 | Genetic testing in pheochromocytoma or functional paraganglioma. | To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl).</AbstractText>We studied 314 patients with a pheo or a functional pgl, including 56 patients having a family history and/or a syndromic presentation and... |
2,336,291 | Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD. | Creutzfeldt-Jakob disease (CJD), the most common human prion disease, includes sporadic (s) and familial (f) forms. Regardless of etiology, both forms are thought to share the pathogenic mechanism whereby the cellular prion protein (PrP(C)) converts into its pathogenic isoform (PrP(Sc)). While PrP(C) conversion is thou... |
2,336,292 | Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). | In cathepsin D-deficient (CD-/-) and cathepsins B and L double-deficient (CB-/-CL-/-) mice, abnormal vacuolar structures accumulate in neurons of the brains. Many of these structures resemble autophagosomes in which part of the cytoplasm is retained but their precise nature and biogenesis remain unknown. We show here h... |
2,336,293 | Saccadic eye movement task identifies cognitive deficits in children with schizophrenia, but not in unaffected child relatives. | The delayed oculomotor response (DOR) task requires response inhibition followed by movement of gaze towards a known spatial location without a current stimulus. Abnormalities in response inhibition and in the spatial accuracy of the eye movement are found in individuals with schizophrenia and in many of their relative... |
2,336,294 | HLA and eye disease: a synopsis. | Human leukocyte antigen (HLA) gene products have been implicated in the pathogenesis of an increasing number of eye diseases, mainly inflammatory in nature. This perspective reviews the current hypotheses for why HLA polymorphisms are associated with specific eye diseases. Statistical problems in studies involving HLA ... |
2,336,295 | Coincidence of atopy and its profile (monosensitization/polysensitization) between sibling pairs. | Results of epidemiologic studies have shown that childhood atopy is probably a hereditary disorder. In the atopic population, some individuals are sensitized to only 1 class of allergens (monosensitized), whereas others are sensitized to more than 1 class of allergens (polysensitized).</AbstractText>To investigate whet... |
2,336,296 | [Treatment of Familial Adenomatous Polyposis and family screening]. | To reduce the mortality associated to Familial Adenomatous Polyposis (FAP), screening of close relatives of patients with the disease is crucial.</AbstractText>To analyze the results of the surgical treatment of patients with FAP, and to evaluate the family screening.</AbstractText>Clinical records of patients operated... |
2,336,297 | [Prophylactic thyroidectomy in children and young people with hereditary medullary thyroid carcinoma: a Chilean experience]. | With the availability of the RET proto-oncogene genetic testing, it is possible to perform prophylactic total thyroidectomy among carriers of RET mutation.</AbstractText>To evaluate the histological findings and the effects of the prophylactic total thyroidectomy in first-degree relatives of Chilean patients with multi... |
2,336,298 | Prenatal diagnosis of beta-thalassemia in the West Bank and Gaza. | This study focuses on the genetic aspect of beta-thalassemia among 88 at risk couples from the West Bank and Gaza, and the attitude of these couples toward prenatal diagnosis and its outcome as a preventive method.</AbstractText>We tested 130 prenatal samples for beta-thalassemia during the period from January 1999 to ... |
2,336,299 | Breast cancer in an MSH2 gene mutation carrier. | A 49-year-old woman presented with breast cancer. She is a member of a family with the hereditary nonpolyposis colorectal cancer syndrome for which a 2-base pair deletion in exon 11 of the mismatch repair gene MSH2 (c1705_1706 delGA) had been identified. Breast cancer is rare in the hereditary nonpolyposis colorectal c... |
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