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2,339,500 | Optimal robust non-unique probe selection using Integer Linear Programming. | Besides their prevalent use for analyzing gene expression, microarrays are an efficient tool for biological, medical and industrial applications due to their ability to assess the presence or absence of biological agents, the targets, in a sample. Given a collection of genetic sequences of targets one faces the challen... |
2,339,501 | Functional inference from non-random distributions of conserved predicted transcription factor binding sites. | Our understanding of how genes are regulated in a concerted fashion is still limited. Especially, complex phenomena like cell cycle regulation in multicellular organisms are poorly understood. Therefore, we investigated conserved predicted transcription factor binding sites (TFBSs) in man-mouse upstream regions of gene... |
2,339,502 | Clustering of Parkinson disease: shared cause or coincidence? | The spatial and temporal pattern of excessive disease occurrence, termed clustering, may provide clues about the underlying etiology.</AbstractText>To report the occurrence of 3 clusters of Parkinson disease (PD) in Canada.</AbstractText>We determined the population groups containing the clusters, geographical limits, ... |
2,339,503 | Molecular biology of primary hyperparathyroidism. | As molecular biology and genetic mapping receive wider application to human disease, genetic alterations have been identified with increased frequency in some patients with primary hyperparathyroidism(HPT). These alterations have been found in molecules related to cellular signaling and growth (RET proto-oncogene)and i... |
2,339,504 | Eye colour: portals into pigmentation genes and ancestry. | Several recent papers have tried to address the genetic determination of eye colour via microsatellite linkage, testing of pigmentation candidate gene polymorphisms and the genome wide analysis of SNP markers that are informative for ancestry. These studies show that the OCA2 gene on chromosome 15 is the major determin... |
2,339,505 | Screening for trisomy 21 in Flanders: a 10 years review of 40.490 pregnancies screened by maternal serum. | To evaluate maternal serum screening for trisomy 21 (MSS) in Flanders between 1992 and 2002.</AbstractText>Data of a large database on the results of MSS, nuchal translucency (NT) and pregnancy outcome were analysed retrospectively.</AbstractText>Despite an excellent performance of second trimester MSS at a maternal ag... |
2,339,506 | High-throughput detection of knockdown resistance in Myzus persicae using allelic discriminating quantitative PCR. | The peach-potato aphid Myzus persicae (Sulzer) has developed resistance to pyrethroid insecticides as a result of a mechanism conferring reduced nervous system sensitivity, termed knockdown resistance (kdr). This reduced sensitivity is caused by two mutations, L1014F (kdr) and M918T (super-kdr), in the para-type voltag... |
2,339,507 | Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. | To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET).</AbstractText>Essential tremor, the most common movement disorder, has long been recognised as an autosomal dominant disease. To date the genes involved in ET pathogenesis are still unknown. Several authors reported t... |
2,339,508 | Characterization of ataxias with magnetic resonance imaging and spectroscopy. | A wide variety of autosomal transmitted ataxias exist and their ultimate characterization requires genetic testing. Common clinical characteristics among different ataxia types complicate the choice of the appropriate genetic test. Magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) generally sho... |
2,339,509 | MEGA3: Integrated software for Molecular Evolutionary Genetics Analysis and sequence alignment. | With its theoretical basis firmly established in molecular evolutionary and population genetics, the comparative DNA and protein sequence analysis plays a central role in reconstructing the evolutionary histories of species and multigene families, estimating rates of molecular evolution, and inferring the nature and ex... |
2,339,510 | Autism and familial major mood disorder: are they related? | Family history studies of autism consistently reveal a large subgroup with a high incidence of major mood disorder in family members, suggesting the two entities are related clinically and genetically. This review examines this concept, comparing current clinlical and biological knowledge of autism and major mood disor... |
2,339,511 | American Association of Clinical Endocrinologists Medical Guidelines for clinical practice for the evaluation and treatment of hypogonadism in adult male patients--2002 update. | In these clinical practice guidelines, specific recommendations are made for determining the most effective methods of diagnosing and treating hypogonadism in adult male patients. The target populations for these guidelines include the following: (1) men with primary testicular failure requiring testosterone replacemen... |
2,339,512 | Phenotypic and genetic influences on test-day measures of acetone concentration in milk. | The objectives of this study were to estimate heritability of acetone concentration in milk, based on monthly samples of milk obtained as part of a routine milk testing program, and to evaluate the feasibility of using such data in a genetic evaluation program for selection against ketosis incidence. Milk samples were ... |
2,339,513 | Thymidylate synthase repeat polymorphisms and risk of neural tube defects in a population from the northern United Kingdom. | A 28-bp repeat polymorphism in the 5'UTR of the thymidylate synthase (TYMS) gene represents a candidate risk factor for neural tube defects (NTDs) due to involvement in folate-dependent homocysteine metabolism. Non-Hispanic, white, U.S. citizens carrying at least one 2x 28-bp repeat allele have recently been shown to b... |
2,339,514 | Lack of association between polymorphisms of the toll-like receptor 4 gene and cerebral ischemia. | Toll-like receptor-4 (TLR4), an important mediator of the innate immune response, is expressed in atherosclerotic lesions. The common single nucleotide exchange (Asp299Gly) of the TLR4 gene has been previously reported to impair TLR4 function and to be associated with a decreased risk of carotid atherosclerosis. Theref... |
2,339,515 | Familial adolescent-onset scoliosis and later segmental dystonia in an Irish family. | Adolescent-onset scoliosis occurs more frequently than expected in primary adult-onset cervical dystonia and a genetic association between the conditions has been postulated. The authors report a family in which four members have adult-onset cervical and/or brachial dystonia, two of whom have coexistent scoliosis. Four... |
2,339,516 | Two families with autosomal dominant progressive external ophthalmoplegia. | We report here the clinical and genetic features of two new families with autosomal dominant progressive external ophthalmoplegia (adPEO).</AbstractText>The examination of index patients included a detailed clinical characterisation, histological analysis of muscle biopsy specimens, and genetic testing of mitochondrial... |
2,339,517 | Genetic information: a joint account? | Does genetic information belong to the patient from whom it was obtained or to the whole family? The way in which this unavoidable question is answered has profound implications for the future of clinical practice in genetics |
2,339,518 | Human leukocyte antigen class II alleles and natural history of HPV 2/27/57-induced common warts. | Epidemiological studies have demonstrated an association between HLA-DQB1*03 alleles and the risk of cervical cancer induced by human papillomavirus (HPV). As persistence of HPV infection is required for developing cervical cancer, we wanted to elucidate the role of HLA-class II allele polymorphisms in the persistence ... |
2,339,519 | Dimension reduction methods for microarrays with application to censored survival data. | Recent research has shown that gene expression profiles can potentially be used for predicting various clinical phenotypes, such as tumor class, drug response and survival time. While there has been extensive studies on tumor classification, there has been less emphasis on other phenotypic features, in particular, pati... |
2,339,520 | Gene selection using a two-level hierarchical Bayesian model. | The fundamental problem of gene selection via cDNA data is to identify which genes are differentially expressed across different kinds of tissue samples (e.g. normal and cancer). cDNA data contain large number of variables (genes) and usually the sample size is relatively small so the selection process can be unstable.... |
2,339,521 | Limited agreement among three global gene expression methods highlights the requirement for non-global validation. | DNA microarrays have revolutionized biological research, but their reliability and accuracy have not been extensively evaluated. Thorough testing of microarrays through comparison to dissimilar gene expression methods is necessary in order to determine their accuracy.</AbstractText>We have systematically compared three... |
2,339,522 | Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population. | Beta-thalassemia is uncommon (0.5%) in the Romanian population, but it must be considered in the differential diagnosis of hypochromic anemia. The molecular characterization of beta-thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study in this region. Molecular analys... |
2,339,523 | Kirby-Bauer disc approximation to detect inducible third-generation cephalosporin resistance in Enterobacteriaceae. | Resistance to beta-lactam antibiotics in enteric Gram-negative bacilli may be difficult to detect using standard methods of either Kirby-Bauer disc diffusion (KBDD) or broth dilution for minimal inhibitory concentration (MIC). This difficulty is due to genetic differences in resistance determinants, differences in leve... |
2,339,524 | Translation repression by an RNA polymerase elongation complex. | Bacteriophage lambda N and bacterial Nus proteins together with a unique site NUT in the leader of the early viral N gene transcript bind RNA polymerase (RNAP) and form a highly processive antitermination complex; N bound at NUT also represses N translation. In this study, we investigate whether N and NUT cause N trans... |
2,339,525 | Genetic testing for single gene disorders. | Genetic testing for single gene disorders is becoming available in Sri Lanka. While it offers many benefits, there are concerns about psychological and social problems that can be a consequence of such tests. This article aims to review the potential benefits and disadvantages of genetic testing, and recommends mechani... |
2,339,526 | A longitudinal analysis of reproductive skew in male rhesus macaques. | One of the basic tenets of sexual selection is that male reproductive success should be large in polygynous species. Here, we analysed 6 years of molecular genetic data from a semi-free-ranging population of rhesus macaques (Macaca mulatta), using Nonac's B index, to assess the level of male reproductive skew in the st... |
2,339,527 | Genetic testing for breast and ovarian cancer susceptibility: evaluating direct-to-consumer marketing--Atlanta, Denver, Raleigh-Durham, and Seattle, 2003. | Breast and ovarian cancer are the second and fifth leading causes of cancer death, respectively, among women in the United States. One in eight women will have breast cancer during their lifetimes, and one in 70 will have ovarian cancer. Mutations in two genes, BRCA1 and BRCA2 (BRCA1/2), are associated with predisposit... |
2,339,528 | Medulloblastoma and retinoblastoma: oncology recapitulates ontogeny. | One major factor hindering progress of pediatric cancers of the nervous system has been the lack of satisfactory model systems for testing novel therapies. A mouse strain, mutant for the Rb1 gene was generated 12 years ago in the hope of producing a model in which to study retinoblastoma. Surprisingly, the Rb(+/-) mice... |
2,339,529 | Understanding germ-line mutations in BRCA1. | Germ-line mutations in BRCA1 account for the majority of familial breast and ovarian cancer cases and development of cancer in individuals who carry such mutations requires somatic inactivation of the normal allele. BRCA1 is highly polymorphic with more than 1,200 distinct documented variants. Approximately 70% of repo... |
2,339,530 | Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. | Mental retardation (MR) is the most common developmental disability, affecting approximately 2% of the population. The causes of MR are diverse and poorly understood, but chromosomal rearrangements account for 4-28% of cases, and duplications/deletions smaller than 5 Mb are known to cause syndromic MR. We have previous... |
2,339,531 | Genetic counseling for familial conditions during pregnancy: an analysis of patient characteristics. | Reproductive genetic counseling for a familial genetic risk factor preferably takes place before conception. However, of the women with a family history of genetic conditions who attend our department of clinical genetics, about 10-20% attend for the first time during a pregnancy. The current study aims to explore pati... |
2,339,532 | Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). | Mutations in genes known to be responsible for most of the recognizable syndromes associated with bilateral coronal synostosis can be detected by molecular testing. The genetic alterations that could cause unilateral coronal synostosis are more elusive. It is recognized that FGFR and TWIST mutations can give rise to ei... |
2,339,533 | Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases. | Fetal DNA in maternal plasma may represent a source of genetic material for prenatal noninvasive diagnosis of genetic diseases. We evaluated a cohort of physiological pregnancies to determine if fetal DNA can be retrieved at any gestational week in sufficient quantity to be analyzed with advanced mutation detection tec... |
2,339,534 | RET germline mutation in codon 791 in a family representing 3 generations from age 5 to age 70 years: should thyroidectomy be performed? | To describe a kindred with a rare RET germline mutation in codon 791 and discuss potential management strategies.</AbstractText>We present clinical and biochemical data as well as results of mutation analysis in our study subjects and provide an overview of related published reports.</AbstractText>Multiple endocrine ne... |
2,339,535 | Single step high-throughput determination of Toll-like receptor 4 polymorphisms. | Toll-like receptors are central components of host defence in humans, responsible for recognition of pathogen-associated molecular patterns and activation of innate immunity. Toll-like receptor 4 (TLR4) is activated by lipopolysaccharide (LPS) and other microbial components, thereby initiating the expression and releas... |
2,339,536 | Creating a stem cell donor: a case study in reproductive genetics. | During the nearly 10 years since its introduction, preimplantation genetic diagnosis (PGD) has been used predominantly to avoid giving birth to a child with identified genetic disease. Recently, PGD was used by a couple not only to test IVF-created embryos for genetic disease, but also to test for a nondisease trait re... |
2,339,537 | A genome scan and follow-up study identify a bipolar disorder susceptibility locus on chromosome 1q42. | In this study, we report a genome scan for psychiatric disease susceptibility loci in 13 Scottish families. We follow up one of the linkage peaks on chromosome 1q in a substantially larger sample of 22 families affected by schizophrenia (SCZ) or bipolar affective disorder (BPAD). To minimise the effect of genetic heter... |
2,339,538 | Early-onset Alzheimer disease: when is genetic testing appropriate? | Alzheimer disease (AD) is a neurodegenerative disease that is currently not preventable or curable. Early-onset AD can be due to mutations in several autosomal dominant genes. Clinical testing is available for presenilin 1 (PS1), which is the most common of these genes. However, many practical and ethical issues must b... |
2,339,539 | Beta 2-adrenergic receptor polymorphisms and haplotypes are associated with airways hyperresponsiveness among nonsmoking men. | To investigate the relationship of common single nucleotide polymorphisms (SNPs) of the beta(2)-adrenergic receptor (AR) gene at codons 16 and 27, and the intermediate phenotype of airways hyperresponsiveness.</AbstractText>A case-control study in 543 white men (152 case patients and 391 control subjects), who were nes... |
2,339,540 | Screening for novel ENU-induced rhythm, entrainment and activity mutants. | Chemical mutagenesis has provided an opportunity to develop and expand the repertoire of behavioural mutants for gene function studies. With this in mind, we have established a screen in mice for mutations affecting circadian rhythms, entrainment to light and other wheel-running parameters. The screen consists of an as... |
2,339,541 | Polymorphism of the mast cell chymase gene (CMA1) promoter region: lack of association with asthma but association with serum total immunoglobulin E levels in adult atopic dermatitis. | Mast cell chymase has the potential to be an important mediator of inflammation and remodelling in the asthmatic lung. Previous studies have examined association between promoter polymorphism of the chymase gene (CMA1) and allergic phenotypes but the significance of this polymorphism is unclear. We have examined associ... |
2,339,542 | The Goodman-Kruskal coefficient and its applications in genetic diagnosis of cancer. | Increasing interest in new pattern recognition methods has been motivated by bioinformatics research. The analysis of gene expression data originated from microarrays constitutes an important application area for classification algorithms and illustrates the need for identifying important predictors. We show that the G... |
2,339,543 | Association between HLA class II genes and autoantibodies to cyclic citrullinated peptides (CCPs) influences the severity of rheumatoid arthritis. | The functional role of HLA class II molecules in the pathogenesis of rheumatoid arthritis (RA) is unclear. HLA class II molecules are involved in the interaction between T and B lymphocytes required for long-lived B cell responses and generation of high-affinity IgG antibodies. We undertook this study to investigate th... |
2,339,544 | Mitochondrial DNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database. | Large forensic mtDNA databases which adhere to strict guidelines for generation and maintenance, are not available for many populations outside of the United States and western Europe. We have established a high quality mtDNA control region sequence database for urban Nairobi as both a reference database for forensic i... |
2,339,545 | The predictability of factor V Leiden (FV:Q(506)) gene mutation via clotting-based diagnosis of activated protein C resistance. | After the discovery of activated protein C resistance (APCR) due to factor V Leiden mutation and the causal relationship of the phenomenon with clinical thromboembolism, a wide variety of functional clotting-based assays were developed for testing of APCR in relation to the specific DNA-based analysis of FV:Q(506) Leid... |
2,339,546 | Cost-effectiveness analysis of HLA B*5701 genotyping in preventing abacavir hypersensitivity. | Abacavir, a human immunodeficiency virus-1 (HIV-1) nucleoside-analogue reverse transcriptase inhibitor, causes severe hypersensitivity in 4-8% of patients. HLA B*5701 is a known genetic risk factor for abacavir hypersensitivity in Caucasians. Our aim was to confirm the presence of this genetic factor in our patients, a... |
2,339,547 | MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. | The analysis of circulating nucleic acids has revealed applications in the noninvasive diagnosis, monitoring, and prognostication of many clinical conditions. Circulating fetal-specific sequences have been detected and constitute a fraction of the total DNA in maternal plasma. The diagnostic reliability of circulating ... |
2,339,548 | Preliminary evaluation of DNA damage related with the smoking habit measured by the comet assay in whole blood cells. | The alkaline single-cell gel electrophoresis (SCGE) assay, also called the comet assay, is a rapid and simple method for the detection of DNA damage in individual cells. The objective of this study was to establish if the alkaline SCGE assay in whole blood cells gives similar results as the same method in isolated lymp... |
2,339,549 | Haplotype associations of the MHC with psoriasis vulgaris in Chinese Hans. | Summary Haplotype associations of the major histocompatibility complex (MHC) with psoriasis vulgaris (PV) have been demonstrated in different racial or ethnic populations. The objective of this study was to demonstrate the different haplotype associations of the MHC in Chinese patients with psoriasis according to the t... |
2,339,550 | World-wide survey of an Accord insertion and its association with DDT resistance in Drosophila melanogaster. | Previous work showed that insecticide resistance in Drosophila melanogaster is correlated with the insertion of an Accord-like element into the 5' region of the cytochrome P450 gene, Cyp6g1. Here, we study the distribution of the Accord-like element in 673 recently collected D. melanogaster lines from 34 world-wide pop... |
2,339,551 | No evidence of an MHC-based female mating preference in great reed warblers. | Female mate-choice based on genetic compatibility is an area of growing interest. The major histocompatibility complex (MHC) genes are likely candidates for such mate-choice since these highly polymorphic genes may both increase offspring viability and also provide direct cues for mate-choice. In great reed warblers, f... |
2,339,552 | Population genetics after fragmentation: the case of the endangered Spanish imperial eagle (Aquila adalberti). | The highly endangered Spanish imperial eagle, Aquila adalberti, has suffered from both population decline and fragmentation during the last century. Here we describe the current genetic status of the population using an extensive sampling of its current distribution range and both mitochondrial control region sequences... |
2,339,553 | Microsatellite variation reveals high levels of genetic variability and population structure in the gorgonian coral Pseudopterogorgia elisabethae across the Bahamas. | The primary mechanism of gene flow in marine sessile invertebrates is larval dispersal. In Pseudopterogorgia elisabethae, a commercially important Caribbean gorgonian coral, a proportion of the larvae drop to the substratum within close proximity to the maternal colony, and most matings occur between individuals in clo... |
2,339,554 | Genetic diversity and population structure of Tasmanian devils, the largest marsupial carnivore. | Genetic diversity and population structure were investigated across the core range of Tasmanian devils (Sarcophilus laniarius; Dasyuridae), a wide-ranging marsupial carnivore restricted to the island of Tasmania. Heterozygosity (0.386-0.467) and allelic diversity (2.7-3.3) were low in all subpopulations and allelic siz... |
2,339,555 | Retinoblastoma in Karachi, Pakistan. | The objective was to assess epidemiologic aspects of retinoblastoma development in Karachi, Pakistan. Incident cases, diagnosed clinically or microscopically and registered at Karachi Cancer Registry (KCR) during 1(st)January 1998 to 31(st) December 2002 were reabstracted, rechecked and reanalyzed for this purpose. One... |
2,339,556 | [The right to be born and the need to be born healthy... questions in medical ethics]. | Science, thanks to the commitment of huge amount of human capitals, in many cases supported even by enormous fund investment, gain continuously ground reaching new position and spreading out the borders on human chances in a sphere so delicate like birth. New genetic screening tests, new contraceptive drugs using even ... |
2,339,557 | Carrier screening for Canavan disease in Australia. | This study reports, for the first time, the carrier frequency of Canavan disease in the Ashkenazi Jewish population in Australia, and the identification of a novel mutation in the ASPA gene. |
2,339,558 | HIV RNA testing in the context of nonoccupational postexposure prophylaxis. | The specificity and positive predictive value of human immunodeficiency virus (HIV) RNA assays have not been evaluated in the setting of postexposure prophylaxis (PEP).</AbstractText>Plasma from subjects enrolled in a nonoccupational PEP study was tested with 2 branched-chain DNA (bDNA) assays, 2 polymerase chain react... |
2,339,559 | Association of human-leukocyte-antigen class I (B*0703) and class II (DRB1*0301) genotypes with susceptibility and resistance to the development of severe acute respiratory syndrome. | Severe acute respiratory syndrome (SARS) is a public health concern worldwide. By studying the human leukocyte antigen (HLA) types A, B, DR, and DQ alleles in 90 Chinese patients with serologically confirmed SARS infections, we identified a strong association between HLA-B*0703 (OR, 4.08; 95% CI, 2.03-8.18; P=.00072 [B... |
2,339,560 | [A psychodynamic approach in counselling vulnerable persons for Chorea Huntington -- a case report]. | The availability of predictive testing for neurodegenerative diseases such as Chorea Huntington has far-reaching consequences on psychological, ethical, and legal issues. The special situation of persons vulnerable for the disease requires a comprehensive counselling including psychotherapeutic measures. On the basis o... |
2,339,561 | Identification of the severe acute respiratory syndrome coronavirus by simultaneous multigene DNA sequencing. | The recent severe acute respiratory syndrome (SARS) outbreak resulted in calls for an accurate diagnostic test that can be used not only for routine testing but also for generating nucleotide sequences to monitor the epidemic. Although the identity of the SARS coronavirus (SARS-CoV) genome was confirmed by DNA sequenci... |
2,339,562 | Detection of human immunodeficiency virus type 1 antiretroviral resistance mutations by high-density DNA probe arrays. | Genotypic resistance testing has become an important tool in the clinical management of patients infected with human immunodeficiency virus type 1 (HIV-1). Standard sequencing methodology and hybridization-based technology are the two principal methods used for HIV-1 genotyping. This report describes an evaluation of a... |
2,339,563 | Eucaryotic expression of the nucleocapsid protein gene of porcine circovirus type 2 and use of the protein in an indirect immunofluorescence assay for serological diagnosis of postweaning multisystemic wasting syndrome in pigs. | The purpose of this study was to develop a sensitive, rapid, and inexpensive immunofluorescence assay (IFA) using a recombinant porcine circovirus type 2 (PCV2) nucleocapsid protein for the serological detection of PCV2-specific antibodies in pig sera. The viral nucleocapsid protein encoded by the PCV2 ORF2 gene has re... |
2,339,564 | The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V. | Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on chromosome 11q12-q14 in a single large pedigree. We recently found hete... |
2,339,565 | Multiprotein HIV type 1 clade B DNA/MVA vaccine: construction, safety, and immunogenicity in Macaques. | Recently, a simian/human immunodeficiency virus (SHIV) vaccine consisting of priming with a Gag-Pol-Env-expressing DNA and boosting with a Gag-Pol-Env-expressing recombinant modified vaccinia Ankara (rMVA) has successfully controlled a virulent SHIV challenge in a macaque model. In this, and the accompanying paper, we ... |
2,339,566 | [Identification and management of HNPCC syndrome (hereditary non polyposis colon cancer), hereditary predisposition to colorectal and endometrial adenocarcinomas]. | The HNPCC syndrome (hereditary non polyposis colon cancer) is an inherited condition defined by clinical and genealogical information, known as Amsterdam criteria. In about 70% of cases, HNPCC syndrome is caused by germline mutations in MMR genes, leading to microsatellite instability of tumor DNA (MSI phenotype). Pati... |
2,339,567 | Fecal-based DNA assays: a new, noninvasive approach to colorectal cancer screening. | Stool-based DNA testing is a new, noninvasive method of colorectal cancer screening. Because it is easier to use and more sensitive than fecal occult blood testing, physicians may be more likely to recommend it, and patients may be more apt to comply. Although it is expensive, initial assessments show it to be cost-eff... |
2,339,568 | Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma. | To the authors' knowledge, there have been few studies of the psychologic distress after disclosure of genetic test results for hereditary nonpolyposis colorectal carcinoma (HNPCC). The objectives of this study were to identify the prevalence rates and predictors of psychologic distress and to evaluate the feelings of ... |
2,339,569 | Establishing the multidisciplinary care of patients with cancer in the state of Delaware. | Delaware has the fifth highest cancer death rate in the U.S. As part of a comprehensive program to decrease the cancer mortality and incidence in the state, an infrastructure to establish the multidisciplinary care of patients with cancer was established. In May 2002, Christiana Care Health Services opened the Helen F.... |
2,339,570 | Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication. | Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) are found in 70-80% of cases of classical Rett syndrome (RTT) and in about 50% of cases of preserved speech variant (PSV). This high percentage of MECP2 mutations, especially in classical RTT cases, suggests that another major RTT locus is unlikely. Mi... |
2,339,571 | Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: comparison with the interphase FISH method. | Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are the two most common peripheral neuropathies, with incidences of about 1 in 2,500. Several techniques can be used to detect the typical 1.5-Mb duplication or deletion associated with these respective condi... |
2,339,572 | The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles. | Classic cystic fibrosis (CF) is caused by two loss-of-function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, whereas patients with nonclassic CF have at least one copy of a mutant gene that retains partial function of the CFTR protein. In addition, there are several other phenotypes ... |
2,339,573 | Genetic pathways and new progression markers for prostate cancer defined by microsatellite allelotyping. | A prospective study was carried out on a large cohort of males undergoing radical retropubic prostatectomy in order to identify genetic marker regions significantly associated with tumor formation. By comprehensive allotyping of chromosomes known to be associated with prostate carcinogenesis, an algorithm could be form... |
2,339,574 | [Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis]. | Hearing impairment (HI) is one of the most common neurosensory disorders, with sensorineural hereditary HI being the most common form. Mitochondrial maternally inherited HI appears to be increasing in frequency. The incidence of mitochondrial defects causing HI is estimated to be between 6 and 33% of all hearing defici... |
2,339,575 | [The genetic revolution-impact on therapy and prevention]. | After the successful sequencing of the human genome the genetic variation between individuals will be worked out in the near future. The genetic differences are the basis for different predispositions to diseases. The next goal is to correlate the host of genetic variants with phenotypes. This endeavor has already been... |
2,339,576 | Deciphering diversity in populations of various linguistic and ethnic affiliations of different geographical regions of India: analysis based on 15 microsatellite markers. | The extent of genetic polymorphism at fifteen autosomal microsatellite markers in 54 ethnically, linguistically and geographically diverse human populations of India was studied to decipher intrapopulation diversity. The parameters used to quantify intrapopulation diversity were average allele diversity, average hetero... |
2,339,577 | Motivation and ability to walk for a food reward in fast- and slow-growing broilers to 12 weeks of age. | Poor physical abilities of broilers may prevent them from performing behaviours for which they are motivated. The aim of this study was to measure the influence of physical ability and motivation on the performance of broilers in short physical tasks. We tested birds from a fast- and a slow-growing broiler strain in a ... |
2,339,578 | Polyphasic study of the genetic diversity of lactobacilli associated with 'Almagro' eggplants spontaneous fermentation, based on combined numerical analysis of randomly amplified polymorphic DNA and pulsed-field gel electrophoresis patterns. | The goal of this study was to assess the genetic diversity of lactic acid bacteria (LAB) from the complex natural ecosystem present in the spontaneous fermentation of 'Almagro' eggplants by a polyphasic approach based on molecular techniques.</AbstractText>Randomly amplified polymorphic DNA (RAPD) and pulsed-field gel ... |
2,339,579 | [Validation of the Diagnostic Interview for Genetic Studies (DIGS) in Colombia]. | An interview tool, Diagnostic Interview for Genetic Studies (DIGS 3.0), was translated into Spanish for application in studies of psychiatric disorders in Colombia. Two Spanish translations of the original English version of DIGS were prepared and back-translated into English. A review committee verified the linguistic... |
2,339,580 | A physician's duty to warn family members of genetic risks: limiting the importance of Tarasoff. | This paper addresses whether a physician should be held liable for failing to warn family members of potential risks of genetic disease. Resolution of this complex issue requires consideration of physician-patient responsibility, the psychological impact of the warning, the efficacy of genetic testing, and the need to ... |
2,339,581 | A multistage testing strategy for detection of quantitative trait Loci affecting disease resistance in Atlantic salmon. | A multistage testing strategy to detect QTL for resistance to infectious salmon anemia (ISA) in Atlantic salmon is proposed. First, genotyping of amplified fragment length polymorphisms (AFLP) and a transmission disequilibrium test (TDT) were carried out using dead offspring from a disease resistance challenge test. Se... |
2,339,582 | Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12. | Age-related macular degeneration (AMD) is a complex disorder that is responsible for the majority of central vision loss in older adults living in developed countries. Phenotypic and genetic heterogeneity complicate the analysis of genome-wide scans for AMD susceptibility loci. The ordered subset analysis (OSA) method ... |
2,339,583 | Fanconi anaemia and leukaemia - clinical and molecular aspects. | Fanconi anaemia (FA) is an autosomal recessive chromosomal instability disorder, which is characterized by congenital abnormalities, defective haemopoiesis and a high risk of developing acute myeloid leukaemia and certain solid tumours. It can be caused by mutations in at least eight different genes. Molecular studies ... |
2,339,584 | How should preconceptional cystic fibrosis carrier screening be provided? Opinions of potential providers and the target population. | Since the identification of the cystic fibrosis (CF) gene, large-scale CF carrier screening has become possible. One possible target group is couples planning a pregnancy (preconceptional screening), providing a maximum number of reproductive options and a minimum of time constraints.</AbstractText>To identify obstacle... |
2,339,585 | Awareness of genetic testing for increased cancer risk in the year 2000 National Health Interview Survey. | This study explores factors associated with differential awareness of genetic tests for increased cancer risk in the US.</AbstractText>27,405 respondents from the 2000 National Health Interview Survey, ages 25+, were asked if they had heard of these tests.</AbstractText>44.4% said 'yes', including 49.9% of whites, 32.9... |
2,339,586 | Ethical aspects of genetic testing in the workplace. | The European Group on Ethics and New Technologies, which advises the European Commission, has published an opinion paper on ethical aspects of genetic testing in the workplace. The paper goes well beyond the usual ethical issues, presenting a summary of genetic testing in the workplace in the United States and Europe a... |
2,339,587 | Mucolipidosis type IV a rare genetic disorder: new addition to the Ashkenazi Jewish panel. | Mucolipidosis type IV (MLIV) is a rare genetic disorder that primarily affects persons of Ashkenazi Jewish descent. Current information available about testing options and the Ashkenazi Jewish Screening panel, including the addition of screening for MLIV, is presented. The importance of genetic screening and counseling... |
2,339,588 | Development of the AmpFISTR SEfiler PCR amplification kit: a new multiplex containing the highly discriminating ACTBP2 (SE33) locus. | The AmpFISTR SEfiler kit co-amplifies 11 short tandem repeat loci including SE33 in a single multiplex. After establishing the optimum in primer titration studies, the primer concentrations of all loci in the multiplex were chosen such that the heterozygote peak height ratios of each of the loci were balanced. The comb... |
2,339,589 | Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects. | <AbstractText Label="AIMS/HYPOTHESIS" NlmCategory="OBJECTIVE">The development of insulin resistance may contribute to the occurrence and progression of the metabolic syndrome associated with obesity. Components contributing to the insulin pathway and its regulation are good candidates for the molecular study of metabol... |
2,339,590 | Mutation detection of GJB2 using IsoCode and real-time quantitative polymerase chain reaction with SYBR green I dye for newborn hearing screening. | <AbstractText Label="OBJECTIVES/HYPOTHESIS" NlmCategory="OBJECTIVE">Recent developments in molecular genetics have opened a new era in genetic analysis accompanied by new concepts concerning genetic disorders. Although 30 genes responsible for nonsyndromic deafness have been discovered as of March 27, 2003, the connexi... |
2,339,591 | Partial trisomy 13 with features similar to C syndrome. | We report a case of partial trisomy 13 with trigonocephaly, upslant eyes, long smooth philtrum, polydactyly, agenesis of right kidney and mild developmental delay. In this family phenotypically normal mother had pericentric inversion of chromosome 13 and the child (proband) received recombinant 13 from the mother. Gene... |
2,339,592 | Methodology in longitudinal studies on psychological effects of predictive DNA testing: a review. | In the last two decades predictive testing programs have become available for various hereditary diseases, often accompanied by follow-up studies on the psychological effects of test outcomes. The aim of this systematic literature review is to describe and evaluate the statistical methods that were used in these follow... |
2,339,593 | Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria. | Mutations in the E-cadherin (CDH1) gene are a well documented cause of hereditary diffuse gastric cancer (HDGC). Development of evidence based guidelines for CDH1 screening for HDGC have been complicated by its rarity, variable penetrance, and lack of founder mutations.</AbstractText>Forty three new gastric cancer (GC)... |
2,339,594 | Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. | Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1, BRCA2, MLH1, MSH2, TP53, and PTEN, is becoming an increasingly important part of clinical practice. Interpretation of truncating mutations, gene rearrangements, and obvio... |
2,339,595 | Analysis of European mitochondrial haplogroups with Alzheimer disease risk. | We examined the association of mtDNA variation with Alzheimer disease (AD) risk in Caucasians (989 cases and 328 controls) testing the effect of individual haplogroups and single nucleotide polymorphisms (SNPs). Logistic regression analyses were used to assess risk of haplogroups and SNPs with AD in both main effects a... |
2,339,596 | Searching for genomic variants in IGF2 and CDKN1C in Silver-Russell syndrome patients. | Silver-Russell syndrome (SRS) is a heterogeneous syndrome with evidence for a substantial role of genetic factors in its etiology. Apart from other specific clinical features, severe intrauterine and postnatal growth retardation are the dominant characteristics of SRS. Therefore, studies on the genetic basis of the dis... |
2,339,597 | Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. | To determine the nature and course of ophthalmologic abnormalities in congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome in a genetically verified group of 9 patients.</AbstractText>Observational case series.</AbstractText>Nine affected male individuals of 5 pedigrees aged 1.3 to 16.8 years were examin... |
2,339,598 | The usefulness of buccal swabs for mutation screening in patients with suspected corneal dystrophies. | To make ophthalmologists aware of the usefulness of buccal swabs for the collection of cells from which DNA may be extracted to be used in genetic screening of patients with known or suspected inherited ocular disorders, such as corneal dystrophies.</AbstractText>Illustrative interventional case report.</AbstractText>B... |
2,339,599 | Prolonged biologically active transgene expression driven by HSV LAP2 in brain in vivo. | Herpes simplex virus (HSV) naturally establishes a life-long latent state in neurons, characterized by the expression of latency-associated transcripts (LATs) in the absence of viral lytic functions, and the latency-associated promoter (LAP2) has been identified as a moveable element responsible for the expression of L... |
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