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2,337,300 | Reproduction, genetics and the law. | Both reproductive medicine and genetics are seeing rapid, and in some instances revolutionary, medical and scientific advances. Courts have been called upon to resolve a variety of novel disputes arising from these areas, and more can be anticipated as these technologies continue to develop and their use becomes more w... |
2,337,301 | Comparison of quantitative and molecular variation in agroforestry populations of the shea tree (Vitellaria paradoxa C.F. Gaertn) in Mali. | In this study we investigated the within- and between-population genetic variation using microsatellite markers and quantitative traits of the shea tree, Vitellaria paradoxa, an important agroforestry tree species of the Sudano-Sahelian region in Africa. Eleven populations were sampled across Mali and in northern C... |
2,337,302 | Testing marker-based estimates of heritability in the wild. | Marker-based estimates of heritability are an attractive alternative to pedigree-based methods for estimating quantitative genetic parameters in field studies where it is difficult or impossible to determine relationships and pedigrees. Here I test the ability of the marker-based method to estimate heritability of a su... |
2,337,303 | Landscape genetics of the blotched tiger salamander (Ambystoma tigrinum melanostictum). | The field of landscape genetics has great potential to identify habitat features that influence population genetic structure. To identify landscape correlates of genetic differentiation in a quantitative fashion, we developed a novel approach using geographical information systems analysis. We present data on blotched ... |
2,337,304 | Development of anonymous cDNA microarrays to study changes to the Senecio floral transcriptome during hybrid speciation. | Interspecific hybridization is an important process through which abrupt speciation can occur. In recent years, genetic changes associated with hybrid speciation have been identified through a variety of techniques, including AFLP/SSR mapping, GISH/FISH and cDNA-AFLP differential display. However, progress in using mic... |
2,337,305 | Conservation implications of complex population structure: lessons from the loggerhead turtle (Caretta caretta). | Complex population structure can result from either sex-biased gene flow or population overlap during migrations. Loggerhead turtles (Caretta caretta) have both traits, providing an instructive case history for wildlife management. Based on surveys of maternally inherited mtDNA, pelagic post-hatchlings show no populati... |
2,337,306 | Coincidence of atopy profile in terms of monosensitization and polysensitization in children and their parents. | Results from epidemiologic studies have shown that childhood atopy is probably a hereditary disorder, because the offspring of affected parents have a higher risk of developing atopy. Among the atopic population, some subjects are sensitized to only one class of allergens (monosensitized), while other subjects are sens... |
2,337,307 | Glyphosate-tolerant soybeans remain compositionally equivalent to conventional soybeans (Glycine max L.) during three years of field testing. | Previous studies have shown that the composition of glyphosate-tolerant soybeans (GTS) and selected processed fractions was substantially equivalent to that of conventional soybeans over a wide range of analytes. This study was designed to determine if the composition of GTS remains substantially equivalent to conventi... |
2,337,308 | [Genetically marking of natural biocontrol bacterium Bacillus subtilis strains with green fluorescent protein gene]. | The full length sequence of the promoter and gfp gene were obtained respectively by PCR with two pairs unique primers PxyF/R and primers gfpF/R, which were designed according to the gfp gene and promoter sequence of xylase operon from Bacillus subtilis 168, and the DNA template plasmids pHT315-xyIR and pGFPuv. Furtherm... |
2,337,309 | The genetics of muscle atrophy and growth: the impact and implications of polymorphisms in animals and humans. | Much of the vast diversity we see in animals and people is governed by genetic loci that have quantitative effects of phenotype (quantitative trait loci; QTLs). Here we review the current knowledge of the genetics of atrophy and hypertrophy in both animal husbandry (meat quantity and quality), and humans (muscle size a... |
2,337,310 | Characterization of Salmonella enterica serovar Typhimurium strains of veterinary origin by molecular typing methods. | Twenty-eight strains of Salmonella enterica serovar Typhimurium were characterized by three PCR-based methods. Ten strains harbored type I integrons and two different integron profiles were detected. Typing by amplified fragment length polymorphism (AFLP) resulted in observation of 10 profiles that differed by one to s... |
2,337,311 | Linkage of genetics and ethics: more crossing over is needed. | Since the development of recombinant DNA technology in the mid 1970s, there has been increasing interest in the ethical, legal, and social implications of genetics and related fields. The web sites of five different organizations (government, academic, and independent not-for-profit) that deal explicitly with genetics ... |
2,337,312 | Genetic characterisation of dough rheological properties in a wheat doubled haploid population: additive genetic effects and epistatic interactions. | Doubled haploid lines (n = 160) from a cross between wheat cultivars 'Cranbrook' (high dough extensibility) and 'Halberd' (low dough extensibility) were grown at three Australian locations. The parents differ at all high- and low-molecular-weight glutenin loci. Dough rheological parameters were measured using small-sca... |
2,337,313 | Fragile X syndrome: an update and review for the primary pediatrician. | Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. Since the initial identification of the responsible gene more than a decade ago, substantial progress has been made in both the clinical aspects of the disorder and its mechanistic basis; hence, it is important for primary care physician... |
2,337,314 | An integrative genomics approach to infer causal associations between gene expression and disease. | A key goal of biomedical research is to elucidate the complex network of gene interactions underlying complex traits such as common human diseases. Here we detail a multistep procedure for identifying potential key drivers of complex traits that integrates DNA-variation and gene-expression data with other complex trait... |
2,337,315 | On the probability that a novel variant is a disease-causing mutation. | When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing the probability that the novel SNP might actually be a neutral variant. We have developed a population genetics-based me... |
2,337,316 | The maize root transcriptome by serial analysis of gene expression. | Serial Analysis of Gene Expression was used to define number and relative abundance of transcripts in the root tip of well-watered maize seedlings (Zea mays cv FR697). In total, 161,320 tags represented a minimum of 14,850 genes, based on at least two tags detected per transcript. The root transcriptome has been sample... |
2,337,317 | Surrogate splicing for functional analysis of sesquiterpene synthase genes. | A method for the recovery of full-length cDNAs from predicted terpene synthase genes containing introns is described. The approach utilizes Agrobacterium-mediated transient expression coupled with a reverse transcription-polydeoxyribonucleotide chain reaction assay to facilitate expression cloning of processed transcri... |
2,337,318 | IL-2 and TNF-alpha promoter polymorphisms in patients with acute kidney graft rejection. | Proinflammatory cytokines have been implicated in the pathogenesis of acute kidney allograft rejection. The aim of the study was to examine the association between interleukin (IL)-2 -330 and tumor necrosis factor (TNF)-alpha -308 promoter polymorphisms and acute kidney allograft rejection.</AbstractText>The study incl... |
2,337,319 | Mice severely deficient in growth hormone have normal hematopoiesis. | Many studies suggest that growth hormone (GH) is important for hematopoietic stem cell (HSC) function. The objective of this study is to determine if the genetic absence of GH reduces hematopoietic function and recovery, by testing various points in hematopoiesis, from numbers and functional abilities of primitive stem... |
2,337,320 | Community-associated methicillin-resistant Staphylococcus aureus in hospital nursery and maternity units. | Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) has rarely been reported in the hospital setting. We report an outbreak of 7 cases of skin and soft tissue infections due to a strain of CA-MRSA. All patients were admitted to the labor and delivery, nursery, or maternity units during a 3-week p... |
2,337,321 | Accuracy of the routine detection of mutation in mismatch repair genes in patients with susceptibility to hereditary upper urinary tract transitional cell carcinoma. | To establish the clinical benefits of systematic testing for hMSH6 and hMLH1 mutations in the very rare patients with upper urinary tract transitional cell carcinomas (UUT-TCCs), a clinical predisposition for hereditary tumour and no mutation detected in hMSH2 gene.</AbstractText>In all, 164 UUT-TCC specimen blocks wer... |
2,337,322 | Hereditary nonpolyposis colorectal cancer identification and surveillance of high-risk families. | Hereditary nonpolyposis colorectal cancer is an autosomal dominant condition caused by highly penetrant gene mutations. It is characterized by increased susceptibility for a specific group of cancer, mainly colorectal cancer. The syndrome originates from the inheritance of mutations in DNA mismatch repair genes. The mo... |
2,337,323 | Whole-proteome prediction of protein function via graph-theoretic analysis of interaction maps. | Determining protein function is one of the most important problems in the post-genomic era. For the typical proteome, there are no functional annotations for one-third or more of its proteins. Recent high-throughput experiments have determined proteome-scale protein physical interaction maps for several organisms. Thes... |
2,337,324 | Ruling in and ruling out: implications of molecular genetic diagnoses for disease classification. | We report on a qualitative analysis of interviews with 14 genetic counsellors in Ontario, Canada about the implications of developments in molecular genetic knowledge for disease definition and classification. Genetic counsellors express a restrained set of hopes and expectations about the utility of genetic diagnoses.... |
2,337,325 | A genetic screen identifies PITX1 as a suppressor of RAS activity and tumorigenicity. | Activating mutations of RAS frequently occur in subsets of human cancers, indicating that RAS activation is important for tumorigenesis. However, a large proportion of these cancers still retain wild-type RAS alleles, suggesting that either the RAS pathway is activated in a distinct manner or another pathway is deregul... |
2,337,326 | A genetic screen for candidate tumor suppressors identifies REST. | Tumorigenesis is a multistep process characterized by a myriad of genetic and epigenetic alterations. Identifying the causal perturbations that confer malignant transformation is a central goal in cancer biology. Here we report an RNAi-based genetic screen for genes that suppress transformation of human mammary epithel... |
2,337,327 | Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. | Pinschers and other dogs with coat color dilution show a characteristic pigmentation phenotype. The fur colors are a lighter shade, e.g. silvery grey (blue) instead of black and a sandy color (Isabella fawn) instead of red or brown. In some dogs the coat color dilution is sometimes accompanied by hair loss and recurren... |
2,337,328 | One of these things is not like the others: the idea of precedence in health technology assessment and coverage decisions. | Health plans often deliberate covering technologies with challenging purposes, effects, or costs. They must integrate quantitative evidence (e.g., how well a technology works) with qualitative, normative assessments (e.g., whether it works well enough for a worthwhile purpose). Arguments from analogy and precedent help... |
2,337,329 | Nursing leadership in genomics for health and society. | This article is part of the series regarding genomics and nursing practice, science, education, and policy. Issues in genetic testing, genetic information and the lessons learned through applications of genetic and genomic science are analyzed and discussed.</AbstractText>Scientists, scholars, and members of the public... |
2,337,330 | Assessment of the use and feasibility of video to supplement the genetic counseling process: a cancer genetic counseling perspective. | Cancer genetic counselors use a variety of teaching modalities for patient education. This survey of cancer genetic counselors assessed their use of educational videos and their recommendations for content of future videos. Thirty percent of respondents use videos for patient education. Cited benefits included reinforc... |
2,337,331 | Negotiating responsibility: case studies of reproductive decision-making and prenatal genetic testing in families facing Huntington disease. | Three case studies are presented to further our understanding of how responsibility is negotiated in families when making decisions about genetic risk. These draw on a model of responsibility generated in a study of reproductive decision-making in families facing Huntington disease (HD) to illustrate the impact of pren... |
2,337,332 | Men's decision-making about predictive BRCA1/2 testing: the role of family. | Men who have a family history of breast and/or ovarian cancer may be offered a predictive genetic test to determine whether or not they carry the family specific BRCA1/2 mutation. Male carriers may be at increased risk of breast and prostate cancers. Relatively little is known about at-risk men's decision-making about ... |
2,337,333 | Racial-ethnic differences in genetic amniocentesis uptake. | The objective of this study was to determine the role of health beliefs in genetic amniocentesis acceptance in a diverse racial-ethnic population. Participants completed a previously-validated questionnaire consisting of three sections: (1) demographics, (2) amniocentesis knowledge, and (3) health beliefs, which assess... |
2,337,334 | Disability rights, prenatal diagnosis and eugenics: a cross-cultural view. | This paper considers the disability rights critique of genetic testing in the context of different communities and the issue of nondirectiveness. Despite the wide usage of genetic diagnosis in Israel, no public debate has emerged there concerning disability rights and prenatal testing. The common attitude that emerged ... |
2,337,335 | Genetic evaluation and counseling of couples with recurrent miscarriage: recommendations of the National Society of Genetic Counselors. | The objective of this document is to provide recommendations for genetic evaluation and counseling of couples with recurrent miscarriage (RM). The recommendations are the opinions of the multidisciplinary Inherited Pregnancy Loss Working Group (IPLWG), with expertise in genetic counseling, medical genetics, maternal fe... |
2,337,336 | Facilitating family communication about predictive genetic testing: probands' perceptions. | The responsibility of informing relatives that predictive genetic testing is available often falls to the proband. Support is required during this process, however the perceived utility of genetic counseling and other strategies to facilitate communication have not been explored. We investigated the experiences of 12 i... |
2,337,337 | Psychodynamic theory and counseling in predictive testing for Huntington's disease. | This paper revisits psychodynamic theory, which can be applied in predictive testing counseling for Huntington's Disease (HD). Psychodynamic theory has developed from the work of Freud and places importance on early parent-child experiences. The nature of these relationships, or attachments are reflected in adult expec... |
2,337,338 | Genotypes at chromosome 22q12-13 are associated with HIV-1-exposed but uninfected status in Italians. | Despite multiple and repeated exposures to HIV-1, some individuals possess no detectable HIV genome and show T-cell memory responses to the viral antigens. HIV-1-reactive mucosal IgA detected in such uninfected individuals suggests their possible immune resistance against HIV. We tested if the above HIV-1-exposed but u... |
2,337,339 | Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferation. | The polycomb transcriptional repressor Bmi1 promotes cell cycle progression, controls cell senescence, and is implicated in brain development. Loss of Bmi1 leads to a decreased brain size and causes progressive ataxia and epilepsy. Recently, Bmi1 was shown to control neural stem cell (NSC) renewal. However, the effect ... |
2,337,340 | Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment? | There is no agreement about the frequency of chromosomal abnormalities (CAs) in the female partner of an infertile couple and therefore there is no evidence base for determining whether karyotype analysis is mandatory before the initiation of infertility treatment. The aim of this prospective study was to estimate the ... |
2,337,341 | Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. | An up-to-date view of the worldwide mitochondrial DNA (mtDNA) phylogeny together with an evaluation of the conservation of each site is a reliable tool for detecting errors in mtDNA studies and assessing the functional importance of alleged pathogenic mutations. However, most of the published studies on mitochondrial d... |
2,337,342 | Feature selection and classification for microarray data analysis: evolutionary methods for identifying predictive genes. | In the clinical context, samples assayed by microarray are often classified by cell line or tumour type and it is of interest to discover a set of genes that can be used as class predictors. The leukemia dataset of Golub et al. 1 and the NCI60 dataset of Ross et al. 2 present multiclass classification problems where th... |
2,337,343 | The search for genenotype/phenotype associations and the phenome scan. | All the approaches to the search for genotype/phenotype associations have their share of problems. Comparing the genome scan and candidate gene approaches, the former makes fewer assumptions at the genetic level or about mechanism but has greater statistical difficulties while the latter partially solves the statistica... |
2,337,344 | Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype. | Alport syndrome (AS) is a genetically heterogeneous renal hereditary disease. Male-to-male transmission has been considered fully indicative of autosomal dominant AS. We report a family with male-to-male transmission of X-linked AS due to an extra X chromosome of paternal origin in the proband. Linkage analysis exclude... |
2,337,345 | Pedigree construction and disease confirmation: a pilot study in Wales exploring the role of nonclinical personnel. | Pedigree construction and disease confirmation are the means by which reported family histories are translated into a verified clinical tool informing risk assessment and management decisions by clinical genetics staff. In this study, we hypothesised that pedigree generation data processes do not generally require the ... |
2,337,346 | COMT polymorphisms and anxiety-related personality traits. | High neuroticism and low extraversion are characteristic of anxiety-prone individuals. A functional variant in the catechol-O-methyltransferase (COMT) gene, the Val158Met ('val/met') polymorphism, has been associated in some prior studies with several phenotypes, including neuroticism. We tested the hypothesis that the... |
2,337,347 | Attenuation of recombinant yellow fever 17D viruses expressing foreign protein epitopes at the surface. | The yellow fever (YF) 17D vaccine is a live attenuated virus. Three-dimensional (3D) homology modeling of the E protein structure from YF 17D virus and its comparison with that from tick-borne encephalitis virus revealed that it is possible to accommodate inserts of different sizes and amino acid compositions in the fl... |
2,337,348 | Transfer and evaluation of an automated, low-cost real-time reverse transcription-PCR test for diagnosis and monitoring of human immunodeficiency virus type 1 infection in a West African resource-limited setting. | There is an urgent need for low-cost human immunodeficiency virus type 1 (HIV-1) viral load (VL) monitoring technologies in resource-limited settings. An automated TaqMan real-time reverse transcription-PCR (RT-PCR) assay was transferred to the laboratory of the Centre de Diagnostic et de Recherches sur le SIDA, Abidja... |
2,337,349 | A haplotype of the CYP27B1 promoter is associated with autoimmune Addison's disease but not with Graves' disease in a UK population. | Previous studies have suggested an association between alleles of the CYP27B1 (1-alpha hydroxylase) gene and autoimmune conditions. We have examined three single nucleotide polymorphisms (SNPs) that are located in the 5' region and promoter of the CYP27B1 gene for association in a cohort of Graves' disease and autoimmu... |
2,337,350 | Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. | The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-... |
2,337,351 | A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. | Presented is a pedigree with infancy-onset benign hereditary chorea (BHC) caused by a novel nonsense mutation in exon 3 (523G-->T, E175X) of the TITF-1 (Nkx2.1) gene. Four confirmed mutation carriers showed the typical movement disorder of BHC and congenital hypothyroidism. Surprisingly, treatment with levodopa impr... |
2,337,352 | Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy. | Dominant mutations in COL6A1, COL6A2, and COL6A3, the three genes encoding collagen type VI, a ubiquitous extracellular matrix protein, are associated with Bethlem myopathy (BM) and Ullrich scleroatonic muscular dystrophy.</AbstractText>The authors devised a method to screen the entire coding sequence of the three gene... |
2,337,353 | Neuropsychological tests accurately predict incident Alzheimer disease after 5 and 10 years. | To determine whether neuropsychological tests accurately predict incident Alzheimer disease (AD) after 5 and 10 years in participants of the Canadian Study of Health and Aging (CSHA) who were initially nondemented.</AbstractText>The CSHA was conducted in three waves: CSHA-1 (1991 to 1992), CSHA-2 (1996 to 1997), and CS... |
2,337,354 | HEGESMA: genome search meta-analysis and heterogeneity testing. | Heterogeneity and genome search meta-analysis (HEGESMA) is a comprehensive software for performing genome scan meta-analysis, a quantitative method to identify genetic regions (bins) with consistently increased linkage score across multiple genome scans, and for testing the heterogeneity of the results of each bin acro... |
2,337,355 | Statistical analysis of antigen receptor spectratype data. | The effectiveness of vertebrate adaptive immunity depends crucially on the establishment and maintenance of extreme diversity in the antigen receptor repertoire. Spectratype analysis is a method used in clinical and basic immunological settings in which antigen receptor length diversity is assessed as a surrogate for f... |
2,337,356 | A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients. | We prospectively screened a hospital-based population of 1000 successive breast cancer patients receiving adjuvant radiotherapy for predictive factors associated with the presence of BRCA1 and BRCA2 mutations. We offered genetic counseling and DNA analysis to selected patients. About 52% of patients showed at least one... |
2,337,357 | Genotype combinations for monoamine oxidase-B intron 13 polymorphism and dopamine D2 receptor TaqIB polymorphism are associated with ever-smoking status among men. | Tobacco smoke inhibits monoamine oxidase-B (MAO-B) activity in vitro and in vivo, suggesting that MAO-B inhibition is a possible contributing factor to tobacco smoke addiction. Thus, MAO-B is a possible candidate gene for predisposition to smoking. The TaqIB polymorphism for the Dopamine D2 Receptor gene (DRD2) has bee... |
2,337,358 | The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. | A common heterozygous leucine-rich repeat kinase 2 (LRRK2) mutation 6055G > A transition (G2019S) accounts for about 3-7% of familial Parkinson's disease (PD) and 1-1.6% sporadic PD in a number of European populations. To determine the prevalence of the G1019S mutation in our Asian population, we conducted genetic a... |
2,337,359 | Testing species boundaries in the Antrodiaetus unicolor complex (Araneae: Mygalomorphae: Antrodiaetidae): "paraphyly" and cryptic diversity. | The inability to correctly identify species has far reaching implications in nearly all areas of biology, yet few studies investigate methods for delineating species boundaries. Moreover, once these boundaries have been hypothesized, little thought has been given to how these constructs can be further evaluated. We emp... |
2,337,360 | 'That's like chopping off a finger because you're afraid it might get broken': disease and illness in women's views of prophylactic mastectomy. | While data are accumulating on the efficacy of prophylactic mastectomy as a means to reduce breast cancer risk in high risk women, the effectiveness of the procedure depends on women's interest in undergoing the procedure. We report on women's responses to this surgical option as a prevention tool. Data derive from a m... |
2,337,361 | Genetic immunisation of cattle against bovine herpesvirus 1: glycoprotein gD confers higher protection than glycoprotein gC or tegument protein VP8. | Bovine herpesvirus 1 (BoHV-1) has frequently been used as a model for testing parameters affecting DNA immunisation in large animals like cattle. However, the selection of target antigens has been poorly studied, and most of the experiments have been conducted in mice. In the present study, we demonstrated in cattle th... |
2,337,362 | Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. | We have designed Multiplex Amplifiable Probe Hybridization (MAPH) probes for 28 exons of the sarcoglycan genes SGCA, SGCB, SGCG, and SGCD. The set was used to screen DNA from limb-girdle muscular dystrophy (LGMD) patients for the presence of pathogenic deletion or duplication mutations. An unexpected heterozygous delet... |
2,337,363 | Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. | This study summarizes 47 novel mutations identified during routine molecular diagnostics for Alport syndrome. We detected 34 in COL4A5, the gene responsible for X-linked Alport syndrome, and 13 in COL4A3 and COL4A4, the genes responsible for autosomal recessive Alport syndrome. A high detection rate of 90% was achieved... |
2,337,364 | Synergistic interaction of heterozygous deletions impairs performance and confers susceptibility to disease at all ages. | Rare recessive conditions are more common in the offspring of cousin unions than in the general population even in communities in which less than 0.5% of all marriages are between first cousins. It is shown that if the human genome has 30,000 genes in the haploid set then (Y+X)6/(Y)5 < 19, where X is the mean number... |
2,337,365 | X-linked cone dysfunction syndrome with myopia and protanopia. | To perform a detailed clinical, psychophysical, and molecular assessment of members of 4 families with an unusual X-linked cone dysfunction syndrome associated with myopia.</AbstractText>Affected and unaffected members of 4 British nonconsanguineous families.</AbstractText>Subjects underwent both detailed clinical exam... |
2,337,366 | Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. | To determine the underlying molecular genetic basis of a retinal dystrophy identified in a 4-generation family and to examine the phenotype and the degree of intrafamilial variability.</AbstractText>Prospective case series.</AbstractText>Six affected individuals from a nonconsanguineous British family.</AbstractText>De... |
2,337,367 | The role of genetic counseling on decisions of pregnant women aged 35 years or over regarding amniocentesis in Turkey. | We investigated the effects of genetic counseling given before amniocentesis that is given based on maternal serum screening (using the cut-off value of 1/250) and genetic sonogram results (+/- abnormal ultrasound marker) on pregnant women who are 35 years and older age. Their attitudes towards amniocentesis after gene... |
2,337,368 | Too much, too soon? Patients and health professionals' views concerning the impact of genetic testing at the time of breast cancer diagnosis in women under the age of 40. | Recent research suggests that women who develop breast cancer between the ages of 30-34 may have specific tumour characteristics: Those with high grade, oestrogen receptor negative, human epidermal growth factor receptor 2 (HER-2) negative tumours have between a 10% and 27% chance of being a BRCA1 gene carrier. Carrier... |
2,337,369 | Genetic polymorphisms of four STR loci on chromosome X and their forensic applications in a Chinese Han population. | To add DXS7133, GATA198A10, DXS9896 and DXS6797 to the panel of forensically validated X chromosome markers, and apply the multiplex amplification system to a population study and forensic analysis on the Hans of Chengdu.</AbstractText>The PCR products were detected by the polyacrylamide gel electrophoresis and silver ... |
2,337,370 | Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia. | To investigate the possible association between ZNF230 gene and azoospermia.</AbstractText>Screening for mutation of all 6 exons of ZNF230 gene was performed by denaturing high performance liquid chromatography(DHPLC) in 99 patients with azoospermia and in 115 healthy men as controls.</AbstractText>An A-->G transiti... |
2,337,371 | Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers. | Despite numerous individual studies of psychological factors (depression, anxiety, distress) related to genetic testing for inherited cancer syndromes (CGT), there has been no systematic review of the psychological factors are measured among individuals at increased risk for hereditary breast, ovarian, or colon cancer.... |
2,337,372 | Informing one's family about genetic testing for hereditary non-polyposis colorectal cancer (HNPCC): a retrospective exploratory study. | The family-link approach of case finding is considered the fastest and most efficient approach to trace people with hereditary disease. Therefore, there is a need to understand if, why, and how people with hereditary non-polyposis colorectal cancer (HNPCC) inform their biological family.</AbstractText>To explore people... |
2,337,373 | Referrals of patients to colorectal cancer genetics services in south-east Scotland. | The discovery that genetic factors are involved in the aetiology of colorectal cancer, has prompted many relatives of affected individuals to seek genetic counselling and screening. This paper describes the demand for genetic services by families with colorectal cancer in south-east Scotland, their expectations and vie... |
2,337,374 | Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH. | Exonic deletions in MSH2 and MLH1 are significant contributors to the mutation spectrum in HNPCC, and heterozygous changes in exon copy number are not detected by conventional mutation screening methods.</AbstractText>We aimed to develop methods for screening copy number changes in all the exons of the MLH1 and MSH2 ge... |
2,337,375 | A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history. | Adenomatous polyposis of the colon is often secondary to an inherited mutation in adenomatous polyposis coli (APC) gene, however, approximately one third of patients have no family history of the disease. We studied the phenotype and genotype of adenomatous polyposis in patients without a family history.</AbstractText>... |
2,337,376 | Psychological distress in women at risk of hereditary breast/ovarian or HNPCC cancers in the absence of demonstrated mutations. | To examine psychological distress in women at risk of familial breast-ovarian cancer (FBOC) or hereditary non-polyposis colorectal cancer (HNPCC) with absence of demonstrated mutations in the family (unknown mutation).</AbstractText>Two-hundred and fifty three consecutive women at risk of FBOC and 77 at risk of HNPCC a... |
2,337,377 | Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients. | Carriers of a hereditary mutation in BRCA are at high risk for breast and ovarian cancer. The first person from a family known to carry the mutation, the index person, has to share genetic information with relatives. This study is aimed at determining the number of relatives tested for a BRCA mutation, and the explorat... |
2,337,378 | A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques. | Dominant inheritance is presumed in 6-10% of breast and ovarian cancers. Mutations in BRCA1 and BRCA2 genes are the most commonly identified causative genes in such families. The frequency of mutation carriers with breast/ovarian cancer depends on the population studied, and display considerable variation that coincide... |
2,337,379 | The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews. | The Tyr978X BRCA1 mutation is a founder mutation detected in high-risk Iraqi-Iranian Jewish families as well as in the general non-Ashkenazi population. The same mutation was also reported in non-Jewish high-risk women from Canada. Its occurrence in non-Jewish individuals from Iran has never been tested.</AbstractText>... |
2,337,380 | Ratio of male to female births in the offspring of BRCA1 and BRCA2 carriers. | A recent report based on 68 families, including 17 with mutations in BRCA1, suggested that there was an excess of female offspring born to BRCA1 mutation carriers. We have examined the gender ratio among offspring of 511 mutation carriers from 116 BRCA1 families, 77 and 39 from Australia and the United States, respecti... |
2,337,381 | Genetic screening of familial Mediterranean fever mutations in the Palestinian population. | To investigate the spectrum of mutations and genotypes in the pyrin gene in familial Mediterranean fever (FMF) patients.</AbstractText>Blood samples of 511 suspected FMF patients, received from the Molecular Genetics Laboratory, Makassed Islamic Charitable Hospital, Mount Olives, Jerusalem during the period from June 1... |
2,337,382 | The art and design of genetic screens: mouse. | Humans are mammals, not bacteria or plants, yeast or nematodes, insects or fish. Mice are also mammals, but unlike gorilla and goat, fox and ferret, giraffe and jackal, they are suited perfectly to the laboratory environment and genetic experimentation. In this review, we will summarize the tools, tricks and techniques... |
2,337,383 | Genome-wide search for sarcoidosis susceptibility genes in African Americans. | Sarcoidosis, a systemic granulomatous disease of unknown etiology, likely results from an environmental insult in a genetically susceptible host. In the US, African Americans are more commonly affected with sarcoidosis and suffer greater morbidity than Caucasians. We searched for sarcoidosis susceptibility loci by cond... |
2,337,384 | Spinocerebellar ataxia type 6. | We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the... |
2,337,385 | Identification of expandable human hepatic progenitors which differentiate into mature hepatic cells in vivo. | Liver diseases include a wide spectrum of both acute and chronic conditions which are associated with significant morbidity and mortality worldwide. Hepatocyte transplantation has therapeutic potential in the treatment of liver diseases, but its clinical use is hampered by the lack of donor tissue. Generation of hepato... |
2,337,386 | Possible association of p53 codon 72 polymorphism with susceptibility to adult and pediatric high-grade astrocytomas. | Polymorphisms in codon 72 of the p53 tumor suppressor gene have been associated with susceptibility to human cancer. We wished to evaluate whether variant allelic forms of the p53 protein were associated with brain tumors. In this study, we scored 135 brain tumor samples (92 adult and 43 pediatric cases consisting of 6... |
2,337,387 | Use of lyophilized standards for the calibration of a newly developed real time PCR assay for human herpes type six (HHV6) variants A and B. | A quantitative real time PCR assay utilizing an Eclipse minor groove binding hybridization probe was developed to detect and type human herpes 6. A 115 base pair product from the U67 gene was selected for amplification and the assay included a noncompetitive internal control. The probe's melting temperature from the am... |
2,337,388 | [Rapid detection of rifampin resistance of Mycobacterium tuberculosis using high-throughput pyrosequencing technique]. | To develop a pyrosequencing approach to rapid detection of rifampin resistance in Mycobacterium tuberculosis based on characterization of all possible mutations in the 81 bp core region.</AbstractText>Two pyrosequencing sequencing primers and 1 pair of PCR primers were chosen for pyrosequencing analysis. The sensitivit... |
2,337,389 | Antenatal thalassaemia carrier testing: women's perceptions of "information" and "consent". | To explore the attitudes of a sample of pregnant women in the UK towards informed consent for antenatal thalassaemia carrier testing and perceived pre-test information needs for such testing.</AbstractText>The study was conducted in two cities in the North of England, where participants were recruited via Midwifery and... |
2,337,390 | Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. | Ichthyosis bullosa of Siemens (IBS, MIM 146800) is a unique congenital ichthyosis characterized by mild epidermal hyperkeratosis over flexural areas, blister formation and the development of superficially denuded areas of hyperkeratotic skin. It is clinically difficult to distinguish severe IBS from mild bullous congen... |
2,337,391 | Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. | We have tested 144 unrelated Jewish patients suffering from the classical form of cystic fibrosis. The patients were screened for a panel of 12 mutations including the six Ashkenazi founder mutations (DeltaF508, W1282X, N1303K, G542X, 3849 + 10 kb C-->T, 1717-1G > A) and six mutations that were found in non-Ashke... |
2,337,392 | Screening and preventive behaviors one year after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma. | Prevention benefits from predictive genetic testing for cancer will only be fully realized if appropriate screening is adopted after testing. The current study assessed screening and preventive behaviors during 12 months after predictive genetic testing for hereditary nonpolyposis colorectal carcinoma (HNPCC) in an Aus... |
2,337,393 | Hereditary colorectal cancer syndromes. | The purpose of this article is to review the genetic colorectal cancer syndromes including Hereditary Nonpolyposis Colorectal Cancer (HNPCC), Family Polyposis (FAP) and the hamartomatous polyposis syndromes. HNPCC is the most common of the hereditary colorectal cancer syndromes, and is the result of defects in the mism... |
2,337,394 | Serum hepatitis B virus DNA levels differentiating inactive carriers from patients with chronic hepatitis B. | We compared serum hepatitis B virus (HBV)-DNA levels in different states of hepatitis B infection, and investigated whether there is an HBV-DNA value that can be used for differentiating inactive carriers from patients with hepatitis B e antigen (HBeAg)-negative chronic hepatitis.</AbstractText>A retrospective study us... |
2,337,395 | The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group. | The recent identification of fragile X-associated tremor ataxia syndrome (FXTAS) associated with premutations in the FMR1 gene and the possibility of clinical overlap with multiple system atrophy (MSA) has raised important questions, such as whether genetic testing for FXTAS should be performed routinely in MSA and whe... |
2,337,396 | Investigating responders to lithium prophylaxis as a strategy for mapping susceptibility genes for bipolar disorder. | Attempts to map susceptibility genes for bipolar disorder have been complicated by genetic complexity of the illness and, above all by heterogeneity. This paper reviews the genetic research of bipolar disorder aiming to reduce the heterogeneity by focusing on definite responders to long-term lithium treatment. The avai... |
2,337,397 | Beyond the HLA typing age: genetic polymorphisms predicting transplant outcome. | Although histocompatibility testing and matching for histocompatibility leukocyte antigens (HLA) remains the "state of the art" for determining donor selection, non-HLA encoded genes such as those for minor histocompatibiity antigens also play an important role in determining haematopoietic stem cell transplantation (H... |
2,337,398 | [The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation]. | Hereditary nonpolyposis colorectal cancer is an inherited disease characterized by onset at an early age, an excess of synchronous and metachronous large bowel tumors and a variety of extracolorectal malignancies. Basal and squamous cell carcinomas of the skin are not customarily included in the tumor spectrum of the s... |
2,337,399 | Adding confidence to gene expression clustering. | It has been well established that gene expression data contain large amounts of random variation that affects both the analysis and the results of microarray experiments. Typically, microarray data are either tested for differential expression between conditions or grouped on the basis of profiles that are assessed tem... |
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