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2,339,200 | Rapid combined genotyping assay for four achondroplasia and hypochondroplasia mutations by real-time PCR with multiple detection probes. | Achondroplasia (ACH) and hypochondroplasia (HYCH) are the most prevalent genetic short-stature syndromes. Whereas the diagnosis of ACH can be established on clinical and radiologic grounds alone in the majority of cases, HYCH is more difficult to confirm. Molecular genetic analysis of both skeletal dysplasias can be es... |
2,339,201 | GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. | Thirty-two genes causing non-syndromic hearing impairment (NSHI) have been cloned, including GJB2 and GJB6 encoding the gap junction subunits connexin 26 and connexin 30, respectively. One mutation in GJB2, 35delG, accounts for a large percentage of GJB2 hearing impairment in Southern Europe whereas a considerably lowe... |
2,339,202 | Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy. | Previous reports have found that non-Jewish Americans with ancestry from Ireland have an increased frequency of heterozygosity for Tay-Sachs disease (TSD), although frequency estimates are substantially different. Our goal in this study was to determine the frequency of heterozygosity for TSD and Sandhoff diseases (SD)... |
2,339,203 | Attitude toward genetic testing for cancer risk in Istanbul. | To identify attitudes toward genetic testing, and the effects of this information on decisions regarding issues such as pregnancy, abortion, and prophylactic surgery, several subsets of the Turkish population were surveyed in hospital settings. Individuals (n = 179) chosen arbitrarily from four different subsets of a T... |
2,339,204 | Description of the first two seemingly unrelated Greek Cypriot families with a common C618R RET proto-oncogene mutation. | Germ-line mutations of the RET proto-oncogene cause three different cancer syndromes: multiple endocrine neoplasia type 2A (MEN2A), multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma (FMTC). The objective of the present study was the clinical and molecular characterization of the first two G... |
2,339,205 | Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India. | The aim of this work was to study the mutation profile in hMSH2 and hMLH1 genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients in India. On the basis of the Bethesda criteria, 31 colorectal cancer patients were studied first for microsatellite instability, using the five markers recommended by the Bethes... |
2,339,206 | High-risk premenopausal women's experiences of undergoing prophylactic oophorectomy: a descriptive study. | Women who are at increased risk of developing ovarian cancer because of their family history may need to make decisions about the medical management of their cancer risk--whether to have ovarian screening or undergo prophylactic surgery. This qualitative study explores the perceived physical and emotional implications ... |
2,339,207 | Subjective and objective risk of breast cancer in Ashkenazi Jewish individuals at risk for BRCA1/2 mutations. | The aims of the study were to (1) examine the differences between subjective and objective estimates of the risk of breast cancer in those being tested for BRCA1/2 mutations, (2) explore new ways to conceptualize risk, and (3) examine the change in subjective risk of developing breast cancer throughout the process of g... |
2,339,208 | Characterization of two novel BRCA1 germ-line mutations involving splice donor sites. | Deleterious BRCA1 mutations have significant clinical implications for the patients that carry them. Point mutations in critical functional domains and frameshift mutations that lead to early termination of protein translation are associated with a 60-80% risk of breast cancer and a 20-40% risk of ovarian cancer. In co... |
2,339,209 | BRCA1 mutations in a population-based study of breast cancer in Stockholm County. | The mutation frequency of BRCA1 and BRCA2 in women with breast cancer varies according to family history, age at diagnosis and ethnicity. The contribution of BRCA1 and BRCA2 mutations in breast cancer populations, unselected for age and family history, has been examined in several studies reporting mutation frequencies... |
2,339,210 | Prevalence of major depression one year after predictive testing for Huntington's disease. | Psychiatric hospitalizations, completed suicides, and suicide attempts are rare after predictive testing for Huntington's disease (HD). Case studies have shown that major depression can be a consequence of being tested, although no studies have shown how common this is. The present study evaluated the prevalence of maj... |
2,339,211 | Informing carriers of beta-thalassemia: giving the good news. | This study explored the value of informing beta-thalassaemia carriers of the advantages, as well as the disadvantages of carrier status. Twenty-eight carriers of beta-thalassaemia were interviewed immediately after counselling, and again 2 weeks later. Both interviews included administration of a psychological scale (p... |
2,339,212 | Rapid detection of common southeast Asian beta-thalassemia mutations by nonisotopic multiplex PCR-SSCP analysis. | This report describes the detection of seven beta-thalassemia mutations common in Southeast Asia by amplifying three short PCR fragments in two separate tubes, followed by single-strand conformation polymorphism (SSCP) analysis in single lanes. These mutations are -28 A --> G, codon 17 A --> T, IVS1 + 5 G --> ... |
2,339,213 | Hereditary hemochromatosis genetic testing of at-risk children: what is the appropriate age? | The objective of this study was to consider the objective evidence and ethical arguments for the appropriate age to test children at risk of developing hereditary hemochromatosis. A literature search for information on iron overload in children, onset of disease expression for hemochromatosis, and recommendations for a... |
2,339,214 | Attitudes about and psychosocial outcomes of HFE genotyping for hemochromatosis. | We examined attitudes regarding genetic testing and psychosocial outcomes of HFE genotyping for hemochromatosis. A total of 87 persons with hemochromatosis (patients) (39 women, 48 men), who underwent HFE genotyping, and 50 persons with hypertension (controls) (22 women, 28 men), who had not undergone HFE genotyping, c... |
2,339,215 | Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population. | The aim of this study was to assess the attitudes and intentions of individuals planning a pregnancy with regard to preconceptional cystic fibrosis (CF) carrier screening and to determine factors associated with a positive and negative/neutral intention to have the test. A survey, based on a questionnaire, was conducte... |
2,339,216 | Breast Cancer in Canadian Women. | HEALTH ISSUE: Although lung cancer is the leading cause of cancer deaths for Canadian women, breast cancer is the most frequently diagnosed. About 5400 women are expected to die from this disease in 2003. In 1998, a woman's lifetime risk of breast cancer was about one in nine. KEY FINDINGS: A number of risk factors for... |
2,339,217 | State-dependency in C. elegans. | Memory and the expression of learned behaviors by an organism are often triggered by contextual cues that resemble those that were present when the initial learning occurred. In state-dependent learning, the cue eliciting a learned behavior is a neuroactive drug; behaviors initially learned during exposure to centrally... |
2,339,218 | Prenatal diagnosis in Li-Fraumeni syndrome. | The hallmark of Li-Fraumeni syndrome (LFS), a familial cancer syndrome, is constitutional TP53 mutation. The authors addressed the complex question of predictive prenatal genetic testing for cancer risk associated with inheritance of TP53 mutation.</AbstractText>A classic LFS family including the proband (a 20-month-ol... |
2,339,219 | Exposure of hematopoietic stem cells to benzene or 1,4-benzoquinone induces gender-specific gene expression. | Chronic exposure to benzene results in progressive decline of hematopoietic function and may lead to the onset of various disorders, including aplastic anemia, myelodysplastic syndrome, and leukemia. Damage to macromolecules resulting from benzene metabolites and misrepair of DNA lesions may lead to changes in hematopo... |
2,339,220 | Prenatal screening and diagnosis for pediatricians. | The pediatrician who cares for a child with a birth defect or genetic disorder may be in the best position to alert the family to the possibility of a recurrence of the same or similar problems in future offspring. The family may wish to know about and may benefit from methods that convert probability statements about ... |
2,339,221 | BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. | According to the international criteria for hereditary non-polyposis colorectal cancer (HNPCC) diagnostics, cancer patients with a family history or early onset of colorectal tumours showing high microsatellite instability (MSI-H) should receive genetic counselling and be offered testing for germline mutations in DNA r... |
2,339,222 | CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. | Primary open-angle glaucoma (POAG) is a leading cause of visual impairment worldwide and a complex genetic disorder that affects mostly adults. Mutations in the MYOCILIN (MYOC) and OPTINEURIN genes account for rare forms with a Mendelian inheritance and for <5% of all POAG cases. The CYP1B1 gene, a member of the cyt... |
2,339,223 | BRCAPAP: feasibility of clinical BRCA testing on liquid-based cervical cytology: implications for biomarker development. | The study was designed to test the feasibility that lower genital tract cytology is a compatible medium for robust germ line genetic analyses.</AbstractText>BRCA1 and/or BRCA2 gene mutational analysis was done on DNA isolated from liquid-based cervical or vaginal cytology taken from 17 consenting women (age 29-65 years... |
2,339,224 | Glutathione S-transferases M1, T1, and P1 and breast cancer: a pooled analysis. | The glutathione S-transferase (GST) genes are involved in the metabolism of various carcinogens. Deletion polymorphisms in the genes GSTM1 and GSTT1 and a base transition polymorphism at codon 105 (Ile-->Val) in GSTP1 were investigated in relation to breast cancer risk. Tobacco smoking and reproductive factors were ... |
2,339,225 | Associations between two common variants C677T and A1298C in the methylenetetrahydrofolate reductase gene and measures of folate metabolism and DNA stability (strand breaks, misincorporated uracil, and DNA methylation status) in human lymphocytes in vivo. | Homozygosity for variants of the methylenetetrahydrofolate reductase (MTHFR) gene is associated with decreased risk for colorectal cancer. We have investigated the relationships between two variants of the MTHFR gene (C677T and A1298C) and blood folate, homocysteine, and genomic stability (strand breakage, misincorpora... |
2,339,226 | Strategies for prevention of colorectal cancer: pharmaceutical and nutritional interventions. | Interventions designed to delay or prevent the development of invasive colorectal adenocarcinoma might result in a profound impact on the incidence of and mortality from colorectal cancer. Current developmental efforts focus in two major directions: identification and testing of combination-targeted signal transduction... |
2,339,227 | [Hereditary blistering disorders]. | Epidermolysis bullosa (EB) is a group of genetic skin disorders whose common feature is the formation of blisters following minor trauma. They present with a wide clinical spectrum of manifestations because of a variety of molecular defects. In patients with mild phenotypes, only skin is affected. The most severe EB fo... |
2,339,228 | [Inherited metabolic disorders with cutaneous manifestations]. | Over the last years, the genetic basis of several monogenic inherited metabolic diseases has been elucidated. Interestingly, some of these disorders manifest with characteristic cutaneous symptoms that are often crucial for diagnosis. In most cases, however, besides the skin other organs are affected. Therefore, an int... |
2,339,229 | [Antigenic and genetic characterizations of group A influenza viruses H3N2 circulated in men in China during 2000-2002]. | To understand the antigenic and genetic characteristics of influenza A H3N2 viruses circulated in man in China from 2000 to 2002.</AbstractText>Embryonated chicken eggs inoculated with virus for amplification of viral yield. The harvesting egg allantoic fluids with influenza viruses were provided for testing antigen an... |
2,339,230 | [Construction of replication-deficient recombinant adenovirus expressing gag-polDelta and gp140TM genes of human immunodeficiency virus in mice]. | Construction of replication-deficient recombinant adenovirus expressing gag-pol and env genes of human immunodeficiency virus (HIV) in mice.</AbstractText>gag-polDelta and gp140TM genes were cloned into shuttle vector pAdTrack-CMV respectively, and then the plasmids containing gag-polDelta or gp140TM gene were cotransf... |
2,339,231 | [Construction and immune potency of recombinant adenovirus containing codon-modified HIV-1 gp120]. | To construct replication-deficient recombinant adenovirus expressing wild and codon-modified HIV-1 gp120.</AbstractText>The viral codons were changed to the codon usage of highly expressed mammal gene, the resulting modified gp120 gene was synthesized. The wild and modified gp120 genes were cloned into shuttle vector p... |
2,339,232 | Monitoring and modeling horizontal gene transfer. | Monitoring efforts have failed to identify horizontal gene transfer (HGT) events occurring from transgenic plants into bacterial communities in soil or intestinal environments. The lack of such observations is frequently cited in biosafety literature and by regulatory risk assessment. Our analysis of the sensitivity of... |
2,339,233 | Problems in monitoring horizontal gene transfer in field trials of transgenic plants. | Transgenic crops are approved for release in some countries, while many more countries are wrestling with the issue of how to conduct risk assessments. Controls on field trials often include monitoring of horizontal gene transfer (HGT) from crops to surrounding soil microorganisms. Our analysis of antibiotic-resistant ... |
2,339,234 | Combining the transmission disequilibrium test and case-control methodology using generalized logistic regression. | To study the role of genetic factors in the etiology, susceptibility, or severity of disease, several methods are available. In a transmission disequilibrium test, genotypes of cases are compared to those of their parents to explore whether a specific allele, or marker, at a locus of interest appears to be transmitted ... |
2,339,235 | Haplotypic association spanning the 22q11.21 genes COMT and ARVCF with schizophrenia. | Catechol-O-methyltransferase (COMT) has been implicated in schizophrenia by its function through its roles in monoamine neurotransmitter metabolism and its impact on prefrontal cognition, and also by its position through linkage scans and a strong cytogenetic association. Further support comes from association studies,... |
2,339,236 | Tumor necrosis factor promoter haplotype associated with schizophrenia reveals a linked locus on 1q44. | Using restriction fragment length polymorphism and pyrosequencing methods, we genotyped two TNFA gene promoter SNPs (-G308A, -G238A) and analyzed the haplotype structure in 24 Canadian families of primarily Celtic origin. Our results demonstrate that after correction for multiple testing based on simulations of 10 000 ... |
2,339,237 | Impact of a cancer registry-based genealogy service to support clinical genetics services. | In collaboration with the network of genetics clinics in Scotland, a brief questionnaire was designed to gather data prospectively about the impact of information arising from pedigree research provided by Scottish Cancer Registry personnel. Pedigree research in Scotland is facilitated by access to public records of bi... |
2,339,238 | Correlations between phenotype and microsatellite instability in HNPCC: implications for genetic testing. | Hereditary nonpolyposis colorectal cancer (HNPCC) is widely considered to be a syndrome of defective mismatch repair (MMR). A major concern with genetic diagnosis of HNPCC is the variable, often low, percentage of pathogenic germline mutations that can be detected in MMR genes using common screening methods. The variab... |
2,339,239 | Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up. | A prospective study of psychosocial consequences following predictive testing for inherited mutations in breast/ovarian and colon cancer susceptibility genes BRCA1, BRCA2, MLH1, and MSH2 was performed. Eighty-seven healthy women were tested for known family mutations and self-assessment scales were used to evaluate anx... |
2,339,240 | Proendocrine genes coordinate the pancreatic islet differentiation program in vitro. | In the developing pancreas, the basic helix-loop-helix (bHLH) protein Neurogenin3 (Ngn3) specifies which precursor cells ultimately will become endocrine cells and initiates the islet differentiation program. NeuroD1, a closely related bHLH protein and a downstream target of Ngn3, maintains the differentiation program ... |
2,339,241 | Tests for establishing compatibility of an observed genotype distribution with Hardy-Weinberg equilibrium in the case of a biallelic locus. | The classical chi(2)-procedure for the assessment of genetic equilibrium is tailored for establishing lack rather than goodness of fit of an observed genotype distribution to a model satisfying the Hardy-Weinberg law, and the same is true for the exact competitors to the large-sample procedure, which have been proposed... |
2,339,242 | Components of feed efficiency in broiler breeding stock: influence of water intake and gastrointestinal contents. | An experiment was conducted with 3 lines of broilers to evaluate the potential roles of water intake and fill of the gastrointestinal (GI) tract on feed conversion ratio (FCR) as measured in a 1-wk FCR test. Birds were reared to juvenile selection age (41 d) and subsequently selected, with the best 18 to 29% of male ch... |
2,339,243 | Phenotypic and genotypic characterization of invasive Streptococcus pneumoniae clinical isolates. | The emergence of infection caused by invasive penicillinnonsusceptible (PNS) and multidrug-resistant strains of Streptococcus pneumoniae has become a worldwide concern, necessitating the epidemiologic surveillance of such strains.</AbstractText>One aim of this study was to identify clones of invasive PNS S pneumoniae a... |
2,339,244 | Interleukin-1 gene cluster polymorphisms and risk of Alzheimer's disease in Chinese Han population. | Interleukin-1 (IL-1) has been implicated as a key cytokine in Alzheimer's disease (AD) pathogenesis. IL-1 gene polymorphisms, especially IL-1A C((-)889)T polymorphism, have been suggested to be associated with AD risk and onset age. To determine if IL-1 polymorphisms are genetic risk factors for developing AD in Chines... |
2,339,245 | Mitochondrial genotype and risk for Alzheimer's disease: cross-sectional data from the Vienna-Transdanube-Aging "VITA" study. | The Vienna Transdanube Aging (VITA) study searches for early markers of Alzheimer's disease (AD) by examining the mental status in a community-based cohort of 606, 75-years old volunteers that are then related to various clinical and genetic analyses. To determine whether mutations in mtDNA are involved in expression o... |
2,339,246 | Identification of a 98-kb DNA segment containing the rice Eui gene controlling uppermost internode elongation, and construction of a TAC transgene sublibrary. | The recessive 'tall rice' phenotype associated with the mutation eui (elongated upper-most internode) is an important agronomic trait that has been introduced into hybrid rice to eliminate panicle enclosure in all types of male-sterile lines and produce good-quality seeds in high yield and at low cost. Based on our pre... |
2,339,247 | Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing. | Primary open angle glaucoma (POAG) affects 1% of people over age 40. Early detection and treatment can prevent blindness, but the disease is often asymptomatic until a late stage. Positive family history is an important risk factor and previous studies indicate that approximately 5% of POAG results from mutations in th... |
2,339,248 | Genetic disorders and the optic nerve: a clinical survey. | Genetic disorders can cause a broad range of optic nerve pathology. Clinical symptoms and examination findings of optic nerve dysfunction may provide early clues to the presence of inherited genetic disease. For many disorders, molecular genetic testing is available for the diagnosis of affected individuals and the ide... |
2,339,249 | Deflazacort in Duchenne muscular dystrophy: a comparison of two different protocols. | We compare the long-term benefits and side effects of deflazacort using two treatment protocols from Naples (N) and Toronto (T). Boys with Duchenne muscular dystrophy between the ages of 8 and 15 years and who had four or more years of deflazacort treatment were reviewed. Diagnostic criteria included males with proxima... |
2,339,250 | Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). | Nemaline myopathy has been associated with mutations in five different genes, which all encode protein components of the sarcomeric thin filaments. We report follow-up studies in two children with mutations not previously described in skeletal muscle alpha-actin (ACTA1). Case 1 was a male patient who after birth suffer... |
2,339,251 | Rapid assessment of anti-HIV siRNA efficacy using PCR-derived Pol III shRNA cassettes. | Identification of sequences within a target mRNA that are susceptible to potent siRNA knockdown often requires testing several independent siRNAs or shRNA expression cassettes. Using RNAi against HIV RNAs is further complicated by the length of the viral genome, the complexity of splicing patterns, and the propensity f... |
2,339,252 | Frontotemporal dementia: genetics and genetic counseling dilemmas. | Frontotemporal dementia (FTD) is a neurodegenerative disease with early symptoms of personality change and/or language disorder. Approximately 40% of individuals with FTD have a family history of dementia; however, in our experience, less than 10% have clear autosomal dominant inheritance. Mutations in the microtubule-... |
2,339,253 | Iconix Pharmaceuticals, Inc.--removing barriers to efficient drug discovery through chemogenomics. | Iconix Pharmaceuticals, Inc. is pioneering the new field of chemogenomics--the integration of chemistry and genomics to profile, optimize and monitor clinical candidates and drug treatment. Iconix's chemogenomic capabilities enable pharmaceutical companies to increase the odds of advancing the right compounds to the cl... |
2,339,254 | Toward individualized pharmaceutical care of East Asians: the value of genetic testing for polymorphisms in drug-metabolizing genes. | Research into the relationship between genetics and drug response has focused on polymorphisms in genes that encode drug-metabolizing enzymes, particularly the genes of cytochrome P450 superfamily 2, which affect the clearance of the anticoagulant warfarin, proton pump inhibitors, tricyclic antidepressants, and many ot... |
2,339,255 | Pharmacogenetics of antiretroviral therapy: genetic variation of response and toxicity. | The application of a pharmacogenetic approach to antiretroviral drug therapy represents a significant challenge, as treatment involves multiple drugs and drug classes with the potential for significant variability in drug-host, as well as drug-drug, interactions. However, despite this inherent complexity, considerable ... |
2,339,256 | A step-wise diagnosis of fragile X syndrome in Taiwan. | Fragile X syndrome (FXS), an X-linked dominant disorder, is one of the common forms of inherited mental retardation. This project aimed at identifying fragile X syndrome patients in schools by a two-step diagnosis with questionnaire and photography followed by molecular analysis. A total of 734 children with mental ret... |
2,339,257 | Hybrid pancreatic tissue substitute consisting of recombinant insulin-secreting cells and glucose-responsive material. | Insulin-dependent diabetes is a serious pathological condition, currently treated by blood glucose monitoring and daily insulin injections, which, however, do not prevent long-term complications. A tissue-engineered pancreatic substitute has the potential to provide a more physiologic, less invasive, and potentially le... |
2,339,258 | Ethics of PGD: thoughts on the consequences of typing HLA in embryos. | As with so many fields of study associated with assisted human reproduction, many ethical issues are raised by the practice of preimplantation diagnosis of inherited disease (PGD). Some are part and parcel of assisted conception, e.g.the rights of human embryos in vitro and of embryologists to establish them, carry out... |
2,339,259 | Preimplantation genetic diagnosis with HLA matching. | Preimplantation genetic diagnosis (PGD) has recently been offered in combination with HLA typing, which allowed a successful haematopoietic reconstitution in affected siblings with Fanconi anaemia by transplantation of stem cells obtained from the HLA-matched offspring resulting from PGD. This study presents the result... |
2,339,260 | Design and bioproduction of a recombinant multi(bio)functional elastin-like protein polymer containing cell adhesion sequences for tissue engineering purposes. | Genetic engineering techniques were used to design and biosynthesise an extracellular matrix (ECM) analogue. This was designed with a well-defined molecular architecture comprising different functional domains. The structural base is a elastin-derived repeating unit, which confers an adequate elastic characteristic. So... |
2,339,261 | Women's experiences of undergoing BRCA1 and BRCA2 testing: organisation of the German Hereditary Breast and Ovarian Cancer Consortium Survey and Preliminary Data from Münster. | In order to promote safe and effective testing for BRCA1 and BRCA2 mutations in clinical practice, a network of expert centres in hereditary breast and ovarian cancer ('Verbundprojekt familiärer Brust- und Eierstockkrebs'; German Consortium on Hereditary Breast and Ovarian Cancer) has been established by the Deuts... |
2,339,262 | BRCA1/2 mutation carriers: living with susceptibility. | To examine whether being a BRCA1/2 mutation carrier affects a wide array of aspects of life, and if so, how.</AbstractText>Participants were grouped according to their carrier status (carrier and noncarrier status), health status (affected or unaffected by cancer), and their enrollment at the counseling service (proban... |
2,339,263 | Information-seeking behaviour and psycho-social interactions during the genetic testing process. | The first aim of this study was to investigate the information-seeking behaviour (ISB) of women attending cancer genetic consultations at which the possibility of BRCA testing is considered. We focused here specifically on ISB apart from the cancer genetic consultation, i.e. on what complementary sources of information... |
2,339,264 | The reactions of general practitioners, nurses and midwives in Flanders concerning breast cancer risks in a high-risk situation. | To investigate the reactions of general practitioners (GPs), nurses and midwives concerning the cancer risks in a high-risk family.</AbstractText>Questionnaires were sent to 356 GPs, 881 nurses and 119 midwives.</AbstractText>The response rate was 60% for GPs, 58% for midwives and 33% for nurses. The breast cancer risk... |
2,339,265 | Cancer genetics service provision: a comparison of seven European centres. | To conduct a survey in seven European cancer genetics centres to compare service provision, organisation and practices for familial breast and colon cancer consultations and testing. Information was obtained on aspects of services both nationally and locally.</AbstractText>A detailed survey questionnaire was adapted co... |
2,339,266 | The evolving role of genomics in shaping care for persons with dementia. | Alzheimer's disease and other chronic dementing conditions remain formidable challenges for individuals, their families, and health care providers. In addition to the challenges inherent in the sheer numbers affected, the complex and relatively unpredictable progression of these disorders complicates the delivery of in... |
2,339,267 | Genetics for targeting disease prevention: diabetes. | This article provides an overview of current thinking regarding genetics and diabetes (type 1, type 2, and gestational diabetes mellitus),including a selective look at a few implicated gene variants. This article explores how this information might be applied in current and future clinical practice to (1) predict who i... |
2,339,268 | Cancer genetics in primary care. | The cloning of two major breast cancer susceptibility genes, BRCA1 and BRCA2, in 1994 and 1995 and the subsequent development of commercial genetic testing has brought hereditary cancer genetics into the public eye. In addition to DNA-based genetic testing, new strategies and treatments have been developed to provide a... |
2,339,269 | The primary care physician's approach to congenital anomalies. | Children with congenital anomalies often represent a special diagnostic and management challenge. To provide optimal care for these children, one must employ a systematic approach to identify the likely pathogenic mechanism leading to the birth defects present. Determining how distinct anomalies relate to one another m... |
2,339,270 | What's new in prenatal screening and diagnosis? | This article provides clinicians with an overview of current methods for prenatal genetic screening and diagnosis. Topics include developments in prenatal screening procedures such as ethnicity-based carrier testing, maternal serum screening, and ultrasonography. Diagnostic alternatives to amniocentesis include chorion... |
2,339,271 | Legacy of the American eugenics movement: implications for primary care. | One hundred years ago the first "genetic revolution" promised a boon to society through the rational application of scientific knowledge about heredity. Leading American physicians, psychologists,social workers, scientists, educators, and philanthropists advocated a eugenics agenda that called for the elimination of th... |
2,339,272 | Genetic counseling in primary care: longitudinal, psychosocial issues in genetic diagnosis and counseling. | Primary care clinicians have an essential role in genetic counseling.This role is distinct from the usual role of genetic counselors. First,primary care clinicans are often involved in the early stages of identifying who may benefit from genetic assessment, helping patients to decide when it is appropriate to pursue ge... |
2,339,273 | The family medical history. | In this era of genomic medicine it is easy to be dazzled by an array of diagnostic tools to aid in clinical diagnosis and presymptomatic risk assessment, yet a simple family medical history remains the single most cost-effective "genetic test." A family medical history can be compared with a genetic "biopsy." Learning ... |
2,339,274 | Management of Portuguese patients with hyperplastic polyposis and screening of at-risk first-degree relatives: a contribution for future guidelines based on a clinical study. | Hyperplastic polyposis (HP) is a rare condition characterized by the presence of multiple hyperplastic polyps in the colon, which has been associated to an increased risk of colorectal cancer (CRC). Guidelines for management of this disease remain, so far, undefined.</AbstractText>To evaluate, in symptomatic patients w... |
2,339,275 | Testing for HER2 in breast cancer. | HER2 is a paradigm of a molecular target whose appropriate assessment is pivotal in the targeting of novel therapies for breast cancer, notably including Herceptin/Trastuzumab. Determining the correct levels requires immunohistochemical and molecular biological skills that are reproducible and measurable, coupled with ... |
2,339,276 | Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene. | Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase (PAH) system. Our work aimed to screen the PAH locus for the presence of potentially useful short tandem repeats (STR) as markers for carrier detection in PKU families in Egypt, and to determine the level... |
2,339,277 | Red cell glucose-6-phosphate dehydrogenase phenotypes in Iraq. | We attempted to characterize biochemically glucose-6-phosphate dehydrogenase (G6PD) variants in Iraqi individuals. Thus 758 healthy Iraqi males aged 18-60 years were randomly selected and 46 (6.1%) were G6PD deficient. Although the predominant non-deficient G6PD phenotype was G6PD B (92.6%), G6PD A+ was found in polymo... |
2,339,278 | Single nucleotide polymorphism detection in aldehyde dehydrogenase 2 (ALDH2) gene using bacterial magnetic particles based on dissociation curve analysis. | Single nucleotide polymorphism (SNP) detection for aldehyde dehydrogenase 2 (ALDH2) gene based on DNA thermal dissociation curve analysis was successfully demonstrated using an automated system with bacterial magnetic particles (BMPs) by developing a new method for avoiding light scattering caused by nanometer-size par... |
2,339,279 | Polymorphisms in the trace amine receptor 4 (TRAR4) gene on chromosome 6q23.2 are associated with susceptibility to schizophrenia. | Several linkage studies across multiple population groups provide convergent support for a susceptibility locus for schizophrenia--and, more recently, for bipolar disorder--on chromosome 6q13-q26. We genotyped 192 European-ancestry and African American (AA) pedigrees with schizophrenia from samples that previously show... |
2,339,280 | Univerricht-Lundborg disease: underdiagnosed in the Netherlands. | Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy.</AbstractText>Mutation analysis of the cystatin B gene was performed in 21 cases... |
2,339,281 | Mice carrying the szt1 mutation exhibit increased seizure susceptibility and altered sensitivity to compounds acting at the m-channel. | Mutations in the genes that encode subunits of the M-type K+ channel (KCNQ2/KCNQ3) and nicotinic acetylcholine receptor (CHRNA4) cause epilepsy in humans. The purpose of this study was to examine the effects of the Szt1 mutation, which not only deletes most of the C-terminus of mouse Kcnq2, but also renders the Chnra4 ... |
2,339,282 | Duration of herd participation in dairy herd improvement milk recording in the United States. | Participation in milk-recording programs that provide data for national genetic evaluations of dairy cattle in the United States is voluntary, but the effectiveness of the evaluation system increases with the number of herds that contribute data. To investigate patterns of herd participation in Dairy Herd Improvement (... |
2,339,283 | Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias. | A definitive diagnosis of primary hyperoxaluria type 1 (PH1) and primary hyperoxaluria type 2 (PH2) requires the measurement of alanine:glyoxylate aminotransferase (AGT) and glyoxylate reductase (GR) activities, respectively, in a liver biopsy. We have evaluated a molecular genetic approach for the diagnosis of these a... |
2,339,284 | Should we maintain the 95 percent reference intervals in the era of wellness testing? A concept paper. | The reference interval is probably the most widely used decision-making tool in clinical practice, with a modern use aiming at identifying wellness during health check and screening. Its use as a diagnostic tool is much less recognised and may be obsolete. The present study investigates the consequences of the new prac... |
2,339,285 | Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotype. | Ring chromosomes are thought to be the result of breakage in both arms of a chromosome, with fusion of the points of fracture and loss of the distal fragments. Another mechanism of ring formation is believed to be the simple fusion of chromosome ends with preservation of telomeric and subtelomeric sequences. Ring chrom... |
2,339,286 | "You have shown me my end": attitudes toward presymptomatic testing for familial amyotrophic lateral sclerosis. | Amyotrophic lateral sclerosis (ALS) is a lethal degenerative motor neuron disease. Approximately, 5-10% of cases of ALS are familial (FALS), inherited primarily as an autosomal dominant trait. Recently, mutations in Cu/Zn superoxide dismutase (SOD1) have been identified; 15-20% of familial cases carry this mutation, pr... |
2,339,287 | Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. | The Fragile X syndrome is the most common cause of inherited mental retardation. Clinical features are neither specific nor constant and molecular diagnosis is thus widely used since the characterization of the causal mutation in 1991. The aim of this project was to study the evolution of Fragile X diagnosis in France.... |
2,339,288 | Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. | The authors report mutation screening of the p150 subunit of dynactin (DCTN1) and the cytoplasmic dynein heavy chain (DNCHC1) genes in 250 patients with ALS and 150 unrelated control subjects. Heterozygous missense mutations of the DCTN1 gene were detected in one apparently sporadic case of ALS (T1249I), one individual... |
2,339,289 | Enhanced retinal ganglion cell differentiation by ath5 and NSCL1 coexpression. | The molecular mechanism underlying retinal ganglion cell (RGC) differentiation is not fully understood. In this study, the role of the basic helix-loop-helix (bHLH) genes ath5 and NSCL1 in RGC differentiation was examined, by testing whether their coexpression would promote RGC differentiation to a greater extent than ... |
2,339,290 | Erythrocyte osmotic fragility test for screening of alpha-thalassemia-1 and beta-thalassemia trait in pregnancy. | To evaluate the sensitivity and specificity of osmotic fragility test (OFT) as a screening test in predicting the severe thalassemia trait (alpha-thalassemia-1 & beta-thalassemia).</AbstractText>A descriptive analysis and diagnostic test of non-anemic pregnant women attending antenatal care clinic, Maharaj Nakorn C... |
2,339,291 | Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. | A screen of the entire coding region of the USH2A gene in 129 unrelated patients with Usher syndrome type II (USH2) and in 146 unrelated patients with non-syndromic autosomal recessive retinitis pigmentosa (ARRP) uncovered 54 different sequence variations, including 18 likely pathogenic mutations (13 frameshift, three ... |
2,339,292 | Identification of insulin variants using Raman spectroscopy. | Drop coating deposition Raman (DCDR) spectroscopy is used to obtain high-quality normal Raman spectra from small volumes (10 microl) of dilute insulin solutions (3-400 microM) for spectral identification and chromatographic detection. The results are used to demonstrate the spectroscopic classification (identification)... |
2,339,293 | Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing. | The human transcriptome is constituted of a great majority of intron-containing and a minority of intron-lacking mRNAs; given the different processing these transcripts undergo, they are expected to carry, intermingled with coding properties, very different editing information. Here we applied a computational approach ... |
2,339,294 | The allelic spectra of common diseases may resemble the allelic spectrum of the full genome. | Identification of the genes responsible for common human diseases promises to be one of the most significant advances in medical knowledge and treatment. To date, the numerous attempts to identify the genes responsible for complex and multi-factorial common diseases have met with only a handful of successes. The key to... |
2,339,295 | Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease. | In this paper we discuss the clinical genetics of three neurodegenerative diseases (Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease), the current application of genetic testing for these diseases, and the role of genetic counseling in familial dementia. We review the literature addressing th... |
2,339,296 | Prospects of genetic research of mild cognitive impairment. | Mild cognitive impairment (MCI) is a common problem in the elderly. Genetic research may yield valuable clues to improve the diagnostic and prognostic tools for MCI. As the majority of patients progress into Alzheimer's disease (AD) and other forms of dementia, the genetics of MCI cannot be separated from the genetics ... |
2,339,297 | Family cancer histories predictive of a high risk of hereditary non-polyposis colorectal cancer associate significantly with a genomic rearrangement in hMSH2 or hMLH1. | Hereditary non-polyposis colorectal cancer (HNPCC) results from inactivating germline mutations in a set of DNA-mismatch-repair genes, of which the most clinically relevant are hMSH2 and hMLH1. Computer-assisted pedigree risk assessment tools are available to assist in the calculation of an individual's likelihood of b... |
2,339,298 | Genetic modification of T cells for cancer therapy. | The use of immune cells with restricted specificities for the treatment of cancer is a rapidly emerging area of clinical research. Chimeric receptors composed of the single-chain variable domain of murine antibodies and human signaling molecules are a promising tool to redirect the specificity of autologous or allogene... |
2,339,299 | Ethics of genetic counseling--basic concepts and relevance to Islamic communities. | Scientific advances and technical developments in the field of laboratory diagnosis and their practical applications have raised ethical issues linked to religion, beliefs, lifestyle and traditions prevailing in different communities. Some of these are pertinent to genetic screening at various stages of life, prenatal ... |
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