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2,338,900 | A second-generation genomic screen for multiple sclerosis. | Multiple sclerosis (MS) is a debilitating neuroimmunological and neurodegenerative disorder. Despite substantial evidence for polygenic inheritance of the disease, the major histocompatibility complex is the only region that clearly and consistently demonstrates linkage and association in MS studies. The goal of this s... |
2,338,901 | Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. | Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome. It is characterized by a distinct facial appearance, mental retardation, postnatal growth retardation, skeletal anomalies, unusual dermatoglyphics and fetal fingertip pads. It has previously been speculated that KS is caused by a mi... |
2,338,902 | A genome-wide scan points to a susceptibility locus for bipolar disorder on chromosome 12. | Our previous results pointed to a putative gene for susceptibility to bipolar affective disorder located on the chromosomal region 12q23-q24 that segregated in the Saguenay-Lac-St-Jean population of Quebec. We report here results from a second genome-wide scan based on the analysis of 380 polymorphic microsatellite mar... |
2,338,903 | High sensitive approach for point mutation detection based on electrochemiluminescence. | An electrochemiluminescence-polymerase chain reaction (ECL-PCR) method for point mutation detection has been developed. The target is amplified using a tris (bipyridine) ruthenium (TBR)-labeled forward and a biotinylated reverse primer. The amplification products are digested with specific restriction enzyme, then capt... |
2,338,904 | [Diagnostics of mucopolysaccharidoses presented through the case of Sanfilippo syndrome]. | Mucopolysaccharidoses (MPS) are recessive inheritable, progressive diseases of disordered degradation and storage of acid glucosaminoglycans. A five-year old child with psychomotor development retardation, which started at his age of two, was presented in our study. Clinical examination showed big head with rough facia... |
2,338,905 | Inter-patient variation in efficacy of five oncolytic adenovirus candidates for ovarian cancer therapy. | Gene therapy offers a new strategy for cancer treatment. Adenoviruses represent the most widely used gene therapy vector and feature an excellent safety record. Conditionally replicative adenoviruses (CRAds) effect solid tumor penetration and tumor selective oncolysis and consequently offer potential efficacy for metas... |
2,338,906 | Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. | Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting o... |
2,338,907 | [Universal hearing screening in newborns. Recommendations for organizing and conducting universal hearing screening for congenital hearing loss in Germany]. | The Interdisciplinary Consensus Conference for Newborn Hearing Screening (IKKNHS) has worked out joint recommendations for universal hearing screening of newborns. In the consensus paper, 11 professional associations and scientific societies in the fields of gynecology and obstetrics, ENT, pediatrics, and phoniatrics a... |
2,338,908 | Screening for G71R mutation of the UGT1A1 gene in the Javanese-Indonesian and Malay-Malaysian populations. | There are significant differences in the prevalence and severity of neonatal jaundice among various populations. Recently, it has been reported that a mutation of the UGT1A1 gene, glycine to arginine at codon 71 (G71R), is related to the development of neonatal jaundice in East Asian populations. However, whether the G... |
2,338,909 | Legal and ethical issues in cancer genetics nursing. | This article will set forth major interests at stake for patients considering predictive genetic testing, some legal bases for protecting patients, and general ethical principles that can guide cancer genetic nurses in their practice.</AbstractText>Review of health, ethical, and legal literature</AbstractText>There are... |
2,338,910 | Psychosocial aspects of genetic counseling and testing. | To highlight areas where persons who undergo BRCA1/2 mutation testing may benefit from psychosocial or behavioral support and intervention.</AbstractText>Published scientific literature, cal, and research experiences.</AbstractText>Key psychosocial areas that deserve attention by clinicians and researchers include: ind... |
2,338,911 | Common hereditary cancer syndromes. | To review cancer risk assessment and counseling, hereditary cancer syndrome risk factors, indicators for cancer predisposition testing, and interpretation of genetic test results.</AbstractText>Research studies, review articles, and authors' experience.</AbstractText>Approximately 10% of those with a diagnosis of cance... |
2,338,912 | Haplotype studies support slippage as the mechanism of germline mutations in short tandem repeats. | Germline mutations of human short tandem repeat (STR) loci are expansions or contractions of repeat arrays which are not well understood in terms of the mechanism(s) underlying such mutations. Although polymerase slippage is generally accepted as a mechanism capable to explain most features of such mutations, it is sti... |
2,338,913 | Differential-display PCR of peripheral blood for biomarker discovery in chronic fatigue syndrome. | We used differential-display PCR of peripheral blood mononuclear cells (PBMCs) to search for candidate biomarkers for chronic fatigue syndrome (CFS). PBMCs were collected from a subject with CFS and an age- and sex-matched control before and 24 h after exercise. RNA expression profiles were generated using 46 primer co... |
2,338,914 | Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. | Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation. Because there is no clinical feature specific for RSS, molecular analysis is necessary to confirm the diagnosis. Recently, maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in approximately ... |
2,338,915 | [Cloning of the Aspergillus fumigatus squalene epoxidase gene]. | To clone Aspergillus fumigatus squalene epoxidase gene and to further investigate its role in terbinafine resistance.</AbstractText>The A.fumigatus genomic DNA library was transformed into pyrG-A. fumigatus strain protoplasts with polyethylene glycol-mediated transformation protocol. TRB-resistant pyrG+ transformants w... |
2,338,916 | Coalescent-based association mapping and fine mapping of complex trait loci. | We outline a general coalescent framework for using genotype data in linkage disequilibrium-based mapping studies. Our approach unifies two main goals of gene mapping that have generally been treated separately in the past: detecting association (i.e., significance testing) and estimating the location of the causative ... |
2,338,917 | Classification and strength measurement of stationary-phase promoters by use of a newly developed promoter cloning vector. | When an Escherichia coli culture changes from exponential growth to the stationary phase, expression of growth-related genes levels off, while a number of stationary-phase-specific genes are turned on. To gain insight into the growth phase-dependent global regulation of genome transcription, we analyzed the strength an... |
2,338,918 | Hereditary neuropathy with liability to pressure palsy: fulminant development with axonal loss during military training. | Hereditary neuropathy with liability to pressure palsy (HNPP) is characterised by recurrent mononeuropathies following minor trauma. We describe a case of fulminant HNPP beginning on the first day of military physical training. Protracted weakness, muscle atrophy, hand contractures, and multifocal sensory loss develope... |
2,338,919 | Impact of 16S rRNA gene sequence analysis for identification of bacteria on clinical microbiology and infectious diseases. | The traditional identification of bacteria on the basis of phenotypic characteristics is generally not as accurate as identification based on genotypic methods. Comparison of the bacterial 16S rRNA gene sequence has emerged as a preferred genetic technique. 16S rRNA gene sequence analysis can better identify poorly des... |
2,338,920 | Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function. | Alveolar rhabdomyosarcoma is an aggressive childhood muscle cancer for which outcomes are poor when the disease is advanced. Although well-developed mouse models exist for embryonal and pleomorphic rhabdomyosarcomas, neither a spontaneous nor a transgenic mouse model of alveolar rhabdomyosarcoma has yet been reported. ... |
2,338,921 | PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism. | We provide a pragmatic guide for clinicians, and detail the recent developments in the genetics of Parkinson's disease that have shaped our current understanding and management of this disease and other parkinsonian disorders. These developments have been rapid, and in total over 20 genes have been identified, three of... |
2,338,922 | Two prevalent h alleles in para-Bombay haplotypes among 250,000 Taiwanese. | Alpha(1,2)-fucosyltransferase catalyzes the transfer of fucose to the C-2 position of galactose on type II precursor substrate Gal beta1-4GlcNAc beta1-R. It plays an important biological role in the formation of H antigen, a precursor oligosaccharide for both A and B antigens on red blood cells. Aberration of alpha(1,2... |
2,338,923 | Runx2/Cbfa1-genetically engineered skeletal myoblasts mineralize collagen scaffolds in vitro. | Genetic engineering of progenitor and stem cells is an attractive approach to address cell sourcing limitations associated with tissue engineering applications. Bone tissue engineering represents a promising strategy to repair large bone defects, but has been limited in part by the availability of a sustained, minerali... |
2,338,924 | Immunocompetent mouse model of breast cancer for preclinical testing of EphA2-targeted therapy. | EphA2, a receptor tyrosine kinase, is elevated in many invasive human breast cancers, and the majority of EphA2 remains unphosphorylated. The successful attachment of ligand EphrinA1 present on the surface of adjacent cells to EphA2 initiates EphA2 phosphorylation leading to its turnover. In vivo efficacy of various ap... |
2,338,925 | Genetic screening: carriers and affected individuals. | Genetic screening utilizes analytical approaches adapted for high throughput to identify carrier and affected individuals in a targeted population. Currently, genetic screening focuses on carrier screening, prenatal screening, and newborn screening. Newborn screening should serve as a model for all genetic screening, w... |
2,338,926 | Genetic testing in primary care. | Rapid advances in genetic research are leading to an expanding array of genetic tests. Primary care providers will increasingly be challenged to identify patients whose symptoms, physical findings, or family history indicate the need for genetic testing, and to determine how to use genetic information most effectively ... |
2,338,927 | Genotype-based screening for hereditary haemochromatosis. I: Technical performance, costs and clinical relevance of a German pilot study. | In 2001, we initiated a pilot study on DNA-based screening of hereditary haemochromatosis (HH) in Germany. A total of 5882 insurants of the German sickness fund Kaufmannische Krankenkasse-KKH requested information on this project, and 3961 of these individuals provided blood samples for testing of the HFE mutation C282... |
2,338,928 | Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China). | The striking geographical and ethnic distribution of nasopharyngeal carcinoma (NPC) suggests the involvement of genetic and environmental factors in NPC development. The purpose of this study is to investigate the fit of single gene, polygenic and multifactorial models to the observed pattern of transmission of NPC in ... |
2,338,929 | Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). | In routine prenatal diagnostics we used a commercial multiplex ligation-dependent probe amplification (MLPA) kit for aneuploidy screening for chromosomes 13, 18, 21, X and Y. We present the results of 1593 consecutive prenatal samples analysed and diagnosed prior to knowledge of the G-banding analysis during 8-month ro... |
2,338,930 | Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. | Recently, Hagerman et al described the occurrence of a late-onset neurological disorder in five male carriers of the fragile-X (FMR-1) premutation. The major characteristics of this disorder, designated the Fragile-X Tremor Ataxia Syndrome (FXTAS), are progressive intention tremor, cerebellar ataxia and cognitive decli... |
2,338,931 | Association of serotonin 5-HT2A receptor binding and the T102C polymorphism in depressed and healthy Caucasian subjects. | Serotonin 5-HT2A receptor (5-HT2A) binding is reported to be altered in individuals with suicidal behavior, mood disorders, and aggressive-impulsive traits. Genetic association with major depression, suicidal behavior, and aggressive-impulsive traits has not been established. This study examines the possible associatio... |
2,338,932 | Quantitative detection of methylated SOCS-1 , a tumor suppressor gene, by a modified protocol of quantitative real time methylation-specific PCR using SYBR green and its use in early gastric cancer detection. | Although methylation-specific PCR (MSP) is a sensitive technique in the detection of DNA hypermethylation, it is not quantitative. Here we described a modified PCR protocol to quantify methylated SOCS-1 gene by real time MSP using SYBR green, which involves an additional PCR step after the 72 degrees C extension step. ... |
2,338,933 | Development of androgen- and estrogen-responsive bioassays, members of a panel of human cell line-based highly selective steroid-responsive bioassays. | We have established highly sensitive and specific androgen and estrogen reporter cell lines which we have named AR (androgen receptor) and ERalpha (estrogen receptor alpha) CALUX (Chemically Activated LUciferase eXpression), respectively. Both bioassays are member of a panel of CALUX reporter cell lines derived from th... |
2,338,934 | Infrequent milk progesterone measurements in daughters enable bull selection for cow fertility. | The interval from calving to first luteal activity (CLA) has been suggested as an unbiased and, therefore, preferable measure for selection on female fertility in dairy cattle. However, measurement of this interval for individual cows is not feasible for reasons of cost and labor associated with the necessary frequent ... |
2,338,935 | Implications of genetic risk information in families with a high density of bipolar disorder: an exploratory study. | While major susceptibility genes for bipolar disorder are yet to be identified, the opportunity exists to systematically ascertain the important issues and societal implications of genetic risk determination for bipolar disorder prior to these technological advances becoming widely available. This study explores, in a ... |
2,338,936 | Preimplantation genetic diagnosis for polycystic kidney disease. | To use preimplantation genetic diagnosis for achieving a polycystic kidney disease (PKD)-free pregnancy for a couple in which the female partner was affected by PKD but whose PKD1 or PKD2 carrier status was not established.</AbstractText>Case report.</AbstractText>The IVF program of Reproductive Genetics Institute, Chi... |
2,338,937 | Novel missense polymorphism in the regulator of G-protein signaling 10 gene: analysis of association with schizophrenia. | Dysfunction of neuronal signal transduction via G-protein has previously been speculated to be involved in the pathophysiology of schizophrenia. Regulator of G-protein signaling (RGS) is a protein that acts as a GTPase-activator for Galpha protein. A total of 33 Japanese patients with schizophrenia were screened for mu... |
2,338,938 | Characterization of nodavirus and viral encephalopathy and retinopathy in farmed turbot, Scophthalmus maximus (L.). | An outbreak of nodavirus infection in turbot larvae is described with respect to histopathology, immunohistochemistry, cell culture cultivation, RT-PCR amplification and sequence analysis of the capsid protein gene RNA2. Affected turbot developed classical signs of viral encephalopathy and retinopathy (VER) with abnorm... |
2,338,939 | A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. | Herein we describe a novel alpha-thalassemia (thal) point mutation in the alpha2-globin gene, found in a 3-year-old Tunisian girl who had Hb Bart's (gamma4) at birth, later on presenting with moderate anemia, microcytosis and hypochromia. She had a normal Hb A2 level and no abnormal hemoglobin (Hb) fraction. After excl... |
2,338,940 | The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. | Hb E [beta26(B8)Glu-->Lys], is the most common abnormal hemoglobin (Hb) in Southeast Asian populations. The hitherto highest frequencies of the Hb E gene (HBB*E) in large population samples, approximately 0.3, were observed in the southern part of northeastern Thailand. The finding of even higher frequencies in a sm... |
2,338,941 | Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity. | We determined the spectrum of beta-thalassemia (thal) mutations in 118 affected unrelated patients with different forms of beta-thal. Using a combination of reverse dot-blot analysis, denaturing gradient gel electrophoresis (DGGE), polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP) and direct... |
2,338,942 | Molecular basis of beta-thalassemia in the population of Tunisia. | The present study attempts to delineate the spectrum of beta-thalassemia (thal) mutations in Tunisia by studying a large population from different parts of the country. A total of 285 unrelated subjects, 190 of whom had beta-thal major, 72 with Hb S/beta-thal, one with Hb C/beta-thal, one with Hb O-Arab/beta-thal and 2... |
2,338,943 | Unrelated donor marrow transplantation for congenital immunodeficiency and metabolic disease: an update of the experience of the Japan Marrow Donor Program. | We retrospectively analyzed the clinical results of 81 patients with congenital genetic diseases who were treated with bone marrow transplantation (BMT) from unrelated donors identified through the Japan Marrow Donor Program. The patients were aged between 1 and 38 years (median, 4 years). Thirty-five patients underwen... |
2,338,944 | Hemoglobin Pakse: presence on red blood cell membrane and detection by polymerase chain reaction-single-strand conformational polymorphism. | Nondeletional gene mutations giving rise to alpha-thalassemia can be found at polymorphic frequency in Southeast Asia. Although the most common is hemoglobin Constant Spring (Hb CS), caused by a termination codon mutation (UAA --> CAA, Gln) in the alpha2-globin gene and resulting in reduced synthesis of the elongate... |
2,338,945 | [Patterns of maternal behavior of rats genetically selected for opposite coping styles]. | Maternal behavior of Koltushi High- and Low-avoidance (KHA and KLA) rats strains was assessed over the prewealing period (days 6-21). Ten litters of each strain were observed during the light phase of the light/dark cycle. In a series of experiments, rat pups were taken from the maternal nest and placed into the opposi... |
2,338,946 | Testing the hypothesis of a recombinant origin of the SARS-associated coronavirus. | The origin of severe acute respiratory syndrome-associated corona-virus (SARS-CoV) is still a matter of speculation, although more than one year has passed since the onset of the SARS outbreak. In this study, we implemented a 3-step strategy to test the intriguing hypothesis that SARS-CoV might have been derived from a... |
2,338,947 | TRbase: a database relating tandem repeats to disease genes for the human genome. | Tandem repeats are associated with disease genes, play an important role in evolution and are important in genomic organization and function. Although much research has been done on short perfect patterns of repeats, there has been less focus on imperfect repeats. Thus, there is an acute need for a tandem repeats datab... |
2,338,948 | An empirical Bayes approach to inferring large-scale gene association networks. | Genetic networks are often described statistically using graphical models (e.g. Bayesian networks). However, inferring the network structure offers a serious challenge in microarray analysis where the sample size is small compared to the number of considered genes. This renders many standard algorithms for graphical mo... |
2,338,949 | Multispecific T cell response and negative HCV RNA tests during acute HCV infection are early prognostic factors of spontaneous clearance. | <AbstractText Label="BACKGROUND/AIMS" NlmCategory="OBJECTIVE">Hepatitis C virus (HCV) infection results in a high frequency of chronic disease. The aim of this study was to identify early prognostic markers of disease resolution by performing a comprehensive analysis of viral and host factors during the natural course ... |
2,338,950 | A genetic test which can be used to diagnose adult-type hypolactasia in children. | <AbstractText Label="BACKGROUND/AIMS" NlmCategory="OBJECTIVE">Adult-type hypolactasia (primary lactose malabsorption) affects most of world's human population and limits the use of fresh milk due to lactose intolerance. The diagnosis of adult-type hypolactasia has been difficult to establish because of unsatisfactory d... |
2,338,951 | Non-invasive method for sampling and extraction of mouse DNA for PCR. | We adapted a non-invasive, fast, reliable and inexpensive procedure for the sampling and extraction of deoxyribonucleic acid (DNA) for genetic testing of mice. The procedure is based on a simple DNA extraction procedure used in the forensic genetic testing of humans. It involves mouth swabbing of the inner cheek using ... |
2,338,952 | Molecular investigation of hepatitis E virus infection in domestic and miniature pigs used for medical experiments. | Hepatitis E virus (HEV) infection is highly prevalent among domestic pigs in Japan. It has been reported that pig handlers such as farmers and veterinarians are at increased risk of contracting HEV infection. Pigs are regarded as the most acceptable candidate animals for xenotransplantation and, recently, they are bein... |
2,338,953 | C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community. | Limb-girdle muscular dystrophy type 2C (LGMD2C) is caused by mutations in the gamma-sarcoglycan gene where a founder Gypsy mutation C283Y was detected. The Bulgarian Gypsy LGMD2C patients, as the Gypsy patients from other countries, were found to be homozygous for this mutation. Considering the large number of Gypsies ... |
2,338,954 | SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. | Mutations within three genes, SDHB, SDHC, and SDHD, encoding distinct subunits of a hetero-oligomeric protein known as the mitochondrial complex II, a component of the mitochondrial electron transport chain and the Krebs cycle have been implicated in the pathogenesis of hereditary paraganglioma (PGL). This study descri... |
2,338,955 | Attitudes and beliefs concerning prostate cancer genetic screening. | This quantitative study determines the values, beliefs, and attitudes influencing the intention of men to undergo or defer genetic testing for prostate cancer risk using a model based on components of the Theory of Reasoned Action and Health Belief Model. Telephone interviews of a community sample of 400 men in a large... |
2,338,956 | Anticipated reactions to genetic testing for hereditary non-polyposis colorectal cancer susceptibility. | Genetic testing for cancer susceptibility (e.g. hereditary non-polyposis colorectal cancer) is available for some families with a history of colon cancer. Our aim was to investigate participants' anticipated emotional and behavioral reactions to genetic testing for colon cancer and whether gender or clinical risk influ... |
2,338,957 | Research issues in genetic testing of adolescents for obesity. | Obesity is often established in adolescence, and advances are being made in identifying its genetic underpinnings. We examine issues related to the eventual likelihood of genetic tests for obesity targeted to adolescents: family involvement; comprehension of the test's meaning; how knowledge of genetic status may affec... |
2,338,958 | Haplotype analysis and identification of genes for a complex trait: examples from schizophrenia. | For more than a decade there has been intensive research into the genetic etiology of schizophrenia, yet it is only recently that the first findings of promising genes associating with the disorder have been reported. Linkage analyses in families collected from different populations have provided relatively well define... |
2,338,959 | A multicenter study of supportive-expressive group therapy for women with BRCA1/BRCA2 mutations. | Women with a BRCA1/BRCA2 mutation experience significant challenges. These include decision-making regarding surgical options and notification to offspring and family, along with a sense of isolation, which may lead to psychological and emotional distress. The current study developed, standardized, and conducted prelim... |
2,338,960 | EILATox-Oregon Workshop: blind study evaluation of Vitotox test with genotoxic and cytotoxic sample library. | In order to assess the robustness, sensitivity and specificity of a recently developed Vitotox test, 17 blind coded chemicals and three environmental water samples were tested at the EILATox-Oregon Workshop using the Thermo Electron Vitotox kit. The Vitotox test is a rapid geno- and cytotoxicity test using standard 96-... |
2,338,961 | Testing species boundaries in an ancient species complex with deep phylogeographic history: genus Xantusia (Squamata: Xantusiidae). | Identification of species in natural populations has recently received increased attention with a number of investigators proposing rigorous methods for species delimitation. Morphologically conservative species (or species complexes) with deep phylogenetic histories (and limited gene flow) are likely to pose particula... |
2,338,962 | Acanthamoeba keratitis in non-contact lens wearers in India: DNA typing-based validation and a simple detection assay. | To establish that the protozoan Acanthamoeba is one of the causative organisms associated with non-contact lens-related keratitis in the Indian population and to develop a simple and sensitive diagnostic assay for clinical testing.</AbstractText>DNA sequencing of nuclear 18S and 26S ribosomal DNA motifs was performed a... |
2,338,963 | Temporal bone histopathology in alport syndrome. | To determine the histopathologic abnormalities within the cochlea in Alport syndrome.</AbstractText>Alport syndrome, which manifests as hereditary nephritis and sensorineural hearing loss (SNHL), is caused by mutations in genes that code for the proportional, variant3, proportional, variant4, and proportional, variant5... |
2,338,964 | Public experiences, knowledge and expectations about medical genetics and the use of genetic information. | The objectives of this study were (1) to explore public experiences, genetic knowledge, expectations of future medical genetic developments, and the attitudes towards the use of genetic information, and (2) to determine whether there are subject characteristics associated with these variables.</AbstractText>Participant... |
2,338,965 | Effects of individual and family functioning on interest in genetic testing. | The present study reports on the important issue of how family communication and support regarding breast cancer risk affects interest in genetic testing and mental health.</AbstractText>Participants (n = 221) were women aged 18-74 who had at least one relative of Ashkenazi Jewish descent, no personal history of breast... |
2,338,966 | Family communication about genetic risk: the little that is known. | Although family communication is important in clinical genetics only a small number of studies have specifically explored the passing on of genetic knowledge to family members. In addition, many of these present exploratory or tentative findings based upon small sample sizes, or data collected only a short time after t... |
2,338,967 | Identifying multiple changepoints in heterogeneous binary data with an application to molecular genetics. | Identifying changepoints is an important problem in molecular genetics. Our motivating example is from cancer genetics where interest focuses on identifying areas of a chromosome with an increased likelihood of a tumor suppressor gene. Loss of heterozygosity (LOH) is a binary measure of allelic loss in which abrupt cha... |
2,338,968 | Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. | Germline mutations in the DNA mismatch repair (MMR) genes MSH2 and MLH1 are responsible for the majority of hereditary non-polyposis colorectal cancer (HNPCC), an autosomal-dominant early-onset cancer syndrome. Genetic testing of both MSH2 and MLH1 from individuals suspected of HNPCC has revealed a considerable number ... |
2,338,969 | Association of CYP3A4 genotype with detection of Vgamma/Jbeta trans-rearrangements in the peripheral blood leukocytes of pediatric cancer patients undergoing chemotherapy for ALL. | Cancer patients receiving chemotherapy are exposed to high doses of cytotoxic and genotoxic drugs which, in some cases, can lead to treatment related leukemia. Since this only occurs in a minority of patients, however, it is possible some individuals are predisposed due to genetic polymorphisms in genes for enzymes tha... |
2,338,970 | The use of hydrophobins to functionalize surfaces. | The physiochemical nature of surfaces can be changed by small proteins which are secreted by filamentous fungi. These proteins, called hydrophobins, are characterized by the presence of eight conserved cysteine residues and a typical hydropathy pattern. Upon contact with a hydrophilic-hydrophobic interface they self-as... |
2,338,971 | Accuracy of phenotypic and genotypic testing for identification of Streptococcus pneumoniae and description of Streptococcus pseudopneumoniae sp. nov. | We have identified an unusual group of viridans group streptococci that resemble Streptococcus pneumoniae. DNA-DNA homology studies suggested that a subset of these isolates represent a novel species that may be included in the S. oralis-S. mitis group of viridans group streptococci. We suggest that this novel species ... |
2,338,972 | PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. | Mutations in the PROP1 gene are the most frequent genetic defects in patients with combined pituitary hormone insufficiency. However, controversy exists about the timing and extent of pituitary insufficiency, and it remains unclear whether adrenal failure is a typical feature of this condition. We performed a retrospec... |
2,338,973 | The catalase -262C/T promoter polymorphism and aging phenotypes. | A low level of the central antioxidant enzyme catalase has been suggested to be a risk factor for diseases influenced by oxidative stress. In this study, we investigated the possible association of the catalase -262C/T polymorphism with survival, physical and cognitive functioning, and a number of oxidative stress-medi... |
2,338,974 | Quantitative genomics: exploring the genetic architecture of complex trait predisposition. | Most phenotypes with agricultural or biomedical relevance are multifactorial traits controlled by complex contributions of genetics and environment. Genetic predisposition results from combinations of relatively small effects due to variations within a large number of genes, known as QTL. Well over 200 QTL have been re... |
2,338,975 | Highly refractory acute myeloid leukemia. | In this study we evaluated 103 patients suffering from acute myeloid leukemia (AML) who did not respond to induction chemotherapy and defined a sub-group of patients with highly refractory disease characterized by a persistence of more than 1 G/L blast cells in the peripheral blood between days 12 and 16 of the first i... |
2,338,976 | Development of a universal gap repair vector for yeast-based screening of knockout rodents. | Recently, we reported the production of the first knockout rats by combining N-ethyl-N-nitrosourea (ENU)-induced mutagenesis with a yeast-based truncation screening method. To make this new knockout technology more applicable for other laboratories and for high-throughput applications, we have developed a universal gap... |
2,338,977 | "They want to know where they came from": population genetics, identity, and family genealogy. | This paper discusses the changing relationship between population genetics, family genealogy and identity. It reports on empirical research with participants in a genetic study who anticipated that personal feedback on the analysis of their donated samples would elucidate aspects of their own family genealogies. The pa... |
2,338,978 | Ethical issues in the diagnostic genetic testing process. | The diagnostic genetic testing process has certain unique ethical features and deserves special consideration. The purpose of this study was to determine through empirical research, using focussed interview, what ethical issues are involved in the diagnostic genetic testing process. This article describes views and per... |
2,338,979 | Small cell astrocytoma: an aggressive variant that is clinicopathologically and genetically distinct from anaplastic oligodendroglioma. | Small cell glioblastoma (GBM) is a variant with monomorphous, deceptively bland nuclei that often is misdiagnosed as anaplastic oligodendroglioma.</AbstractText>To elucidate its clinicopathologic and genetic features, the authors studied 71 adult patients (median age, 57 years), including 22 patients who were identifie... |
2,338,980 | New tools for preimplantation genetic diagnosis of Huntington's disease and their clinical applications. | Huntington's disease (HD) is a late-onset neurodegenerative disorder transmitted as an autosomal dominant trait. The causative mutation was characterised in 1993. For HD carriers willing to create a family, prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD) based on the mutation identification can be o... |
2,338,981 | Predictive genetic testing in young people: when is it appropriate? | Predictive genetic testing is currently offered to adults for a range of conditions, even when there is no possibility of prophylaxis or treatment. However, similar testing in children and adolescents is advised against in international guidelines. Despite this, several authors have argued against the existing guidelin... |
2,338,982 | Methods for testing familial aggregation of diseases in population-based samples: application to Hodgkin lymphoma in Swedish registry data. | We use data on lymphoma in families of Hodgkin lymphoma (HL) cases from the Swedish Family Cancer Database (Hemminki et al. 2001) to illustrate survival methods for detecting familial aggregation in first degree relatives of case probands compared to first degree relatives of control probands, from registries that perm... |
2,338,983 | Some statistical and regulatory issues in the evaluation of genetic and genomic tests. | The genomics revolution is reverberating throughout the worlds of pharmaceutical drugs, genetic testing and statistical science. This revolution, which uses single nucleotide polymorphisms (SNPs) and gene expression technology, including cDNA and oligonucleotide microarrays, for a range of tests from home-brews to high... |
2,338,984 | Progress in epidermolysis bullosa: genetic classification and clinical implications. | Epidermolysis bullosa (EB), a heterogenous group of genodermatoses, is characterized by fragility and blistering of the skin associated with extracutaneous manifestations. Based on clinical severity, constellation of the phenotypic manifestations, and the level of tissue separation within the cutaneous basement membran... |
2,338,985 | Huntington's Disease-like 2 (HDL2) in North America and Japan. | Huntington's Disease-like 2 (HDL2) is a progressive, autosomal dominant, neurodegenerative disorder with marked clinical and pathological similarities to Huntington's disease (HD). The causal mutation is a CTG/CAG expansion mutation on chromosome 16q24.3, in a variably spliced exon of junctophilin-3. The frequency of H... |
2,338,986 | Genetics of human arterial hypertension. | Arterial hypertension is one of the major cardiovascular risk factors in Western countries. Besides some well established, but rather rare forms of secondary hypertension, essential hypertension is the most common diagnosis. The hereditary nature of this disease has been well established in many familial studies. The q... |
2,338,987 | BagBoosting for tumor classification with gene expression data. | Microarray experiments are expected to contribute significantly to the progress in cancer treatment by enabling a precise and early diagnosis. They create a need for class prediction tools, which can deal with a large number of highly correlated input variables, perform feature selection and provide class probability e... |
2,338,988 | The novel germline mutation of the hMLH1 gene in a case of suspected hereditary non-polyposis colorectal cancer (HNPCC) in a patient with no family history of cancer. | Hereditary non-polyposis colorectal cancer (HNPCC) is a very important clinical entity in oncology. In order to identify HNPCC, the international diagnostic criteria, named 'Amsterdam criteria', has been used. In this report, we present a patient with HNPCC who completely lacks a family history of cancer, thus does not... |
2,338,989 | Developmental outcomes with early orthotopic liver transplantation for infants with neonatal-onset urea cycle defects and a female patient with late-onset ornithine transcarbamylase deficiency. | Urea cycle defects (UCDs) typically present with hyperammonemia, the duration and peak levels of which are directly related to the neurologic outcome. Liver transplantation can cure the underlying defect for some conditions, but the preexisting neurologic status is a major factor in the final outcome. Multicenter data ... |
2,338,990 | Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males. | Mental retardation (MR) affects 2-3% of the human population and some of these cases are genetically determined. Although several genes responsible for MR have been identified, many cases have still not been explained.</AbstractText>We have identified a pericentric inversion of the X chromosome inv(X)(p22.3;q13.2) segr... |
2,338,991 | Recent advances in understanding haemochromatosis: a transition state. | Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an antimicrobial peptide that plays a key role in regulating intestinal iron absorption. Hepcidin levels are reduced in patients with haemochromatosis due to mutations in th... |
2,338,992 | High concordance of bipolar I disorder in a nationwide sample of twins. | The few studies of bipolar I disorder in twins have consistently emphasized the genetic contribution to disease liability. The authors report what appears to be the first twin study of bipolar I disorder involving a population-based twin sample, in which the diagnoses were made by using structured, personal interviews.... |
2,338,993 | Induction of comprehensible models for gene expression datasets by subgroup discovery methodology. | Finding disease markers (classifiers) from gene expression data by machine learning algorithms is characterized by a high risk of overfitting the data due the abundance of attributes (simultaneously measured gene expression values) and shortage of available examples (observations). To avoid this pitfall and achieve pre... |
2,338,994 | Discovering significant and interpretable patterns from multifactorial DNA microarray data with poor replication. | Multivariate analyses are advantageous for the simultaneous testing of the separate and combined effects of many variables and of their interactions. In factorial designs with many factors and/or levels, however, sufficient replication is often prohibitively costly. Furthermore, complicated statements are often require... |
2,338,995 | Cancer classification and prediction using logistic regression with Bayesian gene selection. | In microarray-based cancer classification and prediction, gene selection is an important research problem owing to the large number of genes and the small number of experimental conditions. In this paper, we propose a Bayesian approach to gene selection and classification using the logistic regression model. The basic ... |
2,338,996 | Comprehensive vertical sample-based KNN/LSVM classification for gene expression analysis. | Classification analysis of microarray gene expression data has been widely used to uncover biological features and to distinguish closely related cell types that often appear in the diagnosis of cancer. However, the number of dimensions of gene expression data is often very high, e.g., in the hundreds or thousands. Acc... |
2,338,997 | Harnessing the potential of cancer genetics in healthcare. | The advancement of knowledge in genetics will have a profound effect on prediction, prevention, and treatment of cancer. It has the potential to offer more personalised healthcare that accords with an individual's genetic profile. However, the complex medical, ethical, legal, and psychosocial issues brought by our abil... |
2,338,998 | Colorectal cancer and inherited mutations in base-excision repair. | Polyposis associated with mutations in the gene MUTYH is an autosomal recessive syndrome characterised by the development of multiple colorectal adenomas and cancer. It is the first cancer-predisposition disorder to be associated with defects in the pathway of base-excision repair. We review our knowledge to date of th... |
2,338,999 | Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. | We administered a culturally corrected University of Pennsylvania Smell Identification Test (ccUPSIT) consisting of 25 odor items to 20 patients with 'Lubag' or X-linked dystonia-parkinsonism and 20 control subjects matched by sex, age, educational background, smoking history, and geographical origin. The mean ccUPSIT ... |
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