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2,337,800 | Molecular analysis of Iranian families with sickle cell disease. | Sickle hemoglobin is a mutant hemoglobin in which valine has been substituted for the glutamic acid normally at the sixth amino acid of the beta-globin chain. Detection of the single base pair mutation at codon 6 of the beta-globin gene is important for the prenatal diagnosis of sickle cell anemia and sickle cell disea... |
2,337,801 | Accuracy of MSI testing in predicting germline mutations of MSH2 and MLH1: a case study in Bayesian meta-analysis of diagnostic tests without a gold standard. | Microsatellite instability (MSI) testing is a common screening procedure used to identify families that may harbor mutations of a mismatch repair (MMR) gene and therefore may be at high risk for hereditary colorectal cancer. A reliable estimate of sensitivity and specificity of MSI for detecting germline mutations of M... |
2,337,802 | Identifying future models for delivering genetic services: a nominal group study in primary care. | To enable primary care medical practitioners to generate a range of possible service delivery models for genetic counselling services and critically assess their suitability.</AbstractText>Modified nominal group technique using in primary care professional development workshops.</AbstractText>37 general practitioners i... |
2,337,803 | Genetic analysis of modern and historical burned human remains. | Burning of corpses is a well-known funeral procedure that has been performed for a long time in many cultures. Nowadays more and more corpses are burned in crematories and buried in urns, often for practical and financial reasons. In some scientific, criminal or civil cases even after cremation there is the need of gen... |
2,337,804 | Candidate-gene screening and association analysis at the autism-susceptibility locus on chromosome 16p: evidence of association at GRIN2A and ABAT. | Autism is a highly heritable neurodevelopmental disorder whose underlying genetic causes have yet to be identified. To date, there have been eight genome screens for autism, two of which identified a putative susceptibility locus on chromosome 16p. In the present study, 10 positional candidate genes that map to 16p11-1... |
2,337,805 | Familial vesicoureteral reflux: testing replication of linkage in seven new multigenerational kindreds. | Vesicoureteral reflux (VUR) (OMIM %193000), a common cause of childhood renal failure, is strongly influenced by hereditary factors. Familial VUR most closely conforms to autosomal-dominant inheritance, but because of variable penetrance and expressivity, large multigenerational pedigrees tractable to linkage analysis ... |
2,337,806 | Gene SNPs and mutations in clinical genetic testing: haplotype-based testing and analysis. | Haplotype-based analysis using high-density single nucleotide polymorphism (SNP) markers have gained increasing attention in evaluating candidate genes in various clinical situations. For example, haplotype information is useful for predicting the severity and prognosis of certain genetic disorders. The intragenic cis-... |
2,337,807 | Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. | Clinical genetic testing is increasingly employed in the medical management of cancer patients. These tests support a variety of clinical decisions by providing results that indicate risk for future disease, confirmation of diagnoses, and more recently, therapeutic selection and prognosis. Most genetic variation detect... |
2,337,808 | Mutation detection, interpretation, and applications in the clinical laboratory setting. | Mutation detection plays an increasingly significant role in clinical diagnostic testing, posing formidable challenges for laboratories. The expanding indications for clinical molecular testing and the nuances of interpreting test results are discussed. Methods for screening mutation detection platforms and monitoring ... |
2,337,809 | Assessment of two flexible and compatible SNP genotyping platforms: TaqMan SNP Genotyping Assays and the SNPlex Genotyping System. | In this review we describe the principles, protocols, and applications of two commercially available SNP genotyping platforms, the TaqMan SNP Genotyping Assays and the SNPlex Genotyping System. Combined, these two technologies meet the requirements of multiple SNP applications in genetics research and pharmacogenetics.... |
2,337,810 | Genes, genomes and identity. Projections on matter. | This paper aims to show that references to genes and genomes are counterproductive in legal and political understandings of what it is to be human and a unique individual. To support this claim, I will give a brief overview of the many incompatible meanings the term 'identity' has gathered in reference to genes or geno... |
2,337,811 | Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR. | Duplication of the proteolipid protein gene (PLP1) is the most frequent cause of Pelizaeus-Merzbacher disease (PMD), a severe X-linked myelination disorder. We developed an assay for the detection of the PLP1 gene dosage by real-time quantitative PCR using the ABI Prism 7700 Sequence Detection System and the TaqMan che... |
2,337,812 | Hardy-Weinberg equilibrium in genetic association studies: an empirical evaluation of reporting, deviations, and power. | We evaluated the testing and reporting of Hardy-Weinberg equilibrium (HWE) in recent genetic association studies, detected how frequently HWE was violated and estimated the power for HWE testing in this literature. Genetic association studies published in 2002 in Nature Genetics, American Journal of Human Genetics, and... |
2,337,813 | Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer. | Given the current context of racial disparities in health and health care and the historical context of eugenics, racial disparities in the use of genetic susceptibility testing have been widely anticipated. However, to our knowledge there are no published studies examining the magnitude and determinants of racial diff... |
2,337,814 | Sarcocystis neurona-associated meningoencephalitis and description of intramuscular sarcocysts in a fisher (Martes pennanti). | A free-ranging juvenile fisher (Martes pennanti) with ataxia, lethargy, stupor, and intermittent, whole-body tremors was examined postmortem. Microscopically, the fisher had protozoal meningoencephalitis caused by Sarcocystis neurona, which was confirmed by immunohistochemistry, polymerase chain reaction (PCR) and rest... |
2,337,815 | Replication-competent adenovirus formation in 293 cells: the recombination-based rate is influenced by structure and location of the transgene cassette and not increased by overproduction of HsRad51, Rad51-interacting, or E2F family proteins. | Propagation of E1 region replacement adenovirus vectors in 293 cells results in the rare appearance of replication-competent adenovirus (RCA). The RCA genome contains E1 DNA acquired from the 293 cellular genome. The Luria-Delbruck fluctuation test was adapted to measure RCA formation rates. To test if structure affect... |
2,337,816 | Seliciclib (CYC202 or R-roscovitine), a small-molecule cyclin-dependent kinase inhibitor, mediates activity via down-regulation of Mcl-1 in multiple myeloma. | Cyclin-dependent kinase (CDK) inhibitors have the potential to induce cell-cycle arrest and apoptosis in cancer cells. Seliciclib (CYC202 or R-roscovitine) is a potent CDK inhibitor currently undergoing phase-2 clinical testing in lung and B-cell malignancies. Here we studied the in vitro cytotoxic activity of selicicl... |
2,337,817 | A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus. | Generalised epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous epilepsy syndrome. Using positional cloning strategies, mutations in SCN1B, SCN1A, and GABRG2 have been identified as genetic causes of GEFS+. In the present study, we describe a large four generation family with GEFS+... |
2,337,818 | Genetic testing: who should do the testing and what is the role of genetic testing in the setting of celiac disease? | Celiac disease is a remarkable and common immune-mediated disorder determined by both the presence of characteristic HLA alleles (DQ2 and DQ8) and one of the best characterized environmental factors (gliadin) for any common autoimmune disease. The discovery of transglutaminase autoantibodies and the development of assa... |
2,337,819 | [Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling]. | To detect MD1 premutation and full mutation carriers among cataract patients and offer familial genetic counseling.</AbstractText>We studied the DNA of 60 selected cataract patients through polymerase chain reaction analysis. This study was performed at the "Hospital das Clínicas da Faculdade de Medicina de Ribeir... |
2,337,820 | PRNP H187R mutation associated with neuropsychiatric disorders in childhood and dementia. | Described is a large family with an autosomal dominant dementia associated with an H187R mutation in the prion protein gene (PRNP). Clinical features include neuropsychiatric disturbances in childhood and adolescence, dementia in young adulthood with frontotemporal manifestations, and long disease duration. Neuropathol... |
2,337,821 | The clinical and genetic spectrum of spinocerebellar ataxia 14. | Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and ... |
2,337,822 | Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults. | Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activ... |
2,337,823 | A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles. | To report a dominant, slowly progressive early onset distal myopathy with sparing of the tibialis anterior.</AbstractText>Twelve affected and two possibly affected members from an Australian kindred were examined and investigated by EMG, imaging studies, histopathology, and genetic analysis.</AbstractText>Affected pati... |
2,337,824 | Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. | To investigate three families and one sporadic case with a recessively inherited ataxic syndrome.</AbstractText>Clinical and genetic studies were performed in six individuals. Southern blotting and real time PCR were used to detect deletions of mtDNA and mutations in the POLG gene were identified using a combination of... |
2,337,825 | Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. | To review the neurologic, neuroradiologic, and electrophysiologic features of autosomal recessive horizontal gaze palsy and progressive scoliosis (HGPPS), a syndrome caused by mutation of the ROBO3 gene on chromosome 11 and associated with defective decussation of certain brainstem neuronal systems.</AbstractText>The a... |
2,337,826 | Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. | Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families.</AbstractText>To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in... |
2,337,827 | Founder haplotype for Machado-Joseph disease in the Indian population: novel insights from history and polymorphism studies. | The ACA haplotype is associated with 72% of the expanded repeats in Machado-Joseph disease (MJD) worldwide and has been traced to a Portuguese ancestry. It is present in only 5% of the normal chromosomes in the Portuguese population.</AbstractText>To trace the origin of expanded alleles of MJD in the Indian population.... |
2,337,828 | Sex differences in clinical and genetic determinants of levodopa peak-dose dyskinesias in Parkinson disease: an exploratory study. | Several factors, both clinical and genetic, may account for the risk of developing levodopa-induced peak-dose dyskinesias (PDD) in patients with Parkinson disease, but it is unclear how these factors interact for modulating the individual susceptibility for PDD.</AbstractText>To examine clinical and genetic risk factor... |
2,337,829 | Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. | Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by attacks of involuntary movements brought on by stress, alcohol, or caffeine, but not by movement. An autosomal dominant form of this disorder was mapped to chromosome 2q33-36, and different missense mutations in exon 1 of the myofibrillogen... |
2,337,830 | Restless legs syndrome: confirmation of linkage to chromosome 12q, genetic heterogeneity, and evidence of complexity. | Genes are involved in the etiology of restless legs syndrome, a common sensorimotor disorder.</AbstractText>To replicate and to further characterize our previously reported chromosome 12q linkage results.</AbstractText>Family linkage study.</AbstractText>A total of 276 individuals from 19 families have been examined us... |
2,337,831 | Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. | Among newly diagnosed breast cancer patients who are at risk for carrying a BRCA1 or BRCA2 mutation, knowledge of mutation status can influence local breast cancer treatment decisions. Thus, genetic testing at the time of diagnosis is increasingly considered an option for such patients. In this study, we evaluated fact... |
2,337,832 | Lives to save lives--the ethics of tissue typing. | Should we allow tissue typing of in vitro embryos in order to implant those which could provide potentially life-saving cells to an existing serious ill sibling with that tissue type? A case is made that such tissue matching does not involve unacceptable instrumentality towards or commodification of children. The key d... |
2,337,833 | Standardization strategy for quantitative PCR in human seminoma and normal testis. | Housekeeping genes are commonly used as endogenous references in quantitative RT-PCR. Ideally these genes are constitutionally expressed by all cell types and do not vary under experimental conditions. Tissues of 9 normal testes and 22 classical pure seminoma were obtained for RNA-extraction. Real-time RT-PCR was used ... |
2,337,834 | HLA-matched embryos selected for siblings requiring haematopoietic stem cell transplantation: a psychological perspective. | Allogeneic haematopoietic stem cell transplantation (HSCT) is a treatment for a number of acquired and congenital diseases. An important factor in the outcome of the treatment is the degree of human leukocyte antigen (HLA) compatibility between patient and donor. HLA identical siblings therefore provide the best chance... |
2,337,835 | Identification of a cryptic lethal mutation in the mouse t(w73) haplotype. | t haplotypes are naturally occurring, variant forms of the t complex on mouse chromosome 17, characterized by the presence of four inversions with respect to wild-type. They harbour mutations causing male sterility, male transmission ratio distortion (TRD) and embryonic lethality. Mice carrying t haplotypes have been f... |
2,337,836 | Genomics, genetic epidemiology, and genomic medicine. | Medical science is on the threshold of unparalleled progress as a result of the advent of genomics and related disciplines. Human genomics, the study of structure, function, and interactions of all genes in the human genome, promises to improve the diagnosis, treatment, and prevention of disease. This opportunity is th... |
2,337,837 | Amphotericin B. | Invasive fungal infections are a major cause of morbidity and mortality in immunodeficient individuals (such as AIDS patients) and in transplant recipients or tumor patients undergoing immunosuppressive chemotherapy. Amphotericin B is one of the oldest, yet most efficient antimycotic agents. However, its usefulness is ... |
2,337,838 | Evaluation and management of renal tumors in the Birt-Hogg-Dubé syndrome. | Herein we describe the evaluation and management of renal tumors in Birt-Hogg-Dubé (BHD), an autosomal dominant disorder predisposing to cutaneous fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax and renal tumors.</AbstractText>A total of 124 affected individuals underwent comprehensive clinical evalua... |
2,337,839 | Bipolar disorder and polymorphisms in the dysbindin gene (DTNBP1). | Several studies support the dysbindin (dystrobrevin binding protein 1) gene (DTNBP1) as a susceptibility gene for schizophrenia. We previously reported that variation at a specific 3-locus haplotype influences susceptibility to schizophrenia in a large United Kingdom (UK) Caucasian case-control sample.</AbstractText>Us... |
2,337,840 | Generation of a human embryonic stem cell line encoding the cystic fibrosis mutation deltaF508, using preimplantation genetic diagnosis. | Human embryonic stem (hES) cells are pluripotent cells isolated from early human embryos. They can be grown in vitro and made to differentiate into many different cell types. These properties have suggested that they may be useful in cell replacement therapy for many degenerative diseases. However, if hES cells could a... |
2,337,841 | Preimplantation genetic diagnosis for aneuploidy screening in repeated implantation failure. | Chromosomal abnormalities are thought to be responsible for implantation failure, and among chromosomal abnormalities in normally developing embryos, aneuploidy is the most frequent. Genetic testing of preimplantation embryos for chromosomal aneuploidy allows selection of chromosomally normal embryos, and early detecti... |
2,337,842 | Clinical application of multiple displacement amplification in preimplantation genetic diagnosis. | Multiple displacement amplification (MDA) is a technique used in the amplification of very small amounts of DNA. MDA is reported to yield large quantities of high-quality DNA. The applicability of MDA to single cells was recently demonstrated as a potential technique for preimplantation genetic diagnosis (PGD). This pa... |
2,337,843 | Ethical consideration of intentioned preimplantation genetic diagnosis to enable future tissue transplantation. | Recently, a case was presented where a couple with one normal child requested preimplantation genetic diagnosis (PGD) with human leukocyte antigen (HLA) typing in order to conceive children who could serve as mutual donors for future transplantations if needed. While PGD for medical reasons is well defined and accepted... |
2,337,844 | Eugenics: some lessons from the past. | Eugenics was first debated by the ancient Greeks, particularly Plato and Aristotle, developed in the nineteenth century by Francis Galton and Charles Darwin, and then abused in the twentieth century by right-wing politicians. With the new methods of assisted conception combined with the use of genetic markers, all the ... |
2,337,845 | Designing babies: what the future holds. | Advances in reproductive technology have opened new opportunities to avoid inherited diseases in offspring. The preimplantation genetic diagnosis (PGD) of human embryos permits those embryos carrying gene disorders or a non-diploid chromosome constitution to be identified. Numerous disease genes including those with a ... |
2,337,846 | Power and sample size calculations in the presence of phenotype errors for case/control genetic association studies. | Phenotype error causes reduction in power to detect genetic association. We present a quantification of phenotype error, also known as diagnostic error, on power and sample size calculations for case-control genetic association studies between a marker locus and a disease phenotype. We consider the classic Pearson chi-... |
2,337,847 | Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study. | RHD blood group alleles with reduced or absent antigen expression are a clinically significant and heterogeneous group.</AbstractText>To detail population genetics data on apparently D- individuals in central Europe, a six-center study was performed with participants from Austria, Germany, Slovenia, Switzerland, and Ru... |
2,337,848 | Family history as a co-factor for adenocarcinoma and squamous cell carcinoma of the uterine cervix: results from two studies conducted in Costa Rica and the United States. | Previous work suggests that cervical cancer may aggregate in families. We evaluated the association between a family history of gynecological tumors and risk of squamous cell and adenocarcinomas of the cervix in 2 studies conducted in Costa Rica and the United States. The Costa Rican study consisted of 2,073 women (85 ... |
2,337,849 | NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms. | Nephrotic syndrome (NS) is the most frequent cause of proteinuria in children and is emerging as a leading cause of uremia. Molecular studies in families with recessive NS have led to the discovery of specialized molecules endowed in podocytes that play a role in proteinuria. This review focalizes the key position of p... |
2,337,850 | Membranes, ions, and clocks: testing the Njus-Sulzman-Hastings model of the circadian oscillator. | Current circadian clock models based on interlocking autoregulatory transcriptional?translational negative feedback loops have arisen out of an explosion of molecular genetic data obtained over the last decade (for review, see Stanewsky, 2003; Young and Kay, 2001). An earlier model of circadian oscillation was based on... |
2,337,851 | Forward genetic screens to identify circadian rhythm mutants in mice. | This article describes the methods and techniques used to produce mutagenized mice to conduct high-throughput forward genetic screens for circadian rhythm mutants in the mouse. In particular, we outline methods to safely prepare and administer the chemical mutagen N-nitroso-N-ethylurea (ENU) to mice. We also discuss th... |
2,337,852 | Circadian genetics in the model higher plant, Arabidopsis thaliana. | In recent decades, most research on the circadian rhythms of higher plants has been driven by molecular genetics. A wide variety of experimental approaches have discovered mutants in the plant circadian clock, yet the screens are far from saturated and there must still be important clock-related genes to identify. Dire... |
2,337,853 | Protistan diversity estimates based on 18S rDNA from seawater incubations in the Western North Atlantic. | Cloning/sequencing and fragment analysis of ribosomal RNA genes (rDNA) are becoming increasingly common methods for the identification of microbial taxa. Sequences of these genes provide many additional taxonomic characters for species that otherwise have few distinctive morphological features, or that require involved... |
2,337,854 | Genetic malformations of the cerebral cortex and epilepsy. | We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. ... |
2,337,855 | Hereditary hemochromatosis: population screening based on phenotype in Brazilian blood donors. | A population of blood donors was screened for hereditary hemochromatosis (HH) based on the phenotype strategy in accordance with the European consensus.</AbstractText>Nonfasting serum samples were obtained from 1,050 donors. Transferrin saturation (TS) was measured using a threshold of 45%. Donors with a TS > or = 4... |
2,337,856 | A comprehensive literature review of haplotyping software and methods for use with unrelated individuals. | Interest in the assignment and frequency analysis of haplotypes in samples of unrelated individuals has increased immeasurably as a result of the emphasis placed on haplotype analyses by, for example, the International HapMap Project and related initiatives. Although there are many available computer programs for haplo... |
2,337,857 | Genetic structure in the coral-reef-associated Banggai cardinalfish, Pterapogon kauderni. | In this study, we used 11 polymorphic microsatellite loci to show that oceanic distances as small as 2-5 km are sufficient to produce high levels of population genetic structure (multilocus F(ST) as high as 0.22) in the Banggai cardinalfish (Pterapogon kauderni), a heavily exploited reef fish lacking a pelagic larval d... |
2,337,858 | Disclosing genetic test results to family members. | To describe the experiences of disclosing genetic test results to biological family members among people tested for Huntington's disease (HD) or hereditary breast and ovarian cancer (HBOC).</AbstractText>Grounded theory methodology.</AbstractText>Open-ended, tape-recorded interviews were conducted with 29 participants-... |
2,337,859 | Grape anaphylaxis: a study of 11 adult onset cases. | Reports of immunoglobulin E (IgE)-mediated allergic reactions to grapes and wine are limited in the literature. Nevertheless, grapes are widely grown and consumed in Mediterranean countries. The object of this prospective study was to present clinical features, in vivo and in vitro allergy testing, and human leukocyte ... |
2,337,860 | Ethics and research assessing the relative roles of genes and the environment. | Research on the interaction of genes and the environment is revealing that many human diseases have both genetic and environmental components. Even traditional "environmental" diseases, such as infections, appear to interact with genetic components in the human host. Environmental genetics research will inevitably incr... |
2,337,861 | Multiplex reverse transcription-polymerase chain reaction combined with on-chip electrophoresis as a rapid screening tool for candidate gene sets. | Combining multiplex reverse transcription-polymerase chain reaction (mRT-PCR) with microfluidic amplicon analysis, we developed an assay for the rapid and reliable semiquantitative expression screening of 11 candidate genes for drug resistance in human malignant melanoma. The functionality of this approach was demonstr... |
2,337,862 | Hematopoietic transplantation for bone marrow failure syndromes and thalassemia. | Several genetic diseases, generally considered as congenital diseases, are characterized by bone marrow failure during early childhood. Hematopoietic stem cell transplantation is the only curative treatment for syndromes involving bone marrow failure and thalassemia. In this slate-of-the-art review, we wish to focus on... |
2,337,863 | Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal. | Primary adrenal insufficiency (PAI) in the pediatric population (0-18 yr) is most commonly attributed to congenital adrenal hyperplasia (CAH), which occurs in about 1 in 15,000 births, followed by Addison's disease, with an assumed autoimmune etiology. However, molecular advances have increased the number of possible d... |
2,337,864 | Maternal hormones as a tool to adjust offspring phenotype in avian species. | Avian eggs contain substantial amounts of maternal hormones and so provide an excellent model to study hormone-mediated maternal effects. We review this new and rapidly evolving field, taking an ecological and evolutionary approach and focusing on effects and function of maternal androgens in offspring development. Man... |
2,337,865 | Reproductive decision making before and after predictive testing for Huntington's disease: an Australian perspective. | A retrospective study examined both pre- and post-result reproductive decision making for 281 people at risk for Huntington's disease aged 18-45 years who had undergone predictive testing in one centre in Australia between 1990 and 2002. Forty-eight per cent of subjects had one or more pre-result pregnancies, and of th... |
2,337,866 | A framework for genetic service provision for haemophilia and other inherited bleeding disorders. | This framework document offers guidance to patients, doctors, nurses, laboratory scientists, funders and hospitals on the provision of clinical and laboratory genetic services for haemophilia. With recent advances in molecular laboratory techniques it is now possible to give the vast majority of individual patients and... |
2,337,867 | Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis. | We report the usefulness of a dinucleotide GT repeat in intron 1 of the factor 8 gene in carrier diagnosis of haemophilia A (HA). We analyzed 47 women from HA families in which the mutation was not identified in the index case and in which the common intragenic polymorphic markers were uninformative. The intron 1 GT re... |
2,337,868 | [Modeling effect of homo- or heterozygosity on animal growth intensity]. | A model has been developed that describes the dependence of a quantitative selective trait on the animal homo- and heterozygosity for the genes that control the biochemical reaction rate (isoenzyme systems). The model includes any cases of gene control of a quantitative trait and is applicable to real, genetically hete... |
2,337,869 | The ethics of pharmacogenomics. | Of the future technologies arising from the Human Genome Project, pharmacogenomics will probably be the first to have a widespread impact on the everyday practice of medicine. This technology offers great benefits but also presents some difficult ethical challenges. This paper explains what pharmacogenomics is and exam... |
2,337,870 | Subtelomere deletions and translocations are frequently familial. | In recent years, strategies have been developed to investigate the possible role of chromosomal subtelomere regions in genetic disorders. The present study was to determine the incidence of familial subtelomeric abnormalities among individuals with developmental delay, idiopathic mental retardation, or non-specific con... |
2,337,871 | Physician exposure to and attitudes toward advertisements for genetic tests for inherited cancer susceptibility. | Commercial marketing materials may serve as a source of information for physicians about genetic testing for inherited cancer susceptibility (GTICS) in addition to medical guidelines, continuing education, and journal articles. The primary purposes of this study were to: (1) determine the percentage of physicians who r... |
2,337,872 | Association of the dopamine transporter (DAT1) 10/10-repeat genotype with ADHD symptoms and response inhibition in a general population sample. | Association between attention-deficit hyperactivity disorder (ADHD) and the 10-repeat allele of the dopamine transporter gene (DAT1) has been reported in independent clinical samples using a categorical clinical definition of ADHD. The present study adopts a quantitative trait loci (QTL) approach to examine the associa... |
2,337,873 | Epigenetic reprogramming in mammals. | Epigenetic marking systems confer stability of gene expression during mammalian development. Genome-wide epigenetic reprogramming occurs at stages when developmental potency of cells changes. At fertilization, the paternal genome exchanges protamines for histones, undergoes DNA demethylation, and acquires histone modif... |
2,337,874 | Multiple cases of striking genetic similarity between alternate electric fish signal morphs in sympatry. | Striking trait polymorphisms are worthy of study in natural populations because they can often shed light on processes of phenotypic divergence and specialization, adaptive evolution, and (in some cases) the early stages of speciation. We examined patterns of genetic variation within and between populations of mormyrid... |
2,337,875 | Dispersal in a parasitic worm and its two hosts: consequence for local adaptation. | Characterizing host and parasite population genetic structure and estimating gene flow among populations is essential for understanding coevolutionary interactions between hosts and parasites. We examined the population genetic structure of the trematode Schistosoma mansoni and its two host species (the definitive host... |
2,337,876 | The psychotherapy of genetics. | The evolution of genomic science and its effect on medicine and health care offer opportunities for family therapists to participate in the comprehensive care of patients and families with genetic disorders. This article provides an overview of what we now know about the psychological and interpersonal experience of pa... |
2,337,877 | Toward a biopsychosocial model for 21st-century genetics. | Advances in genomic research are increasingly identifying genetic components in major health and mental health disorders. This article presents a Family System Genetic Illness model to address the psychosocial challenges of genomic conditions for patients and their families, and to help organize this complex biopsychos... |
2,337,878 | Association analysis of candidate genes for maysin and chlorogenic acid accumulation in maize silks. | Two compounds, the C-glycosyl flavone maysin and the phenylpropanoid product chlorogenic acid (CGA), have been implicated in corn earworm (Helicoverpa zea Boddie) resistance in maize (Zea mays L.). Previous quantitative trait locus (QTL) analyses identified the pericarp color (p) locus, which encodes a transcription fa... |
2,337,879 | The antiepidermal growth factor receptor monoclonal antibody cetuximab/C225 reduces hypoxia-inducible factor-1 alpha, leading to transcriptional inhibition of vascular endothelial growth factor expression. | We have previously shown that the antiepidermal growth factor receptor monoclonal antibody cetuximab (C225; Erbitux), which was recently approved for the treatment of metastatic colorectal cancer, has antiangiogenic properties, inhibiting vascular endothelial growth factor (VEGF) secretion in culture and in animal mode... |
2,337,880 | Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides. | Pathogenic mutations in the mitochondrial genome are associated with a wide variety of maternally inherited human diseases including sensorineural hearing loss (HL). A specific mutation, m.1555A>G in the mitochondrial 12S rRNA gene, is associated with predisposition to aminoglycoside ototoxicity and HL. Mutation scr... |
2,337,881 | Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. | The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other related hamartoma disorders such as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like conditions, are characterised by germline PTEN mutations, and may have neurobehavioural ... |
2,337,882 | Do preclinical testing strategies help predict human hepatotoxic potentials? | Overt hepatotoxicity due to drug administration is a real and present issue in drug development and regulatory circles. Preclinical drug development is intended to identify potential risks and target tissues prior to introduction of new molecular entities into the human population. The standard regimen is testing at va... |
2,337,883 | Lesch-Nyhan Disease. | The first description of Lesch-Nyhan disease was in 1964; the first two patients were seen in 1963. The disease has caught the imagination of a variety of clinicians and scientists. The clinical picture is striking, combining spasticity, involuntary movements, and cognitive retardation with self-injurious behavior and ... |
2,337,884 | Rare mutations at codon 103 of HIV-1 reverse transcriptase can confer resistance to non-nucleoside reverse transcriptase inhibitors. | The K103N mutation in HIV-1 reverse transcriptase (RT) confers high-level resistance to current non-nucleoside reverse transcriptase inhibitors (NNRTI). The prevalence and resistance profile of HIV-1 with other substitutions at RT codon 103 is less well documented.</AbstractText>K103 substitutions among over 70,000 cli... |
2,337,885 | Identification of Panax species in the herbal medicine preparations using gradient PCR method. | In order to identify the existence of Panax species in herbal medicine preparations, the Ginseng specific marker primer was selected and created based on the sequence of Korean ginseng DNA fragment, 359 bp. The gradient PCR was performed on 40 types of the herbal medicines including the 7 types of Araliaceae that are i... |
2,337,886 | The incidental discovery of nonpaternity through genetic carrier screening: an exploration of lay attitudes. | With advances in genetic medicine, paternity is increasingly being determined by genetic rather than social markers. In this article, the author examines the complex nature of paternity and the way in which it has been constructed socially, legally, and medically. She then presents the results from an empirical study o... |
2,337,887 | A general framework for statistical linkage analysis in multivalent tetraploids. | In multivalent polyploids, simultaneous pairings among homologous chromosomes at meiosis result in a unique cytological phenomenon-double reduction. Double reduction casts an impact on chromosome evolution in higher plants, but because of its confounded effect on the pattern of gene cosegregation, it complicates linkag... |
2,337,888 | The gallbladder and biliary tract in cystic fibrosis. | Chronic liver disease is a major complication of cystic fibrosis. Its incidence and severity are variable, and diagnosis relies on a combination of clinical evaluation, biochemical testing, and radiologic assessment. Identifying patients who have early disease is critical, and the administration of ursodeoxycholic acid... |
2,337,889 | Meta-analysis in psychiatric genetics. | The article reviews literature on methods for meta-analysis of genetic linkage and association studies, and summarizes and comments on specific meta-analysis findings for psychiatric disorders. The Genome Scan Meta-Analysis and Multiple Scan Probability methods assess the evidence for linkage across studies. Multiple S... |
2,337,890 | Ebrii gignunt ebrios--One drunkard begets another: the genetics of alcohol dependence. | Family, twin, and adoption studies provide convincing evidence of a genetic contribution to the predisposition to alcohol dependence. Two main molecular genetic approaches, namely linkage and association, have been adopted to identify the genes that underpin that genetic vulnerability. Robust findings have implicated g... |
2,337,891 | Accurate genetic testing platform based on haploid templates: Use in inheritable colon cancer. | Extract: The misfortune of individuals having inherited a genetic mutation that predisposes them to cancer can become a weapon for their better management of the disease and the rest of their family members. This is what the promise of genetic testing is: to reduce the mortality and morbidity through screening, and hop... |
2,337,892 | Evaluation of peripheral neuropathy. Part III: vasculitic, infectious, inherited, and idiopathic neuropathies. | In this, the third of a 3-part series on peripheral neuropathy, the syndromes of vasculitic, infectious, inherited, and idiopathic neuropathy are discussed. Vasculitis is a frequent cause of neuropathy in the setting of a connective tissue disease. The infectious neuropathies most likely to be encountered in the United... |
2,337,893 | Genetic factors in pancreatitis. | The understanding of pathogenesis of acute and chronic pancreatitis has benefited from the progress made in genetic investigations. The discoveries of the gain of function mutations of cationic trypsinogen gene (PRSS1) and the loss of function mutations of pancreatic secretory trypsin inhibitor (SPINK 1) or other poten... |
2,337,894 | Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. | Mutations of the human desmin gene on chromosome 2q35 cause a familial or sporadic form of skeletal myopathy frequently associated with cardiac abnormalities. Here, we report the pathogenic effects of a novel heterozygous R350P desmin missense mutation, which resides in the evolutionary highly conserved coil 2B domain ... |
2,337,895 | Low effective population size and evidence for inbreeding in an overexploited flatfish, plaice (Pleuronectes platessa L.). | Overexploitation and subsequent collapses of major worldwide fisheries has made it clear that marine stocks are no inexhaustible. Unfortunately, the perception remains that marine fished are resilient to large population reductions, as even a commercially 'collapsed' stock will still consist of millions of individuals.... |
2,337,896 | Molecular analysis of the NDP gene in two families with Norrie disease. | To describe the molecular defects in the Norrie disease protein (NDP) gene in two families with Norrie disease (ND).</AbstractText>We analysed two families with ND at molecular level through polymerase chain reaction, DNA sequence analysis and GeneScan.</AbstractText>Two molecular defects found in the NDP gene were: a ... |
2,337,897 | Developments in infertility therapy--diagnosis of genetic disease in embryos. | The general practitioner plays a vital role in assisting couples through the difficult and emotional field of assisted reproductive techniques including in vitro fertilisation (IVF).</AbstractText>This article discusses the most recent developments in IVF so that GPs may better explain this ever changing field of medic... |
2,337,898 | The ART of assisted reproductive technology. | One in six Australian couples of reproductive age experience difficulties in conceiving a child. Once a couple has been appropriately assessed, assisted reproductive technology (ART) techniques can be used to overcome problems with ovulation, tubal patency, male fertility or unexplained infertility.</AbstractText>This ... |
2,337,899 | Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil. | The Brazilian population has been the focus of intensive genetic study due to admixture characteristics whereas there are few reports on the variability of VNTR loci in Brazil.</AbstractText>The aim of this study was to analyse genetic parameters in sample populations from two geographically distant regions: São L... |
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