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2,337,700 | [Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results]. | Proximal spinal muscular atrophy of childhood and adolescence (SMA) is a genetic autosomal recessive disease. Caused in 96.5% by deletion in the SMN1 gene. Owing to the homogeneity of the molecular defect. Secondary prophylaxis can readily be offered to families at risk of SMA.</AbstractText>Prenatal diagnosis of SMA w... |
2,337,701 | Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum. | Characterization of CFTR mutations in the U.S. Hispanic population is vital to early diagnosis, genetic counseling, patient-specific treatment, and the understanding of cystic fibrosis (CF) pathogenesis. The mutation spectrum in Hispanics, however, remains poorly defined. A group of 257 self-identified Hispanics with c... |
2,337,702 | A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics. | The lack of readily available, patient-derived materials for molecular genetic testing of many heterozygous or rare disorders creates a major impediment for laboratory proficiency and quality control procedures. The paucity of clinically derived mutation-positive samples could be surmounted if it were possible to const... |
2,337,703 | Long polymerase chain reaction-based fluorescence in situ hybridization analysis of female carriers of X-linked chronic granulomatous disease deletions. | Chronic granulomatous disease (CGD) is a rare inherited disorder in which antimicrobial activity of phagocytes is impaired due to the lack of reactive oxygen species, or oxidative burst, produced by NADPH oxidase. The X-linked form of CGD, representing approximately 70% of all cases, is caused by mutations in the cytoc... |
2,337,704 | Isolation and characterization of a rice mutant hypersensitive to Al. | Rice (Oryza sativa L.) is a highly Al-resistant species among small grain crops, but the mechanism responsible for the high Al resistance has not been elucidated. In this study, rice mutants sensitive to Al were isolated from M(3) lines derived from an Al-resistant cultivar, Koshihikari, irradiated with gamma-rays. Rel... |
2,337,705 | Effects of AAV-2-mediated aspartoacylase gene transfer in the tremor rat model of Canavan disease. | The tremor rat is a spontaneous epilepsy model with a seizure phenotype caused by a deletion in the aspartoacylase (ASPA) gene. The absence of ASPA expression in these animals results in undetectable levels of enzyme activity and the accumulation of the substrate N-acetyl-aspartate (NAA) in brain, leading to generalize... |
2,337,706 | Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. | Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict the candidate regions related to metopic suture fusion, we studied 76 unrelated patients with s... |
2,337,707 | Communication about genetic testing in families of male BRCA1/2 carriers and non-carriers: patterns, priorities and problems. | This qualitative interview study explored the way in which information about predictive BRCA1/2 testing and its implications for children is disseminated within the families of at-risk men who undergo genetic testing. Twenty-nine in-depth interviews were carried out with family members [male patients (n = 17), their pa... |
2,337,708 | Psychological and genetic counseling implications for adolescent daughters of mothers with breast cancer. | Adolescent daughters of women with breast cancer (BC) are themselves at risk for heritable BC. Although some preliminary evidence suggests this group is at an increased risk for emotional problems, evidence is limited to studies with small samples and no comparison groups. This study examined psychological and family f... |
2,337,709 | Demented flies? Using Drosophila to model human neurodegenerative diseases. | The success of biomedical research in the past few decades has led to dramatic improvements in human health and, as a result, increased life expectancy. An unexpected consequence, however, has been an increase in the number of age-related diseases and, in particular, neurodegenerative diseases. Despite their prevalence... |
2,337,710 | DNA-based genetic testing is rising steeply in a national health care system with open access to services: a survey of genetic test use in Germany, 1996-2002. | The extent to which the fast-growing body of genetic knowledge is transferred into everyday clinical practice has nowhere been assessed in a systematic way. Available quantitative analyses of DNA-based genetic test provision and uptake rates are all concerned with specific test programs. The German health-care system i... |
2,337,711 | Risk assessment for inherited susceptibility to cancer: a review of the psychosocial and ethical dimensions. | The objective of this study was to conduct a broad-based systematic review of social, ethical, and legal considerations associated with genetic cancer risk assessment technologies (CaRATs). This paper focuses on psychosocial and ethical issues. Search results were limited to papers published in English, French, or Germ... |
2,337,712 | Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. | This study evaluated illness representations, distress, and health-related behavior one year after disclosure of a predictive genetic test result for hereditary nonpolyposis colorectal cancer (HNPCC) in 36 carriers and 36 noncarriers. Post-test, no significant differences between carriers and noncarriers were found in ... |
2,337,713 | Knowledge, attitudes, and utilization of BRCA1/2 testing among women with early-onset breast cancer. | A total of 2,400 questionnaires were mailed to members of two mid-Atlantic breast cancer awareness/support groups to investigate the association between attitudes, knowledge, and use of BRCA1/2 testing among women with early-onset breast cancer. Of the 493 (21%) questionnaires returned, 406 respondents had a diagnosis ... |
2,337,714 | Automatic scanning of interphase FISH for prenatal diagnosis in uncultured amniocytes. | Fluorescence in situ hybridization (FISH) of uncultured amniocytes using chromosome-specific DNA probes offers the opportunity for rapid aneuploidy screening. Between 80 and 95% of all chromosomal disorders expected in the second trimester of pregnancy can be discovered within 24 hr if DNA probes specific for chromosom... |
2,337,715 | APC germ-line mutations in southern Spanish patients with familial adenomatous polyposis: genotype-phenotype correlations and identification of eight novel mutations. | Familial adenomatous polyposis (FAP) is a disease characterized by the presence of hundreds of adenomatous polyps in the colon and rectum which, if not treated, develop into colorectal cancer. FAP is an autosomal dominantly inherited disorder caused by mutation in the APC gene. The aim of this study was to search for g... |
2,337,716 | Facioscapulohumeral muscular dystrophy type 1A in northwestern Tuscany: a molecular genetics-based epidemiological and genotype-phenotype study. | Facioscapulohumeral muscular dystrophy type 1A (FSHD1A) is an autosomal dominant inherited disorder characterized by early involvement of facial and scapular muscles with eventual spreading to pelvic and lower limb muscles. A high degree of clinical variability with respect to age at onset, severity, and pattern of mus... |
2,337,717 | Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype. | Correlation between genotype and phenotype in Gaucher disease is limited. It is known that the most common mutation N370S is protective of neurological involvement, but for the V394L mutation, described as the fifth most common among Ashkenazi Jews, little data are available. This study reports all known patients from ... |
2,337,718 | The 35delG mutation in the connexin 26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. | The 35delG mutation in the connexin 26 gene (GJB2) at the DFNB1 locus represents the most common mutation in Caucasian patients with genetic sensorineural deafness. This new meta-analysis concerns published carrier frequencies of the 35delG mutation in 27 populations for 6,628 unrelated individuals in Europe and in the... |
2,337,719 | Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. | Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to the development of bilateral vestibular schwannomas (sometimes associated with schwannomas at other locations), meningiomas, and ependymomas. Point mutations that inactivate the NF2 tumor suppressor gene, located in 22q12, have been fo... |
2,337,720 | Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. | The assessment of allelic variants in the human mannose-binding lectin 2 (MBL2) gene is of great clinical importance in newborns or immune-suppressed patients at high risk for a variety of infections. Here, we present a study on the genotyping accuracy of a DNA microarray-based on-chip PCR method suited for the detecti... |
2,337,721 | [Pharmacogenetics in future medical care -- implications for patients and physicians]. | Since public acceptance of pharmacogenetic testing will largely influence their implementation in routine medical care, common implications of pharmacogenetic testing from patients', physicians' and scientists' perspective are reviewed.</AbstractText>Broad literature review (MEDLINE; MeSH terms: Pharmacogenetics, Deliv... |
2,337,722 | Small molecule and monoclonal antibody therapies in neurooncology. | The prognosis for most patients with primary brain tumors remains poor. Recent advances in molecular and cell biology have led to a greater understanding of molecular alterations in brain tumors. These advances are being translated into new therapies that will hopefully improve the prognosis for patients with brain tum... |
2,337,723 | The RB protein family in retinal development and retinoblastoma: new insights from new mouse models. | The Rb gene was isolated almost 20 years ago, but fundamental questions regarding its role in retinal development and retinoblastoma remain. What is the normal function of RB protein in retinogenesis? What is the cell-of-origin of retinoblastoma? Why do retinoblastoma tumors have recurrent genetic lesions other than Rb... |
2,337,724 | Dual targeting of topoisomerase IV and gyrase to reduce mutant selection: direct testing of the paradigm by using WCK-1734, a new fluoroquinolone, and ciprofloxacin. | Quinolones that act equally against DNA gyrase and topoisomerase IV are a desirable modality to decrease the selection of resistant strains. We first determined by genetic and biochemical studies in Staphylococcus aureus that the primary target enzyme of WCK-1734, a new quinolone, was DNA gyrase. A single mutation in g... |
2,337,725 | Factor V Leiden and its effect on children with cardiac pathology. | Factor V Leiden thrombophilia, formed by a genetic mutation, slows the body's anticoagulation response to clot formation. First described in 1994, factor V Leiden mutation has been identified as a contributing risk factor for venous thromboembolism. Although venous thromboembolism is considered rare in the pediatric po... |
2,337,726 | Accuracy of revised Bethesda guidelines, microsatellite instability, and immunohistochemistry for the identification of patients with hereditary nonpolyposis colorectal cancer. | The selection of individuals for hereditary nonpolyposis colorectal cancer (HNPCC) genetic testing is challenging. Recently, the National Cancer Institute outlined a new set of recommendations, the revised Bethesda guidelines, for the identification of individuals with HNPCC who should be tested for microsatellite inst... |
2,337,727 | Oligonucleotide microarray for HLA-DRB1 genotyping: preparation and clinical evaluation. | In this study, HLA-DRB1 gene was genotyped by using the microarray technique. Oligonucleotide probes were designed based on partial sequences of various genotypes of HLA-DRB1, and were fixed on a silylated slide to form a microarray. The second exon of HLA-DRB1 gene in the extracted genomic DNA samples was amplified an... |
2,337,728 | High-resolution genotyping of HLA-DQA1 in the GoKinD study and identification of novel alleles HLA-DQA1*040102, HLA-DQA1*0402 and HLA-DQA1*0404. | In order to achieve high-resolution HLA-DQA1 genotyping, it is necessary to identify polymorphisms in exons 1, 2 and 3. We present a high-resolution sequence-based typing (SBT) strategy for genotyping exons 1, 2 and 3 of the polymorphic HLA-DQA1 locus. This method is an improvement upon previously presented methods, be... |
2,337,729 | HIV vaccine rationale, design and testing. | A central obstacle to the design of a global HIV vaccine is viral diversity. Antigenic differences in envelope proteins result in distinct HIV serotypes, operationally defined such that antibodies raised against envelope molecules from one serotype will not bind envelope molecules from a different serotype. The existen... |
2,337,730 | Molecular biology of channelopathies: impact on diagnosis and treatment. | Channelopathies are genetically determined ion channel alterations that lead to acute and transient symptoms in subjects who otherwise appear to be normal. This article reviews the recent progression of biomolecular studies that have clarified the mechanisms by which gene mutations may result in alterations of excitabl... |
2,337,731 | The impact of genomics on E-health. | The Human Genome Project (HGP) and e-Health are two fundamental changes that will alter the way we approach human health and life. These two scientific and societal forces will inevitably impact each other. This paper not only explores the ways that the HGP will change health care but also investigates the ways that e-... |
2,337,732 | Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. | Birt-Hogg-Dubé syndrome (BHD), a genodermatosis characterized by multiple hamartomas of the hair follicle (fibrofolliculoma), predisposes individuals to an increased risk of developing renal neoplasms and spontaneous pneumothorax. Previously, we localized the BHD locus (also known as FLCN) to chromosome 17p11.2 by... |
2,337,733 | A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy. | Spinal and bulbar muscular atrophy (SBMA) is an X-linked, late-onset neuroendocrine disorder resulting from an expansion of a CAG repeat in the androgen receptor gene. Reported here is a detailed phenotypic study in a series of seven patients from the same family with SBMA with 50 to 54 CAG repeats, juvenile onset (mea... |
2,337,734 | A novel mutation (G114V) in the prion protein gene in a family with inherited prion disease. | Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). We report a novel missense mutation in the PRNP gene (resulting in a G114V mutation in PrP) in members of a Uruguayan family with clinical and histopathologic features of prion disease. Affected individuals were c... |
2,337,735 | EGFR tyrosine kinase domain mutations in human gliomas. | Gefitinib is an epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor effective in patients with lung cancer with mutations in exons 19 and 21 of the EGFR tyrosine kinase domain. In this study, the authors tested the presence of such mutations in 95 gliomas including glioblastomas, anaplastic oligodendrogli... |
2,337,736 | Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. | Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening. Milder, later onset variants have been reported but were usually sporadic and incompletely defined.</AbstractText>To determine the clinical and biochemical phenotype and molecular basis of mild GE in nine children from a consanguine... |
2,337,737 | Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. | To determine the frequency of mutations in IMPDH1 among patients with autosomal dominant retinitis pigmentosa (RP), to characterize the clinical features of patients with the Asp226Asn mutation in this gene, and to compare these features with those found among patients with selected dominant mutations in other RP genes... |
2,337,738 | Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. | Half of the cases with congenital impaired hearing are hereditary (HIH). HIH may occur as part of a multisystem disease (syndromic HIH) or as disorder restricted to the ear and vestibular system (nonsyndromic HIH). Since nonsyndromic HIH is almost exclusively caused by cochlear defects, affected patients suffer from se... |
2,337,739 | XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. | X-linked mental retardation (XLMR) is the leading cause of mental retardation in males. Mutations in the ARX gene in Xp22.1 have been found in numerous families with both nonsyndromic and syndromic XLMR. The most frequent mutation in this gene is a 24 bp duplication in exon 2. Based on this fact, a panel of XLMR famili... |
2,337,740 | Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. | A child in the community of Laramie, Wyoming was born with Osteogenesis Imperfecta which is a genetic disorder that limits the physical abilities, size, and strength of the child. A customized power assisted tricycle was developed, which offered a unique opportunity to serve multiple purposes in his childhood developme... |
2,337,741 | Statistical analysis of microarray data. | Microarrays promise dynamic snapshots of cell activity, but microarray results are unfortunately not straightforward to interpret. This article aims to distill the most useful practical results from the vast body of literature available on microarray data analysis. Topics covered include: experimental design issues, no... |
2,337,742 | Molecular genetics of familial renal cell carcinoma syndromes. | RCC represents a group of clinically and genetically diverse diseases. Familial RCC syndromes, although rare, provide an invaluable model to study the molecular mechanisms of renal carcinogenesis. Many causative oncogenes and tumor suppressor genes have been identified and it is now possible to identify the affected in... |
2,337,743 | Effect of cytokines and chemokines (TGF-beta, TNF-alpha, IL-6, IL-10, MCP-1, RANTES) gene polymorphisms in kidney recipients on posttransplantation outcome: influence of donor-recipient match. | Posttransplantation alloantigen-dependent and alloantigen-independent processes are both mediated by cytokines and chemokines. Recently cytokines and chemokines, as well as their receptors, have been shown to be highly polymorphic. The cytokine and chemokine gene polymorphisms are associated with variable production, a... |
2,337,744 | Genetic dissection of the zebrafish retinal stem-cell compartment. | In a large-scale forward-genetic screen, we discovered that a limited number of genes are required for the regulation of retinal stem cells after embryogenesis in zebrafish. In 18 mutants out of almost 2000 F2 families screened, the eye undergoes normal embryonic development, but fails to continue growth from the cilia... |
2,337,745 | Expression mapping using a retroviral vector for CD8+ T cell epitopes: definition of a Mycobacterium tuberculosis peptide presented by H2-Dd. | Identification of CD8+ T cell epitopes is important because detection of specific CD8+ T cells after infection or immunization requires prior knowledge of epitope specificity. Furthermore, identification of CD8+ T cell epitopes permits the development of specific preventive and therapeutic approaches to both infections... |
2,337,746 | Molecular basis for para-Bombay phenotypes in Chinese persons, including a novel nonfunctional FUT1 allele. | The para-Bombay phenotype is characterized by H-deficient or H-partially deficient red blood cells (RBCs) in persons who secrete ABH antigens in their saliva. The studies that determined the genotypes for two Chinese individuals with the para-Bombay phenotype are described.</AbstractText>RBC phenotypes were characteriz... |
2,337,747 | A factorial experiment for optimizing the PCR conditions in routine genotyping. | Although most PCRs would produce proper PCR products when first tried, a general optimization is required to yield the best results. This optimization is often achieved by changing one factor at a time. However, this may lead to suboptimal results, since interactions between conditions are difficult to detect with this... |
2,337,748 | The MELISSA pilot plant facility as as integration test-bed for advanced life support systems. | The different advances in the Micro Ecological Life Support System Alternative project (MELISSA), fostered and coordinated by the European Space Agency, as well as in other associated technologies, are integrated and demonstrated in the MELISSA Pilot Plant laboratory. During the first period of operation, the definitio... |
2,337,749 | Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. | Many rearrangement mutations in the BRCA1 gene have been identified. It is becoming clear that some of these mutations are prevalent, and therefore their detection is necessary in order for clinical genetic tests to have high sensitivity. Published information on particular rearrangements is frequently limited to a sin... |
2,337,750 | Human leukocyte antigen matching in unrelated donor hematopoietic cell transplantation. | Hematopoietic cell transplantation (HCT) from unrelated donors is a curative therapy for many malignant and nonmalignant blood disorders. The success of unrelated HCT is influenced by the degree of human leukocyte antigen (HLA) compatibility between the donor and patient. When donor matching for HLA alleles is feasible... |
2,337,751 | Screening candidate genes for mutations in patients with hypogonadotropic hypogonadism using custom genome resequencing microarrays. | The purpose of this study was to determine the consistency of calling single nucleotide polymorphisms (SNPs) by custom genome resequencing microarrays compared with capillary DNA sequencing.</AbstractText>Amplified genomic DNA from 23 patients with hypogonadotropic hypogonadism was hybridized to microarrays containing ... |
2,337,752 | Analysis of double-stranded RNA-induced apoptosis pathways using interferon-response noninducible small interfering RNA expression vector library. | We have developed an original vector library that allowed us to exploit the phenomenon of RNA interference but also allowed us to avoid the confounding effects of the interferon response. In the present work, we used our library of small interfering RNA expression vectors to examine the genes involved in apoptosis that... |
2,337,753 | Sleep-wake states in transgenic mouse models overexpressing the human beta-amyloid precursor protein. | Studies testing the amyloid hypothesis and recent advances in mouse molecular genetic technologies have played a critical role in improving our understanding of Alzheimer's disease (AD). Mouse models of AD currently available show only some of the characteristic neuropathology in human AD. Studies have demonstrated, ho... |
2,337,754 | Clinico-pathologic findings in medullary cystic kidney disease type 2. | Medullary cystic kidney disease type 2 is an uncommon autosomal dominant condition characterized by juvenile onset hyperuricemia, precocious gout and chronic renal failure progressing to end-stage renal disease in the 4th through 7th decades of life. A family suffering from this condition is described. The patient in t... |
2,337,755 | Induction and inhibition of the Th2 phenotype spread: implications for childhood asthma. | The interactions between genetic and environmental factors play a major role in the development of childhood asthma. We hypothesized that a pre-existing Th2/asthmatic response can promote Th2 responses to newly encountered Ags (i.e., phenotype spread). To test this hypothesis, we developed a mouse model in which the re... |
2,337,756 | [Identification of PCR markers associated with cytoplasmic male sterility in Brassica oleracea var Botrytis]. | The homology-based candidate gene method was used to identified the specific PCR markers linked to cytoplasmic male sterility (CMS) in cauliflower( Brassica oleracea var botrytis.). Searching the DNA and protein data-base of NCBI , correlative genes or open reading frames were identified . Analysis of biosoft, based on... |
2,337,757 | [A family history of congenital fibrosis of the extraocular muscle with autosomal dominant inheritance]. | To discover novel disease genes, a family with congenital fibrosis of the extraocular muscle was studied by a follow-up investigation, eye examinations and histo-pathological examination. There were fifteen cases suffering from congenital general fibrosis syndrome in four generations. They have congenital blepharoptosi... |
2,337,758 | An autosomal genomic screen for dementia in an extended Amish family. | Apolipoprotein E (APOE) is the only universally confirmed susceptibility gene for late-onset Alzheimer disease (LOAD), although many loci are believed to modulate LOAD risk. The genetic homogeneity of isolated populations, such as the Amish, potentially provide increased power to identify LOAD susceptibility genes. Pop... |
2,337,759 | [Mutation detection of mismatch repair genes in hereditary nonpolyposis colorectal cancer by denaturing high-performance liquid chromatography]. | To establish DHPLC method in detecting mutations of mismatch repair genes, hMLH1 and hMSH2, and to identify germline mutations of hMLH1 and hMSH2 in HNPCC kindreds fulfilling Chinese HNPCC criteria.</AbstractText>Fourteen peripheral blood DNA samples from 14 unrelated HNPCC probands fulfilling Chinese HNPCC criteria we... |
2,337,760 | Adenomas in young patients: what is the optimal evaluation? | Colorectal adenomas are a known risk factor for colorectal cancer. The prevalence of colorectal adenomas among individuals under age 40 and the clinical implications of finding a single adenoma in a young individual have not been defined. Until the most recent revision of the Bethesda Guidelines, having one or more ade... |
2,337,761 | Low rate of microsatellite instability in young patients with adenomas: reassessing the Bethesda guidelines. | Screening adenomas for microsatellite instability (MSI) in patients younger than 40 yr of age has been recommended by the Bethesda Guidelines as a means of identifying patients at risk for hereditary nonpolyposis colorectal cancer (HNPCC). We sought to determine the rate of MSI in adenomas removed from individuals unde... |
2,337,762 | DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis. | To develop a reliable method to isolate fetal cells for genetic diagnosis.</AbstractText>Aspiration of cervical mucus from pregnant women in the first trimester.</AbstractText>Pregnant women were recruited before an elective termination of pregnancy.</AbstractText>Sixty pregnant women (7-10 weeks of gestation).</Abstra... |
2,337,763 | Genetics and assisted reproduction technology. | In the past 20 years, a significant improvement has been shown in the treatment for infertility in both women and men through the development of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Only donated sperm could be previously used for treatment; now oocytes can also be donated. Furthermo... |
2,337,764 | External quality assurance of DNA testing for thrombophilia mutations. | Because of the potential implications of results of genetic analyses of thrombophilic mutations, laboratories must undertake stringent internal quality control measures and participate in external quality assurance (QA) programs. A small number of external QA surveys of thrombophilic defects have been conducted across ... |
2,337,765 | Connexin mutation testing of children with nonsyndromic, autosomal recessive sensorineural hearing loss. | The etiology of hearing loss is heterogeneous and falls into the two broad categories of genetic and environmental. In the genetic subgroup, 70% are non syndromic. Fifty percent of nonsyndromic sensorineural deafness is due to a mutation in the connexin 26 gene. This article presents the detection rate of connexin muta... |
2,337,766 | Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations. | We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. We also analyzed 19 unrelated patients presenting with an HSP... |
2,337,767 | Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene. | Cystic fibrosis (CF) is mainly caused by small molecular lesions of the CFTR gene; mutation detection methods based on conventional PCR do not allow the identification of all CF alleles in a population and large deletions may account for a number of these unidentified molecular lesions. It is only recently that the ava... |
2,337,768 | Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR). | Fifty to eighty percent of Rett syndrome (RTT) cases have point mutations in the gene encoding methyl-CpG-binding protein-2 (MECP2). A fraction of MECP2 negative classical RTT patients has large heterozygous deletions. Robust Dosage PCR (RD-PCR) assays were developed as a rapid, convenient and accurate method to detect... |
2,337,769 | Complete, gene-specific siRNA libraries: production and expression in mammalian cells. | Short interfering RNAs (siRNAs) are widely used to silence the expression of specific genes. Current practice for designing effective siRNAs is to use algorithms based on sequence-efficacy correlations; however, there are many highly effective sequences that these algorithms do not anticipate. To ensure that the best s... |
2,337,770 | Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. | Despite the importance of mutation in genetics, there are virtually no experimental data on the occurrence of specific nucleotide substitutions in human gametes. C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occu... |
2,337,771 | Do we need genomic research for the prevention of common diseases with environmental causes? | Concerns have been raised about the value of genomic research for prevention and public health, especially for complex diseases with risk factors that are amenable to environmental modification. Given that gene-environment interactions underlie almost all human diseases, the public health significance of genomic resear... |
2,337,772 | [Rapid genetic screening of Leber's hereditary optic neuropathy with mtDNA G11778A mutation by AS-PCR with whole blood]. | Rapid Genetic Screening of Leber's hereditary optic neuropathy (LHON) with mtDNA G11778A mutation by allele-specific polymerase chain reaction (AS-PCR) with whole blood.</AbstractText>Whole blood with anticoagulant was used as a template of AS-PCR for the analysis of LHON with mtDNA G11778A point mutation. The amplifie... |
2,337,773 | Gene delivery to embryonic stem cells. | Since the establishment of embryonic stem (ES) cells and the identification of tissue-specific stem cells, researchers have made great strides in the analysis of the natural biology of such stem cells for the development of therapeutic applications. Specifically, ES cells are capable of differentiating into all of the ... |
2,337,774 | Association between the TRAX/DISC locus and both bipolar disorder and schizophrenia in the Scottish population. | The Translin-associated factor X/Disrupted in Schizophrenia 1 (TRAX/DISC) region was first implicated as a susceptibility locus for schizophrenia by analysis of a large Scottish family in which a t(1;11) translocation cosegregates with schizophrenia, bipolar disorder and recurrent major depression. We now report eviden... |
2,337,775 | Successful unmanipulated haploidentical bone marrow transplantation from an HLA 2-locus-mismatched mother for Wiskott-Aldrich syndrome after unrelated cord blood stem cell transplantation. | The authors describe a boy with Wiskott-Aldrich syndrome (WAS) who was diagnosed immediately after birth using flow cytometric and genetic analysis. At 1 year of age he received unrelated cord blood stem cell transplantation (UCBSCT); however, the sex chromosomes of the peripheral blood mononuclear cells showed that th... |
2,337,776 | Estimating haplotype relative risks on human survival in population-based association studies. | Association-based linkage disequilibrium (LD) mapping is an increasingly important tool for localizing genes that show potential influence on human aging and longevity. As haplotypes contain more LD information than single markers, a haplotype-based LD approach can have increased power in detecting associations as well... |
2,337,777 | Simultaneous classification and feature clustering using discriminant vector quantization with applications to microarray data analysis. | In many applications of supervised learning, automatic feature clustering is often desirable for a better understanding of the interaction among the various features as well as the interplay between the features and the class labels. In addition, for high dimensional data sets, feature clustering has the potential for ... |
2,337,778 | A literature based method for identifying gene-disease connections. | We present a statistical method that can swiftly identify, from the literature, sets of genes known to be associated with given diseases. It offers a comprehensive way to treat alias symbols, a statistical method for computing the relevance of the gene to the query, and a novel way to disambiguate gene symbols from oth... |
2,337,779 | VTE Risk assessment - a prognostic Model: BATER Cohort Study of young women. | BACKGROUND: Community-based cohort studies are not available that evaluated the predictive power of both clinical and genetic risk factors for venous thromboembolism (VTE). There is, however, clinical need to forecast the likelihood of future occurrence of VTE, at least qualitatively, to support decisions about intensi... |
2,337,780 | Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. | Lhermitte-Duclos disease (LDD) is a rare cerebellar tumor associated with Cowden disease (CD) and germline mutations in the PTEN gene. To further define these relationships, we reviewed clinical and pathologic findings in 31 LDD cases and analyzed the status of the PTEN pathway in 11 of them. We hypothesized that the g... |
2,337,781 | Rethinking the 'right not to know'. | The idea that an individual has a 'right not to know' genetic information about himself or herself is entrenched in both the policy sphere and the genetic counselling ethos. In this paper, I interrogate this idea of a 'right not to know', questioning particularly its status as a right. I identify the conception of righ... |
2,337,782 | Association testing with Mendel. | This report presents an overview of association testing strategies from a user's perspective, with particular attention to the capabilities of the computer program Mendel. Association testing is driven by the nature of the study sample, the nature of the disease trait, and the kind of markers employed. The practicing s... |
2,337,783 | Recommendations for animal DNA forensic and identity testing. | Genetic analysis in animals has been used for many applications, such as kinship analysis, for determining the sire of an offspring when a female has been exposed to multiple males, determining parentage when an animal switches offspring with another dam, extended lineage reconstruction, estimating inbreeding, identifi... |
2,337,784 | The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. | Hepatic veno-occlusive disease (HVOD) is a serious complication of hematopoietic stem cell transplantation (HSCT). Since the liver is a major site of iron deposition in HFE-associated hemochromatosis, and iron has oxidative toxicity, we hypothesized that HFE genotype might influence the risk of HVOD after myeloablative... |
2,337,785 | Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results. | Genotyping 37,026 individuals as part of a thrombophilia evaluation, we determined and analyzed the genotypic frequencies of the 677CT and 1298AC mutations in the methylenetetrahydrofolate reductase (MTHFR) gene.</AbstractText>The 677CT and 1298AC mutations in the MTHFR gene were determined by either a laboratory-devel... |
2,337,786 | Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. | Genome-wide telomere screening by fluorescence in situ hybridization (FISH) has revealed that approximately 6% of unexplained mental retardation is due to submicroscopic telomere imbalances. However, the use of FISH for telomere screening is labor intensive and time consuming, given that 41 telomeres are interrogated. ... |
2,337,787 | Fragile X syndrome carrier screening in the prenatal genetic counseling setting. | To document our experience with fragile X carrier screening.</AbstractText>In this study, 29,103 women with no known or suspected family history of fragile X syndrome were offered fragile X carrier screening during their prenatal genetic counseling visit. Screening acceptance was analyzed by referral indication, carrie... |
2,337,788 | What's the message? Interpretation of an uninformative BRCA1/2 test result for women at risk of familial breast cancer. | To test the "false-reassurance hypothesis," which suggests that women who receive an uninformative BRCA1/2 test result may incorrectly conclude that they no longer have an elevated risk, with possible harmful consequences for adherence to breast surveillance guidelines.</AbstractText>A prospective questionnaire design ... |
2,337,789 | Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer. | To evaluate attitudes about the benefits, limitations, and risks of genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations and explore testing intentions in African American women at increased risk for hereditary breast cancer.</AbstractText>Attitudes and intentions were evaluated by telephone in African American wome... |
2,337,790 | Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. | Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic testing will likely exceed the availability of counselors trained in this area. We compared the effectiveness of counseling alone versus counseling preceded by u... |
2,337,791 | Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patients. | Familial Adenomatous Polyposis (FAP) is caused by germline mutations in the APC (Adenomatous Polyposis Coli) gene. The vast majority of APC mutations are point mutations or small insertions/deletions which lead to truncated protein products. Splicing mutations or gross genomic rearrangements are less common inactivatin... |
2,337,792 | Molecular diagnostics by microelectronic microchips. | Molecular diagnostics is being revolutionized by the development of highly advanced technologies for DNA and RNA testing. One of the most important challenges is the integration of microelectronics to microchip-based nucleic acid technologies. The specific characteristics of these microsystems make the miniaturization ... |
2,337,793 | Evidence-based prenatal care: Part I. General prenatal care and counseling issues. | Effective prenatal care should integrate the best available evidence into a model of shared decision making. Pregnant women should be counseled about the risks of smoking and alcohol and drug use. Structured educational programs to promote breastfeeding are effective. Routine fetal heart auscultation, urinalysis, and a... |
2,337,794 | Therapeutic potential of insulin-like growth factor-1 in patients with diabetes mellitus. | Insulin-like growth factor-1 (IGF-1) and its receptors share considerable homology with insulin and insulin receptors, and their respective signaling pathways interact at the post receptor level. While the growth hormone (GH)-IGF-1 axis principally regulates tissue growth and differentiation, insulin exerts it primary ... |
2,337,795 | Evolutionary innovation in the vertebrate jaw: A derived morphology in anuran tadpoles and its possible developmental origin. | The mouthparts of anuran tadpoles are highly derived compared to those of caecilians or salamanders. The suprarostral cartilages support the tadpole's upper beak; the infrarostral cartilages support the lower beak. Both supra- and infrarostral cartilages are absent in other vertebrates. These differences reflect the ev... |
2,337,796 | Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers. | Following cystic fibrosis (CF) neonatal screening implementation, a high frequency of heterozygotes has been reported among neonates with elevated immunoreactive trypsinogen (IRT) and normal sweat chloride levels. We studied the relationship between normal IRT values and CF heterozygosity: 10,000 neonates were screened... |
2,337,797 | Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method. | Various types of complex genetic rearrangements involving the iduronate-2-sulfatase (IDS) and its homologous pseudogene (IDS2, IDSP1) have so far been reported as the cause of Mucopolysaccharidosis type II (MPS2 or MPS II; Hunter syndrome). When using conventional mutational analyses, the occurrence in intronic regions... |
2,337,798 | Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. | Autosomal recessive spinal muscular atrophy (SMA) is a common, fatal neuromuscular disease caused by homozygous absence of the SMN1 gene in approximately 94% of patients. However, a highly homologous SMN2 gene exists in the same chromosome interval, centromeric to SMN1, and hampers detection of SMN1. We present a new, ... |
2,337,799 | Genomic rearrangements in the BRCA1 and BRCA2 genes. | Mutations in the BRCA1 and BRCA2 genes predispose women to breast and ovarian cancer. BRCA1 and BRCA2 are 83 and 86 kb long, with coding sequences of 5.7 and 10.2 kb, scattered over 22 and 26 coding exons, respectively. The large majority of the alterations identified in these genes are point mutations and small insert... |
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