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2,337,900 | Identification of two novel genes for blackleg resistance in Brassica napus. | Blackleg, caused by Leptosphaeria maculans, is a major disease of Brassica napus. Two populations of B. napus DH lines, DHP95 and DHP96, with resistance introgressed from B. rapa subsp. sylvestris, were genetically mapped for resistance to blackleg disease with restriction fragment length polymorphism markers. Examinat... |
2,337,901 | Unsuspected Klinefelter syndrome diagnosed during oncologic evaluation: a case series. | Klinefelter syndrome is an underdiagnosed chromosomal disorder that has significant implications for health and for medical management. This report presents 5 adult male patients diagnosed with previously unsuspected Klinefelter syndrome as a result of cytogenetic testing for suspected hematologic malignancies. This ca... |
2,337,902 | Developing the use of mismatch binding proteins for discovering rare somatic mutations. | A method for detecting rare, unknown, somatic mutations could allow presymptomatic cancer screening from human fluids. Immobilized mismatch binding protein can bind DNA heteroduplexes while allowing homoduplexes to be washed away, thus enriching for rare mutations. We examined the potential use, for mutation enrichment... |
2,337,903 | A novel optical biosensor format for the detection of clinically relevant TP53 mutations. | The TP53 gene has been the subject of intense research since the realisation that inactivation of this gene is common to most cancer types. Numerous publications have linked TP53 mutations in general or at specific locations to patient prognosis and therapy response. The findings of many studies using general approache... |
2,337,904 | Sampling strategies for detecting rare impurities: an application in gene therapy products. | Detection of rare impurities in drug products presents special challenges. Replication competent adenovirus (RCA) is a rare impurity found in adenovirus-based gene therapy products. Various methods are used for detection of RCAs. We primarily focus on qualitative assays. Acceptance sampling plans for detecting RCAs in ... |
2,337,905 | A paternally inherited duplication in the Prader-Willi/Angelman syndrome critical region: a case and family study. | The Prader-Willi/Angelman Critical Region (PWACR; Chromosome 15q11-13) is of interest as a potential locus for genes conferring susceptibility to autism spectrum disorders (ASD). This report describes a female proband referred for evaluation of a possible ASD. Genetic analyses indicated that the proband, her father and... |
2,337,906 | Physicians and genetic malpractice. | Primary care physicians are unprepared for the increase in demands for prenatal genetic testing. Often, they do not possess the necessary knowledge, skills or attitudes to provide genetic counselling. Yet, since the demand for prenatal genetic services is growing faster than the number of genetic professionals, the res... |
2,337,907 | Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations. | beta-Thalassemia is a serious health problem in the United States, especially in California, due to increased Asian immigration. Neonatal screening by using high-performance liquid chromatography (HPLC) or isoelectric focusing (IEF) may lead to confusion due to interactions of various hemoglobinopathies with beta-thala... |
2,337,908 | Ophthalmoplegia due to mitochondrial DNA disease: the need for genetic diagnosis. | We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome c oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the... |
2,337,909 | On the theoretical and empirical framework for studying genetic interactions within and among species. | We present a quantitative genetic (QG) interpretation of the Bateson-Dobzhansky-Muller (BDM) genetic model of speciation in order to unify the theoretical framework for understanding how the genetic differentiation of populations is associated with the process of speciation. Specifically, we compare the QG theory of jo... |
2,337,910 | Genetic polymorphism of CYP2C9 in a Vietnamese Kinh population. | Cytochrome P450 2C9 (CYP2C9) shows genetic polymorphism with high interethnic variation, but no report has addressed the genetic polymorphism in the Vietnamese population. In the present study, the distribution of 2 common allelic variations of CYP2C9 was investigated in Vietnamese Kinh population, a major ethnic group... |
2,337,911 | gammaAla82Gly represents a common fibrinogen gamma-chain variant in Caucasians. | Screening of 200 blood donors for the presence of polymorphisms in three fibrinogen genes (FGA, FGB, FGG), revealed two individuals with a heterozygous missense mutation (c.323C > G, gammaAla82Gly) in the FGG gene. This mutation has been reported previously to cause mild hypofibrinogenaemia. Analysis of an additiona... |
2,337,912 | Manifestation, management and molecular analysis of candidate genes in two rare cases of thyrotoxic hypokalemic periodic paralysis. | Hypokalemic periodic paralysis as a complication of thyrotoxicosis (THypoKPP) is common in Asians but not well recognized in Western countries or pediatric patients, where most cases are due to the familial variant (FHypoKPP). Ion channel gene mutations may underlie these diseases. We describe the first pediatric and a... |
2,337,913 | Specific detection of the PVY(N)-W variant of Potato virus Y. | PVY(N)-W is one of the variant populations of Potato virus Y (PVY). This variant is of concern in seed potato production and requires a specific diagnosis since it induces more or less symptomless infections and is not detectable easily in field inspections. Moreover, this variant is serologically indistinguishable fro... |
2,337,914 | Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy. | Spinal muscular atrophy is a group of allelic autosomal recessive disorders characterized by progressive motoneuron loss, symmetric weakness, and skeletal muscle atrophy. It is traditionally considered a pure lower motoneuron disorder, for which a current definitive diagnosis is now possible by molecular genetic testin... |
2,337,915 | Screening differentially expressed genes in mouse hepatocarcinoma ascites cell line with high potential of lymphatic metastasis. | To screen genes differentially expressed in mouse hepatocarcinoma ascites cell line with high potential of lymphatic metastasis.</AbstractText>A subtracted cDNA library of mouse hepatocarcinoma cell line with high potential of lymphatic metastatic Hca-F and its synogenetic cell line Hca-P with a low metastatic potentia... |
2,337,916 | [Screening 21-hydroxylase deficiency carriers in androgen excess women of Chinese Han nationality]. | To gain a primary understanding of the prevalence of 21-hydroxylase deficiency(21-OHD) heterozygote (carrier) among androgen excess women of Chinese Han nationality, compare the molecular genetic changes therein revealed with the results of adrenocorticotropic hormone (ACTH) stimulating test, and assess the carriers' p... |
2,337,917 | [Genetic polymorphisms of fifteen short tandem repeat loci in Chengdu Han population]. | To acquire the population genetic data of fifteen short tandem repeat (STR) loci in Chengdu Han population.</AbstractText>A total of 210 EDTA-blood specimens were collected from the unrelated individuals in Chengdu Han population. The DNA samples were extracted with Chelex method and amplified by multiplex PCR techniqu... |
2,337,918 | Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma. | Desmoid tumors, also known as aggressive fibromatosis, occur with an incidence of 10 to 15 percent in patients affected by familial adenomatous polyposis, an autosomal inherited disease caused by germline mutations in the APC gene. However, sporadic forms with no hereditary background exist. The aim of this study was t... |
2,337,919 | Expression of PHA polymerase genes of Pseudomonas putida in Escherichia coli and its effect on PHA formation. | Poly-3-hydroxyalkanoates (PHAs) are synthesized by many bacteria as intracellular storage material. The final step in PHA biosynthesis is catalyzed by two PHA polymerases (phaC) in Pseudomonas putida. The expression of these two phaC genes (phaC1 and phaC2)was studied in Escherichia coli, either under control of the na... |
2,337,920 | Genome-wide strategies for detecting multiple loci that influence complex diseases. | After nearly 10 years of intense academic and commercial research effort, large genome-wide association studies for common complex diseases are now imminent. Although these conditions involve a complex relationship between genotype and phenotype, including interactions between unlinked loci, the prevailing strategies f... |
2,337,921 | Improving the nutritional value of Golden Rice through increased pro-vitamin A content. | "Golden Rice" is a variety of rice engineered to produce beta-carotene (pro-vitamin A) to help combat vitamin A deficiency, and it has been predicted that its contribution to alleviating vitamin A deficiency would be substantially improved through even higher beta-carotene content. We hypothesized that the daffodil gen... |
2,337,922 | Maternal efforts to prevent type 1 diabetes in at-risk children. | The aim of this study was to assess maternal diabetes prevention efforts aimed at children identified as at risk through newborn genetic screening.</AbstractText>A total of 192 mothers of children identified as at risk for type 1 diabetes through newborn genetic screening were administered a structured interview 3.6 +/... |
2,337,923 | Long-term monitoring of the mortality trend of Huntington's disease in Austria. | Recent increasing incidence and prevalence rates of Huntington's disease (HD), a fatal neurodegenerative disorder, prompted us to investigate the epidemiological dynamic of HD in Austria during the period 1970--2001. Our study demonstrated a stable HD mortality rate throughout Austria of 0.125 per 100,000 individuals d... |
2,337,924 | Statistical analysis of diversification with species traits. | Testing whether some species traits have a significant effect on diversification rates is central in the assessment of macroevolutionary theories. However, we still lack a powerful method to tackle this objective. I present a new method for the statistical analysis of diversification with species traits. The required d... |
2,337,925 | [Clinical, tomographic and immunogenetic study of patients with infantile cerebral palsy]. | A neurovisual and immunogenetic study of patients with different forms of cerebral palsy was conducted. Morphological peculiarities of each form were described. A frequent combination of pathology of cerebrospinal fluid spaces and periventricular area with disruption of neuronal migration and development of brain mass ... |
2,337,926 | [Therapeutic implications of polymorphisms in cytochromes and drug transporters]. | There is great heterogeneity in the way individuals respond to drug therapy. Reasons for this variability include pathophysiological or environmental factors, drug interactions or genetic influences. Among those influences are polymorphisms in drug-metabolizing enzymes, such as Cytochrom-P-450 (CYP) 2D6, CYP2C9 or CYP2... |
2,337,927 | Expression profiling using human tissues in combination with RNA amplification and microarray analysis: assessment of Langerhans cell histiocytosis. | Advances in molecular genetics have led to sequencing of the human genome, and expression data is becoming available for many diverse tissues throughout the body, allowing for exciting hypothesis testing of critical concepts such as development, differentiation, homeostasis, and ultimately, disease pathogenesis. At pre... |
2,337,928 | Denaturing gradient-based two-dimensional gene mutation scanning in a polymer microfluidic network. | An integrated two-dimensional (2-D) DNA separation platform, combining standard gel electrophoresis with temperature gradient gel electrophoresis (TGGE) on a polymer microfluidic chip, is reported. Rather than sequentially sampling DNA fragments eluted from standard gel electrophoresis, size-resolved fragments are simu... |
2,337,929 | Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence. | We tested six single nucleotide polymorphisms (SNPs) in the alpha4 subunit gene (CHRNA4) and four SNPs in the beta2 subunit gene (CHRNB2) of nicotinic acetylcholine receptors (nAChRs) for association with nicotine dependence (ND), which was assessed by smoking quantity (SQ), the heaviness of smoking index (HSI) and the... |
2,337,930 | Delayed gene therapy of glial cell line-derived neurotrophic factor is efficacious in a rat model of Parkinson's disease. | Gene transfer of glial cell line-derived neurotrophic factor (GDNF) in rodent models of Parkinson's disease (PD) has been shown to protect against neurodegeneration either prior to or immediately after neurotoxin-induced lesions; however, the nigrostriatal pathway was largely intact when gene delivery was completed in ... |
2,337,931 | First molecular screening of deafness in the Altai Republic population. | We studied the molecular basis of NSHL in Republic of Altai (South Siberia, Russia). The Altaians are the indigenous Asian population of the Altai Mountain region considered as a melting-pot and a dispersion center for world-wide human expansions in the past.</AbstractText>A total of 76 patients of Altaian, Russian or ... |
2,337,932 | [Factor V Leiden, FII G20210A, MTHFR C677T mutations as risk factors for venous thrombosis during pregnancy and puerperium].<Pagination><StartPage>201</StartPage><EndPage>205</EndPage><MedlinePgn>201-5</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Venous thrombosis is the ... | Fluoroquinolones still belong to the drugs of choice in the treatment of uncomplicated gonorrhea. At the same time, there have been more data on the spreading N. gonorrhoeae strains resistant to fluoroquinolones. A variety of mechanisms, like modification of the target of antibiotic's action (point mutations in genes g... |
2,337,933 | HFE genotyping demonstrates a significant incidence of hemochromatosis in undifferentiated arthritis. | Hereditary hemochromatosis is a common autosomal recessive disorder of iron metabolism. Among Northern Europeans the carrier frequency is estimated to be 1 in 10, while up to 1 in 200 is affected by the disease. Arthropathy is one early clinical manifestation of this disease, but the articular features are often misdia... |
2,337,934 | (Mis)alignments in counseling for Huntington's Disease predictive testing: clients' responses to reflective frames. | As a sequel to an earlier paper (Sarangi et al., 2004. J Genet Couns, 13(2), 135-155) examining genetic counselors' initiation of reflective frames, in this paper we analyze the variable ways in which clients respond to such reflective frames in the clinical setting. Of the six types of reflective questions identified,... |
2,337,935 | Evaluating the impact of genetic counseling and testing with signal detection methods. | One measure of the impact of genetic counseling and testing (GCT) is the extent to which it fosters behavioral change that is consistent with mutation status. We describe and illustrate how two different signal detection methods, receiver operating characteristic (ROC) analysis and recursive partitioning, can be used i... |
2,337,936 | Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. | For over a decade, prenatal screening for cystic fibrosis (CF) has been considered a model for the integration of genetic testing into routine medical practice. Data from pilot studies and public policy discourse have led to recommendations by some professional organizations that CF screening should be offered or made ... |
2,337,937 | Selective induction of tumor-associated antigens in murine pulmonary vasculature using double-targeted adenoviral vectors. | Targeted therapies directed to tumor-associated antigens are being investigated for the treatment of cancer. However, there are few suitable animal models for testing the ability to target these tumor markers. Therefore, we have exploited mice transgenic for the human coxsackie and adenovirus receptor (hCAR) to establi... |
2,337,938 | Introducing the MUC16 gene: implications for prevention and early detection in epithelial ovarian cancer. | More than 24,000 women in the United States are diagnosed with ovarian cancer every year, and half of these women die from their disease. Stage 1 ovarian cancer is curable in 95% of cases; however, due to inadequate screening tools and lack of symptoms in early disease, ovarian cancer is generally at Stage 3 or 4 when ... |
2,337,939 | Ethnic differences between Japanese and Caucasians in the expression levels of mRNAs for CYP3A4, CYP3A5 and CYP3A7: lack of co-regulation of the expression of CYP3A in Japanese livers. | Using a newly developed real-time reverse transcriptase-polymerase chain reaction method, mRNAs were quantitated for CYP3A4, CYP3A5 and CYP3A7 in adult livers from 24 Japanese and 24 Caucasian subjects to elucidate the potential ethnic differences in the expression levels of human cytochrome P450 (CYP) 3As. The express... |
2,337,940 | Development of a pyrosequencing approach for rapid screening of rifampin, isoniazid and ethambutol-resistant Mycobacterium tuberculosis. | The need to minimize the transmission of drug-resistant Mycobacterium tuberculosis requires rapid identification procedures.</AbstractText>To develop a pyrosequencing approach for rapid screening of rifampin, isoniazid and ethambutol-resistant M. tuberculosis based on characterization of resistance-associated hot mutat... |
2,337,941 | Distinguishing the four genetic causes of Jouberts syndrome-related disorders. | Jouberts syndrome-related disorders are a group of recessively inherited conditions showing cerebellar vermis hypoplasia and the molar tooth sign of the midbrain-hindbrain junction. Recent analyses have suggested at least three loci, JBTS1 (9q34.3), -2 (11p11.2-q12.3), and -3 (6q23), but the phenotypic spectrum associa... |
2,337,942 | Nonparametric tests of association of multiple genes with human disease. | The genetic basis of many common human diseases is expected to be highly heterogeneous, with multiple causative loci and multiple alleles at some of the causative loci. Analyzing the association of disease with one genetic marker at a time can have weak power, because of relatively small genetic effects and the need to... |
2,337,943 | [Fundus quiz 2004]. | Six cases with characteristic fundus pathologies are presented and discussed using multiple choice questions. |
2,337,944 | An association study of dopamine receptors polymorphisms and the Wisconsin Card Sorting Test in schizophrenia. | Dopamine (DA), an important neurotransmitter in prefrontal cortex (PFC), is involved in the pathogenesis of schizophrenia. The aim of the study was to test an association between common polymorphism of genes for DA receptors DRD1, DRD2, DRD3, DRD4, and performance on the Wisconsin Card Sorting Test (WCST), measuring va... |
2,337,945 | CT60 single nucleotide polymorphisms of the cytotoxic T-lymphocyte-associated antigen-4 gene region is associated with Graves' disease in an Italian population. | Graves' disease (GD) is an autoimmune and polygenic disorder. Several studies have shown that human leukocyte antigen (HLA) class II and the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene are involved in the genetic susceptibility. We performed a case control study on 150 patients with GD and 301 controls, m... |
2,337,946 | Hereditary breast/ovarian and colorectal cancer genetics knowledge in a national sample of US physicians. | Clinically relevant genetics knowledge is essential for appropriate assessment and management of inherited cancer risk, and for effective communication with patients. This national physician survey assessed knowledge regarding basic cancer genetics concepts early in the process of introduction of predictive genetic tes... |
2,337,947 | High pressure liquid chromatography and electrospray ionization mass spectrometry are advantageously integrated into a two-levels approach to detection and identification of haemoglobin variants. | Detecting and correctly identifying haemoglobin (Hb) variants is typically achieved by a two-levels laboratory approach. We report our experience in dealing with 91 Hb variants, including a number of frequent and a few rare variants. Screening included akaline agarose gel electrophoresis (AGE), ion-exchange automated h... |
2,337,948 | Heat-shock protein 70: molecular supertool? | The cellular stress response decreases cellular injury, either via primary induction of cytoresistance or by secondary enhancement of cellular repair mechanisms. The most frequently studied and best understood effectors of the cellular stress response are the heat shock proteins (HSP). HSP are among the oldest tools in... |
2,337,949 | Quantification of random genomic mutations. | Cancer cells contain numerous clonal mutations. It has been theorized that malignant cells sustain an elevated mutation rate and, as a consequence, harbor yet larger numbers of random point mutations. Testing this hypothesis has been precluded by lack of an assay to measure random mutations-that is, mutations that occu... |
2,337,950 | In situ genotyping individual DNA molecules by target-primed rolling-circle amplification of padlock probes. | Methods are needed to study single molecules to reveal variability, interactions and mechanisms that may go undetected at the level of populations of molecules. We describe here an integrated series of reaction steps that allow individual nucleic acid molecules to be detected with excellent specificity. Oligonucleotide... |
2,337,951 | LigAmp for sensitive detection of single-nucleotide differences. | We developed the LigAmp assay for sensitive detection and accurate quantification of viruses and cells with single-base mutations. In LigAmp, two oligonucleotides are hybridized adjacently to a DNA template. One oligonucleotide matches the target sequence and contains a probe sequence. If the target sequence is present... |
2,337,952 | RNAi living-cell microarrays for loss-of-function screens in Drosophila melanogaster cells. | RNA interference (RNAi)-mediated loss-of-function screening in Drosophila melanogaster tissue culture cells is a powerful method for identifying the genes underlying cell biological functions and for annotating the fly genome. Here we describe the development of living-cell microarrays for screening large collections o... |
2,337,953 | A highly informative SNP linkage panel for human genetic studies. | We have developed a highly informative set of single-nucleotide polymorphism (SNP) assays designed for linkage mapping of the human genome. These assays were developed on a robust multiplexed assay system to provide a combination of very high accuracy and data completeness with high throughput for linkage studies. The ... |
2,337,954 | Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. | We present a genotyping method for simultaneously scoring 116,204 SNPs using oligonucleotide arrays. At call rates >99%, reproducibility is >99.97% and accuracy, as measured by inheritance in trios and concordance with the HapMap Project, is >99.7%. Average intermarker distance is 23.6 kb, and 92% of the genom... |
2,337,955 | BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. | Recently, it was shown that the oncogenic activation of BRAF, a member of the RAS/RAF family of kinases, by the V600E mutation is characteristic for sporadic colon tumors with microsatellite instability. Further, it was shown to associate with the silencing of the mismatch repair (MMR) gene MLH1 by hypermethylation. Mo... |
2,337,956 | Lafora disease due to EPM2B mutations: a clinical and genetic study. | To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease.</AbstractText>The authors performed a clinical and mutational analysis of 25 patients, from 23 families, diagnosed with Lafora disease who had not shown mutations in the EPM2A gene.</AbstractText>The authors identified 18... |
2,337,957 | Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population. | Large-scale mitochondrial DNA (mtDNA) deletions are associated with clinical conditions such as Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia in adults and Pearson syndrome in children. Reported case series have suggested that deletions are not uncommon in the population, but their prevalence h... |
2,337,958 | Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. | Autosomal dominant optic atrophy (ADOA) is the commonest form of inherited optic neuropathy. Mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein underlie ADOA and may perturb the biogenesis and maintenance of mitochondria.</AbstractText>To investigate the mutation spectrum of the OPA1 gene and a... |
2,337,959 | Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation. | To explore whether there is an increased prevalence of chronic rhinosinusitis (CRS) in known cystic fibrosis (CF) carriers. Self-reported CRS affects 13% to 14% of the US population and clusters in families, which suggests that genetic factors may play an etiologic role. Cystic fibrosis is an inherited recessive disord... |
2,337,960 | Experimental designs for reliable detection of linkage disequilibrium in unstructured random population association studies. | A method is given for design of experiments to detect associations (linkage disequilibrium) in a random population between a marker and a quantitative trait locus (QTL), or gene, with a given strength of evidence, as defined by the Bayes factor. Using a version of the Bayes factor that can be linked to the value of an ... |
2,337,961 | Immunogenomics of hematopoietic stem cell transplantation. | Recipients of allogeneic hematopoietic stem cell transplantation (HSCT) incur the risk of graft-versus-host disease even when the donor is a sibling who shares the Major Histocompatibility Antigens. Therefore, even the perfect HLA match does not represent the optimal genetic match between donors and recipients in HSCT.... |
2,337,962 | Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome. | The mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal and neurological symptoms. It is a rare autosomal recessive mitochondrial disorder with multiple mitochondrial DNA deletions and/or depletion. It is caused by thymidine phosphorylase (TP) g... |
2,337,963 | Age dependence of strain determinant on mice motor coordination. | Evaluation of motor coordination and motor learning in mice remains a challenge as many factors may interact with the different tests used. Among these factors, genetic background has been reported to be a major determinant of mice performances in motor coordination tests. However, it is not known if the strain depende... |
2,337,964 | In vitro synthesis of enzymatically active HIV-1 protease for rapid phenotypic resistance profiling. | Given the expanding antiretroviral therapy, inexpensive and fast HIV drug resistance assays are urgently needed. In this view, we have developed a novel phenotypic resistance test for HIV-1 protease inhibitors (PIs) based on recombinant expression of patient-derived HIV PR in Escherichia coli and subsequent enzymatic t... |
2,337,965 | Familiality of temperament in bipolar disorder: support for a genetic spectrum. | The array of different diagnoses and clinical presentations seen in the family members of bipolar probands suggests a quantitative or spectrum phenotype. Consistent with this idea, it has been proposed that an underlying quantitative variation in temperament may be the primary phenotype that is genetically transmitted ... |
2,337,966 | CDH1 associated gastric cancer: a report of a family and review of the literature. | Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominant inherited form of gastric cancer associated with inactivating germline mutations in the CDH1 gene. We set out to outline the role of CDH1 in HDGC. Investigation of a family suspected as having HDGC is discussed. The role of surgery in the management of a... |
2,337,967 | [Ethical aspects of disclosing information on prenatal screening for Down's syndrome]. | Giving detailed information on prenatal screening for Down's syndrome is considered as paramount since this medical procedure intends to enhance the patient's self-governance in reproductive issues. Not only the respect for autonomy, but also the increased maternal anxiety and the reproductive decisions following the p... |
2,337,968 | Selection of predictor variables for pneumonia using neural networks and genetic algorithms. | Artificial neural networks (ANN) can be used to select sets of predictor variable that incorporate nonlinear interactions between variables. We used a genetic algorithm, with selection based on maximizing network accuracy and minimizing network input-layer cardinality, to evolve parsimonious sets of variables for predi... |
2,337,969 | Evaluation of closed adult nucleus multiple ovulation and embryo transfer and conventional progeny testing breeding schemes for milk production in tropical crossbred cattle. | The potential benefits of closed adult nucleus multiple ovulation and embryo transfer (MOET) and conventional progeny testing (CNS) schemes, and the logistics of their integration into large-scale continuous production of crossbred cattle were studied by deterministic simulation. The latter was based on F1 (Bos taurus ... |
2,337,970 | Structural characterization and transcriptional regulation of the gene encoding diapause hormone and pheromone biosynthesis activating neuropeptide in the cotton bollworm, Helicoverpa armigera. | We have cloned the gene encoding the diapause hormone and the pheromone biosynthesis activating neuropeptide in Helicoverpa armigera (Har-DH-PBAN). The Har-DH-PBAN gene contains six exons and five introns that fall in the same positions as in the Bombyx mori DH-PBAN gene (Bom-DH-PBAN). The transcription initiation site... |
2,337,971 | Atopic disease in childhood. | A child with atopy produces IgE antibodies after exposure to common environmental allergens. The atopic diseases (eczema, asthma and rhinoconjunctivitis) are clinical syndromes each defined by a group of symptoms and signs. Not all children with atopy will have atopic disease or develop symptoms after exposure to an al... |
2,337,972 | Greenberg v. Miami Children's Hospital Research Institute. | Court Decision: 264 Federal Supplement, 2d Series 1064; 2003 May 29 (date of decision). Plaintiffs in this case were a group of parents of children afflicted with Canavan disease, who provided tissue for research on the disease and aided in identification of other affected families, and three nonprofit organizations th... |
2,337,973 | Identification of novel mutations in patients with Shwachman-Diamond syndrome. | Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated mutations were reported in the Shwachman-Bodian-Diamond synd... |
2,337,974 | Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency: clinical, biochemical, and genetic features of adult-onset cases. | To create awareness of adult-onset carnitine palmitoyltransferase II (CPT II) deficiency by describing the clinical, biochemical, and genetic features of three New Zealand patients with this disorder.</AbstractText>Review of case notes, creatine kinase (CK) values, CPT II assay results, genetic mutation analyses, and t... |
2,337,975 | Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment. | To describe the impact of Myriad Genetics, Inc.'s direct-to-consumer advertising (DTC-ad) campaign on cancer genetic services within two Managed Care Organizations, Kaiser Permanente Colorado (KPCO), Denver, Colorado, where the ad campaign occurred, and Henry Ford Health System (HFHS), Detroit, Michigan, where there we... |
2,337,976 | Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese. | Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in two genes, PKD1 and PKD2. The complexity of these genes, particularly PKD1, has complicated genetic screening, though recent advances have provided new opportunities for amplifying these genes. In the Han Chinese population, no complete muta... |
2,337,977 | Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. | A rapid and convenient approach for the detection of the most common CYP21 gene mutations in patients with congenital adrenal hyperplasia (CAH) with classical forms of 21-hydroxylase deficiency was used. In addition, a new semiquantitative strategy for the detection of del8-bp was designed. These procedures were used f... |
2,337,978 | Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer. | This study examines the impact of hereditary nonpolyposis colorectal cancer (HNPCC) genetic test results on psychological outcomes among cancer-affected and -unaffected participants up to 1 year after results disclosure.</AbstractText>A total of 155 persons completed study measures before HNPCC genetic testing, and at ... |
2,337,979 | 'The edge effect': an exploratory study of some factors affecting referrals to cancer genetic services in rural Wales. | This exploratory study examines the role of rurality in referrals from primary care to the Cancer Genetics Service for Wales (CGSW) through a case study of referrals from Montgomeryshire, a predominantly rural area in mid-Wales located adjacent to the English border. Awareness of CGSW amongst practitioners is low. We f... |
2,337,980 | [Muscular dystrophy]. | The muscular dystrophies are a genetically heterogeneous group of progressive disorders that lead to the breakdown of the integrity of skeletal muscle. Numerous recent advances made in research into the molecular genetics of muscular dystrophy have highlighted the diversity of this family of disorders. Muscle biopsy al... |
2,337,981 | [Gene diagnosis of antithrombin deficiency and factor VII deficiency]. | Since 1996 we have performed gene diagnosis of hereditary antithrombin deficiency and factor VII deficiency. We studied twenty-three patients with antithrombin deficiency and identified eighteen distinct gene mutations including single nucleotide substitutions, small nucleotide deletions, a small nucleotide insertion, ... |
2,337,982 | [Genetic medicine in Japan]. | Present status of genetic medicine in Japan is reviewed. More than five hundred medical doctors have now been qualified as Japanese board of clinical genetics. Training courses for genetic counselors have started in several colleges. Thirty-six hospitals organized by University or National Centers have independent unit... |
2,337,983 | [Ethical guidelines on genetic testing and gene therapy]. | According to the recent and rapid advances in molecular genetics research, genetic testing and gene therapy have a potential of giving unexpected influence to the human beings. To prevent and to solve various ethical, legal and social implementations (ELSI) of genetic testing and gene therapy, several guidelines have b... |
2,337,984 | [Genetic testing]. | Mechanisms of human diseases have been elucidated along with the progress of the Human Genome Project, which has enabled accurate genetic testing towards personalized medicine. Besides the examination of an individual gene, RNA profiling, epigenetic test and molecular karyotyping have been applied to analyze clinical s... |
2,337,985 | Primary hyperoxaluria type 1: is genotyping clinically helpful? | There is some controversy about the value of mutation analysis in the management of primary hyperoxaluria type 1 (PH1). About 50 different mutations of the AGXT gene encoding the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT) are currently known. The three most common mutations in the Weste... |
2,337,986 | A nonparametric approach to the analysis of longitudinal data via a set of level crossing problems with application to the analysis of microarray time course experiments. | Here we develop a completely nonparametric method for comparing two groups on a set of longitudinal measurements. No assumptions are made about the form of the mean response function, the covariance structure or the distributional form of disturbances around the mean response function. The solution proposed here is bas... |
2,337,987 | Linkage analysis reveals two independent loci for ocular disorders in a local Japanese Black cattle population. | A vision-impairing ocular disorder was observed in a local Japanese Black cattle population, and assumed to be an autosomal recessive disease based on the presence of a founder cow. A genome scan using seven affected half-sib pairs revealed a linkage to BTA5 (Z(max) = 7.0, LOD(max) = 2.0), designated the bovine ocular ... |
2,337,988 | Genetic testing and surgeon decision. | Colorectal cancer is a highly treatable and often curable disease when localized to the bowel. Traditional pathological staging systems have been useful in predicting the outcome of colorectal cancer, but is now evident that colorectal cancer is heterogeneous and its natural story strongly correlates with genetic alter... |
2,337,989 | [The role of genetic factors in human radioresistance]. | The role of genetic factors in the development of chronic radiation disease (CRD), mostly caused by occupational external gamma-exposure, was evaluated. The data of molecular genetic survey of a cohort of 985 workers at the nuclear power plant, the Mayak PA, were analyzed. Among the genetic markers tested, an associati... |
2,337,990 | Acute and genetic toxicity of essential oil extracted from Litsea cubeba (Lour.) Pers. | Litsea cubeba oil is an aromatic essential oil extracted from the fresh fruits of Litsea cubeba (Lour.) Pers. It is used as a flavor enhancer in foods, cosmetics, and cigarettes; as a raw material in the manufacture of citral, vitamins A, E, and K, ionone, methyl ionone, and perfumes; and as an antimicrobial and insect... |
2,337,991 | [Genetic control of the fluorescent sounding indices testing gluten quality].<Pagination><StartPage>30</StartPage><EndPage>34</EndPage><MedlinePgn>30-4</MedlinePgn></Pagination><Abstract><AbstractText>The interactions of genes on 10 indices defined by fluorescent sound probe in the system of half-diallele crossings wer... | The interactions of genes on 10 indices defined by fluorescent sound probe in the system of half-diallele crossings were studied. The indexes of hydrophobic interactions are controlled by additive-dominant system of genes. The epistatic interactions take place as well. Genetic properties of 10 cultivars and breeding fo... |
2,337,992 | [Congenital muscular dystrophies: muscle-eye-brain disease]. | Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constan... |
2,337,993 | Association of the HLA region with multiple sclerosis as confirmed by a genome screen using >10,000 SNPs on DNA chips. | Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, with a complex genetic background. Here, we present a genome screen for association in small scale, employing 11,555 single nucleotide polymorphisms (SNPs) on DNA chips for genotyping 100 MS patients stratified for HLA-DR2+ and 100... |
2,337,994 | Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. | The phenotype of Bardet-Biedl syndrome (BBS) is defined by the association of retinitis pigmentosa, obesity, polydactyly, hypogenitalism, renal disease and cognitive impairement. The significant genetic heterogeneity of this condition is supported by the identification, to date, of eight genes (BBS1-8) implied with cil... |
2,337,995 | Fine mapping of a QTL region with large effects on growth and fatness on mouse chromosome 2. | We combined the use of a congenic line and recombinant progeny testing (RPT) to characterize and fine map a previously identified region of distal mouse chromosome 2 (MMU2) harboring quantitative trait loci (QTL) with large effects on growth and fatness. The congenic line [M16i.B6-(D2Mit306-D2Mit52); MB2] was created u... |
2,337,996 | Molecular basis of Hb H disease in southwest Iran. | Although alpha0-thalassemia (thal) defects are not very frequent in the Iranian population, Hb H disease does occur in the country. We have analyzed the alpha gene cluster of 13 patients showing the presence of Hb H to establish the molecular background of this disease in southwest Iran (Shiraz and Hormozgan provinces)... |
2,337,997 | Campaign to control genetic blood diseases in Bahrain. | Genetic blood diseases are frequent in Bahrain as in all Middle Eastern countries. Previous neonatal screening in 1984-1985 showed that the birth prevalence of sickle cell disease (SCD) was 2.1%, of sickle cell trait 11% and of glucose-6-phosphate dehydrogenase (G6PD) deficiency 25%. The Ministry of Health recognized t... |
2,337,998 | Recently available techniques applicable to genetic problems in the Middle East. | In this paper, we address the preventive health aspects of genetic problems in the Middle East and provide guidelines to prioritize preventive strategies. Applications of various novel genetic techniques such as comprehensive neonatal screening, high throughput heterozygote detection, preimplantation genetic diagnosis,... |
2,337,999 | DNA diagnosis of single gene disorders in patients of non-European origin: experience from Kuwait. | The aim of this study was to establish genetic DNA-diagnostic service in Kuwait.</AbstractText>Polymerase chain reaction, restriction fragment length polymorphisms, heteroduplex analysis and DNA sequencing were applied.</AbstractText>Direct testing for common mutations had variable success in Kuwaiti patients with diff... |
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