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2,336,500 | Design and psychometric evaluation of the Psychological Adaptation to Genetic Information Scale. | To develop and psychometrically evaluate the Psychological Adaptation to Genetic Information Scale (PAGIS).</AbstractText>A cross-sectional, Web-based survey of participants (n=323) recruited via Internet electronic mailing lists or Websites for people affected by genetic diseases.</AbstractText>Item analysis, confirma... |
2,336,501 | Preparation of peptide-targeted phagemid particles using a protein III-modified helper phage.<Pagination><StartPage>493</StartPage><EndPage>497</EndPage><MedlinePgn>493-7</MedlinePgn></Pagination><Abstract><AbstractText>Ligand or peptide-targeted phagemid particles are being pursued as vehicles for receptor-mediated ge... | Ligand or peptide-targeted phagemid particles are being pursued as vehicles for receptor-mediated gene delivery. Here we describe a helper phage in which the protein III (pIII) protein is modified by the addition of a ligand peptide sequence at the amino terminus. Phagemid particles can be prepared with the help of thi... |
2,336,502 | Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. | Split-hand/split-foot malformation (SHFM) is a congenital limb malformation characterized by a median cleft of hand and/or foot due to the absence of central rays. Five loci for syndromic and non-syndromic SHFM, termed SHFM1-5, have been mapped to date. Recently, a 0.5 Mb tandem genomic duplication was found at chromos... |
2,336,503 | Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. | Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24 bp, was found in fam... |
2,336,504 | Isolation, characterization and mapping of simple sequence repeat markers in zoysiagrass (Zoysia spp.). | The genus Zoysia consists of 16 species that are naturally distributed on sea coasts and grasslands around the Pacific. Of these, Zoysia japonica, Zoysia matrella, and Zoysia tenuifolia are grown extensively as turfgrasses, and Z. japonica is also used as forage grass in Japan and other countries in East Asia. To devel... |
2,336,505 | Genetic variation in bone growth patterns defines adult mouse bone fragility. | Femoral morphology and composition were determined for three inbred mouse strains between ages E18.5 and 1 year. Genotype-specific variation in postnatal, pubertal, and postpubertal growth patterns and mineral accrual explained differences in adult bone trait combinations and thus bone fragility.</AbstractText>Fracture... |
2,336,506 | Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. | Ten years after BRCA1 and BRCA2 were first identified as major breast cancer susceptibility genes, the spectrum of mutations and modifiers of risk among many ethnic minorities remain undefined.</AbstractText>To characterize the clinical predictors, spectrum, and frequency of BRCA1 and BRCA2 mutations in an ethnically d... |
2,336,507 | Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. | Hereditary autoinflammatory syndromes are characterized by recurrent episodes of fever and inflammation. Seven subtypes have been described, caused by mutations in four different genes. Apart from a common phenotype of lifelong recurrent inflammatory attacks, all subtypes have distinct features and specific therapeutic... |
2,336,508 | Hemochromatosis: genetic testing and clinical practice. | The availability of a facile treatment for hemochromatosis renders early diagnosis of iron overload syndromes mandatory, and in many instances genetic testing allows identification of individuals at risk of developing clinical disease before pathologic iron storage occurs. Numerous proteins implicated in iron homeostas... |
2,336,509 | Diagnostic value of quantitative hepatic copper determination in patients with Wilson's Disease. | <AbstractText Label="BACKGROUND & AIMS" NlmCategory="OBJECTIVE">A 5-fold increase of hepatic copper concentration is considered as the best available test for diagnosis of hepatic Wilson's disease (WD). However, the sensitivity and specificity of this test have never been fully investigated.</AbstractText>Copper co... |
2,336,510 | Wilson's Disease. | Wilson's disease (WD) is an autosomal recessive inherited disorder leading to impaired intrahepatic trafficking and biliary excretion of copper, resulting in the accumulation of copper in various organs including the liver, cornea, and brain. The WD gene (OMIM 277900) codes for a copper transporting P-type ATPase (ATP7... |
2,336,511 | Assessing controversial direct-to-consumer advertising for hereditary breast cancer testing: reactions from women and their physicians in a managed care organization. | To describe the impact on patients and physicians at a managed care organization (MCO) of a direct-to-consumer advertising (DTC-ad) campaign concerning testing for the BRCA1 and BRCA2 genes.</AbstractText>Observational study.</AbstractText>In 2003, we mailed a 30-item questionnaire to 750 randomly chosen female members... |
2,336,512 | Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci. | Rapid detection of trisomy 21 is an important goal for prenatal genetic centers. Fluorescent-PCR and DNA fragment analysis was developed a decade ago and thousands of samples were analyzed in routine practice using this method. Quantitative real-time PCR with melting curve analysis using SNP markers for trisomy 21 dete... |
2,336,513 | Predicting the result of additional second-trimester markers from a woman's first-trimester marker profile: a new concept in Down syndrome screening. | To describe a method for deciding whether an individual's first-trimester Down syndrome screening test result justifies further testing in the second trimester.</AbstractText>Statistical modelling was used to estimate the distribution of second-trimester marker profiles for a given first-trimester profile and hence the... |
2,336,514 | Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). | To test whether multiplex ligation-dependent probe amplification (MLPA) can be used for the detection of aneuploidy of chromosomes 13, 18, 21, X, and Y in uncultured amniocytes.</AbstractText>We performed a prospective study based on 527 amniotic fluid samples. Chromosome copy numbers were determined by analysing the r... |
2,336,515 | Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination. | To report a multi-technical approach to Duchenne muscular dystrophy (DMD) mutation testing through carrier analysis, in the prenatal diagnosis of a male foetus without a known mutation segregating in the family and with inconclusive results of linkage analysis.</AbstractText>Haplotype analysis with the DMD region marke... |
2,336,516 | Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. | This study reviews our clinical experience of non-invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X-linked genetic disease or for ambiguous development of the external genitalia.</AbstractText>A prospective cohort study of 30 p... |
2,336,517 | Seroconversion following nonoccupational postexposure prophylaxis against HIV. | The efficacy of antiretroviral postexposure prophylaxis (PEP) against infection with human immunodeficiency virus (HIV) following occupational exposures has prompted the use of PEP after nonoccupational exposures. There are, however, important differences between occupational and nonoccupational exposures, and the effe... |
2,336,518 | COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. | Genetic screening of collagen 6A1 gene (COL6A1) in patients with diffuse idiopathic skeletal hyperostosis (DISH) recruited in Japan and the Czech Republic.</AbstractText>To investigate allelic associations between DISH and nucleotide variants of COL6A1.</AbstractText>DISH is a skeletal hyperostotic disease characterize... |
2,336,519 | Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. | Myoclonus dystonia syndrome (MDS) is an autosomal dominant movement disorder caused by mutations in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.</AbstractText>We have screened for SGCE mutations in index cases from 76 French patients with myoclonic syndromes, including myoclonus dystonia (M-D), essential myo... |
2,336,520 | Cancer risks in first degree relatives of BRCA1 mutation carriers: effects of mutation and proband disease status. | Mutations in the BRCA1 (MIM 113705) gene are found in many families with multiple cases of breast and ovarian cancer, and women with a BRCA1 mutation are at significantly higher risk of developing breast and ovarian cancer than are the general public.</AbstractText>We obtained blood samples and pedigree information fro... |
2,336,521 | A large-scale screen for artificial selection in maize identifies candidate agronomic loci for domestication and crop improvement. | Maize (Zea mays subsp mays) was domesticated from teosinte (Z. mays subsp parviglumis) through a single domestication event in southern Mexico between 6000 and 9000 years ago. This domestication event resulted in the original maize landrace varieties, which were spread throughout the Americas by Native Americans and ad... |
2,336,522 | Thresholds as a unifying theme in regulatory toxicology. | The scientific basis for the US Food and Drug Administration (FDA) threshold of regulation is discussed in relation to its toxicological testing recommendations for food contact substances and the existing methods it employs for exposure estimation. A case is made that the FDA's threshold of regulation is a natural ext... |
2,336,523 | Genetic counseling issues in urea cycle disorders. | The goal of counseling families that have a urea cycle disorder (UCD) is to facilitate the process of scientific understanding, emotional acceptance, and decision-making in a nondirective way. A proper understanding of the genes involved, inheritance patterns, available testing, and complicating factors is critical to ... |
2,336,524 | Testing the modularity of the N-terminal amphipathic helix conserved in picornavirus 2C proteins and hepatitis C NS5A protein. | The N-terminal region of the picornaviral 2C protein is predicted to fold into an amphipathic alpha-helix that is responsible for the protein's association with membranes in the viral RNA replication complex. We have identified a similar sequence in the N-terminal region of NS5A of hepaciviruses that was recently shown... |
2,336,525 | Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss. | Mutations of the GJB2 gene, encoding connexin 26, are the most common cause of hereditary congenital hearing loss in many countries and account for up to 50% of cases of autosomal-recessive non-syndromic deafness. By contrast, only a few GJB2 mutations have been reported to cause an autosomal-dominant form of non-syndr... |
2,336,526 | Results of cochlear implantation in two children with mutations in the OTOF gene. | The purpose of the study is to present the results of cochlear implantation in case of deafness involving mutations in the OTOF gene. This form of deafness is characterized by the presence of transient evoked otoacoustic emissions (TEOAE). In cases of profound deafness with preserved TEOAE, two main etiologies should b... |
2,336,527 | Phylogenetics by likelihood: evolutionary modeling as a tool for understanding the genome. | Molecular evolutionary studies provide a means of investigating how cells function and how organisms adapt to their environment. The products of evolutionary studies provide medically important insights to the source of major diseases, such as HIV, and hold the key to understand the developing immunity of pathogenic ba... |
2,336,528 | Newborn screening and prenatal diagnosis for Rett syndrome: implications for therapy. | Most girls with Rett syndrome develop normally prior to the appearance of the typical symptoms. A presymptomatic phase is also observed in many inborn errors of metabolism that are included in newborn screening programs. Diagnostic testing for mutations or large genomic rearrangements involving methyl-CpG binding prote... |
2,336,529 | Molecular diagnosis of Rett syndrome. | In 1999, mutations in the MECP2 gene were identified as the primary cause of Rett syndrome. MECP2 mutations can be found in 70% to 80% of all clinically defined Rett syndrome cases; in classic Rett syndrome, this frequency is even higher. In most cases, missense and nonsense mutations affecting functionally important d... |
2,336,530 | The human secretin gene in children with autistic spectrum disorder: screening for polymorphisms and mutations. | We screened 29 children with autism for mutation in the human secretin gene using single-strand conformation polymorphism. No mutation was detected in exon 2, 3, or 4. Polymerase chain reaction and DNA sequence of 5' variable number of tandem repeats showed two polymorphisms with deletion or duplication of a repeat uni... |
2,336,531 | A Single multiplexed allele-specific polymerase chain reaction for simultaneous detection of alpha1-antitrypsin S and Z mutations. | Alpha1-antitrypsin (AAT) deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. The S and Z mutations are the two most common mutations found in the AAT-deficient patients. We have developed a simple multiplexed allele-specific-PCR to detect both the S and Z ... |
2,336,532 | Hereditary nonpolyposis colorectal cancer family members' perceptions about the duty to inform and health professionals' role in disseminating genetic information. | This study's aim was to ascertain hereditary nonpolyposis colorectal cancer (HNPCC) families' views on the duty to inform with particular focus on the role of health professionals in disseminating familial genetic information. Eighty members of 16 families with a clinical or molecular diagnosis of HNPCC completed quali... |
2,336,533 | Cystic fibrosis newborn screening: a pilot study to maximize carrier screening. | Newborn screening for cystic fibrosis (CF) is expanding because early diagnosis has been shown to result in improved nutrition and growth. Most newborns identified by a mutation panel have a single detected mutation and require sweat testing to exclude an additional undetected mutation. The resulting identification of ... |
2,336,534 | Genotype-based screening for hereditary hemochromatosis: II. Attitudes toward genetic testing and psychosocial impact--a report from a German pilot study. | In collaboration with the German Sickness Fund (Kaufmännische Krankenkasse-KKH), we conducted a pilot study on DNA-based population screening of hereditary hemochromatosis (HH) in Germany. The health insurance organization KKH briefly informed their members about the possibility to participate voluntarily in this ... |
2,336,535 | Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in whites and blacks in the Hemochromatosis and Iron Overload Screening Study. | We compared initial screening data of 44,082 white and 27,124 black Hemochromatosis and Iron Overload Screening (HEIRS) Study participants. Each underwent serum transferrin saturation (TfSat) and ferritin (SF) measurements without regard to fasting, and HFE C282Y and H63D genotyping. Elevated measurements were defined ... |
2,336,536 | Large deletion at the TSC1 locus in a family with tuberous sclerosis complex. | Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. Here we describe a... |
2,336,537 | Comparison of amplification refractory mutation system and polymerase chain reaction-restriction fragment length polymorphism techniques used for the investigation of MEFV gene exon 10 point mutations in familial Mediterranean fever patients living in Cukurova region (Turkey). | Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease characterized by recurrent fever, serositis and arthritis. The disease is highly prevalent in Mediterranean basin populations. Recently, the gene responsible for FMF (MEFV) was cloned and at least 40 MEFV gene mutations have been identified.... |
2,336,538 | Arrayed primer extension: a robust and reliable genotyping platform for the diagnosis of single gene disorders: beta-thalassemia and thiopurine methyltransferase deficiency. | Mutation screenings, which were conventionally carried out individually because of different assay conditions, are usually time consuming and not cost effective. Using microarray technology, simultaneous molecular diagnosis of multiple mutations on a single platform is possible. To evaluate this idea, we developed a DN... |
2,336,539 | Constitutional and somatic RB1 mutation spectrum in nonfamilial unilateral and bilateral retinoblastoma in India. | An epidemiologic survey has indicated a comparatively high prevalence of retinoblastoma (Rb) in Asian countries. Recently, the development of preventive strategies in nonfamilial Rb has become a major goal. The present studies were designed for identification and characterization of constitutional and somatic RB1 gene ... |
2,336,540 | Identification of novel cystinuria mutations and polymorphisms in SLC3A1 and SLC7A9 genes: absence of SLC7A10 gene mutations in cystinuric patients. | Cystinuria represents 3% of nephrolithiasis in humans with an overall prevalence of 1 in 7,000 neonates. Two genes have been reported to account for the genetic basis of cystinuria, the SLC3A1 and the SLC7A9. Recently, the possible involvement of the SLC7A10 gene in the genetic basis of the disorder was also reported. ... |
2,336,541 | Identification and characterization of variant alleles at CODIS STR loci. | Short tandem repeat (STR) profiles from 32,671 individuals generated by the ABI Profiler Plus and Cofiler systems were screened for variant alleles not represented within manufacturer-provided allelic ladders. A total of 85 distinct variants were identified at 12 of the 13 CODIS loci, most of which involve a truncated ... |
2,336,542 | The effects of skeletal preparation techniques on DNA from human and non-human bone. | The forensic pathologist increasingly relies on the forensic anthropologist to be the consulting expert in human identification. Likewise, if identification is not possible from visual inspection of skeletal remains, the forensic biologist may be called upon to conduct DNA analysis. The possibility of downstream DNA te... |
2,336,543 | Allometry for sexual size dimorphism: testing two hypotheses for Rensch's rule in the water strider Aquarius remigis. | Within any given clade, male size and female size typically covary, but male size often varies more than female size. This generates a pattern of allometry for sexual size dimorphism (SSD) known as Rensch's rule. I use allometry for SSD among populations of the water strider Aquarius remigis (Hemiptera, Gerridae) to te... |
2,336,544 | Developing unified theories in ecology as exemplified with diversity gradients. | A scientific field matures as its theoretical underpinnings consolidate around unified theories: conceptual structures consisting of a few general propositions that encompass a wide domain of phenomena and from which can be derived an array of models. We demonstrate this process with a synthetic theory of ecological gr... |
2,336,545 | Update on cancer vaccines. | Vaccination against cancer has had a variable history, with claims of success often fading into disappointment. The reasons for this include poor vaccine design, inadequate understanding of the nature of the immune response, and a lack of objective measures to evaluate performance. The impact of genetic technology has ... |
2,336,546 | Relationship between the extent of chromosomal losses and the pattern of CpG methylation in gastric carcinomas. | The extent of unilateral chromosomal losses and the presence of microsatellite instability (MSI) have been classified into high-risk (high- and baseline-level loss) and low-risk (low-level loss and MSI) stem-line genotypes in gastric carcinomas. A unilateral genome-dosage reduction might stimulate compensation mechanis... |
2,336,547 | Science and law. When should judges admit or compel genetic tests? | During the past two decades, the use of DNA tests has revolutionized court proceedings in criminal and paternity cases. On the horizon is a new challenge for judges--whether to admit or compel genetic tests to confirm or predict genetic diseases and conditions in many more judicial contexts, e.g., decisions regarding c... |
2,336,548 | Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease. | Several independent linkage studies have mapped a broad susceptibility region for Alzheimer's disease (AD) on the long arm of chromosome 10. There are several biological candidate genes in this region, including choline acetyltransferase (CHAT). A number of studies have examined the role of CHAT genetic variants with A... |
2,336,549 | Minimum prevalence of spinocerebellar ataxia 17 in the north east of England. | To determine the minimum prevalence of spinocerebellar ataxia type 17 (SCA17) in the north east of England.</AbstractText>A defined region containing 2,516,500 individuals with 192 families with undiagnosed ataxia, 90 patients with a Huntington's disease-like phenotype and 292 controls. The number of (CAG/CAA)(n) repea... |
2,336,550 | Genetics: uphold the rights of all clients to informed decision-making and voluntary action.<Pagination><StartPage>48</StartPage><EndPage>51</EndPage><MedlinePgn>48-51</MedlinePgn></Pagination><Abstract><AbstractText>This article discusses the rights of patients in relation to types of genetic tests and the broader imp... | This article discusses the rights of patients in relation to types of genetic tests and the broader implications for families. Use and misuse of genetic information is considered, including scenarios and points to consider. The use of a non-directive approach in genetic counselling is emphasised and multifactorial diso... |
2,336,551 | The impact of receiving genetic test results on general and cancer-specific psychologic distress among members of an African-American kindred with a BRCA1 mutation. | Numerous studies have examined short-term and long-term psychologic responses to genetic testing for breast/ovarian carcinoma susceptibility in clinic samples and among families who participated in genetic linkage studies. However, to the authors' knowledge, the vast majority of studies focused on non-Latino whites and... |
2,336,552 | Sensorineural hearing loss in children and adults with Williams syndrome. | Williams syndrome (WS) is a genetic neurodevelopmental disorder, most often accompanied by mild-to-moderate mental retardation. Individuals with WS show unique communication strengths and impairments that are challenging to treat in community, educational, and vocational settings. Many issues regarding characteristics ... |
2,336,553 | Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf. | Genetic and auditory studies of 731 children with severe-to-profound hearing loss in US schools for the deaf and 46 additional children receiving clinical services for hearing loss ranging from moderate to profound demonstrated that mutations in the connexin 26 (GJB2) and connexin 30 (GJB6) genes explain at least 12% o... |
2,336,554 | Mapping quantitative trait loci affecting variation in Drosophila triacylglycerol storage. | Recent genetic studies indicate that Drosophila melanogaster could be a powerful model to identify genes involved in mammalian adipocyte differentiation and fat storage. The objective of our study was to identify quantitative trait loci (QTLs) that contribute to variation in triacylglycerol (TAG) storage in two D. mela... |
2,336,555 | Shotgun haplotyping: a novel method for surveying allelic sequence variation. | Haplotypic sequences contain significantly more information than genotypes of genetic markers and are critical for studying disease association and genome evolution. Current methods for obtaining haplotypic sequences require the physical separation of alleles before sequencing, are time consuming and are not scaleable ... |
2,336,556 | Application of phylogenetic networks in evolutionary studies. | The evolutionary history of a set of taxa is usually represented by a phylogenetic tree, and this model has greatly facilitated the discussion and testing of hypotheses. However, it is well known that more complex evolutionary scenarios are poorly described by such models. Further, even when evolution proceeds in a tre... |
2,336,557 | How to establish a high-risk cancer genetics clinic: limitations and successes.<Pagination><StartPage>469</StartPage><EndPage>474</EndPage><MedlinePgn>469-74</MedlinePgn></Pagination><Abstract><AbstractText>The development of technology to locate and isolate cancer susceptibility genes has brought together the fields o... | The development of technology to locate and isolate cancer susceptibility genes has brought together the fields of oncology, cancer control, genetics, and genetic counseling to create a new specialty of cancer risk counseling with the goal to communicate more accurate information about personal cancer risk profiles bas... |
2,336,558 | Students investigating the antiproliferative effects of synthesized drugs on mouse mammary tumor cells. | The potential for personalized cancer management has long intrigued experienced researchers as well as the naïve student intern. Personalized cancer treatments based on a tumor's genetic profile are now feasible and can reveal both the cells' susceptibility and resistance to chemotherapeutic agents. In a weeklong ... |
2,336,559 | Predictive power of maternal serum and amniotic fluid CRP and PAPP-A concentrations at the time of genetic amniocentesis for the preterm delivery. | To investigate whether maternal serum and amniotic fluid CRP and PAPP-A concentrations at the time of genetic amniocentesis are markers of preterm delivery.</AbstractText>One hundred and forty-one pregnant women were included in this prospective study. Amniotic fluid and maternal serum CRP and PAPP-A concentrations wer... |
2,336,560 | Methods for the isolation and identification of Listeria spp. and Listeria monocytogenes: a review. | Listeria monocytogenes is an important food-borne pathogen and is widely tested for in food, environmental and clinical samples. Identification traditionally involved culture methods based on selective enrichment and plating followed by the characterization of Listeria spp. based on colony morphology, sugar fermentatio... |
2,336,561 | Breast cancer and ovarian cancer genetics. | Breast and ovarian cancers are the second and fifth leading causes of cancer death, respectively, among women in the United States. Individuals with breast cancer have a 20--30% chance of having at least one relative with the disease. However, only 5--10% of the cases are a direct result of germline mutations in highly... |
2,336,562 | Efficient in vivo xenogeneic retroviral vector-mediated gene transduction into human hepatocytes. | We developed a method for efficient retroviral vector-mediated gene transfer into human hepatocytes, using a human hepatocyte-bearing mouse model. Normal human hepatocytes were transplanted into the livers of immunodeficient and liver-damaged mice. Donor hepatocytes multiplied and replaced the host hepatocytes, which y... |
2,336,563 | Manifestations of cystic fibrosis diagnosed in adulthood. | This review highlights the phenotypic features that lead to the diagnosis of cystic fibrosis in adults, and the prognosis of these patients.</AbstractText>With the widespread availability of genetic testing and a greater appreciation of the clinical spectrum of the disease, the diagnosis of cystic fibrosis is being mad... |
2,336,564 | A new congenital form of X-linked autophagic vacuolar myopathy. | In a new family with X-linked congenital autophagic vacuolar myopathy (AVM), seven affected boys presented with congenital hypotonia, dyspnea, and dysphagia with delayed motor milestones. Muscle pathology revealed autophagic vacuoles with sarcolemmal features, multilayered basal lamina with marked sarcolemmal depositio... |
2,336,565 | Analysis of mutation of the plasma cholinesterase gene in a man who had died following a traffic accident. | We analyzed mutation of the butyrylcholinesterase (BCHE) gene in a 69-year-old man on whom a forensic autopsy had been performed after he had died following a traffic accident. Extremely low plasma cholinesterase activity had been pointed out by the emergency doctor at the hospital prior to his death and based on this,... |
2,336,566 | Identification of gene markers based on well validated and subcategorized stressed animals for potential clinical applications in PTSD. | Post-traumatic stress disorder (PTSD) is a complex mental disorder that can develop in response to traumatic experiences. The molecular mechanisms underlying the pathology of PTSD are poorly understood, and this lack of knowledge hampers our ability to find superior therapeutic approaches to the treatment of this disor... |
2,336,567 | In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene. | The LIM kinase1 protein (LIMK1) is thought to be involved in neuronal development and brain function. However, its role in spatial cognition in individuals with Williams syndrome (WS) is currently ambiguous, with conflicting reports on the cognitive phenotypes of individuals who do not have classic WS but harbour parti... |
2,336,568 | Host microsatellite alleles in malaria predisposition? | Malaria is a serious, sometimes fatal, disease caused by Plasmodium infection of human red blood cells. The host-parasite co-evolutionary processes are well understood by the association of coding variations such as G6PD, Duffy blood group receptor, HLA, and beta-globin gene variants with malaria resistance. The profou... |
2,336,569 | [Genetic polymorphism of Y-chromosome short tandem repeat in Elunchun ethnic group of China]. | To reveal the allelic frequencies and haplotype frequencies of ten Y-chromosome short tandem repeats(STR) loci (DYS392, DYS438, DYS439, DYS456, DYS459, DYS460,DYS461, DYS462, DYS389I and DYS389II systems) in an Elunchun population sample.</AbstractText>PCR and polyacrylamidegel electrophoresis(PAGE) followed by silver ... |
2,336,570 | Single nucleotide polymorphisms detection based on DNA microarray technology: HLA as a model. | The significance of DNA variations among individuals, including single nucleotide polymorphisms (SNPs) and/or genome nucleotide mutations as well as to their detection by using new technology, will improve and facilitate the knowledge of each gene sequence. Microarray may provide information about thousands of gene sim... |
2,336,571 | Forensic potential of the STR DXYS156 in Mexican populations: inference of X-linked allele null. | The pentanucleotide STR (TAAAA)n DXYS156 offers advantages for genetic identity testing. In addition to establish the gender, DXYS156 expands the DNA profile and is able to indicate the possible geographic origin of the individual. We analyzed DXYS156 in 757 individuals of both sexes from Mexican populations. We studie... |
2,336,572 | Asthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based study. | Carriers of cystic fibrosis intron-8 5T alleles with high exon-9 skipping could have increased annual lung function decline and increased risk for asthma or chronic obstructive pulmonary disease (COPD).</AbstractText>We genotyped 9131 individuals from the adult Danish population for cystic fibrosis 5T, 7T, 9T, and F508... |
2,336,573 | Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria. | Acute intermittent porphyria (AIP) is a metabolic disease due to a partial deficiency of hydroxymethylbilane synthase (HMBS) in heme biosynthesis. Direct sequencing of genomic DNA samples of 11 unrelated Russian AIP patients, 32 of their relatives and 50 healthy controls from northwestern Russia including Saint Petersb... |
2,336,574 | Transition of the pregnancy rate of bisected bovine embryos after co-transfer with trophoblastic vesicles prepared from in vivo-cultured in vitro-fertilized embryos. | Bisected bovine embryos were co-transferred with trophoblastic vesicles (TVs). These TVs were prepared by dissection of conceptuses that were collected by uterine flushing after culture for seven days in the uterus following transfer of embryos derived by in vitro fertilization (IVF). Pregnancy diagnoses were performed... |
2,336,575 | Genetic testing and its implications: human genetics researchers grapple with ethical issues. | To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of s... |
2,336,576 | An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias. | The aim of this paper is to give an overview of our current state of knowledge with respect to genotyping for the primary hyperoxalurias and the role of molecular genetics alongside the more traditional biochemical and enzymatic tests for the diagnosis and prognosis of these disorders. The published literature was revi... |
2,336,577 | Genetic algorithm for analysis of mutations in Parkinson's disease. | Mitochondrial genetics has unique features that impede analysis of the biological significance of mitochondrial mutations. Simple searches for differences in total mutational load between normal and pathological samples have been frequently unrewarding, raising the possibility that more complex patterns of mutations ma... |
2,336,578 | Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease. | We have initiated a systematic analysis of the role of cholesterol metabolizing genes as risk factors for Alzheimer's disease pathogenesis. As part of this analysis, we have assessed the NR1H2 gene on chromosome 19 and report here a modest association with the locus in sibpairs with late onset disease. |
2,336,579 | Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease. | Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus-Merzbacher disease.PMD is an X-linked recessive disorder due to a proteolipid protein (PLP) deficiency. Duplications of PLP gene were shown to be the principle cause of the disorder, accounting for an estimated 50-70% of cases. To define a ... |
2,336,580 | Discrepancies in upper and lower limb patterning in split hand foot malformation. | Discrepancies in upper and lower limb patterning in split hand foot malformation. Split hand foot malformation (SHFM) is genetically heterogeneous with five loci mapped to date. Highly variable in presentation, it can occur as an isolated finding or with other anomalies. The genetic heterogeneity and clinical variabili... |
2,336,581 | Subtelomeric chromosome aberrations: still a lot to learn. | Subtelomeric chromosome aberrations: still a lot to learn.Cryptic subtelomeric chromosome aberrations are a significant cause of mental retardation (MR). More than 4000 patients have been investigated, and the mean overall prevalence of subtelomeric rearrangements has been found to be 5.2%. In order to contribute to kn... |
2,336,582 | Screening CYP3A single nucleotide polymorphisms in a Han Chinese population with a genotyping chip. | Human cytochrome P450 (CYP)3A is a major P450 enzyme found in the liver and gastrointestinal tract. It plays an important role in the metabolism of a wide variety of drugs, some endogenous steroids and harmful environmental contaminants. It has been shown that CYP3A alleles encoding enzymes with little or no activity a... |
2,336,583 | beta2-Adrenergic receptor polymorphisms and asthma in the North Indian population. | The beta(2)-adrenergic receptor (ADRB2) polymorphisms are known to be functionally relevant and disease modifying in subjects with asthma. However, the association of these polymorphisms with asthma remains to be established. Our objective is to investigate the association of the ADRB2 polymorphisms and haplotypes with... |
2,336,584 | Inherited polyposis syndromes: molecular mechanisms, clinicopathology, and genetic testing. | The inherited polyposis syndromes are a group of conditions in which multiple gastrointestinal polyps occur in the lumen of the gastrointestinal tract, most exhibit an increased risk of colon cancer. Benign and malignant extraintestinal tumors might also be observed. Recent elucidation of the underlying gene mutations ... |
2,336,585 | The person-affecting restriction, comparativism, and the moral status of potential people.<Pagination><StartPage>185</StartPage><EndPage>195</EndPage><MedlinePgn>185-95</MedlinePgn></Pagination><Abstract><AbstractText>Traditional ethical theories have paradoxical implications in regards to questions concerning procreat... | Traditional ethical theories have paradoxical implications in regards to questions concerning procreation and our moral duties to future people. It has been suggested that the crux of the problem resides in an all too 'impersonal' axiology and that the problems of population axiology can be solved by adopting a 'Person... |
2,336,586 | [The significance of screening tests for aneuploidies in populations at low and high maternal-age-related risk]. | The aim of this study was to evaluate the validity of the triple test and the screen test in maternal populations at low and high maternal-age-related risk for fetal aneuploidy.</AbstractText>As a whole, 9,680 pregnant women at low risk and 627 at high risk underwent the triple test; 2,780 pregnant women at low risk an... |
2,336,587 | Clinicopathological features of and risk factors for multiple primary melanomas. | The incidence of multiple primary melanomas ranges from 1.3% to 8.0% in large retrospective reviews; however, the impact of certain risk factors is not understood.</AbstractText>To determine the incidence of multiple primary melanomas (MPM) from a prospective, single-institution, multidisciplinary database, and to desc... |
2,336,588 | Posttraumatic stress associated with cancer history and BRCA1/2 genetic testing. | A subset of women who are at elevated cancer risk due to family history exhibit evidence of cancer-specific distress. These stress responses may represent symptoms of posttraumatic stress disorder (PTSD). The present study assessed rates of PTSD related to personal or family cancer history and BRCA1/2 testing.</Abstrac... |
2,336,589 | Screening primary care patients for hereditary hemochromatosis with transferrin saturation and serum ferritin level: systematic review for the American College of Physicians. | Therapeutic phlebotomy for hereditary hemochromatosis is relatively safe and presumably efficacious when offered before cirrhosis develops, so screening primary care patients is of substantial interest.</AbstractText>To conduct a systematic review of the evidence on 1) the prevalence of the disease in primary care, 2) ... |
2,336,590 | Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. | Hereditary hemochromatosis is a genetic disorder of iron metabolism. Diagnosis of hereditary hemochromatosis is usually based on a combination of various genetic or phenotypic criteria. Decisions regarding screening are difficult because of the variable penetrance of mutations of the HFE gene and the absence of any def... |
2,336,591 | Association Cluster Detector: a tool for heuristic detection of significance clusters in whole-genome scans. | Whole genome scans analyze large sets of genetic markers, mainly single nucleotide polymorphisms, over the entire genome in order to find variants and regions associated with complex traits so these can be further investigated. Analyzing the results of such scans becomes difficult due to multiple testing problems and t... |
2,336,592 | Analyzing microarray data using quantitative association rules. | We tackle the problem of finding regularities in microarray data. Various data mining tools, such as clustering, classification, Bayesian networks and association rules, have been applied so far to gain insight into gene-expression data. Association rule mining techniques used so far work on discretizations of the data... |
2,336,593 | Detection of the placental epigenetic signature of the maspin gene in maternal plasma. | The discovery of fetal DNA in the plasma of pregnant women has opened up new approaches for noninvasive prenatal diagnosis and monitoring. Up to now, the lack of a fetal DNA marker that can be universally detected in maternal plasma has limited the clinical application of this technology. We hypothesized that epigeneti... |
2,336,594 | Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. | Identification of the genetic basis of common disease may require comprehensive sequence analysis of coding regions and regulatory elements in patients and controls to find genetic effects caused by rare or heterogeneous mutations. In this study, we demonstrate how mismatch repair detection on tag arrays can be applied... |
2,336,595 | Whole genome linkage scan of recurrent depressive disorder from the depression network study. | Genome-wide linkage analysis was carried out in a sample of 497 sib pairs concordant for recurrent major depressive disorder (MDD). There was suggestive evidence for linkage on chromosome 1p36 where the LOD score for female-female pairs exceeded 3 (but reduced to 2.73 when corrected for multiple testing). The region in... |
2,336,596 | Chronic beryllium disease and sensitization at a beryllium processing facility. | We conducted a medical screening for beryllium disease of 577 former workers from a beryllium processing facility. The screening included a medical and work history questionnaire, a chest radiograph, and blood lymphocyte proliferation testing for beryllium. A task exposure and a job exposure matrix were constructed to ... |
2,336,597 | Construction and in vitro characterization of a chimeric simian and human immunodeficiency virus with the RANTES gene. | Chimeric simian-human immunodeficiency virus (SHIV) containing the env gene of HIV-1 infects macaque monkeys and provides basic information that is useful for the development of HIV-1 vaccines. Regulated-on-activation-normal-T-cell-expressed-and-secreted (RANTES), a CC-chemokine, enhances antigen-specific T helper type... |
2,336,598 | Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. | To describe the development and follow-up confirmatory results of the routine cystic fibrosis (CF) newborn screening (NBS) program in Wisconsin.</AbstractText>CF NBS has been performed on a routine clinical basis in Wisconsin since July 1994. The 2-tiered immunoreactive trypsinogen (IRT)/DNA technique was used on dried... |
2,336,599 | Understanding newborn screening system issues with emphasis on cystic fibrosis screening. | Newborn screening (NBS) includes biochemical testing for certain medical conditions that can cause devastating consequences if left undetected and untreated. Mandated screening requires a complex support system to ensure its effectiveness. There are 51 separate NBS programs in the United States, all with different admi... |
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