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2,339,100 | A comprehensive evaluation of multicategory classification methods for microarray gene expression cancer diagnosis. | Cancer diagnosis is one of the most important emerging clinical applications of gene expression microarray technology. We are seeking to develop a computer system for powerful and reliable cancer diagnostic model creation based on microarray data. To keep a realistic perspective on clinical applications we focus on mul... |
2,339,101 | [Characterisation of the gene expression profiles in the inner ear and the colliculus inferior of normal and deafened rats by gene-array-technology]. | The phenotype of deafness and its mechanisms are morphologically and electrophysiologically well characterised. However, the molecular mechanisms and the consequences of deafness are poorly understood.</AbstractText>In this study we investigated changes in gene expression profiles in subfractions of the cochlea and the... |
2,339,102 | Carrier incidence for spinal muscular atrophy in southern Chinese. | A real time quantitative PCR (QPCR) method using TaqMan technology was used to assess the copy number of the two survival motor neuron genes (SMN1 and SMN2) on chromosome 5q13. This allows the accurate determination of carriers for spinal muscular atrophy (SMA), with one copy of SMN1. Analysis of 569 normal southern Ch... |
2,339,103 | Influence of functional polymorphisms of the MDR1 gene on vincristine pharmacokinetics in childhood acute lymphoblastic leukemia. | Our objective was to investigate the effect of single nucleotide polymorphisms (SNPs) in the P-glycoprotein MDR1 gene on vincristine pharmacokinetics and side effects in childhood acute lymphoblastic leukemia.</AbstractText>From 52 of 70 children who participated in a previous study on vincristine pharmacokinetics, pat... |
2,339,104 | Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis. | To assess practices of obstetrician-gynecologists regarding carrier screening for cystic fibrosis (CF).</AbstractText>A questionnaire investigating practice patterns and opinions pertaining to CF screening was mailed to 1165 members of the American College of Obstetricians and Gynecologists (ACOG), of whom 565 particip... |
2,339,105 | Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening. | Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in complex risk calculations. We previously developed generalizable Bayesian methods to calculate the autosomal recessive disease risk of a fetus when one or no mutation is detected, and another, inde... |
2,339,106 | Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology. | To validate a novel BeadChip assay system for cystic fibrosis (CF) mutation testing using the panel of 25 ACMG recommended mutations and D1152H.</AbstractText>DNA from 519 individuals originally tested for CF mutation status by allele specific oligonucleotide hybridization (ASOH) were blindly analyzed by the BeadChip a... |
2,339,107 | Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population. | Since the early 1990s, Dor Yeshorim (DY) and the Mount Sinai School of Medicine (MSSM) have conducted premarital and prenatal carrier screening for cystic fibrosis (CF) in the Ashkenazi Jewish (AJ) population as part of their genetic testing programs, respectively. Together, over 170,000 screenees have been tested. In ... |
2,339,108 | Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. | To estimate CFTR mutation frequencies, clinical sensitivities (proportions of carrier couples or affected fetuses detected), and birth prevalence estimates for broad racial/ethnic groups and for a panethnic U.S. population.</AbstractText>Published sources of information were identified, corrected when appropriate, and ... |
2,339,109 | Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses. | To evaluate and quantify indications for CFTR mutation analysis of prenatal specimens, and to determine if a significant portion of tests are performed only for the identification of 5T alleles, we surveyed our laboratory data over a 3-year time period that spanned the issuance of the cystic fibrosis (CF) carrier scree... |
2,339,110 | CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations. | We reviewed CFTR mutation distribution among Hispanic and African American individuals referred for CF carrier screening and compared mutation frequencies to those derived from CF patient samples.</AbstractText>Results from CFTR mutation analyses received from January 2001 through September 2003, were analyzed for four... |
2,339,111 | Early onset hereditary papillary renal carcinoma: germline missense mutations in the tyrosine kinase domain of the met proto-oncogene. | Hereditary papillary renal carcinoma (HPRC) is characterized by a predisposition to multiple, bilateral papillary type 1 renal tumors caused by inherited activating missense mutations in the tyrosine kinase domain of the MET proto-oncogene. In the current study we evaluated the clinical phenotype and germline MET mutat... |
2,339,112 | Association of Fc gamma receptor IIA polymorphisms with acute renal-allograft rejection. | Acute rejection is a leading cause of early renal-allograft failure. The human Fc gamma receptor IIA (FcgammaRIIA) forms an essential link between the humoral branch and the effector cells of the immune system. In this study, we examined FcgammaRIIA genotypes in renal-allograft recipients (rejectors) with acute graft r... |
2,339,113 | Tree scanning: a method for using haplotype trees in phenotype/genotype association studies. | We use evolutionary trees of haplotypes to study phenotypic associations by exhaustively examining all possible biallelic partitions of the tree, a technique we call tree scanning. If the first scan detects significant associations, additional rounds of tree scanning are used to partition the tree into three or more al... |
2,339,114 | Testing for Hardy-Weinberg equilibrium in samples with related individuals. | When the classical chi(2) goodness-of-fit test for Hardy-Weinberg (HW) equilibrium is used on samples with related individuals, the type I error can be greatly inflated. In particular the test is inappropriate in population isolates where the individuals are related through multiple lines of descent. In this article, w... |
2,339,115 | A novel KERA mutation associated with autosomal recessive cornea plana. | To report a novel KERA mutation associated with autosomal recessive cornea plana in members of a nuclear family and to describe their ophthalmic phenotypes.</AbstractText>Ophthalmic examination, biometry, and direct sequencing of KERA.</AbstractText>Five of the 6 siblings were affected and had small flat corneas, varia... |
2,339,116 | Translating emerging research on the genetics of smoking into clinical practice: ethical and social considerations. | Despite decades of research aimed at improving the effectiveness of smoking treatment, available treatments are only modestly effective, and smoking remains the leading cause of preventable deaths in the United States. Recent research on genetic factors related to smoking behavior eventually may lead to the design of n... |
2,339,117 | Human papilloma virus type 16 infection and the early onset of cervical cancer. | Human papilloma viruses (HPV), particularly type 16, have been associated with cervical cancer. It has been noted that the average onset of cervical cancer is occurring in younger women coupled with a higher prevalence of cervical HPV infection. However, the correlation between HPV 16 infection and the early onset of c... |
2,339,118 | A high-resolution radiation hybrid map of chicken chromosome 5 and comparison with human chromosomes. | The resolution of radiation hybrid (RH) maps is intermediate between that of the genetic and BAC (Bacterial Artificial Chromosome) contig maps. Moreover, once framework RH maps of a genome have been constructed, a quick location of markers by simple PCR on the RH panel is possible. The chicken ChickRH6 panel recently p... |
2,339,119 | The role of haplotypes in candidate gene studies. | Human geneticists working on systems for which it is possible to make a strong case for a set of candidate genes face the problem of whether it is necessary to consider the variation in those genes as phased haplotypes, or whether the one-SNP-at-a-time approach might perform as well. There are three reasons why the pha... |
2,339,120 | An exact maternal-fetal genotype incompatibility (MFG) test. | The maternal-fetal genotype incompatibility (MFG) test can be used for a variety of genetic applications concerning disease risk in offspring including testing for the presence of alleles that act directly through offspring genotypes (child allelic effects), alleles that act through maternal genotypes (maternal allelic... |
2,339,121 | Examination of the SGCE gene in Tourette syndrome patients with obsessive-compulsive disorder. | Mutations in the epsilon-sarcoglycan gene (SGCE) have been reported in families with myoclonus-dystonia (M-D). In addition to abnormal movements, obsessive-compulsive disorder (OCD) has also been described in families with M-D. OCD is a common feature in another movement disorder, namely Tourette syndrome (TS). The com... |
2,339,122 | Early hearing detection and intervention programs: opportunities for genetic services. | Congenital hearing loss is relatively frequent and has serious negative consequences if it is not diagnosed and treated during the first few months of life. Babies with hearing loss who are identified early and provided with appropriate intervention develop better language, cognitive, and social skills. As a result of ... |
2,339,123 | Attitudes of deaf individuals towards genetic testing. | Recent advances have made molecular genetic testing for several forms of deafness more widely available. Previous studies have examined the attitudes of the deaf towards genetic testing, including prenatal diagnosis. This study examines the attitudes of deaf college students towards universal newborn hearing screening,... |
2,339,124 | Genetic heterogeneity in Usher syndrome. | Mutations in seven different genes have been associated with Usher syndrome, and an additional four loci have been mapped. The identified genes encode myosin VIIa, harmonin (a PDZ-domain protein), cadherin 23, protocadherin 15, sans (a scaffold-like protein), usherin and clarin. Three clinical types of Usher syndrome h... |
2,339,125 | Clinical application of genetic testing for deafness. | Advances in the molecular biology of hearing and deafness have identified many genes essential for normal auditory function. Allele variants of these genes cause nonsyndromic deafness, making mutation screening a valuable test to unequivocally diagnose many different forms of inherited deafness. In this study, genetic ... |
2,339,126 | Association of paraoxonase 1 gene polymorphisms with risk of Parkinson's disease: a meta-analysis. | Paraoxonase1 (PON1) gene polymorphisms were implicated as risk factors for Parkinson's disease (PD), but the results of case-control studies that investigated these associations were controversial. In order to provide an answer to these contradictory results, a meta-analysis of all available studies relating the PON1-5... |
2,339,127 | A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. | Mutations in CDH1, which encodes E-cadherin, have been associated with hereditary diffuse gastric cancer (HDGC) in Western populations but have not been shown to play a major role in Asians. Recently, a patient with familial gastric cancer (FGC) was shown to harbor a germline mutation in the TP53 gene, which encodes p5... |
2,339,128 | Use of real-time PCR for determining copy number and zygosity in transgenic plants. | This review examines how real-time PCR can be used to determine copy number and zygosity in transgenic plants. Distinguishing between plants that harbor one and two copies of a transgene or are hemizygous and homozygous requires the ability to routinely distinguish twofold differences, a detection difference which appr... |
2,339,129 | Genetic screening of infertile men. | Male infertility is an extraordinarily common medical condition, affecting 1 in 20 men. According to the World Health Organization, this condition is now considered to be a complex disease involving physical, genetic and environmental factors. With continuing advances in our understanding of male reproductive physiolog... |
2,339,130 | Causes of azoospermia and their management. | Azoospermia may occur because of reproductive tract obstruction (obstructive azoospermia) or inadequate production of spermatozoa, such that spermatozoa do not appear in the ejaculate (non-obstructive azoospermia). Azoospermia is diagnosed based on the absence of spermatozoa after centrifugation of complete semen speci... |
2,339,131 | Does heterozygosity estimate inbreeding in real populations? | Many recent studies report that individual heterozygosity at a handful of apparently neutral microsatellite markers is correlated with key components of fitness, with most studies invoking inbreeding depression as the likely underlying mechanism. The implicit assumption is that an individual's inbreeding coefficient ca... |
2,339,132 | Germline MUTYH (MYH) mutations in Portuguese individuals with multiple colorectal adenomas. | Germinal mutations in the base excision repair (BER) gene MUTYH (MYH) have recently been described in association with predisposition to multiple colorectal adenomas and cancer. In contrast to the classic dominant condition of familial adenomatous polyposis (FAP) due to germinal mutations in the APC gene, the MYH polyp... |
2,339,133 | Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. | In ethnic heterogeneous California, complete genetic information is currently lacking to build solid population-based cystic fibrosis (CF) screening programs because a large proportion of mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR/ABCC7) are still unknown, especially in non-Caucasia... |
2,339,134 | GJB2: the spectrum of deafness-causing allele variants and their phenotype. | Genetic testing was completed on 1,294 persons with deafness referred to the Molecular Otolaryngology Research Laboratories to establish a diagnosis of DFNB1. Exon 2 of GJB2 was screened for coding sequence allele variants by denaturing high-performance liquid chromatography (DHPLC) complemented by bidirectional sequen... |
2,339,135 | Women, pregnancy and serendipity: a personal story about the discovery of HLA. | The discovery of HLA was an adventure in many ways very much like the discovery of a new continent with many people entering it from different angles. This has been a truly global effort with laboratories from all over the world voluntarily collaborating. The picture that finally emerged of a highly complex genetic sys... |
2,339,136 | Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases. | Trinucleotide repeat (TNR) expansion in the gene for TATA binding protein (TBP) has recently been described as causal for spinocerebellar ataxia type 17. The normal number of repeats has been considered to be 42 or less. An intermediate range with reduced penetrance has been assumed to be 43-47 CAA/CAG repeats. We exam... |
2,339,137 | A major QTL conditioning salt tolerance in S-100 soybean and descendent cultivars. | Deployment of salt tolerant cultivars is an effective approach to minimize yield loss in a saline soil. In soybean, Glycine max (L.) Merr., substantial genetic variation exists for salt response. However, breeding for salt tolerance is hampered because no economically viable screening method has been developed for prac... |
2,339,138 | Antimicrobial susceptibilities of invasive pediatric Abiotrophia and Granulicatella isolates. | Abiotrophia and Granulicatella species have been associated with various infections. Antimicrobial susceptibility data for these nutritionally variant streptococcus-like organisms, especially for pediatric isolates, are very limited. Little is known about the genetic bases of their resistance mechanisms. We report the ... |
2,339,139 | Real-time fluorescence PCR assays for detection and characterization of heat-labile I and heat-stable I enterotoxin genes from enterotoxigenic Escherichia coli. | To facilitate the diagnosis of enterotoxigenic Escherichia coli (ETEC) infections in humans, we developed and evaluated real-time fluorescence PCR assays for the Roche LightCycler (LC) against the enterotoxin genes commonly present in strains associated with human illness. Separate LC-PCR assays with identical cycling ... |
2,339,140 | Plasmin deficiency does not alter endogenous murine amyloid beta levels in mice. | Deposition of amyloid beta (A beta) into extracellular plaques is a pathologic characteristic of Alzheimer's disease. Plasmin, neprilysin, endothelin-converting enzyme and insulin-degrading enzyme (IDE) have each been implicated in A beta degradation; data supporting the role of the latter three enzymes have included i... |
2,339,141 | Autosomal dominant congenital nystagmus is not linked to 6p12, 7p11, and 15q11 in a German family. | Congenital nystagmus (CN) is an eye-movement disorder that usually starts within the first months of life. Autosomal dominant, autosomal recessive, and X-chromosomal pedigree patterns are observed. Causative genes are yet unknown. Several loci were implicated to contain disease-relevant genes for autosomal dominant CN ... |
2,339,142 | Cell mediated immune response elicited in mice after immunization with the P64k meningococcal protein: epitope mapping. | The P64k protein of Neisseria meningitidis has been reported as an immunological carrier for weak immunogens. This investigation was aimed at characterizing the T-cell response produced in primed mice and at identifying T helper cell epitopes within this molecule. BALB/c mice subcutaneously immunized with the recombina... |
2,339,143 | Data mining techniques for cancer detection using serum proteomic profiling. | Pathological changes in an organ or tissue may be reflected in proteomic patterns in serum. It is possible that unique serum proteomic patterns could be used to discriminate cancer samples from non-cancer ones. Due to the complexity of proteomic profiling, a higher order analysis such as data mining is needed to uncove... |
2,339,144 | Only one of the two annotated Lactococcus lactis fabG genes encodes a functional beta-ketoacyl-acyl carrier protein reductase. | The small genome of the Gram-positive bacterium Lactococcus lactis ssp. lactis IL1403 contains two genes that encode proteins annotated as homologues of Escherichia coli beta-hydroxyacyl-acyl carrier protein (ACP) reductase. E. coli fabG encodes beta-ketoacyl-acyl carrier protein (ACP) reductase, the enzyme responsible... |
2,339,145 | Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). | As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. W... |
2,339,146 | Relational ethics and genetic counseling. | Genetic counseling is viewed as a therapeutic interrelationship between genetic counselors and their clients. In a previous relational ethics research project, various themes were identified as key components of relational ethics practice grounded in everyday health situations. In this article the relational ethics app... |
2,339,147 | The diagnostic significance of the detection of cytokeratin 19 mRNA by quantitative RT-PCR in benign and malignant pleural effusions. | To evaluate the diagnostic significance of detecting cytokeratin 19 (CK19) mRNA by quantitative reverse transcription polymerase chain reaction (RT-PCR) in benign and malignant pleural effusions.</AbstractText>CK19 mRNA was examined by quantitative RT-PCR and CK19 was detected by Enzyme-linked immunoadsorbent assay (EL... |
2,339,148 | [The supply of breast/ovarian cancer genetic susceptibility tests in France]. | One example of the recent advances of scientific research on the human genome is the identification of two susceptibility genes to breast/ovarian cancer, BRCA1 and BRCA2, making possible the introduction in medical practices of genetic testing to detect patients with an increased risk of developing such cancers. In thi... |
2,339,149 | Genetic practice, education, and research: an overview for advanced practice nurses. | <AbstractText Label="PURPOSE/OBJECTIVES" NlmCategory="OBJECTIVE">The purpose of this article is to describe how the new genomic era will affect advanced practice registered nurses (APRNs) patient care, education, and research.</AbstractText><AbstractText Label="BACKGROUND/RATIONALE" NlmCategory="BACKGROUND">Given the e... |
2,339,150 | [A family of acute intermittent porphyria]. | A 62-year-old man who had twice received laparotomies for abdominal pain of unknown origin was admitted to our hospital with acute abdominal pain. His family history of acute intermittent porphyria (AIP) suggested that it arose from acute porphyria. We treated the patient with 5% glucose solution by i.v. drip infusion ... |
2,339,151 | Macrophage-specific overexpression of human matrix metalloproteinase-12 in transgenic rabbits. | Increased matrix metalloproteinase-12 (MMP-12) has been implicated in atherosclerosis and many other inflammatory processes. To define MMP-12 functions in vivo, we generated transgenic rabbits that expressed human (h) MMP-12 gene under the control of a macrophage-specific promoter, the human scavenger receptor promoter... |
2,339,152 | Genetic aspects of Alzheimer's disease, Pick's disease, and other dementias. | Although genetic testing is available for some degenerative diseases, in most types of dementia, both genetic and environmental factors are involved. Overall, dementing diseases can be either sporadic or inherited, and in general, the earlier the onset, the more likely a disease is to be inherited. Before genetic testi... |
2,339,153 | Identifying patterns of DNA for tumor diagnosis using capillary electrophoresis-amplified fragment length polymorphism (CE-AFLP) screening. | Amplified Fragment Length Polymorphism (AFLP) screening is a genome-wide genotyping strategy that has been widely used in plants and bacteria, but little has been reported concerning its use in humans. We investigated if the AFLP procedure could be coupled with high-throughput capillary electrophoresis (CE) for use in ... |
2,339,154 | Genotypic and phenotypic biomarker profiles for individual risk assessment and cancer detection (lessons from bladder cancer risk assessment in symptomatic patients and workers exposed to benzidine). | There is a need for improved methods for detecting individuals at risk for cancer to target subsets of patients for more intensive individual screening and targeted cancer therapy and chemoprevention. One approach for accomplishing this objective is to detect premalignant molecular fingerprints in an organ at risk for ... |
2,339,155 | Alternatives to growth hormone stimulation testing in children. | Despite more than 40 years of pediatric growth hormone (GH) replacement, we are still limited in our ability to make a definitive diagnosis of GH deficiency (GHD) in children. Historically, GH stimulation tests (GHSTs) have been used to discriminate between GHD and idiopathic short stature. Over the years, increases in... |
2,339,156 | Oculomotor control in asymptomatic and recently diagnosed individuals with the genetic marker for Huntington's disease. | We compared oculomotor control among individuals in the early stages of Huntington's disease (HD), with that of individuals who are presymptomatic HD gene carriers (PSGC) and nongene carriers (NGC). The oculomotor testing paradigm included both traditional tests and a novel experimental procedure to assess visual scann... |
2,339,157 | Informativeness of linkage analysis for genetic diagnosis of haemophilia A in India. | The objective of this study was to assess the frequency of factor VIII (FVIII) gene intron 1 and intron 22 inversions and the informativeness of polymorphic markers for the genetic diagnosis of patients with haemophilia A (HA). Fifty unrelated patients with HA were first assessed for the intron 1 and intron 22 inversio... |
2,339,158 | A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens. | Cystic fibrosis is the most common autosomal disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the ... |
2,339,159 | Isolation from cochlea of a novel human intronless gene with predominant fetal expression. | We have cloned a novel human gene, designated PFET1 (predominantly fetal expressed T1 domain) (HUGO-approved symbol KCTD12 or C13orf2), by subtractive hybridization and differential screening of human fetal cochlear cDNA clones. Also, we have identified the mouse homolog, designated Pfet1. PFET1/Pfet1 encode a single t... |
2,339,160 | [Genetics in movement disorders--dystonia, tremor and chorea]. | Several dystonias, Huntington's disease, essential tremor and various rare conditions are among the hereditary movement disorders, disorders with considerable genetic and clinical heterogeneity. It may be hoped that better understanding of the genetics and pathogenetic mechanisms involved will improve management.</Abst... |
2,339,161 | A novel mutation in IFN-gamma receptor 2 with dominant negative activity: biological consequences of homozygous and heterozygous states. | We identified two siblings homozygous for a single base pair deletion in the IFN-gammaR2 transmembrane domain (791delG) who presented with multifocal Mycobacterium abscessus osteomyelitis (patient 1) and disseminated CMV and Mycobacterium avium complex infection (patient 2), respectively. Although the patients showed n... |
2,339,162 | Current advances in the human lupus genetics. | Genetic predisposition has been firmly established as a key element in susceptibility to systemic lupus erythematosus (SLE). During the past three decades, association studies have assessed many genes for potential roles in predisposing to SLE. These studies have identified a few risk factors including hereditary defic... |
2,339,163 | Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2. | One of the major goals of genetic testing is the reduction of morbidity and mortality. Given the appropriate circumstances, this can result in reduction in health care costs. Such savings can be demonstrated most effectively in large families with mutations in well characterized, dominantly acting genes. In our large f... |
2,339,164 | Genetic discrimination: the clinician perspective. | Clinicians attending continuing education sessions in California were surveyed about their beliefs and attitudes regarding genetic discrimination and their knowledge of protective legislation. Two hundred seventy-one surveys were collected from physicians (n = 191) and nurses (n = 80). Most respondents lacked informati... |
2,339,165 | Will the new cytogenetics replace the old cytogenetics? | With the advent of array-based comparative genomic hybridization technology, the analog cytogenetic analysis that has been used for the past 100 years could be replaced by the quantitative, microarray-based molecular analysis. Major advantages of the new array-based cytogenetic technologies are the high resolution and ... |
2,339,166 | Prevalence of drug resistance and newly recognised treatment-related substitutions in the HIV-1 reverse transcriptase and protease genes from HIV-positive patients naïve for anti-retrovirals. | The aim of this study was to assess the prevalence of genetic changes in either the HIV reverse transcriptase (RT) or protease (Pro) genes in a cohort of patients naïve for anti-retroviral therapy. Of 61 patients, 43 (70.5%) were infected with HIV strains harbouring at least one resistance-related mutation, with 4... |
2,339,167 | An analysis of reference laboratory (send out) testing: an 8-year experience in a large academic medical center.<Pagination><StartPage>216</StartPage><EndPage>219</EndPage><MedlinePgn>216-9</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Utilization of outside reference labo... | Parkinson's disease (PD) is characterized by selective degeneration of neurons in the substantia nigra and subsequent dysfunction of dopaminergic neurotransmission. Genes identified in familial forms of PD encode proteins that are linked to the ubiquitin-proteasome system indicating the pathogenic relevance of disturbe... |
2,339,168 | Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory. | To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts.</AbstractText>A database containing more than 100,000 genotyping assays was queried. Assays for 10 separate AJ ... |
2,339,169 | Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations. | It is recommended that cystic fibrosis (CF) carrier screening be made available to African Americans who are either pregnant or planning a pregnancy. We analyzed the carrier and mutant allele frequencies for African Americans undergoing CF carrier screening in our laboratories.</AbstractText>Between December 2001 and S... |
2,339,170 | Cystic fibrosis screening: lessons learned from the first 320,000 patients. | To examine the data from > 335,000 Cystic fibrosis (CF) tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling.</AbstractText>A proprietary database containing 335,204 consecutive CF DNA tests and 445 CF prenatal diagnostic tests was queried. Clinical information ... |
2,339,171 | In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. | To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population.</AbstractText>In this study, 175 families with at least one case of cleft lip and/or palate were studied using the candidate genes TGFA, MSX1, and TGFB3.</AbstractText>Transmission distortion for alleles of MSX1 were demonstrated for th... |
2,339,172 | Preimplantation HLA typing and stem cell transplantation: report of International Meeting, Cyprus, 27-8 March, 2004. | There has been progress in the application of stem cell transplantation for the treatment of an increasing number of severe congenital and acquired bone marrow disorders that are currently restricted by the availability of human leukocyte antigen(HLA)-matched related donors. Preimplantation HLA typing has recently been... |
2,339,173 | A new model of glaucoma filtering surgery in the rat. | The most common reason for long-term failure of glaucoma filtering surgery (GFS) is scarring of the external filtering "bleb" tissues. The identification of the factors that mediate this process, as well as the development and initial testing of new therapies to limit scarring is enhanced by the use of appropriate anim... |
2,339,174 | Sequencing of canine 5-hydroxytriptamine receptor (5-HTR) 1B, 2A, 2C genes and identification of polymorphisms in the 5-HTR1B gene. | Polymorphisms of human genes encoding 5-hydroxytriptamine (serotonin) receptors (5-HTRs) are thought to be associated with psychiatric disorders and behavioral traits. In the present study, we searched for corresponding polymorphisms in the dog and compared allelic frequencies for the canine 5-HTR1B, 5-HTR2A, and 5-HTR... |
2,339,175 | Role of INSL3 and LGR8 in cryptorchidism and testicular functions. | Cryptorchidism is the most frequent congenital anomaly of the urogenital tract in human males. INSL3 and LGR8/GREAT proteins seem to act as ligand and receptor respectively, and to have a role in gubernaculum development involved in testicular descent. Mutations in the INSL3 gene or LGR8/GREAT were found to be associat... |
2,339,176 | Genetic basis of blood group diversity. | In the last 18 years the genes that encode all but one of the 29 blood group systems present on red blood cells (RBCs) have been identified. This body of knowledge has permitted the application of molecular techniques to characterize the common blood group antigens and to elucidate the background for some of the varian... |
2,339,177 | Cost-effectiveness of thiopurine methyltransferase genotype screening in patients about to commence azathioprine therapy for treatment of inflammatory bowel disease. | Azathioprine is a useful agent in the management of inflammatory bowel disease. Its use is limited by its side-effect profile. Marrow toxicity occurs in approximately 3.2% of patients and is known to be associated with diminished thiopurine methyltransferase enzyme activity resulting from genetic polymorphisms.</Abstra... |
2,339,178 | [Predictive value of human genotoxicological biomarkers in the primary prevention of chronic non-infectious diseases]. | The main goal of biomarker research in the frame of primary prevention of chronic diseases is the prevention of appearance of clinical symptoms by an early recognition of the process leading to the symptoms. By the use of well-established biomarkers one can detect such tendencies finally leading to the manifestation of... |
2,339,179 | Estimation of relative allele frequencies of single-nucleotide polymorphisms in different populations by microarray hybridization of pooled DNA. | Single-nucleotide polymorphisms (SNPs) are considered useful polymorphic markers for genetic studies of polygenic traits. A new practical approach to high-throughput genotyping of SNPs in a large number of individuals is needed in association study and other studies on relationships between genes and diseases. We have ... |
2,339,180 | Clinical features of A3243G mitochondrial tRNA mutation. | Mitochondrial cytopathy is a heterogeneous group of disorders with a wide range of clinical features. To evaluate the incidence and clinical heterogeneity of A3243G mitochondrial tRNA mutation in the Korean population, we evaluated patients who were clinically suggestive of having mitochondrial encephalomyopathy. Eight... |
2,339,181 | Genotoxicity testing of a fenugreek extract. | Fenugreek seeds have been used in traditional medicines as a remedy for diabetes. Rich in protein, fenugreek seeds contain the unique major free amino acid 4-hydroxyisoleucine (4-OH-Ile), which has been characterized as one of the active ingredients for blood glucose control. Current use of fenugreek in foodstuff has b... |
2,339,182 | Minor histocompatibility antigen HA-1 and HPA-5 polymorphisms in HLA-identical related bone marrow transplantation. | The minor histocompatibility antigens (mHags), HA-1 and HPA-5, are immunogenic alloantigens shown to be responsible for graft-versus-host disease (GVHD) in HLA-identical bone marrow transplantation. Both antigens have two known alleles each, resulting in a single amino acid polymorphism. The HA-1H allele encodes histid... |
2,339,183 | The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity. | Many families with multiple cases of ovarian cancer, breast cancer, or both segregate inherited mutations in one allele of the tumor suppressor gene BRCA1. Genetic testing is used to assess cancer risk; however, testing can detect missense DNA alterations, called unclassified variants, of unknown functional and biologi... |
2,339,184 | Molecular cytogenetic parameters in fibroblasts of ataxia telangiectasia carrier. | Ataxia telangiectasia (AT) is a pleiotropic and rare (1:40,000 to 1:100,000) recessive disease. Laboratory investigations have failed to detect any consistent anomaly in cells from AT heterozygotes. To estimate random aneuploidy, we applied a fluorescence in situ hybridization technique with alpha-satellite probes for ... |
2,339,185 | Handling multiple testing while interpreting microarrays with the Gene Ontology Database. | The development of software tools that analyze microarray data in the context of genetic knowledgebases is being pursued by multiple research groups using different methods. A common problem for many of these tools is how to correct for multiple statistical testing since simple corrections are overly conservative and m... |
2,339,186 | [Importance of family examination in juvenile X-linked retinoschisis]. | Congenital (juvenile) retinoschisis belongs to the group of hereditary vitreoretinopathies. This disorder is inherited in an X-linked recessive pattern and its onset usually occurs in 5- to 10-year-old boys. Presenting clinical signs include decreased visual acuity due to maculopathy.</AbstractText>The authors present ... |
2,339,187 | Utility of Interphase FISH Panels for Routine Clinical Cytogenetic Evaluation of Chronic Lymphocytic Leukemia and Multiple Myeloma. | Specific genetic abnormalities are of prognostic significance for patients with chronic lymphocytic leukemia (CLL) and multiple myeloma (MM); however, routine cytogenetic analysis usually provides normal results. We utilized two probe panels for interphase fluorescence in situ hybridization (FISH) studies to enhance th... |
2,339,188 | Hypermutable Haemophilus influenzae with mutations in mutS are found in cystic fibrosis sputum. | Hypermutable bacterial pathogens exist at surprisingly high prevalence and benefit bacterial populations by promoting adaptation to selective environments, including resistance to antibiotics. Five hundred Haemophilus influenzae isolates were screened for an increased frequency of mutation to resistance to rifampicin, ... |
2,339,189 | Diagnosis of lysosomal storage disorders: current techniques and future directions. | Lysosomal storage disorders represent a group of over 45 distinct genetic diseases. The broad spectrum of clinical presentation of this group of disorders has led to the development of diagnostic protocols to facilitate their rapid and accurate diagnosis. However, with the development of new therapies, testing for many... |
2,339,190 | Exploring the genetic basis of disease using RNA interference. | Cancer and autoimmunity are polygenic diseases. In order to better understand the mechanisms of disease development and progression it is essential to uncover which genes are involved. Much has been learned from population studies in human patients by searching for polymorphic genetic loci associated with disease. In a... |
2,339,191 | Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria. | Hyperphenylalaninemia in preterm neonates with heterozygosity for phenylketonuria has previously not been described. We report on a very low birth weight infant, born at a gestational age of 27+5 weeks with a birth weight of 1080 g. Due to a positive family history prenatal diagnosis for phenylketonuria was performed, ... |
2,339,192 | [Families at risk of colon cancer I. Familial adenomatous polyposis]. | Familial adenomatous polyposis (FAP) is a well-defined autosomal dominant inherited disease characterised by a diffuse polyposis of the colon and rectum leading to inevitable colorectal cancer by 50 years. The purpose of this review is to summarize the current knowledge regarding this entity with the focus on recent kn... |
2,339,193 | Ataxia-telangiectasia mutated gene controls insulin-like growth factor I receptor gene expression in a deoxyribonucleic acid damage response pathway via mechanisms involving zinc-finger transcription factors Sp1 and WT1. | The IGF-I receptor (IGF-IR) has a central role in cell cycle progression as well as in the establishment of the transformed phenotype. Increased expression of the IGF-IR gene, in addition, is correlated with acquisition of radioresistance for cell killing. The ataxia-telangiectasia mutated (ATM) gene product has a pivo... |
2,339,194 | Neuroscience research on the addictions: a prospectus for future ethical and policy analysis. | The increasing evidence that many addictive phenomena have a genetic and neurobiological basis promises improvements in societal responses to addiction that raise important ethical and social policy issues. One of the major potential benefits of such research is improved treatment of drug addiction, but in order to do ... |
2,339,195 | Certificates of confidentiality in research: rationale and usage. | Certificates of confidentiality (COCs) are a tool to protect researchers from being compelled to release identifying information about their subjects. Whereas institutional review board (IRB) review and informed consent procedures are mandatory tools to protect human subjects, COCs are voluntary. There are limited data... |
2,339,196 | Human subject protections in genetic research. | The Certificate of Confidentiality (COC) is a voluntary tool to protect researchers from being compelled to release identifying information about their subjects. Institutional review board (IRB) review and informed consent (IC) procedures are mandatory tools to protect human subjects. Although many studies reveal poor ... |
2,339,197 | Patterns of chromosomal translocations identified by a birth defects registry, Hawaii, 1986-2000. | Using a birth defects registry, this investigation examined the distribution of translocations by type of translocation, chromosomes involved in the translocation, pregnancy outcome, method of diagnosis, inheritance, and diagnosis of major structural birth defects. A total of 121 cases were identified through a statewi... |
2,339,198 | Comprehensive analysis of genetic polymorphisms in the interleukin-10 promoter: implications for immune regulation in specific ethnic populations. | The association of interleukin-10 (IL-10) promoter single-nucleotide polymorphisms (SNPs) as risk factors for certain inflammatory diseases, viral infections, cancers, and transplant rejection have been the subject of recent studies. The SNPs -1082 G --> A, -819 C --> T, and -592 C --> A, which have been assoc... |
2,339,199 | PCR-RFLP genotyping assay for a lactase persistence polymorphism upstream of the lactase-phlorizin hydrolase gene. | The majority of the world's human population experiences a decline of lactase gene expression during maturation, so-called lactase nonpersistence. Thus, adults with lactase nonpersistence are susceptible to developing symptoms of lactose intolerance. By contrast, lactase persistence is an autosomal dominant heritable c... |
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