• The aim of the present study was to apply a clinical score previously designated by de Vries to 329 patients with intellectual disability/developmental disorder (intellectual disability/developmental delay) referred to our tertiary center and to see whether the clinical factors are associated with a positive outcome of aCGH analyses. (nih.gov)
  • For generating a comparable rhesus macaque CNV dataset, we designed a rhesus macaque-specific array comparative genomic hybridization (aCGH) platform containing 950,843 unique 60-mer oligonucleotide probes. (biomedcentral.com)
  • By use of aCGH, DNA derived from tumor tissue can be compared with reference DNA, e.g., normal whole blood DNA, and genomic imbalances can effectively be investigated. (biomedcentral.com)
  • We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases. (elsevierpure.com)
  • The women were randomly assigned to undergo embryo selection for transfer on the basis of day-5 morphology or PGD-A using array comparative genomic hybridization (aCGH) for 24-chromosome testing before the start of treatment. (medscape.com)
  • Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
  • Oncogenic point mutations in KIT or PDGFRA are recognized as the primary events responsible for the pathogenesis of most gastrointestinal stromal tumors (GIST), but additional genomic alterations are frequent and presumably required for tumor progression. (biomedcentral.com)
  • For a subset of 29 tumors, comparative genomic hybridization was additionally used to screen for chromosome copy number aberrations. (biomedcentral.com)
  • The applica tion of new genetic tools also led to the discovery of an important familial neuroblastoma cancer gene, ALK , which is mutated in approximately 8% of sporadic tumors, and genome-wide association studies have unveiled loci with risk alleles for neuroblastoma development. (biomedcentral.com)
  • Pauniaho SL, Salonen J, Helminen M, Vettenranta K, Heikinheimo M, Heikinheimo O. The incidences of malignant gonadal and extragonadal germ cell tumors in males and females: a population-based study covering over 40 years in Finland. (cancercentrum.se)
  • Based on the heterogeneity within a specific tumor type, a combination of genomic alterations defines the cancer subtype, biologic behavior, and in some cases, response to therapeutics. (hindawi.com)
  • Three tumor-specific factors have consistently emerged from these studies: Breslow thickness, ulceration, and mitotic rate. (medpagetoday.com)
  • 2003). More recently, array comparative genomic hybridization (CGH) analyses indicate that genomic loss at the Ptch1 locus was the fourth most commonly detected change among the tumor suppressor genes identified in the study, occurring in 19 percent of human breast cancers and 33 percent of breast cancer cell lines (Naylor et al. (bcm.edu)
  • In addition to KIT/PDGFRA mutational status, our findings indicate that secondary chromosomal changes contribute significantly to tumor development and progression of GIST and that genomic complexity carries independent prognostic value that complements clinico-pathological and genotype information. (biomedcentral.com)
  • For some of the genomic regions that are deleted in some neuroblastomas, on 1p, 3p and 11q, candidate tumor suppressor genes have been identified. (biomedcentral.com)
  • While options for information tech-nology (IT) pipelines for NGTs are improving rapidly, recent studies still show significant inconsistencies and lack of reproduc-ibility when it comes to interpreting variants in array comparative genomic hybridization, panel testing, tumor expression profiling, and tumor genome sequencing, Carter elaborates. (aacc.org)
  • Bioinformatic analysis must distinguish tumor-spe-cific variants from genomic variants. (aacc.org)
  • 8 The results demonstrated that miRNA expression signatures were clearly distinct among the tumor types studied, suggesting their possible role in sarcomagenesis, and their potential as diagnostic markers or even therapeutic targets. (sarcomahelp.org)
  • Cell lines from various tumor types have been developed for use as a tumor model for controlled laboratory studies. (biomedcentral.com)
  • G band cytogenetic analysis often leads to the discovery of unbalanced karyotypes that require further characterisation by molecular cytogenetic studies. (bmj.com)
  • Comparative genomic hybridisation (CGH) is one of several molecular approaches that can be applied to ascertain the origin of extra chromosomal material. (bmj.com)
  • Microarray-based comparative genomic hybridization is a method of molecular analysis that identifies chromosomal anomalies (or copy number variants) that correlate with clinical phenotypes. (nih.gov)
  • 1 The idea that the field of molecular biology needed to move from studying isolated biological molecules towards a broad analysis of large sets of biological molecules was underscored with the completion of the human genome project (HGP) in 2001. (bmj.com)
  • Predictions of the subject-specific theory of illness are tested in therapeutic maneuvers with new or existing drugs, in in vitro studies of subject-specific brain cells, and in molecular studies of relatives. (columbia.edu)
  • DNA purified with from such large scale blood samples with Gentra products is well suited for applications such as QIAGEN s PCR-based genotyping, molecular testing products or comparative genomic hybridization (CGH). (webwire.com)
  • The Gentra products are very complimentary to QIAGEN s product and technology portfolio providing additional solutions to enable large-scale research in biomedical, genomic and molecular diagnostic laboratories. (webwire.com)
  • Our studies, supported by the Liddy Shriver Sarcoma Initiative, aimed to identify unique miRNA expression profiles of WDLPS and DDLPS with the hope that such signatures could provide insights into our understanding of the molecular determinants driving these two entities. (sarcomahelp.org)
  • Standard chromosome analysis by G-banding has a limited resolution, but molecular cytogenetic techniques, such as multi-subtelomeric FISH, microdeletion FISH, multicolour FISH and comparative genomic hybridisation (CGH), have played an important role for the diagnosis of MR during the past decade. (bmj.com)
  • By characterization of the genomic, transcriptional, and DNA methylation landscape in lung cancer subgroups defined by histology and other clinicopathological factors in both own and public cohorts we search for new molecular subgroups of potential clinical relevance, additional targets for synergistic treatment, and a deepened understanding of the molecular pathogenesis. (lu.se)
  • These studies reveal that recurrent somatic mutations occur in only a handful of genes, with an overall mutational burden of roughly 1-2 per Mb. (springer.com)
  • In mutational analysis, an early study found Ptch1 mutations in 2 of 7 human breast cancers (Xie et al. (bcm.edu)
  • In the present study, somatic mutations in KIT and PDGFRA were evaluated by direct sequencing analysis in a consecutive series of 80 GIST patients. (biomedcentral.com)
  • In addition to clinico-pathological high-risk groups, patients with KIT mutations, genomic complexity, genomic gains and deletions at either 1p or 22q showed a significantly shorter disease-free survival. (biomedcentral.com)
  • Furthermore, the relationship between the pattern of KIT and PDGFRA oncogenic mutations and that of cytogenetic changes has not been systematically studied, precluding a full understanding of the genetic pathways involved in GIST development. (biomedcentral.com)
  • Our analyses of IDH1 mutations in for R132C mutations in astrocytes or glioblastomas from a population- precursor cel s that already carry a based study (407 cases) showed that germline TP53 mutation. (who.int)
  • Of note, recent genomic studies demonstrate activating, somatic BRAF mutations in the majority of human specimens. (medscape.com)
  • Thus, we believe that this in-depth analytical study of the countless mutations attributed to BrS may constitute a real cornerstone that will help to better understand this intriguing syndrome. (bvsalud.org)
  • CGH has been widely applied to detect gains and losses of DNA sequences on specific chromosomes in the study of solid tumours, 1 but has not been extensively used to study unbalanced constitutional karyotypes. (bmj.com)
  • Screening for chromosome imbalances was carried out using comparative genomic hybridisation (CGH) in 14 frozen samples of tumour from a series of 13 breast cancer patients with multiploid (n = 11) and hypertetraploid (n = 2) tumours. (bmj.com)
  • Ways to abrogate heterogeneity will be required to optimise the genomic classification of tumours. (springer.com)
  • Not only has knowledge of the genomic landscape helped inform the development of new drugs, this understanding also promises to improve risk stratification of tumours and to determine their sensitivity to systemic therapies. (springer.com)
  • We have used comparative genomic hybridisation to analyse 19 constitutional chromosome abnormalities detected by G band analysis, including seven deletions, five supernumerary marker chromosomes, two interstitial duplications, and five chromosomes presenting with abnormal terminal banding patterns. (bmj.com)
  • We discuss internal quality control measures, such as the mismatching of test and reference DNA in order to assess the quality of the competitive hybridisation effect on the X chromosome. (bmj.com)
  • Constitutional chromosome studies involving conventional GTG band cytogenetic analysis, however, often show unbalanced karyotypes which cannot be fully defined because the extra material is too small to have a recognisable banding pattern. (bmj.com)
  • Others have applied CGH to the study of constitutional chromosome abnormalities detected postnatally. (bmj.com)
  • Although the structural chromosome abnormalities in these cases were too small to identify the origin of the extra genomic material based on banding pattern, none of the abnormalities described by these authors can be considered to be subtle or cryptic. (bmj.com)
  • In this study a method of accurately placing thousands of markers onto chromosome intervals was evaluated. (usda.gov)
  • Our method of genotyping deletions on chromosome 7B relied on a model-based clustering algorithm (Mclust) to accurately predict the presence or absence of a given genomic sequence in a deletion line. (usda.gov)
  • Microarray-based comparative genomic hybridization identified structural chromosomal alterations responsible for the intellectual disability/developmental delay phenotype in 16% of our sample. (nih.gov)
  • Additionally, comparative genomic hybridization was employed to compare genomic alterations between the CAISMOV24 cell line and its primary malignant cells. (biomedcentral.com)
  • Although the cell line had developed alongside the accumulation of genomic alterations (28 CNV in primary cells and 37 CNV in CAISMOV24), most of them were related to CNVs already present in primary malignant cells. (biomedcentral.com)
  • Our results corroborate with the idea that genomic alterations, depicted by CNVs, can be used for subtyping epithelial ovarian carcinomas. (biomedcentral.com)
  • A number of genetic studies led to the identification of genes and/or copy number variants whose alterations are associated with autism, but no specific factor has been found so far to be responsible for a substantial proportion of cases. (biomedcentral.com)
  • published this month in BMC Medicine , reports on genomic and epigenetic alterations of OXTR , the gene encoding the receptor for oxytocin. (biomedcentral.com)
  • Comparative genomic hybridisation (CGH) is a dual fluorescence in situ hybridisation protocol capable of detecting global gains and losses of genomic regions by competitive DNA hybridisation. (bmj.com)
  • Another goal was to test the association between a positive microarray-based comparative genomic hybridization result and the severity of intellectual disability/developmental delay. (nih.gov)
  • We want to emphasize the need to conduct microarray-based comparative genomic hybridization on all individuals with intellectual disability/developmental delay, regardless of the severity, because the degree of intellectual disability/developmental delay does not predict the diagnostic yield of microarray-based comparative genomic hybridization. (nih.gov)
  • Well, microarray technology is a developing technology used to study the expression of many genes at once. (semimd.com)
  • A typical microarray experiment involves the hybridization of an mRNA molecule to the DNA template from which it originated. (semimd.com)
  • In a recent study using a microarray approach, 27 STS of seven different histological subtypes were profiled for miRNA expression. (sarcomahelp.org)
  • High-resolution microarray-based comparative genomic hybridization (CGH) techniques have successfully been applied to study copy number imbalances in a number of settings such as the analysis of cancer genomes. (biomedcentral.com)
  • Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study. (cdc.gov)
  • Additional experiments introduce fundamental techniques in yeast genomics, including both performance and interpretation of Synthetic Genetic Array analysis, multiplexed whole genome and barcode sequencing, and comparative genomic hybridization to DNA arrays. (cshlpress.com)
  • He also noted concern regarding delays in referring specimens to the laboratory for testing, and emphasized the need for improvement in timeliness of reporting and tracking of the viruses referred for genomic sequencing. (who.int)
  • He thanked the regional and global specialized laboratories for their efforts to provide timely results of the genomic sequencing of wild polioviruses, and for their help in planning and monitoring polio eradication activities in the Region. (who.int)
  • Traditionally, biobanking was a confined market niche and mostly targeting population genetics studies. (webwire.com)
  • These include some of the recent findings from genome-wide association studies (GWASs) mostly with breast cancers. (hindawi.com)
  • Genotype and genomic findings were cross-tabulated and compared with available clinical and follow-up data. (biomedcentral.com)
  • However, the feasibility of such studies is suggested by these findings. (sarcomahelp.org)
  • depth and location, as these were found aligned with genomic findings. (okilab.es)
  • High-resolution cytogenetic studies with FISH are used to test for 15q duplication, which has been found in 3%-5% of individuals with autism. (medscape.com)
  • show that there is genomic and epigenetic evidence of a reduced function of the oxytocin receptor in autism. (biomedcentral.com)
  • The aim of this study was using a fine-tuning interpretation of our DNA ploidy results and to compare these with metaphase high-resolution CGH (HR-CGH) results. (biomedcentral.com)
  • Comparative genomic hybridization: assess the entire genome for the presence of changes in DNA copy number. (semimd.com)
  • In a Brazilian study, neonatal screening for the TP53 R337H mutation, which is prevalent in the region, identified 461 (0.27%) carriers among 171,649 newborns who were screened. (oncolink.org)
  • 2 Consequently, screening for subtelomeric abnormalities has become a diagnostic test that is offered by diagnostic laboratories, and a number of studies reporting new subtelomeric rearrangements have been published. (bmj.com)
  • Committee opinion no. 690: Carrier Screening in the age of genomic medicine. (msdmanuals.com)
  • This was, however, not the case when fluorescent in situ hybridization (FISH) technology and screening of a limited number of chromosomes was done. (medscape.com)
  • Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study. (cdc.gov)
  • We performed a multicenter study of C. sakazakii infections in humans (EUCRONI) to determine the occurrence of C. sakazakii in clinical microbiology laboratories across Europe. (cdc.gov)
  • Some insights into clinical risk factors and their genomic correlates have been made. (springer.com)
  • According to comparative genomic hybridization (CGH) data published in the literature, the simple and complex karyotypes show a correlation between the prognosis and clinical outcome. (biomedcentral.com)
  • This is the first study evaluating spermatozoon genomic stability with respect to vacuole morphology according to novel vacuole criteria (i.e. location and depth) and further investigation is warranted to verify the value of these criteria in larger sample size clinical studies. (okilab.es)
  • Comparative genomics is introduced using different yeast strains to study natural variation, evolution, and quantitative traits. (cshlpress.com)
  • We divide the field of genomics into genotyping (focused on the genome sequence), transcriptomics (focused on genomic expression) and epigenomics (focused on epigenetic regulation of genome expression). (bmj.com)
  • Bryndorf et al 2 applied CGH to the study of unbalanced karyotypes in prenatal cases, including seven cases of unbalanced structural abnormalities and four cases of simple aneuploidies. (bmj.com)
  • Comparative genomic hybridization (CGH) is now often recommended to identify a greater number of subtle cytogenetic abnormalities in pervasive developmental disorder (PDD). (medscape.com)
  • 5 × 10 −8 ) has been used for genome-wide association studies (GWAS). (springer.com)
  • Comparative genomic hybridization (CGH) was used to reveal that each serotype contains a core of about 4000 genes in addition to 400-600 genes that are serotype specific. (usda.gov)
  • Copy number variants (CNVs), defined as losses and gains of segments of genomic DNA, are a major source of genomic variation. (biomedcentral.com)
  • In this study, we identified over 2,000 human CNVs that overlap with orthologous chimpanzee or orthologous macaque CNVs. (biomedcentral.com)
  • Approximately 95% (1,096) of the CNVs reported in this study have not been documented previously (Figure S4a,b in Additional file 2 ), and roughly half of these are losses of genetic material compared to the reference individual (Figure S4c in Additional file 2 ). (biomedcentral.com)
  • Genomic targets from this work were identified based on their differential distribution among common serovars. (usda.gov)
  • Genomic instability was found to be related to these two main features of vacuoles and, surprisingly not to the number and size of vacuoles as in the previously proposed classifications. (okilab.es)
  • However, as mentioned previously, neither SHH, PTCH1 nor GLI1 expression were detected in normal tissue in this same study, whereas these genes have been detected in normal tissue by others. (bcm.edu)
  • For example, a second study examining differential expression of hedgehog network genes in at least 8 patient matched samples total showed SHH, PTCH1 and GLI1 expression (Mukherjee et al. (bcm.edu)
  • The genetic study showed promising results in "silencing" the genes that translate into tau protein, the primary component behind dementia. (medicaldaily.com)
  • Further studies are necessary to identify minimal deleted/amplified region and genes relevant to sAML transformation. (elsevierpure.com)
  • In this review we define the field of occupational and environmental health (OEH) research as the study of interactions between the following domains: environment (the exposome), 4 individual (genetic) susceptibility (the (epi)genome), and biological outcomes (the responsome) 5 ( figure 1 ). (bmj.com)
  • a) PCR-based amplification of randomly selected bin mapped sequences (b) comparison with previously mapped ESTs and (c) comparison with a 7B genetic map developed in the present study. (usda.gov)
  • Researchers at Baylor College say they've found the genetic reason for two common male reproductive tract birth defects in a genome-wide study. (medicaldaily.com)
  • Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. (elsevierpure.com)
  • Is there an association between spermatozoon genomic stability and vacuolar morphology and location? (okilab.es)
  • The genomic stability of spermatozoa is associated with specific characteristics of vacuolar morphology (depth) and location (cellular compartment, i.e. nucleus and equatorial region). (okilab.es)
  • An assessment to align these specific vacuolar morphology features with genomic stability was conducted among spermatozoa from infertile patients and healthy fertile donors aged 24-38 between June 2015 and July 2016. (okilab.es)
  • We established an association between genomic stability and vacuolar morphology as a base for a new classification according to novel vacuolar criteria, specifically depth and location. (okilab.es)
  • However, the association between vacuoles location and morphology and genomic stability was significant. (okilab.es)
  • Our results, which are based on spermatozoon vacuoles morphological classification and genomic parameters, indicate an association between vacuoles morphology and location and genomic stability. (okilab.es)
  • The massive efforts to systematically find and catalog single nucleotide polymorphisms (SNPs) bear witness to the conviction that small genomic changes may provide clues to the origins of such things as heart problems, obesity, and pharmacologic responses. (the-scientist.com)
  • A sub-study was introduced in 2018, allowing pts who developed progressive disease (PD) following Tx with BR or VenR to receive the MURANO VenR regimen. (confex.com)
  • In this study, we performed a multi-step genome-wide case-control analysis to interrogate the presence of disease-relevant rare copy number variants. (nih.gov)
  • Using hierarchical Bayesian models to explore intra-ethnic social variation in health outcomes: Preliminary results of an analysis of income-mortality associations in the New Zealand Census-Mortality Study. (otago.ac.nz)
  • By expression analysis, a recent immunohistochemical staining study suggested that hedgehog signaling is activated in a majority of human invasive breast cancers based on ectopic expression of PTCH1 and GLI1 (Kubo et al. (bcm.edu)
  • Furthermore, genomic complexity was the best predictor of disease progression in multivariate analysis. (biomedcentral.com)
  • 3 Graeme Stewart, corresponding author from Westmead Millennium Institute at West-mead Hospital in Sydney, writes in an E-mail: "Our study doesn't contradict their results, as we only examined the proportion of people with HIV who fail to express any CCL3L1 (null/null). (the-scientist.com)
  • The study showed inconclusive results when researchers examined the impact of stress on women's heart health. (medicaldaily.com)
  • Instead of detecting and studying one gene at a time, microarrays allow thousands of specific DNA or RNA sequences to be tested within a given moment. (semimd.com)
  • In both cases, DNA from two samples are differentially labeled with fluorescent dyes and co-hybridized to immobilized genomic capture probes. (biomedcentral.com)
  • In essence, relative ratios of copy number between two DNA samples are obtained by comparing the two fluorescent signal intensities for each probe under the assumption that intensities reflect the amount of corresponding genomic DNA in the respective sample. (biomedcentral.com)
  • The most common non-clear cell renal cancers have also undergone genomic profiling and are characterised by distinct genomic landscapes. (springer.com)
  • Countries participating in a multicenter study of Cronobacter sakazakii infections in humans, Europe, 2017. (cdc.gov)
  • A French multicenter study. (cdc.gov)
  • However, no association was observed with the other outcomes, and the authors concluded the finding was "most likely due to small sample sizes and demographic differences in the included studies. (medpagetoday.com)
  • CGH = comparative genomic hybridization to determine copy number differences. (columbia.edu)