Search Results - "OETH, Paul"
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Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting
Published in American journal of obstetrics and gynecology (01-03-2011)“…Objective We sought to evaluate a multiplexed massively parallel shotgun sequencing assay for noninvasive trisomy 21 detection using circulating cell-free…”
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Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
Published in Clinical chemistry (Baltimore, Md.) (01-04-2015)“…The development of sequencing-based noninvasive prenatal testing (NIPT) has been largely focused on whole-chromosome aneuploidies (chromosomes 13, 18, 21, X,…”
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Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts
Published in Prenatal diagnosis (01-08-2015)“…Objective This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the…”
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Non-invasive prenatal chromosomal aneuploidy testing--clinical experience: 100,000 clinical samples
Published in PloS one (07-10-2014)“…As the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been…”
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Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Published in Prenatal diagnosis (01-06-2013)“…ABSTRACT Objective Whole‐genome sequencing of circulating cell free (ccf) DNA from maternal plasma has enabled noninvasive prenatal testing for common…”
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High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
Published in PloS one (06-03-2013)“…Circulating cell-free (ccf) fetal DNA comprises 3-20% of all the cell-free DNA present in maternal plasma. Numerous research and clinical studies have…”
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Role of ICAM1 in invasion of human breast cancer cells
Published in Carcinogenesis (New York) (01-05-2005)“…We identified previously a region on chromosome 19p13.2 spanning the genes encoding the intercellular adhesion molecules (ICAM), ICAM1, ICAM4 and ICAM5 as a…”
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Multiplexed analysis of circulating cell-free fetal nucleic acids for noninvasive prenatal diagnostic RHD testing
Published in American journal of obstetrics and gynecology (01-03-2011)“…Objective The objective of the study was the evaluation of a novel multiplex assay to detect fetal Rh blood group D-antigen gene ( RHD) loci in maternal plasma…”
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Inclusion of Genotype with Fundus Phenotype Improves Accuracy of Predicting Choroidal Neovascularization and Geographic Atrophy
Published in Ophthalmology (Rochester, Minn.) (01-09-2013)“…Purpose The accuracy of predicting conversion from early-stage age-related macular degeneration (AMD) to the advanced stages of choroidal neovascularization…”
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MALDI-TOF mass spectrometry : A versatile tool for high-performance DNA analysis
Published in Molecular biotechnology (01-02-2004)“…Matrix-assisted laser desorption/ionization (MALDI) time-of-flight (TOF) mass spectrometry (MS) has developed during the past decade into a versatile tool for…”
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Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration
Published in Human genomics (01-07-2011)“…Predictive tests for estimating the risk of developing late-stage neovascular age-related macular degeneration (AMD) are subject to unique challenges. AMD…”
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A single nucleotide polymorphism based approach for the identification and characterization of gene expression modulation using MassARRAY
Published in Mutation Research-Fundamental and Molecular Mechanisms of Mutagenesis (03-06-2005)“…Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation. Their abundance and the ease with which they can be assayed have lead to…”
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Development and evaluation of a PCR and mass spectroscopy (PCR–MS)-based method for quantitative, type-specific detection of human papillomavirus
Published in Journal of virological methods (01-09-2009)“…Knowledge of the central role of high-risk human papillomavirus (HPV) in cervical carcinogenesis, coupled with an emerging need to monitor the efficacy of…”
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Transcriptional Regulation of the Tissue Factor Gene in Human Epithelial Cells Is Mediated by Sp1 and EGR-1 ()
Published in The Journal of biological chemistry (02-02-1996)“…Tissue factor (TF) gene expression is rapidly induced in epithelial cells by phorbol 12-myristate 13-acetate and serum. We have shown that this induction is…”
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Quantitative mutant analysis of viral quasispecies by chip-based matrix-assisted laser desorption/ ionization time-of-flight mass spectrometry
Published in Proceedings of the National Academy of Sciences - PNAS (09-10-2001)“…RNA viruses exist as quasispecies, heterogeneous and dynamic mixtures of mutants having one or more consensus sequences. An adequate description of the genomic…”
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Transcript profiling of candidate genes in testis of pigs exhibiting large differences in androstenone levels
Published in BMC genetics (25-01-2010)“…Boar taint is an unpleasant odor and flavor of the meat and occurs in a high proportion of uncastrated male pigs. Androstenone, a steroid produced in testis…”
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Factors affecting levels of circulating cell-free fetal DNA in maternal plasma and their implications for noninvasive prenatal testing
Published in Prenatal diagnosis (01-08-2015)“…What's already known about this topic? Sufficient fetal‐to‐total DNA fraction (‘fetal fraction’) of a maternal plasma sample is required for accurate…”
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The Peroxisome Poliferator–Activated Receptor-γ2 Pro12Ala Variant
Published in Diabetes (New York, N.Y.) (01-04-2001)“…The Peroxisome Poliferator–Activated Receptor-γ2 Pro12Ala Variant Association With Type 2 Diabetes and Trait Differences Julie A. Douglas 1 , Michael R. Erdos…”
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87: Noninvasive prenatal testing: 100,000 patients–clinical impact
Published in American journal of obstetrics and gynecology (2014)Get full text
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Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women
Published in Prenatal diagnosis (01-08-2011)“…Objective To examine the performance of the SensiGene Fetal RHD Genotyping Laboratory Developed Test (RHD Genotyping LDT) using circulating cell‐free fetal DNA…”
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