Search Results - "EHRICH, Mathias"
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Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
Published in American journal of obstetrics and gynecology (01-08-2016)“…Background Current cell-free DNA assessment of fetal chromosomes does not analyze and report on all chromosomes. Hence, a significant proportion of fetal…”
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Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
Published in American journal of obstetrics and gynecology (01-10-2014)“…Objective The objective of this study was to validate the clinical performance of massively parallel genomic sequencing of cell-free deoxyribonucleic acid…”
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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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DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
Published in Genetics in medicine (01-11-2011)“…Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of…”
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Incidental Detection of Maternal Neoplasia in Noninvasive Prenatal Testing
Published in Clinical chemistry (Baltimore, Md.) (01-02-2018)“…Noninvasive prenatal testing (NIPT) uses cell-free DNA (cfDNA) as an analyte to detect copy-number alterations in the fetal genome. Because maternal and fetal…”
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Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing
Published in Clinical biochemistry (01-08-2013)“…Fetal mutations and fetal chromosomal abnormalities can be detected by molecular analysis of circulating cell free fetal DNA (ccffDNA) from maternal plasma…”
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Detection of Microdeletion 22q11.2 in a Fetus by Next-Generation Sequencing of Maternal Plasma
Published in Clinical chemistry (Baltimore, Md.) (01-07-2012)“…Efforts have been undertaken recently to assess the fetal genome through analysis of circulating cell-free (ccf) fetal DNA obtained from maternal plasma…”
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Published in Genetics in medicine (01-03-2012)“…Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy…”
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Oct4-Induced Pluripotency in Adult Neural Stem Cells
Published in Cell (06-02-2009)“…The four transcription factors Oct4, Sox2, Klf4, and c-Myc can induce pluripotency in mouse and human fibroblasts. We previously described direct reprogramming…”
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Quantitative High-Throughput Analysis of DNA Methylation Patterns by Base-Specific Cleavage and Mass Spectrometry
Published in Proceedings of the National Academy of Sciences - PNAS (01-11-2005)“…Methylation is one of the major epigenetic processes pivotal to our understanding of carcinogenesis. It is now widely accepted that there is a relationship…”
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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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DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
Published in Prenatal diagnosis (01-08-2012)“…ABSTRACT Objective Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of…”
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Dnmt3b promotes tumorigenesis in vivo by gene-specific de novo methylation and transcriptional silencing
Published in Genes & development (01-12-2007)“…Increased methylation of CpG islands and silencing of affected target genes is frequently found in human cancer; however, in vivo the question of causality has…”
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Wnt inhibitory factor 1 is epigenetically silenced in human osteosarcoma, and targeted disruption accelerates osteosarcomagenesis in mice
Published in The Journal of clinical investigation (01-04-2009)“…Wnt signaling increases bone mass by stimulating osteoblast lineage commitment and expansion and forms the basis for novel anabolic therapeutic strategies…”
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Quantitative DNA methylation predicts survival in adult acute myeloid leukemia
Published in Blood (21-01-2010)“…Acute myeloid leukemia (AML) is characterized by molecular heterogeneity that is not fully reflected in the current classification system. Recent insights…”
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Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination
Published in Clinical chemistry (Baltimore, Md.) (01-10-2010)“…Detection of circulating cell-free fetal nucleic acids in maternal plasma has been used in noninvasive prenatal diagnostics. Most applications rely on the…”
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Cytosine methylation profiling of cancer cell lines
Published in Proceedings of the National Academy of Sciences - PNAS (25-03-2008)“…DNA-methylation changes in human cancer are complex and vary between the different types of cancer. Capturing this epigenetic variability in an atlas of…”
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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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