Search Results - "van Driel, Marc A"
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A text-mining analysis of the human phenome
Published in European journal of human genetics : EJHG (01-05-2006)“…A number of large-scale efforts are underway to define the relationships between genes and proteins in various species. But, few attempts have been made to…”
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Characterization of genome-wide p53-binding sites upon stress response
Published in Nucleic acids research (01-06-2008)“…The tumor suppressor p53 is a sequence-specific transcription factor, which regulates the expression of target genes involved in different stress responses. To…”
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Genome-Wide Pattern of TCF7L2/TCF4 Chromatin Occupancy in Colorectal Cancer Cells
Published in Molecular and Cellular Biology (01-04-2008)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Dynamic histone H3 epigenome marking during the intraerythrocytic cycle of Plasmodium falciparum
Published in Proceedings of the National Academy of Sciences - PNAS (16-06-2009)“…Epigenome profiling has led to the paradigm that promoters of active genes are decorated with H3K4me3 and H3K9ac marks. To explore the epigenome of Plasmodium…”
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MetiTree: a web application to organize and process high-resolution multi-stage mass spectrometry metabolomics data
Published in Bioinformatics (Oxford, England) (15-10-2012)“…Identification of metabolites using high-resolution multi-stage mass spectrometry (MS(n)) data is a significant challenge demanding access to all sorts of…”
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ODoSE: a webserver for genome-wide calculation of adaptive divergence in prokaryotes
Published in PloS one (06-05-2013)“…Quantifying patterns of adaptive divergence between taxa is a major goal in the comparative and evolutionary study of prokaryote genomes. When applied…”
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ChIP-Seq of ERα and RNA polymerase II defines genes differentially responding to ligands
Published in The EMBO journal (20-05-2009)“…We used ChIP‐Seq to map ERα‐binding sites and to profile changes in RNA polymerase II (RNAPII) occupancy in MCF‐7 cells in response to estradiol (E2),…”
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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon
Published in Human genetics (01-08-2003)“…Choroideremia (CHM) is a progressive chorioretinal degeneration caused by mutations in the widely expressed CHM gene on chromosome Xq21. The product of this…”
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Bioinformatics methods for identifying candidate disease genes
Published in Human genomics (01-06-2006)“…With the explosion in genomic and functional genomics information, methods for disease gene identification are rapidly evolving. Databases are now essential to…”
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From syndrome families to functional genomics
Published in Nature reviews. Genetics (01-07-2004)“…There are more than 2,000 monogenic syndromes in man. Each syndrome has a specific combination of phenotypic features, and each differs from other syndromes by…”
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Modulating crossover positioning by introducing large structural changes in chromosomes
Published in BMC genomics (15-02-2015)“…Crossing over assures the correct segregation of the homologous chromosomes to both poles of the dividing meiocyte. This exchange of DNA creates new allelic…”
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Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes
Published in Nucleic acids research (01-01-2006)“…Genome-wide experimental methods to identify disease genes, such as linkage analysis and association studies, generate increasingly large candidate gene sets…”
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iAnn: an event sharing platform for the life sciences
Published in Bioinformatics (01-08-2013)“…We present iAnn, an open source community-driven platform for dissemination of life science events, such as courses, conferences and workshops. iAnn allows…”
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A new web-based data mining tool for the identification of candidate genes for human genetic disorders
Published in European journal of human genetics : EJHG (01-01-2003)“…To identify the gene underlying a human genetic disorder can be difficult and time-consuming. Typically, positional data delimit a chromosomal region that…”
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Autosomal Dominant Rhegmatogenous Retinal Detachment Associated with an Arg453Ter Mutation in the COL2A1 Gene
Published in Investigative ophthalmology & visual science (01-09-2003)“…To investigate the clinical features and molecular causes of autosomal dominant rhegmatogenous retinal detachment (RRD) in two large families. Clinical…”
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ABCR unites what ophthalmologists divide(s)
Published in Ophthalmic genetics (1998)“…Over the last years, the molecular causes of monogenic chorioretinal diseases have been elucidated at an increasing pace. In contrast, only recently have…”
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Isolation and Mapping of Novel Candidate Genes for Retinal Disorders Using Suppression Subtractive Hybridization
Published in Genomics (San Diego, Calif.) (15-06-1999)“…We have constructed human cDNA libraries enriched for retina- and retinal pigment epithelium (RPE)/choroid-specific cDNAs through suppression subtractive…”
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Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy
Published in Molecular vision (19-03-2002)“…Computer-assisted sampling of EST data contained within the UniGene human sequences collection is being used to establish a catalog of novel genes that are…”
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MetIDB: A Publicly Accessible Database of Predicted and Experimental 1 H NMR Spectra of Flavonoids
Published in Analytical chemistry (Washington) (17-09-2013)Get full text
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Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
Published in Nature genetics (01-10-1999)“…Retinitis pigmentosa (RP) comprises a clinically and genetically heterogeneous group of diseases that afflicts approximately 1.5 million people worldwide…”
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