Search Results - "Van Ommen, G J"

Fluorescent labelling of cRNA for microarray applications by ’t Hoen, Peter A. C., de Kort, Floor, van Ommen, G. J. B., den Dunnen, Johan T.

“…Microarrays of oligonucleotide expression libraries can be hybridised with either cDNA, generated from mRNA during reverse transcription, or cRNA, generated in…”
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WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma by Stec, Ingrid, Wright, Tracy J., van Ommen, Gert-Jan B., de Boer, Piet A. J., van Haeringen, Arie, Moorman, Antoon F. M., Altherr, Michael R., den Dunnen, Johan T.

“…Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4 (4p16.3). The smallest…”
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Deleterious alleles in the human genome are on average younger than neutral alleles of the same frequency by Kiezun, Adam, Pulit, Sara L, Francioli, Laurent C, van Dijk, Freerk, Swertz, Morris, Boomsma, Dorret I, van Duijn, Cornelia M, Slagboom, P Eline, van Ommen, G J B, Wijmenga, Cisca, de Bakker, Paul I W, Sunyaev, Shamil R

“…Large-scale population sequencing studies provide a complete picture of human genetic variation within the studied populations. A key challenge is to identify,…”
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Muscle regeneration in dystrophin-deficient mdx mice studied by gene expression profiling by Turk, R, Sterrenburg, E, de Meijer, E J, van Ommen, G-J B, den Dunnen, J T, 't Hoen, P A C

“…Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is lethal. In contrast, dystrophin-deficient mdx mice recover due to effective…”
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Biobanking for Europe by Yuille, Martin, van Ommen, Gert-Jan, Bréchot, Christian, Cambon-Thomsen, Anne, Dagher, Georges, Landegren, Ulf, Litton, Jan-Eric, Pasterk, Markus, Peltonen, Leena, Taussig, Mike, Wichmann, H-Erich, Zatloukal, Kurt

“…Biobanks are well-organized resources comprising biological samples and associated information that are accessible to scientific investigation. Across Europe,…”
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Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype by Voer, G., Bent, P., Rodrigues, A. J. G., Ommen, G.‐J. B., Peters, D. J. M., Taschner, P. E. M.

“…Summary The CLN3 gene is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten–Spielmeyer–Vogt disease, a severe hereditary neurodegenerative…”
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Direct visualization of dispersed 11q13 chromosomal translocations in mantle cell lymphoma by multicolor DNA fiber fluorescence in situ hybridization by VAANDRAGER, J.-W, SCHUURING, E.K, ZWIKSTRA, E, DE BOER, C. J, KLEIVERDA, K. K, VAN KRIEKEN, J. H. J. M, KLUIN-NELEMANS, H. C, VAN OMMEN, G.-J. B, RAAP, A. K, KLUIN, P. M

“…Several hematologic malignancies are associated with specific chromosomal translocations. Because of the dispersed distribution, chromosomal breakpoints may be…”
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Gas phase hydroformylation of ethylene using organometalic Rh-complexes as heterogeneous catalysts by ZAPIRTAN, V. I, MOJET, B. L, VAN OMMEN, J. G, SPITZER, J, LEFFERTS, L

“…The heterogeneously catalysed gas phase hydroformylation of ethylene to propionaldehyde was studied over solid RhCl(PPh3)3 and RhCl(CO)(PPh3)2. At 3 bar and…”
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Limb-girdle muscular dystrophy in the Netherlands : Gene defect identified in half the families by VAN DER KOOI, A. J, FRANKHUIZEN, W. S, BAKKER, E, GINJAAR, H. B, BARTH, P. G, HOWELER, C. J, PADBERG, G. W, SPAANS, F, WINTZEN, A. R, WOKKE, J. H. J, VAN OMMEN, G.-J. B, DE VISSER, M

“…Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and…”
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Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families by PEELEN, T, VAN VLIET, M, DEVILEE, P, BOSCH, A, BIGNELL, G, VASEN, H. F. A, KLIJN, J. G. M, MEIJERS-HEIJBOER, H, STRATTON, M, VAN OMMEN, G.-J, CORNELISSE, C. J

“…We have analysed 81 families with a history of breast and/or ovarian cancer for the presence of germline mutations in BRCA2 with a number of different mutation…”
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Development of monolith with a carbon-nanofiber-washcoat as a structured catalyst support in liquid phase by Jarrah, N., van Ommen, J.G., Lefferts, L.

“…Washcoats with improved mass transfer properties are necessary to circumvent concentration gradients in case of fast reactions in liquid phase, e.g. nitrate…”
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Preparation and characterization of lanthanum zirconate by NAIR, J, NAIR, P, DOESBURG, E. B. M, VAN OMMEN, J. G, ROSS, J. R. H, BURGGRAAF, A. J, MIZUKAMI, F

“…Lanthanum zirconate has been prepared by citrate synthesis, by coprecipitation and by solid state decomposition of metal nitrate–urea mixtures. The relative…”
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Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16) by GILES, R. H, DAUWERSE, J. G, VAN OMMEN, G.-J. B, HAGEMEIJER, A, VAN DER REIJDEN, B. A, BREUNING, M. H, HIGGINS, C, PETRIJ, F, WESSELS, J. W, BEVERSTOCK, G. C, DÖHNER, H, JOTTERAND-BELLOMO, M, FALKENBURG, J. H. F, SLATER, R. M

“…The CREB-binding protein (CBP) is a large nuclear protein that regulates many signal transduction pathways and is involved in chromatin-mediated transcription…”
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Comparative analysis of antisense oligonucleotide analogs for targeted DMD exon 46 skipping in muscle cells by AARTSMA-RUS, A, KAMAN, W. E, BREMMER-BOUT, M, JANSON, A. A. M, DEN DUNNEN, J. T, VAN OMMEN, G-Jb, VAN DEUTEKOM, J. C. T

“…As small molecule drugs for Duchenne muscular dystrophy (DMD), antisense oligonucleotides (AONs) have been shown to restore the disrupted reading frame of DMD…”
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High-resolution DNA Fiber-FISH for genomic DNA mapping and colour bar-coding of large genes by Florijn, R J, Bonden, L A, Vrolijk, H, Wiegant, J, Vaandrager, J W, Baas, F, den Dunnen, J T, Tanke, H J, van Ommen, G J, Raap, A K

“…We have applied two-colour fluorescence in situ hybridization (FISH) to DNA fibers and combined it with digital imaging microscopy for the mapping of large…”
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Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP by Petrif, Fred, Giles, Rachel H, Dauwerse, Hans G, Saris, Jasper J, Hennekam, Raoul C. M, Masuno, Mitsuo, Tommerup, Niels, van Ommen, Gert-Jan B, Goodman, Richard H, Peters, Dorien J. M, Breuning, Martijn H

“…The Rubinstein-Taybi syndrome (RTS) is a well-defined syndrome with facial abnormalities, broad thumbs, broad big toes and mental retardation as the main…”
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The Human Genome Project and the future of diagnostics, treatment and prevention by Ommen, G.‐J. B.

“…The Human Genome Project, the mapping of our 30 00–50 000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the…”
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Preparation and Characterization of Polymer-Stabilized Rhodium Sols. I. Factors Affecting Particle Size by Busser, G. W, van Ommen, J. G, Lercher, J. A

“…Preparation and characterization of polymer-stabilized rhodium sols with average metal particle diameters between 1 nm and 3.5 nm are described. The…”
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Huntingtin with an expanded polyglutamine repeat affects the Jab1-p27(Kip1) pathway by Cong, S.Y, Pepers, B.A, Zhou, T.T, Kerkdijk, H, Roos, R.A, van Ommen, G.J, Dorsman, J.C

“…Abstract Expansion of polyglutamine repeats is the cause of at least nine inherited human neurodegenerative disorders, including Huntington's disease (HD). It…”
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Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals by LIMPENS, J, STAD, R, VOS, C, DE VLAAM, C, DE JONG, D, VAN OMMEN, G.-J. B, SCHUURING, E, KLUIN, P. M

“…Successive oncogenic steps are necessary to generate cancer. In many B-cell lymphomas, chromosomal translocations are considered to be an early oncogenic hit…”
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