Search Results - "Nygren, Anders O. H"

Quantification of Fetal DNA by Use of Methylation-Based DNA Discrimination by NYGREN, Anders O. H, DEAN, Jarrod, JENSEN, Taylor J, KRUSE, Selena, KWONG, William, VAN DEN BOOM, Dirk, EHRICH, Mathias

“…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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Quantitative comparison of DNA methylation assays for biomarker development and clinical applications by Bock, Christoph, Halbritter, Florian, Carmona, Francisco J, Tierling, Sascha, Datlinger, Paul, Assenov, Yassen, Berdasco, María, Bergmann, Anke K, Booher, Keith, Busato, Florence, Campan, Mihaela, Dahl, Christina, Dahmcke, Christina M, Diep, Dinh, Fernández, Agustín F, Gerhauser, Clarissa, Haake, Andrea, Heilmann, Katharina, Holcomb, Thomas, Hussmann, Dianna, Ito, Mitsuteru, Kläver, Ruth, Kreutz, Martin, Kulis, Marta, Lopez, Virginia, Nair, Shalima S, Paul, Dirk S, Plongthongkum, Nongluk, Qu, Wenjia, Queirós, Ana C, Reinicke, Frank, Sauter, Guido, Schlomm, Thorsten, Statham, Aaron, Stirzaker, Clare, Strogantsev, Ruslan, Urdinguio, Rocío G, Walter, Kimberly, Weichenhan, Dieter, Weisenberger, Daniel J, Beck, Stephan, Clark, Susan J, Esteller, Manel, Ferguson-Smith, Anne C, Fraga, Mario F, Guldberg, Per, Hansen, Lise Lotte, Laird, Peter W, Martín-Subero, José I, Nygren, Anders O H, Peist, Ralf, Plass, Christoph, Shames, David S, Siebert, Reiner, Sun, Xueguang, Tost, Jörg, Walter, Jörn, Zhang, Kun

“…A multicenter comparison of DNA methylation assays identifies robust methods for translational research and clinical diagnostics. DNA methylation patterns are…”
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Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting by Ehrich, Mathias, MD, Deciu, Cosmin, MSc, Zwiefelhofer, Tricia, Tynan, John A., DPhil, Cagasan, Lesley, MSc, Tim, Roger, DPhil, Lu, Vivian, McCullough, Ron, DPhil, McCarthy, Erin, Nygren, Anders O.H., DPhil, Dean, Jarrod, Tang, Lin, DPhil, Hutchison, Don, MSc, Lu, Tim, DPhil, Wang, Huiquan, DPhil, Angkachatchai, Vach, DPhil, Oeth, Paul, MSc, Cantor, Charles R., DPhil, Bombard, Allan, MD, van den Boom, Dirk, DPhil

“…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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High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs by Rottenberg, Sven, Jaspers, Janneke E, Kersbergen, Ariena, van der Burg, Eline, Nygren, Anders O.H, Zander, Serge A.L, Derksen, Patrick W.B, de Bruin, Michiel, Zevenhoven, John, Lau, Alan, Boulter, Robert, Cranston, Aaron, O'Connor, Mark J, Martin, Niall M.B, Borst, Piet, Jonkers, Jos

“…Whereas target-specific drugs are available for treating ERBB2-overexpressing and hormone receptor-positive breast cancers, no tailored therapy exists for…”
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Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material by Sørensen, Karina Meden, Andersen, Paal Skytt, Larsen, Lars Allan, Schwartz, Marianne, Schouten, Jan P, Nygren, Anders O. H

“…The multiplex ligation-dependent probe amplification (MLPA) technique is a sensitive technique for relative quantification of up to 50 different nucleic acid…”
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Moderate Increase in Mdr1a/1b Expression Causes In vivo Resistance to Doxorubicin in a Mouse Model for Hereditary Breast Cancer by PAJIC, Marina, IYER, Jayasree K, KERSBERGEN, Ariena, VAN DER BURG, Eline, NYGREN, Anders O. H, JONKERS, Jos, BORST, Piet, ROTTENBERG, Sven

“…We have found previously that acquired doxorubicin resistance in a genetically engineered mouse model for BRCA1-related breast cancer was associated with…”
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Selective induction of chemotherapy resistance of mammary tumors in a conditional mouse model for hereditary breast cancer by Rottenberg, Sven, Nygren, Anders O.H, Pajic, Marina, van Leeuwen, Fijs W.B, van der Heijden, Ingrid, van de Wetering, Koen, Liu, Xiaoling, de Visser, Karin E, Gilhuijs, Kenneth G, van Tellingen, Olaf, Schouten, Jan P, Jonkers, Jos, Borst, Piet

“…We have studied in vivo responses of "spontaneous" Brca1- and p53-deficient mammary tumors arising in conditional mouse mutants to treatment with doxorubicin,…”
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Poly(ADP-Ribose) Polymerase-1 Inhibitor Treatment Regresses Autochthonous Brca2/p53-Mutant Mammary Tumors In vivo and Delays Tumor Relapse in Combination with Carboplatin by HAY, Trevor, MATTHEW, James R, CLARKE, Alan R, PIETZKA, Lucie, LAU, Alan, CRANSTON, Aaron, NYGREN, Anders O. H, DOUGLAS-JONES, Anthony, SMITH, Graeme C. M, MARTIN, Niall M. B, O'CONNOR, Mark

“…Germ-line heterozygosity of the BRCA2 gene in women predisposes to breast and ovarian cancers. Successful therapies targeted specifically at these neoplasms…”
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Sensitivity and Acquired Resistance of BRCA1 ;p53-Deficient Mouse Mammary Tumors to the Topoisomerase I Inhibitor Topotecan by ZANDER, Serge A. L, KERSBERGEN, Ariena, BORST, Piet, ROTTENBERG, Sven, VAN DER BURG, Eline, DE WATER, Niels, VAN TELLINGEN, Olaf, GUNNARSDOTTIR, Sjöfn, JASPERS, Janneke E, PAJIC, Marina, NYGREN, Anders O. H, JONKERS, Jos

“…There is no tailored therapy yet for human basal-like mammary carcinomas. However, BRCA1 dysfunction is frequently present in these malignancies, compromising…”
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Methylation-Specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences by Nygren, Anders O. H., Ameziane, Najim, Duarte, Helena M. B., Vijzelaar, Raymon N. C. P., Waisfisz, Quinten, Hess, Corine J., Schouten, Jan P., Errami, Abdellatif

“…Copy number changes and CpG methylation of various genes are hallmarks of tumor development but are not yet widely used in diagnostic settings. The recently…”
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An SPG3A whole gene deletion neither co-segregates with disease nor modifies phenotype in a hereditary spastic paraplegia family with a pathogenic SPG4 deletion by Beetz, Christian, Nygren, Anders O H, Deufel, Thomas, Reid, Evan

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REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 by Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P.H., Frints, Suzanna G.M., van Zelst-Stams, Wendy A.G., Byrne, Paula, Otto, Susanne, Nygren, Anders O.H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J.M., Schrander-Stumpel, Constance T.R.M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan

“…Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP)…”
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High-resolution mapping of the 8p23.1 beta-defensin cluster reveals strictly concordant copy number variation of all genes by Groth, Marco, Szafranski, Karol, Taudien, Stefan, Huse, Klaus, Mueller, Oliver, Rosenstiel, Philip, Nygren, Anders O.H, Schreiber, Stefan, Birkenmeier, Gerd, Platzer, Matthias

“…One unexpected feature of the human genome is the high structural variability across individuals. Frequently, large regions of the genome show structural…”
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A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree by MITNE, Miguel, KOK, Fernando, NYGREN, Anders O. H, VALADARES, Marcos, CERQUEIRA, Antonia M. P, STARLING, Alessandra, DEUFEL, Thomas, ZATZ, Mayana, BEETZ, Christian, PESSOA, André, BUENO, Clarissa, GRACIANI, Zodja, MARTYN, Marcilia, MONTEIRO, Carlos B. M, MITNE, Guilherme, HUBERT, Paulo

“…SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and…”
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Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification by Djarmati, Ana, Gužvić, Miodrag, Grünewald, Anne, Lang, Anthony E., Pramstaller, Peter P., Simon, David K., Kaindl, Angela M., Vieregge, Peter, Nygren, Anders O. H., Beetz, Christian, Hedrich, Katja, Klein, Christine

“…Because of the occurrence of different types of mutations, comprehensive genetic testing for Parkinson's disease (PD), dopa‐responsive dystonia (DRD), and…”
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Ultrasensitive Detection of Multiplexed Somatic Mutations Using MALDI-TOF Mass Spectrometry by Mosko, Michael J, Nakorchevsky, Aleksey A, Flores, Eunice, Metzler, Heath, Ehrich, Mathias, van den Boom, Dirk J, Sherwood, James L, Nygren, Anders O.H

“…Multiplex detection of low-frequency mutations is becoming a necessary diagnostic tool for clinical laboratories interested in noninvasive prognosis and…”
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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia by Newton, Timothy, Allison, Rachel, Edgar, James R, Lumb, Jennifer H, Rodger, Catherine E, Manna, Paul T, Rizo, Tania, Kohl, Zacharias, Nygren, Anders O H, Arning, Larissa, Schüle, Rebecca, Depienne, Christel, Goldberg, Lisa, Frahm, Christiane, Stevanin, Giovanni, Durr, Alexandra, Schöls, Ludger, Winner, Beate, Beetz, Christian, Reid, Evan

“…The mechanisms underlying disease modifier gene effects are rarely understood. Newton et al. report that deletion of DPY30 reduces age at onset in hereditary…”
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Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany by Birk Møller, Lisbeth, Nygren, Anders O.H., Scott, Patrick, Hougaard, Pia, Bieber Nielsen, Jytte, Hartmann, Caroline, Güttler, Flemming, Tyfield, Linda, Zschocke, Johannes

“…Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by mutations of the gene encoding phenylalanine hydroxylase (PAH). More than 500…”
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Fluorescent resonance energy transfer (FRET) based detection of a multiplex ligation-dependent probe amplification assay (MLPA) product by Ozalp, V Cengiz, Nygren, Anders O H, O'Sullivan, Ciara K

“…A fluorescent resonance energy transfer (FRET)-based hybridization assay for detecting multiplex ligation-dependent probe amplification (MLPA) products has…”
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Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p by Shapiro, Adam J., MD, Weck, Karen E., MD, Chao, Kay C., MS, PhD, Rosenfeld, Margaret, MD, MPH, Nygren, Anders O.H., MSc, PhD, Knowles, Michael R., MD, Leigh, Margaret W., MD, Zariwala, Maimoona A., MSc, PhD

“…Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by…”
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