Search Results - "Vossen, Rolf H.A.M"

High-Resolution Melting Analysis (HRMA)--More than just sequence variant screening by Vossen, Rolf H.A.M, Aten, Emmelien, Roos, Anja, den Dunnen, Johan T

“…Transition of the double-stranded DNA molecule to its two single strands, DNA denaturation or melting, has been used for many years to study DNA structure and…”
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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 by Aten, Emmelien, Brasz, Lisa C, Bornholdt, Dorothea, Hooijkaas, Ingeborg B, Porteous, Mary E, Sybert, Virginia P, Vermeer, Maarten H, Vossen, Rolf H.A.M, van der Wielen, Michiel J.R, Bakker, Egbert, Breuning, Martijn H, Grzeschik, Karl-Heinz, Oosterwijk, Jan C, den Dunnen, Johan T

“…Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp…”
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Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms by t Hoen, Peter A.C, Ariyurek, Yavuz, Thygesen, Helene H, Vreugdenhil, Erno, Vossen, Rolf H.A.M, de Menezes, Renée X, Boer, Judith M, van Ommen, Gert-Jan B, den Dunnen, Johan T

“…The hippocampal expression profiles of wild-type mice and mice transgenic for δC-doublecortin-like kinase were compared with Solexa/Illumina deep sequencing…”
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Genotyping DNA Variants with High-Resolution Melting Analysis by Vossen, Rolf H A M

“…High-resolution melting analysis (HRMA) is a simple, quick, and effective method to scan and screen PCR amplicons for sequence variants. HRMA is a…”
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Quantitative DNA Analysis Using Droplet Digital PCR by Vossen, Rolf H A M, White, Stefan J

“…Droplet digital PCR (ddPCR) is based on the isolated amplification of thousands of individual DNA molecules simultaneously, with each molecule…”
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Full-Length Mitochondrial-DNA Sequencing on the PacBio RSII by Vossen, Rolf H A M, Buermans, Henk P J

“…Conventional mitochondrial-DNA (MT DNA) sequencing approaches use Sanger sequencing of 20-40 partially overlapping PCR fragments per individual, which is a…”
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Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing by Buermans, Henk P.J., Vossen, Rolf H.A.M., Anvar, Seyed Yahya, Allard, William G., Guchelaar, Henk-Jan, White, Stefan J., den Dunnen, Johan T., Swen, Jesse J., van der Straaten, Tahar

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Generation and Characterization of Transgenic Mice with the Full-length Human DMD Gene by 't Hoen, Peter A.C., de Meijer, Emile J., Boer, Judith M., Vossen, Rolf H.A.M., Turk, Rolf, Maatman, Ronald G.H.J., Davies, Kay E., van Ommen, Gert-Jan B., van Deutekom, Judith C.T., den Dunnen, Johan T.

“…We report the generation of mice with an intact and functional copy of the 2.3-megabase human dystrophin gene (hDMD), the largest functional stretch of human…”
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Sensitive and Specific KRAS Somatic Mutation Analysis on Whole-Genome Amplified DNA from Archival Tissues by van Eijk, Ronald, van Puijenbroek, Marjo, Chhatta, Amiet R, Gupta, Nisha, Vossen, Rolf H.A.M, Lips, Esther H, Cleton-Jansen, Anne-Marie, Morreau, Hans, van Wezel, Tom

“…Kirsten RAS (KRAS) is a small GTPase that plays a key role in Ras/mitogen-activated protein kinase signaling; somatic mutations in KRAS are frequently found in…”
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High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis by Vossen, Rolf H.A.M., van Duijn, Martine, Daha, Mohamed R., den Dunnen, Johan T., Roos, Anja

“…High Resolution Melting Analysis (HRMA) is a rapid and sensitive method for single nucleotide polymorphism (SNP) analysis. In the present study we present a…”
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Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotides by Bremmer-Bout, Mattie, Aartsma-Rus, Annemieke, de Meijer, Emile J, Kaman, Wendy E, Janson, Anneke A M, Vossen, Rolf H A M, van Ommen, Gert-Jan B, den Dunnen, Johan T, van Deutekom, Judith C T

“…The therapeutic potential of frame-restoring exon skipping by antisense oligonucleotides (AONs) has recently been demonstrated in cultured muscle cells from a…”
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Detection of three single nucleotide polymorphisms in the gene encoding mannose-binding lectin in a single pyrosequencing reaction by Roos, Anja, Dieltjes, Patrick, Vossen, Rolf H.A.M., Daha, Mohamed R., de Knijff, Peter

“…Mannose-binding lectin (MBL) is a key molecule of innate immunity. Binding of MBL to carbohydrates present on pathogens activates the lectin pathway of…”
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Toward predicting CYP2D6-mediated variable drug response from CYP2D6 gene sequencing data by van der Lee, Maaike, Allard, William G, Vossen, Rolf H A M, Baak-Pablo, Renée F, Menafra, Roberta, Deiman, Birgit A L M, Deenen, Maarten J, Neven, Patrick, Johansson, Inger, Gastaldello, Stefano, Ingelman-Sundberg, Magnus, Guchelaar, Henk-Jan, Swen, Jesse J, Anvar, Seyed Yahya

“…Pharmacogenomics is a key component of personalized medicine that promises safer and more effective drug treatment by individualizing drug choice and dose…”
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Flexible and Scalable Full‐Length CYP2D6 Long Amplicon PacBio Sequencing by Buermans, Henk P.J., Vossen, Rolf H.A.M., Anvar, Seyed Yahya, Allard, William G., Guchelaar, Henk‐Jan, White, Stefan J., den Dunnen, Johan T., Swen, Jesse J., der Straaten, Tahar

“…ABSTRACT Cytochrome P450 2D6 (CYP2D6) is among the most important genes involved in drug metabolism. Specific variants are associated with changes in the…”
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Clostridioides difficile infection with isolates of cryptic clade C-II: a genomic analysis of polymerase chain reaction ribotype 151 by Ducarmon, Quinten R, van der Bruggen, Tjomme, Harmanus, Céline, Sanders, Ingrid M J G, Daenen, Laura G M, Fluit, Ad C, Vossen, Rolf H A M, Kloet, Susan L, Kuijper, Ed J, Smits, Wiep Klaas

“…We report a patient case of pseudomembranous colitis associated with a monotoxin-producing Clostridioides difficile belonging to the very rarely diagnosed…”
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Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing by Borràs, Daniel M., Vossen, Rolf H. A. M., Liem, Michael, Buermans, Henk P. J., Dauwerse, Hans, Heusden, Dave, Gansevoort, Ron T., Dunnen, Johan T., Janssen, Bart, Peters, Dorien J. M., Losekoot, Monique, Anvar, Seyed Yahya

“…A genetic diagnosis of autosomal‐dominant polycystic kidney disease (ADPKD) is challenging due to allelic heterogeneity, high GC content, and homology of the…”
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Carriage of three plasmids in a single human clinical isolate of Clostridioides difficile by Roseboom, Anna M., Ducarmon, Quinten R., Hornung, Bastian V.H., Harmanus, Céline, Crobach, Monique J.T., Kuijper, Ed J., Vossen, Rolf H.A.M., Kloet, Susan L., Smits, Wiep Klaas

“…A subset of clinical isolates of Clostridioides difficile contains one or more plasmids and these plasmids can harbor virulence and antimicrobial resistance…”
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Resolving the complete genome of Kuenenia stuttgartiensis from a membrane bioreactor enrichment using Single-Molecule Real-Time sequencing by Frank, Jeroen, Lücker, Sebastian, Vossen, Rolf H. A. M., Jetten, Mike S. M., Hall, Richard J., Op den Camp, Huub J. M., Anvar, Seyed Yahya

“…Anaerobic ammonium-oxidizing (anammox) bacteria are a group of strictly anaerobic chemolithoautotrophic microorganisms. They are capable of oxidizing ammonium…”
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Combining Protein Expression and Molecular Data Improves Mutation Characterization of Dystrophinopathies by Gaina, Gisela, Vossen, Rolf H A M, Manole, Emilia, Plesca, Doina Anca, Ionica, Elena

“…Duchenne and Becker muscular dystrophy are X-linked recessive inherited disorders characterized by progressive weakness due to skeletal muscle degeneration…”
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TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes by Anvar, Seyed Yahya, van der Gaag, Kristiaan J, van der Heijden, Jaap W F, Veltrop, Marcel H A M, Vossen, Rolf H A M, de Leeuw, Rick H, Breukel, Cor, Buermans, Henk P J, Verbeek, J Sjef, de Knijff, Peter, den Dunnen, Johan T, Laros, Jeroen F J

“…Advances in sequencing technologies and computational algorithms have enabled the study of genomic variants to dissect their functional consequence. Despite…”
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