Search Results - "Hofmann, Winfried"

Deciphering the molecular complexity of the IKZF1plus genomic profile using Optical Genome Mapping by Lühmann, Jonathan L., Zimmermann, Martin, Hofmann, Winfried, Bergmann, Anke K., Möricke, Anja, Cario, Gunnar, Schrappe, Martin, Schlegelberger, Brigitte, Stanulla, Martin, Steinemann, Doris

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MDS1 and EVI1 complex locus (MECOM): a novel candidate gene for hereditary hematological malignancies by Ripperger, Tim, Hofmann, Winfried, Koch, Jan C, Shirneshan, Katayoon, Haase, Detlef, Wulf, Gerald, Issing, Peter R, Karnebogen, Matthias, Schmidt, Gunnar, Auber, Bernd, Schlegelberger, Brigitte, Illig, Thomas, Zirn, Birgit, Steinemann, Doris

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Candidate genes and sequence variants for susceptibility to mycobacterial infection identified by whole-exome sequencing by Varzari, Alexander, Deyneko, Igor V., Bruun, Gitte Hoffmann, Dembic, Maja, Hofmann, Winfried, Cebotari, Victor M., Ginda, Sergei S., Andresen, Brage S., Illig, Thomas

“…Inborn errors of immunity are known to influence susceptibility to mycobacterial infections. The aim of this study was to characterize the genetic profile of…”
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Systematic genetic analysis of pediatric patients with autoinflammatory diseases by Poker, Yvonne, von Hardenberg, Sandra, Hofmann, Winfried, Tang, Ming, Baumann, Ulrich, Schwerk, Nicolaus, Wetzke, Martin, Lindenthal, Viola, Auber, Bernd, Schlegelberger, Brigitte, Ott, Hagen, von Bismarck, Philipp, Viemann, Dorothee, Dressler, Frank, Klemann, Christian, Bergmann, Anke Katharina

“…Monogenic autoinflammatory diseases (AID) encompass a growing group of inborn errors of the innate immune system causing unprovoked or exaggerated systemic…”
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Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity by Penkert, Judith, Schmidt, Gunnar, Hofmann, Winfried, Schubert, Stephanie, Schieck, Maximilian, Auber, Bernd, Ripperger, Tim, Hackmann, Karl, Sturm, Marc, Prokisch, Holger, Hille-Betz, Ursula, Mark, Dorothea, Illig, Thomas, Schlegelberger, Brigitte, Steinemann, Doris

“…Breast cancer is the most prevalent tumor entity in Li-Fraumeni syndrome. Up to 80% of individuals with a Li-Fraumeni-like phenotype do not harbor detectable…”
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Hypoxia Attenuates Pressure Overload-Induced Heart Failure by Froese, Natali, Szaroszyk, Malgorzata, Galuppo, Paolo, Visker, Joseph R, Werlein, Christopher, Korf-Klingebiel, Mortimer, Berliner, Dominik, Reboll, Marc R, Hamouche, Rana, Gegel, Simona, Wang, Yong, Hofmann, Winfried, Tang, Ming, Geffers, Robert, Wende, Adam R, Kühnel, Mark P, Jonigk, Danny D, Hansmann, Georg, Wollert, Kai C, Abel, E Dale, Drakos, Stavros G, Bauersachs, Johann, Riehle, Christian

“…Alveolar hypoxia is protective in the context of cardiovascular and ischemic heart disease; however, the underlying mechanisms are incompletely understood. The…”
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Routes of Clonal Evolution into Complex Karyotypes in Myelodysplastic Syndrome Patients with 5q Deletion by Feurstein, Simone, Thomay, Kathrin, Hofmann, Winfried, Buesche, Guntram, Kreipe, Hans, Thol, Felicitas, Heuser, Michael, Ganser, Arnold, Schlegelberger, Brigitte, Göhring, Gudrun

“…Myelodysplastic syndrome (MDS) can easily transform into acute myeloid leukemia (AML), a process which is often associated with clonal evolution and…”
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Telomere shortening and chromosomal instability in myelodysplastic syndromes by Lange, Kathrin, Holm, Lisa, Vang Nielsen, Kirsten, Hahn, Andreas, Hofmann, Winfried, Kreipe, Hans, Schlegelberger, Brigitte, Göhring, Gudrun

“…Telomere shortening and chromosomal instability are believed to play an important role in the development of myeloid neoplasia. So far, published data are only…”
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P322: DECIPHERING THE UNDERLYING MOLECULAR COMPLEXITY OF THE IKZF1PLUS SIGNATURE by Lühmann, Jonathan, Hofmann, Winfried, Katharina Bergmann, Anke, Möricke, Anja, Cario, Gunnar, Schrappe, Martin, Schlegelberger, Brigitte, Zimmermann, Martin, Stanulla, Martin, Steinemann, Doris

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Comprehensive MALDI-TOF biotyping of the non-redundant Harvard Pseudomonas aeruginosa PA14 transposon insertion mutant library by Oumeraci, Tonio, Jensen, Vanessa, Talbot, Steven R, Hofmann, Winfried, Kostrzewa, Markus, Schlegelberger, Brigitte, von Neuhoff, Nils, Häussler, Susanne

“…Pseudomonas aeruginosa is a gram-negative bacterium that is ubiquitously present in the aerobic biosphere. As an antibiotic-resistant facultative pathogen, it…”
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From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high‐throughput sequencing by Luttikhuizen, Jana Lisa, Bublitz, Janin, Schubert, Stephanie, Schmidt, Gunnar, Hofmann, Winfried, Morlot, Susanne, Buurman, Reena, Auber, Bernd, Schlegelberger, Brigitte, Steinemann, Doris

“…Background Germline mutations in BRCA1/2 significantly contribute to hereditary breast and/or ovarian cancer. Here, we report a novel BRCA2 duplication of…”
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Clonal heterogeneity in childhood myelodysplastic syndromes-Challenge for the detection of chromosomal imbalances by array-CGH by Praulich, Inka, Tauscher, Marcel, Göhring, Gudrun, Glaser, Stefanie, Hofmann, Winfried, Feurstein, Simone, Flotho, Christian, Lichter, Peter, Niemeyer, Charlotte M., Schlegelberger, Brigitte, Steinemann, Doris

“…To evaluate whether copy number alterations (CNAs) are present that may contribute to disease development and/or progression of childhood myelodysplastic…”
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Cytogenetic follow-up by karyotyping and fluorescence in situ hybridization: implications for monitoring patients with myelodysplastic syndrome and deletion 5q treated with lenalidomide by GÖHRING, Gudrun, GIAGOUNIDIS, Aristoteles, BÜSCHE, Guntram, HOFMANN, Winfried, KREIPE, Hans Heinrich, FENAUX, Pierre, HELLSTRÖM-LINDBERG, Eva, SCHLEGELBERGER, Brigitte

“…In patients with low and intermediate risk myelodysplastic syndrome and deletion 5q (del(5q)) treated with lenalidomide, monitoring of cytogenetic response is…”
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Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair by Kalasova, Ilona, Hailstone, Richard, Bublitz, Janin, Bogantes, Jovel, Hofmann, Winfried, Leal, Alejandro, Hanzlikova, Hana, Caldecott, Keith W

“…Abstract Hereditary mutations in polynucleotide kinase-phosphatase (PNKP) result in a spectrum of neurological pathologies ranging from neurodevelopmental…”
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Analysis of Array-CGH Data Using the R and Bioconductor Software Suite by Schlegelberger, Brigitte, Steinemann, Doris, Hofmann, Winfried A., Wingen, Luzie U., Buurman, Reena, Focken, Tim, Weigmann, Anja, Tauscher, Marcel, Skawran, Britta

“…Background. Array-based comparative genomic hybridization (array-CGH) is an emerging high-resolution and high-throughput molecular genetic technique that…”
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The identification of pathogenic variants in BRCA1/2 negative, high risk, hereditary breast and/or ovarian cancer patients: High frequency of FANCM pathogenic variants by Schubert, Stephanie, Luttikhuizen, Jana L., Auber, Bernd, Schmidt, Gunnar, Hofmann, Winfried, Penkert, Judith, Davenport, Colin F., Hille‐Betz, Ursula, Wendeburg, Lena, Bublitz, Janin, Tauscher, Marcel, Hackmann, Karl, Schröck, Evelin, Scholz, Caroline, Wallaschek, Hannah, Schlegelberger, Brigitte, Illig, Thomas, Steinemann, Doris

“…NGS‐based multiple gene panel resequencing in combination with a high resolution CGH‐array was used to identify genetic risk factors for hereditary breast…”
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CTLA-4 Insufficiency due to a Novel CTLA-4 Deletion, Identified through Copy Number Variation Analysis by Olfe, Lisa, von Hardenberg, Sandra, Hofmann, Winfried, Auber, Bernd, Baumann, Ulrich, Beier, Rita, Adriawan, Ignatius Ryan, Atschekzei, Faranaz, Witte, Torsten, Sogkas, Georgios

“…The diagnostic yield of next-generation sequencing (NGS) technologies in the diagnosis of monogenic inborn errors of immunity (IEI) remains limited, rarely…”
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Frequency and prognostic impact of PAX5 p.P80R in pediatric acute lymphoblastic leukemia patients treated on an AIEOP‐BFM acute lymphoblastic leukemia protocol by Jung, Mareike, Schieck, Maximilian, Hofmann, Winfried, Tauscher, Marcel, Lentes, Jana, Bergmann, Anke, Stelter, Marie, Möricke, Anja, Alten, Julia, Schlegelberger, Brigitte, Schrappe, Martin, Zimmermann, Martin, Stanulla, Martin, Cario, Gunnar, Steinemann, Doris

“…PAX5 is a member of the paired box (PAX) family of transcription factors involved in B‐cell development. PAX5P80R has recently been described as a distinct…”
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Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains by Wan, Rensheng, Schieck, Maximilian, Caballero-Oteyza, Andrés, Hofmann, Winfried, Cochino, Alexis Virgil, Shcherbina, Anna, Sherkat, Roya, Wache-Mainier, Clarisse, Fernandez, Anita, Sultan, Marc, Illig, Thomas, Grimbacher, Bodo, Proietti, Michele, Steinemann, Doris

“…Inborn errors of immunity (IEI) are genetically driven disorders. With the advancement of sequencing technologies, a rapidly increasing number of gene defects…”
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Cryptic TCF3 fusions in childhood leukemia: Detection by RNA sequencing by Salim, Mustafa, Heldt, Frederik, Thomay, Kathrin, Lentes, Jana, Behrens, Yvonne Lisa, Kaune, Beate, Möricke, Anja, Cario, Gunnar, Schieck, Maximilian, Hofmann, Winfried, Davenport, Claudia, Steinemann, Doris, Schrappe, Martin, Schlegelberger, Brigitte, Göhring, Gudrun

“…Acute lymphoblastic leukemia (ALL) is the most frequent malignancy in childhood and adolescence. In more than 60% of cases of this heterogeneous disease, a…”
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