Search Results - "Baudis, M."
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A systematic benchmark of copy number variation detection tools for high density SNP genotyping arrays
Published in Genomics (San Diego, Calif.) (13-11-2024)“…Copy Number Variations (CNVs) are crucial in various diseases, especially cancer, but detecting them accurately from SNP genotyping arrays remains challenging…”
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Translocations involving 8q24 in Burkitt lymphoma and other malignant lymphomas: a historical review of cytogenetics in the light of todays knowledge
Published in Leukemia (01-02-2009)“…Burkitt lymphoma (BL) has a characteristic clinical presentation, morphology, immunophenotype and primary chromosomal aberration, that is, the translocation…”
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DNA copy number imbalances in primary cutaneous lymphomas
Published in Journal of the European Academy of Dermatology and Venereology (01-06-2019)“…Background Cutaneous lymphomas (CL) represent a clinically defined group of extranodal non‐Hodgkin lymphomas harbouring heterogeneous and incompletely…”
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Drought in forest understory ecosystems – a novel rainfall reduction experiment
Published in Biogeosciences (17-02-2015)“…Precipitation patterns across Central Europe are expected to change over the 21st century due to climate change. This may reduce water availability during the…”
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Silver-Russell patients showing a broad range of ICR1 and ICR2 hypomethylation in different tissues
Published in Clinical genetics (01-07-2011)“…Begemann M, Spengler S, Kanber D, Haake A, Baudis M, Leisten I, Binder G, Markus S, Rupprecht T, Segerer H, Fricke‐Otto S, Mühlenberg R, Siebert R, Buiting K,…”
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PKC signaling prevents irradiation-induced apoptosis of primary human fibroblasts
Published in Cell death & disease (01-02-2013)“…Primary cells respond to irradiation by activation of the DNA damage response and cell cycle arrest, which eventually leads to senescence or apoptosis. It is…”
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Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome
Published in Journal of medical genetics (01-05-2010)“…Silver-Russell syndrome (SRS) is a heterogeneous disorder associated with intrauterine and postnatal growth restriction, body asymmetry, a relative…”
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Inferring progression models for CGH data
Published in Bioinformatics (01-09-2009)“…Motivation: One of the mutational processes that has been monitored genome-wide is the occurrence of regional DNA copy number alterations (CNAs), which may…”
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Combined single nucleotide polymorphism-based genomic mapping and global gene expression profiling identifies novel chromosomal imbalances, mechanisms and candidate genes important in the pathogenesis of T-cell prolymphocytic leukemia with inv(14)(q11q32)
Published in Leukemia (01-10-2007)“…T-cell prolymphocytic leukemia (T-PLL) is a rare aggressive lymphoma derived from mature T cells, which is, in most cases, characterized by the presence of an…”
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Losses at chromosome 4q are associated with poor survival in operable ductal pancreatic adenocarcinoma
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01-01-2012)“…Here we tested the prognostic impact of genomic alterations in operable localized pancreatic ductal adenocarcinoma (PDAC). Fifty-two formalin-fixed and…”
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Molecular cellular and functional study of seven rare mutations of CFTR
Published in Journal of cystic fibrosis (01-06-2008)Get full text
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Modification of enzymatic-ally amplified DNA for the detection of point mutations
Published in Nucleic acids research (1989)Get full text
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High-level DNA amplifications are common genetic aberrations in B-cell neoplasms
Published in The American journal of pathology (01-08-1997)“…Gene amplification is one of the molecular mechanisms resulting in the up-regulation of gene expression. In non-Hodgkin's lymphomas, such gene amplifications…”
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A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
Published in Nature genetics (01-04-2020)“…Precision oncology relies on accurate discovery and interpretation of genomic variants, enabling individualized diagnosis, prognosis and therapy selection. We…”
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MUC1 oncogene amplification correlates with protein overexpression in invasive breast carcinoma cells
Published in Cancer genetics and cytogenetics (01-09-2010)“…Abstract The MUC1 gene is aberrantly overexpressed in approximately 90% of human breast cancers. Several studies have shown that MUC1 overexpression is due to…”
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Recurrent loss of heterozygosity in 1p36 associated with TNFRSF14 mutations in IRF4 translocation negative pediatric follicular lymphomas
Published in Haematologica (Roma) (01-08-2013)“…Pediatric follicular lymphoma is a rare disease that differs genetically and clinically from its adult counterpart. With the exception of pediatric follicular…”
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Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization
Published in Cytogenetics and cell genetics (1996)“…We used comparative genomic hybridization to analyze 17 tumor samples from 11 patients with papillary renal cell carcinoma (RCC), including three patients with…”
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Progenetix.net: an online repository for molecular cytogenetic aberration data
Published in Bioinformatics (01-12-2001)“…Through sequencing projects and, more recently, array-based expression analysis experiments, a wealth of genetic data has become accessible via online…”
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Thermische Verletzungen durch Feuerwerkskörper im Kindes- und Jugendalter: Unfallhergang – Verletzungsmuster – Prävention
Published in Monatsschrift Kinderheilkunde (01-12-2020)“…Zusammenfassung Hintergrund Verletzungen durch Feuerwerkskörper treten gehäuft zum Jahreswechsel auf und haben oft schwerwiegende Folgen. Eine Erfassung dieser…”
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