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Facharzt/-ärztin, Institut für Humangenetik
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Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.
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No indications of weight gain associated DNA methylation changes in patients with anorexia nervosaIn: Scientific Reports, Jg. 15, 2025, Nr. 1, 28870DOI (Open Access)
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Presence of tumor DNA in aqueous humor is correlated with high risk uveal melanomaIn: Scientific Reports, Jg. 15, 2025, Nr. 1, 19406DOI (Open Access)
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Die „onkologische Spur“ : zirkulierende Tumor-DNA beim AderhautmelanomIn: Die Ophthalmologie, Jg. 121, 2024, Nr. 12, S. 963 – 968
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Mass Spectrometry-Based Profiling of Histone Post-Translational Modifications in Uveal Melanoma Tissues, Human Melanocytes, and Uveal Melanoma Cell Lines : A Pilot StudyIn: Investigative Ophthalmology & Visual Science (IOVS), Jg. 65, 2024, Nr. 2, 27DOI (Open Access)
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Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylationIn: Clinical Epigenetics, Jg. 16, 2024, Nr. 1, 13DOI, Online Volltext (Open Access)
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Analysis of uveal melanomas and paired constitutional DNA for exclusion of a BAP1-tumor predisposition syndromeIn: Familial Cancer, Jg. 22, 2023, Nr. 2, S. 193 – 202DOI (Open Access)
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Reduced Staphylococcus Abundance Characterizes the Lesional Microbiome of Actinic Keratosis Patients after Field-Directed TherapiesIn: Microbiology Spectrum, Jg. 11, 2023, Nr. 3, e04401-22DOI (Open Access)
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Release of Cell-Free Tumor DNA in the Plasma of Uveal Melanoma Patients Under RadiotherapyIn: Investigative Ophthalmology & Visual Science (IOVS), Jg. 64, 2023, Nr. 13, 35DOI (Open Access)
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CRISPR/Cas9-mediated demethylation of FOXP3-TSDR toward Treg-characteristic programming of Jurkat T cellsIn: Cellular Immunology, Jg. 371, 2022, 104471
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No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorderIn: Scientific Reports, Jg. 12, 2022, Nr. 1, 17347DOI (Open Access)
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Early detection of metastatic uveal melanoma by the analysis of tumor-specific mutations in cell-free plasma DNAIn: Cancer Medicine, Jg. 10, 2021, Nr. 17, S. 5974 – 5982DOI, Online Volltext (Open Access)
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Eye tumors in childhood as first sign of tumor predisposition syndromes : Insights from an observational study conducted in Germany and AustriaIn: Cancers, Jg. 13, 2021, Nr. 8, S. 1876DOI, Online Volltext (Open Access)
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Chromosome 3 is a valid marker for prognostic testing of biopsy material from uveal melanoma later treated by brachytherapyIn: Biomarkers, Jg. 24, 2019, Nr. 2, S. 134 – 140
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GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal HemangiomaIn: Cancers, Jg. 11, 2019, Nr. 7, S. 1031DOI, Online Volltext (Open Access)
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Next-Generation-Sequencing in der EpigenetikIn: Medizinische Genetik, Jg. 31, 2019, Nr. 2, S. 205 – 211DOI (Open Access)
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Secondary somatic mutations in g-protein-related pathways and mutation signatures in Uveal melanomaIn: Cancers, Jg. 11, 2019, Nr. 11, S. 1688DOI (Open Access)
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The Interdisciplinary Diagnosis and Treatment of Intraocular TumorsIn: Deutsches Ärzteblatt International, Jg. 115, 2018, Nr. 7, S. 106 – 111DOI (Open Access)
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Acquired IFNγ 3 resistance impairs anti-Tumor immunity and gives rise to T-cell-resistant melanoma lesionsIn: Nature Communications, Jg. 8, 2017, 15440DOI (Open Access)
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The lung microbiome in patients with pneumocystosisIn: BMC Pulmonary Medicine, Jg. 17, 2017, Nr. 1, S. 170DOI (Open Access)
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eIF1A residues implicated in cancer stabilize translation preinitiation complexes and favor suboptimal initiation sites in yeastIn: eLife, Jg. 6, 2017, S. e31250DOI (Open Access)
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Analysis of the Expression and Single-Nucleotide Variant Frequencies of the Butyrophilin-like 2 Gene in Patients With Uveal MelanomaIn: JAMA Ophthalmology, Jg. 134, 2016, Nr. 10, S. 1125 – 1133DOI (Open Access)
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Analysis of SDHD promoter mutations in various types of melanomaIn: Journal der Deutschen Dermatologischen Gesellschaft (JDDG), Jg. 13, 2015, Nr. Suppl. 2, S. 11
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Analysis of SDHD promoter mutations in various types of melanomaIn: OncoTarget, Jg. 6, 2015, Nr. 28, S. 25868 – 25882DOI (Open Access)
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Immuntherapie beim Aderhautmelanom: Vakzination gegen Krebs : Multizentrische adjuvante Phase-III- Impfstudie mit Tumor-RNA-beladenen dendritischen Zellen bei neu diagnostizierten, großen UveamelanomenIn: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, Jg. 112, 2015, Nr. 12, S. 1017 – 1021DOI (Open Access)
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Relevance of Foxp3+ regulatory T cells for early and late phases of murine sepsisIn: Immunology, Jg. 146, 2015, Nr. 1, S. 144 – 156DOI (Open Access)
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BAP1 germline mutation in two first grade family members with uveal melanomaIn: British Journal of Ophthalmology (BJO), Jg. 98, 2014, Nr. 2, S. 224 – 227DOI, Online Volltext (Open Access)
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Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown SyndromeIn: The American Journal of Human Genetics, Jg. 95, 2014, Nr. 6, S. 698 – 707DOI, Online Volltext (Open Access)
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Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouseIn: Genome Biology and Evolution, Jg. 6, 2014, Nr. 7, S. 1579 – 1588DOI (Open Access)
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Impact of 5-aza-2'-deoxycytidine and epigallocatechin-3-gallate for induction of human regulatory T cellsIn: Immunology, Jg. 142, 2014, Nr. 3, S. 384 – 395DOI, Online Volltext (Open Access)
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Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patientsIn: Neuroscience Letters, Jg. 566, 2014, S. 241 – 246
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A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodelingIn: Human Molecular Genetics, Jg. 22, 2013, Nr. 25, S. 5121 – 5135
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A new face of Borjeson-Forssman-Lehmann syndrome? : De novo mutations in PHF6 in seven females with a distinct phenotypeIn: Journal of Medical Genetics (eJMG), Jg. 50, 2013, Nr. 12, S. 838 – 847
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Aktuelles zur klinischen Bedeutung genetischer Veränderungen bei malignen Melanomen der UveaIn: Klinische Monatsblätter für Augenheilkunde, Jg. 230, 2013, Nr. 7, S. 686 – 691
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndromeIn: Human Genetics, Jg. 132, 2013, Nr. 8, S. 885 – 898
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Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3In: Nature Genetics, Jg. 45, 2013, Nr. 8, S. 933 – 936
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Lack of SF3B1 R625 mutations in cutaneous melanomaIn: Diagnostic Pathology, Jg. 8, 2013, S. 87DOI (Open Access)
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TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumoursIn: British Journal of Cancer (BJC), Jg. 109, 2013, Nr. 2, S. 497 – 501DOI (Open Access)
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Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanomaIn: Cancer Medicine, Jg. 2, 2013, Nr. 2, S. 208 – 215
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Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma : a long-term follow-up studyIn: British Journal of Cancer (BJC), Jg. 106, 2012, Nr. 6, S. 1171 – 1176
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Quantification of Regulatory T Cells in Septic Patients by Real-Time PCR–Based Methylation Assay and Flow CytometryIn: PLoS ONE, Jg. 7, 2012, Nr. 11, S. e49962DOI, Online Volltext (Open Access)
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Chemosensitivity of conjunctival melanoma cell lines to chemotherapeutic agentsIn: International Journal of Clinical Pharmacology and Therapeutics, Jg. 49, 2011, Nr. 1, S. 78 – 80
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EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylationIn: BMC Cancer, Jg. 11, 2011, S. 380DOI, Online Volltext (Open Access)
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FOXP3 expression in GARP-transduced helper T cells is not associated with FOXP3 TSDR demethylationIn: Transfusion Medicine and Hemotherapy, Jg. 38, 2011, Nr. 5, S. 287 – 291
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Quantification of regulatory T cells in septic patients, a comparison of a methylation-sensitive qRT-PCR and flow cytometry (CD4(+)CD25(++)CD127(-))In: International Journal of Medical Microbiology (IJMM), Jg. 301, 2011, Nr. Suppl. 47, S. 44
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Chemosensitivity of conjunctival melanoma cell lines
Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Onkologie. Berlin, 1.–5. Oktober 2010,In: Onkologie, Jg. 33, 2010, Nr. Suppl. 6, S. 66 -
Expression of MCSP and PRAME in conjunctival melanomaIn: British Journal of Ophthalmology (BJO), Jg. 94, 2010, Nr. 10, S. 1322 – 1327
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Loss of heterozygosity of 1p in uveal melanomas with monosomy 3In: International Journal of Cancer, Jg. 116, 2005, Nr. 6, S. 909 – 913
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Mass spectrometry-based profiling of histone posttranslational modifications in human melanocytes and uveal melanoma cell linesIn: Investigative Ophthalmology & Visual Science (IOVS). Rockville; Rockville, Md.; Bethesda, Md.: Association for Research in Vision and Ophthalmology (ARVO), Jg. 63, 2022, Nr. 7, 2342 – A0011
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cf-DNA and EVs as sources for biomarkers for early detection of second primary malignancies in patients with heritable retinoblastomaIn: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 30, 2022, Nr. Suppl. 1, S. 427
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Psychosocial Impact of prognostic Biomarker Study for Patients with Uveal MelanomaIn: Zeitschrift für Psychosomatische Medizin und Psychotherapie. Göttingen: Vandenhoeck & Ruprecht, Jg. 62, 2016, Nr. 1, S. 37 – 38
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Locus-specific DNA methylation analysis by targeted deep bisulfite sequencingIn: Epigenome Editing: Methods and Protocols / Jeltsch, Albert; Rots, Marianne G. (Hrsg.). New York: Human Press, 2018, S. 351 – 366
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Prognostic Testing in Uveal MelanomaIn: Cancer Genomics: Molecular Classification, Prognosis and Response Prediction / Pfeffer, Ulrich. Dordrecht: Springer Netherlands, 2013, S. 79 – 96