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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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Die „onkologische Spur“ : zirkulierende Tumor-DNA beim AderhautmelanomIn: Die Ophthalmologie (2024) in pressOnline Volltext: dx.doi.org/
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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, 27Online Volltext: dx.doi.org/ (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, 13Online Volltext: dx.doi.org/ (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 - 202Online Volltext: dx.doi.org/ (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, e04401-22Online Volltext: dx.doi.org/ (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, 35Online Volltext: dx.doi.org/ (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) 104471Online Volltext: dx.doi.org/
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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, 17347Online Volltext: dx.doi.org/ (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 - 5982Online Volltext: dx.doi.org/ 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. 1876Online Volltext: dx.doi.org/ 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 - 140Online Volltext: dx.doi.org/
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GNAQ Q209R Mutations Are Highly Specific for Circumscribed Choroidal HemangiomaIn: Cancers Jg. 11 (2019) Nr. 7, S. 1031Online Volltext: dx.doi.org/ Online Volltext (Open Access)
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Next-Generation-Sequencing in der EpigenetikIn: Medizinische Genetik Jg. 31 (2019) Nr. 2, S. 205 - 211Online Volltext: dx.doi.org/ (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. 1688Online Volltext: dx.doi.org/ (Open Access)
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The Interdisciplinary Diagnosis and Treatment of Intraocular TumorsIn: Deutsches Ärzteblatt international Jg. 115 (2018) Nr. 7, S. 106 - 111Online Volltext: dx.doi.org/ (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) 15440Online Volltext: dx.doi.org/ (Open Access)
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The lung microbiome in patients with pneumocystosisIn: BMC Pulmonary Medicine Jg. 17 (2017) Nr. 1, S. 170Online Volltext: dx.doi.org/ (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. e31250Online Volltext: dx.doi.org/ (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 - 1133Online Volltext: dx.doi.org/ (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. 11Online Volltext: dx.doi.org/
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Analysis of SDHD promoter mutations in various types of melanomaIn: OncoTarget Jg. 6 (2015) Nr. 28, S. 25868 - 25882Online Volltext: dx.doi.org/ (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 - 1021Online Volltext: dx.doi.org/ (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 - 156Online Volltext: dx.doi.org/ (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 - 227Online Volltext: dx.doi.org/ 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 - 707Online Volltext: dx.doi.org/ 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 - 1588Online Volltext: dx.doi.org/ (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 - 395Online Volltext: dx.doi.org/ 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 - 246Online Volltext: dx.doi.org/
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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 - 5135Online Volltext: dx.doi.org/
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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 - 847Online Volltext: dx.doi.org/
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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 - 691Online Volltext: dx.doi.org/
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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 - 898Online Volltext: dx.doi.org/
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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 - 936Online Volltext: dx.doi.org/
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Lack of SF3B1 R625 mutations in cutaneous melanomaIn: Diagnostic Pathology Jg. 8 (2013) S. 87Online Volltext: dx.doi.org/ (Open Access)
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Molecular pathology of uveal melanomaIn: Eye Jg. 27 (2013) Nr. 2, S. 230 - 242Online Volltext: dx.doi.org/
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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 - 501Online Volltext: dx.doi.org/ (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 - 215Online Volltext: dx.doi.org/
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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 - 1176Online Volltext: dx.doi.org/
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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. e49962Online Volltext: dx.doi.org/ 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. 380Online Volltext: dx.doi.org/ 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 - 291Online Volltext: dx.doi.org/
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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. 66Online Volltext: dx.doi.org/ -
Expression of MCSP and PRAME in conjunctival melanomaIn: British Journal of Ophthalmology (BJO) Jg. 94 (2010) Nr. 10, S. 1322 - 1327Online Volltext: dx.doi.org/
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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 - 913Online Volltext: dx.doi.org/
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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 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 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 Jg. 62 (2016) Nr. 1, S. 37 - 38Online Volltext: dx.doi.org/
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Locus-specific DNA methylation analysis by targeted deep bisulfite sequencingIn: Epigenome Editing: Methods and Protocols 2018, S. 351 - 366Online Volltext: dx.doi.org/
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Prognostic Testing in Uveal MelanomaIn: Cancer Genomics: Molecular Classification, Prognosis and Response Prediction / Pfeffer, Ulrich 2013, S. 79 - 96Online Volltext: dx.doi.org/