Search Results - "Zeschnigk, M."
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Molecular pathology of uveal melanoma
Published in Eye (London) (01-02-2013)“…Like other cancers, uveal melanomas (UM) are characterised by an uncontrolled, clonal, cellular proliferation, occurring as a result of numerous genetic, and…”
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2
TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours
Published in British journal of cancer (23-07-2013)“…Background: Recently, activating mutations in the TERT promoter were identified in cutaneous melanoma. We tested a cohort of ocular melanoma samples for…”
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Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study
Published in British journal of cancer (13-03-2012)“…Background: In uveal melanoma (UM), the most frequent primary intraocular tumour in adults, loss of one entire chromosome 3 (monosomy 3 (M3)) is observed in…”
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4
The lung microbiome in patients with pneumocystosis
Published in BMC pulmonary medicine (04-12-2017)“…Pneumocystis jirovecii pneumonia (PCP) is an opportunistic fungal infection that is associated with a high morbidity and mortality in immunocompromised…”
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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
Published in Human genetics (01-08-2013)“…Nager syndrome (MIM #154400) is the best-known preaxial acrofacial dysostosis, mainly characterized by craniofacial and preaxial limb anomalies. The…”
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A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus
Published in Nucleic acids research (01-01-2004)“…Altered methylation patterns have been found to play a role in developmental disorders, cancer and aging. Increasingly, changes in DNA methylation are used as…”
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Uveal melanoma: current insights into clinical relevance of genetic testing
Published in Klinische Monatsblatter fur Augenheilkunde (01-07-2013)“…Uveal melanoma is the most common primary intraocular tumour in Caucasians. There are approximately 500 new cases of uveal melanoma in Germany per year and the…”
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Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression
Published in Human mutation (01-11-2005)“…Quantitative multiplex PCR and genomic real‐time PCR were used to complete an RB1 mutation analysis in 57 of 433 and 72 of 262 patients with hereditary and…”
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Expression of MCSP and PRAME in conjunctival melanoma
Published in British journal of ophthalmology (01-10-2010)“…To analyse the expression of melanoma chondroitin sulfate proteoglycan (MCSP) and the preferentially expressed antigen of melanoma (PRAME) in conjunctival…”
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10
Expression pattern of M‐cadherin in normal, denervated, and regenerating mouse muscles
Published in Developmental dynamics (01-04-1994)“…Following muscle damage in adult vertebrates, myofibers can be regenerated from muscle precursor cells (satellite cells). During this process, prenatal…”
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Imprinted Segments in the Human Genome: Different Dna Methylation Patterns in the Prader-Willi/Angelman Syndrome Region As Determined by the Genomic Sequencing Method
Published in Human molecular genetics (01-03-1997)“…A deletion of 15q11-q13 and uniparental disomy 15 lead to Prader-Labhart-Willi syndrome (PWS) or Angelman syndrome (AS) because this region contains genes…”
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12
Chemosensitivity of conjunctival melanoma cell lines to chemotherapeutic agents
Published in International journal of clinical pharmacology and therapeutics (01-01-2011)Get full text
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13
A PCR test for the detection of hypermethylated alleles at the retinoblastoma locus
Published in Journal of medical genetics (01-10-1999)Get full text
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14
Methylation analysis of the PWS/AS region does not support an enhancer-competition model
Published in Nature genetics (01-08-1998)“…In a recent article in Nature Genetics, Tilghman et al. propose an enhancer-competition model to explain genomic imprinting in the Prader-Willi/Angelman…”
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Immunotherapy of uveal melanoma: vaccination against cancer. Multicenter adjuvant phase 3 vaccination study using dendritic cells laden with tumor RNA for large newly diagnosed uveal melanoma
Published in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft (01-12-2015)“…Uveal melanomas are the most common malignant tumors of the eye. With modern molecular biological diagnostic methods, such as chromosome 3 typing and gene…”
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Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays
Published in Nucleic acids research (01-11-1999)“…Representational difference analysis (RDA), a subtractive hybridization method that enriches differences between complex genomes, can be used to isolate…”
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Tumor classification based on gene expression profiling shows that uveal melanomas with and without monosomy 3 represent two distinct entities
Published in Cancer research (Chicago, Ill.) (15-05-2003)“…Uveal melanoma is the most common intraocular malignancy. About 50% of patients die of metastases, which almost exclusively originate from primary tumors that…”
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Methylation and Silencing of the Retinoic Acid Receptor-β2 Gene in Breast Cancer
Published in JNCI : Journal of the National Cancer Institute (17-05-2000)“…Background: A growing body of evidence supports the hypotheses that the retinoic acid receptor β2 (RAR-β2) gene is a tumor suppressor gene and that the…”
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Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
Published in Human molecular genetics (01-11-2004)“…Angelman syndrome is a neurogenetic disorder caused by the loss of function of the imprinted UBE3A gene in 15q11–q13. In a small group of patients, the disease…”
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Loss of heterozygosity of 1p in uveal melanomas with monosomy 3
Published in International journal of cancer (10-10-2005)“…Gains and losses of chromosomes 1, 3, 6 and 8 are nonrandom chromosomal aberrations in uveal melanoma. Monosomy 3 is the most frequent abnormality and is…”
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