Research Topics
| D LohmannSummaryAffiliation: University of Essen Country: Germany Publications
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Detail Information
Publications
Retinoblastoma: revisiting the model prototype of inherited cancerDietmar R Lohmann
Institut fur Humangenetik, Hufelandstrasse 55, D 45122 Essen, Germany
Am J Med Genet C Semin Med Genet 129:23-8. 2004..Moreover, detailed analysis of genotype-phenotype relations shows that hereditary retinoblastoma has features of a complex trait...- The murine Ext1 gene shows a high level of sequence similarity with its human homologue and is part of a conserved linkage group on chromosome 15D R Lohmann
Institut fur Humangenetik, Universitatsklinikum Essen, Germany
Cytogenet Cell Genet 76:164-6. 1997..55 cM between D15Mit143 and D15Mit153 on mouse chromosome 15. Therefore, Ext1 is part of an evolutionarily conserved linkage group including SDC2/Hspg1, TRHR/Trhr, EXT1/Ext1, MYC/Myc, and TG/Tgn... 
Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastomaD R Lohmann
Institut fur Humangenetik, Universitatsklinikum Essen, Germany
Am J Hum Genet 61:282-94. 1997..In conclusion, our results emphasize that the manifestation and transmissibility of retinoblastoma depend on the nature of the first mutation, its time in development, and the number and types of cells that are affected...- [Genetic and molecular diagnostics in retinoblastoma]D Lohmann
Institut für Humangenetik der Universität, Essen
Klin Monbl Augenheilkd 213:191-6. 1998..Using these methods, the oncogenic mutation can be identified in most patients. Therefore, predictive testing has become an integral part of contemporary management of retinoblastoma... - Spectrum of small length germline mutations in the RB1 geneD R Lohmann
Institut fur Humangenetik, Universitäklinikum Essen, Germany
Hum Mol Genet 3:2187-93. 1994..Particularly, the two patients with in-frame mutations showed a high number of tumours consistent with regular-penetrance retinoblastoma... - [Retinoblastoma]N Bornfeld
Zentrum für Augenheilkunde, Universitatsklinikum Essen
Ophthalmologe 103:59-76; quiz 77-8. 2006..Molecular genetic research on the origin of retinoblastomas has substantially helped in our understanding of the origin of malignant tumors in general, as well as to the key role of the Rb-1 gene as a tumor suppressor... - Distinct RB1 gene mutations with low penetrance in hereditary retinoblastomaD R Lohmann
Institut fur Humangenetik, Universitatsklinikum Essen, Germany
Hum Genet 94:349-54. 1994..We propose that reduced penetrance of retinoblastoma is the result of a residual function of these alleles in retinoblastoma precursor cells... - RB1 gene mutations in retinoblastomaD R Lohmann
Institut fur Humangenetik, Universitätsklinkum Essen, Germany
Hum Mutat 14:283-8. 1999..Missense mutations and inframe deletions are rare. Some of these mutations are associated with a distinct phenotype marked by incomplete penetrance and reduced expressivity... - Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expressionP Albrecht
Institut fur Humangenetik, Universitat Duisburg Essen, Essen, Germany
Hum Mutat 26:437-45. 2005..Specifically, carriers of cytogenetic and submicroscopic whole gene deletions often have unilateral tumors only. By contrast, almost all patients with gross deletions with one breakpoint in RB1 have bilateral retinoblastoma... - Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arraysM Zeschnigk
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
Nucleic Acids Res 27:e30. 1999..This shows that our novel approach can be effective... - Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanomaF Tschentscher
Institut fur Humangenetik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
Cancer Res 61:3439-42. 2001..5 Mb in 3p25. This SRO does not overlap with the VHL gene. Our finding suggests a role for two tumor suppressor genes in metastasizing uveal melanoma and may explain the loss of an entire chromosome 3 in these tumors... - Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastomaSandrine Gratias
Institut fur Humangenetik, Institut fur Zellbiologie, and Augenklinik, Universitatsklinikum Essen, Hufelandstrasse 55, D 45122 Essen, Germany
Cancer Res 67:408-16. 2007..Specifically, almost all retinoblastomas with 16q24 loss showed diffuse intraocular seeding. This suggests that genetic alterations in the minimal deleted region are associated with impaired cell-to-cell adhesion... - Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastomaCorinna Grasemann
University Children s Hospital of Essen, Universitatsklinikum Essen, D 45122 Essen, Germany
Oncogene 24:6441-9. 2005..In summary, our results suggest that DEK and E2F3 are potential targets of 6p gains in retinoblastoma... - Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridizationBoris Zielinski
German Cancer Research Center, Division of Molecular Genetics, Heidelberg, Germany
Genes Chromosomes Cancer 43:294-301. 2005..2 and 1p33. Thus, this study identified new chromosomal regions and therefore potential candidate genes that may play a role in retinoblastoma... - Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestationSandrine Gratias
Department of Human Genetics, University of Duisburg-Essen, Essen, Germany
Int J Cancer 116:555-63. 2005..The genes on 1q with copy number gains and overexpression are candidates that need to be tested for their individual contribution to the progression of Rb... - A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locusMichael Zeschnigk
Institut fur Humangenetik, Hufelandstrasse 55, D 45122 Essen, Germany
Nucleic Acids Res 32:e125. 2004..Because the high sequence specificity inherent to the MGB technology is widely used to discriminate single nucleotide polymorphisms, QAMA potentially can be used to discriminate the methylation status of single CpG dinucleotides... - Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationOzge Altug Teber
Institut fur Humangenetik, Universitatsklinikum, Essen, Germany
Eur J Hum Genet 12:879-90. 2004..The difficulties in genetic counselling, especially diagnosis of family members with a mild phenotype, are described... - A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 geneMartina Klutz
Institut fur Humangenetik, Universitatsklinikum Essen, Germany
Am J Hum Genet 71:174-9. 2002..Our data suggest that a specific RB1 mutation can be associated with differential penetrance, on the basis of the sex of the transmitting parent... 
Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expressionKatherine Zhang
Retinoblastoma Solutions, University Health Network, Toronto, Ontario, Canada
Hum Mutat 29:475-84. 2008..However, the location of a mutation relative to the splice sequence has a strong and consistent influence on phenotypic expression...- Loss of heterozygosity of 1p in uveal melanomas with monosomy 3Thomas Häusler
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
Int J Cancer 116:909-13. 2005..On the basis of our data and published cytogenetic data, we propose that 1p31 harbors genes involved in the progression of uveal melanoma with monosomy 3... - Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell linesHarald Stephan
Department of Pediatric Hematology, Oncology and Endocrinology, University Hospital of Essen, Essen, Germany
Pediatr Blood Cancer 50:218-22. 2008..Expression of Trk receptors has been implicated in the pathogenesis and prognosis of embryonal tumors, including neuroblastoma, nephroblastoma, and medulloblastoma...