D Lohmann

Summary

Affiliation: University of Essen
Country: Germany

Publications

  1. ncbi request reprint Retinoblastoma: revisiting the model prototype of inherited cancer
    Dietmar R Lohmann
    Institut fur Humangenetik, Hufelandstrasse 55, D 45122 Essen, Germany
    Am J Med Genet C Semin Med Genet 129:23-8. 2004
  2. ncbi request reprint 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 15
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Cytogenet Cell Genet 76:164-6. 1997
  3. pmc Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Am J Hum Genet 61:282-94. 1997
  4. ncbi request reprint [Genetic and molecular diagnostics in retinoblastoma]
    D Lohmann
    Institut für Humangenetik der Universität, Essen
    Klin Monbl Augenheilkd 213:191-6. 1998
  5. ncbi request reprint Spectrum of small length germline mutations in the RB1 gene
    D R Lohmann
    Institut fur Humangenetik, Universitäklinikum Essen, Germany
    Hum Mol Genet 3:2187-93. 1994
  6. ncbi request reprint [Retinoblastoma]
    N Bornfeld
    Zentrum für Augenheilkunde, Universitatsklinikum Essen
    Ophthalmologe 103:59-76; quiz 77-8. 2006
  7. ncbi request reprint Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
    D R Lohmann
    Institut fur Humangenetik, Universitatsklinikum Essen, Germany
    Hum Genet 94:349-54. 1994
  8. ncbi request reprint Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression
    P Albrecht
    Institut fur Humangenetik, Universitat Duisburg Essen, Essen, Germany
    Hum Mutat 26:437-45. 2005
  9. ncbi request reprint RB1 gene mutations in retinoblastoma
    D R Lohmann
    Institut fur Humangenetik, Universitätsklinkum Essen, Germany
    Hum Mutat 14:283-8. 1999
  10. doi request reprint [Uveal melanoma: current insights into clinical relevance of genetic testing]
    C H Metz
    Klinik fur Augenheilkunde, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstrasse 55, Essen
    Klin Monbl Augenheilkd 230:686-91. 2013

Collaborators

Detail Information

Publications23

  1. ncbi request reprint Retinoblastoma: revisiting the model prototype of inherited cancer
    Dietmar 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...
  2. ncbi request reprint 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 15
    D 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...
  3. pmc Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma
    D 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...
  4. ncbi request reprint [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...
  5. ncbi request reprint Spectrum of small length germline mutations in the RB1 gene
    D 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...
  6. ncbi request reprint [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...
  7. ncbi request reprint Distinct RB1 gene mutations with low penetrance in hereditary retinoblastoma
    D 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...
  8. ncbi request reprint Spectrum of gross deletions and insertions in the RB1 gene in patients with retinoblastoma and association with phenotypic expression
    P 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...
  9. ncbi request reprint RB1 gene mutations in retinoblastoma
    D 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...
  10. doi request reprint [Uveal melanoma: current insights into clinical relevance of genetic testing]
    C H Metz
    Klinik fur Augenheilkunde, Universitatsklinikum Essen, Universitat Duisburg Essen, Hufelandstrasse 55, Essen
    Klin Monbl Augenheilkd 230:686-91. 2013
    ..Moreover relatives of these patients should be offered a screening for BAP1 mutation. ..
  11. pmc Detection of homozygous deletions in tumors by hybridization of representational difference analysis (RDA) products to chromosome-specific YAC clone arrays
    M 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...
  12. doi request reprint Current concepts for diagnosis and treatment of retinoblastoma in Germany: aiming for safe tumor control and vision preservation
    P Temming
    Department of Pediatric Hematology and Oncology, University Hospital Essen, Essen, Germany
    Klin Padiatr 224:339-47. 2012
    ..Multicenter clinical trials are being developed to evaluate evidence-based treatment concepts for localized and metastasized retinoblastoma to improve survival rates and quality of life of children with retinoblastoma...
  13. ncbi request reprint Partial deletions of the long and short arm of chromosome 3 point to two tumor suppressor genes in uveal melanoma
    F 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...
  14. doi request reprint Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression
    Katherine 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...
  15. ncbi request reprint Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma
    Sandrine 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...
  16. ncbi request reprint Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
    Ozge 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...
  17. ncbi request reprint Gains and overexpression identify DEK and E2F3 as targets of chromosome 6p gains in retinoblastoma
    Corinna 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...
  18. ncbi request reprint Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization
    Boris 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...
  19. ncbi request reprint Genomic gains on chromosome 1q in retinoblastoma: consequences on gene expression and association with clinical manifestation
    Sandrine 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...
  20. pmc A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene
    Martina 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...
  21. pmc A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus
    Michael 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...
  22. ncbi request reprint Loss of heterozygosity of 1p in uveal melanomas with monosomy 3
    Thomas 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...
  23. ncbi request reprint Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell lines
    Harald 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...