Publications by authors named "Dietmar R Lohmann"

38Publications

The impact of RB1 genotype on incidence of second tumours in heritable retinoblastoma.

Eur J Cancer 2020 07 17;133:47-55. Epub 2020 May 17.

Institute of Human Genetics, University Duisburg-Essen, Essen, Germany; Eye Oncogenetics Research Group, University Hospital Essen, Essen, Germany; German Consortium for Translational Cancer Research (DKTK), Partner Site Essen, and German Cancer Research Center (DKFZ), Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.ejca.2020.04.005DOI Listing
July 2020

Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study.

BMC Psychol 2020 Jan 31;8(1). Epub 2020 Jan 31.

Department of Psychosomatic Medicine and Psychotherapy, Friedrich-Alexander-University Erlangen-Nürnberg (FAU), Erlangen, Germany.

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http://dx.doi.org/10.1186/s40359-020-0371-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995105PMC
January 2020

Ectopic intracranial retinoblastoma in a 3.5-month-old infant without eye involvement and without evidence of heritability.

Pediatr Blood Cancer 2019 05 2;66(5):e27599. Epub 2019 Jan 2.

Division of Pediatric Hematology, Oncology and Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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http://doi.wiley.com/10.1002/pbc.27599
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http://dx.doi.org/10.1002/pbc.27599DOI Listing
May 2019

Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology.

Am J Med Genet A 2017 Apr 7;173(4):1017-1037. Epub 2017 Feb 7.

Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1002/ajmg.a.38142DOI Listing
April 2017

How Eye-Preserving Therapy Affects Long-Term Overall Survival in Heritable Retinoblastoma Survivors.

J Clin Oncol 2016 09 5;34(26):3183-8. Epub 2016 Jul 5.

Petra Temming, Marina Arendt, Anja Viehmann, Lewin Eisele, Claudia H.D. Le Guin, Michael M. Schündeln, Eva Biewald, Jennifer Mäusert, Regina Wieland, Norbert Bornfeld, Wolfgang Sauerwein, Dietmar R. Lohmann, and Karl-Heinz Jöckel, University Hospital Essen, Essen; Petra Temming, Dietmar R. Lohmann, and Karl-Heinz Jöckel, German Consortium for Translational Cancer Research, Heidelberg; and Angelika Eggert, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1200/JCO.2015.65.4012DOI Listing
September 2016

Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma.

Am J Surg Pathol 2016 06;40(6):796-805

*Institute of Neuropathology †Institute of Human Genetics §Department of Opthalmology ∥Institute of Pathology ‡Center for Medical Biotechnology, Microbiology II, University Duisburg-Essen, Essen, Germany.

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http://dx.doi.org/10.1097/PAS.0000000000000645DOI Listing
June 2016

Pediatric second primary malignancies after retinoblastoma treatment.

Pediatr Blood Cancer 2015 Oct 13;62(10):1799-804. Epub 2015 May 13.

Eye Oncogenetics Research Group, University Hospital Essen, Essen, Germany.

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http://dx.doi.org/10.1002/pbc.25576DOI Listing
October 2015

Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction.

Am J Hum Genet 2015 May 23;96(5):765-74. Epub 2015 Apr 23.

Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570288PMC
May 2015

Hereditary Diffuse Infiltrating Retinoblastoma.

Ophthalmic Genet 2016 3;37(1):95-7. Epub 2014 Jun 3.

e Department of Ophthalmology , Vision Institute - IPEPO, Federal University of São Paulo , São Paulo , Brazil.

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http://www.tandfonline.com/doi/full/10.3109/13816810.2014.92
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http://dx.doi.org/10.3109/13816810.2014.921315DOI Listing
September 2016

Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.

Genet Med 2014 Sep 6;16(9):720-4. Epub 2014 Mar 6.

1] Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, CHU de Hautepierre, Strasbourg, France [2] Laboratoire de Génétique Médicale, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France [3] Current affiliation: Service de Génétique, CHU la Réunion, Hôpital Félix Guyon, Saint-Denis, France.

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http://dx.doi.org/10.1038/gim.2014.12DOI Listing
September 2014

BAP1 germline mutation in two first grade family members with uveal melanoma.

Br J Ophthalmol 2014 Feb 1;98(2):224-7. Epub 2013 Nov 1.

Department of Ophthalmology, University of Regensburg, Germany.

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http://dx.doi.org/10.1136/bjophthalmol-2013-303814DOI Listing
February 2014

Sporadic unilateral retinoblastoma or first sign of bilateral disease?

Br J Ophthalmol 2013 Apr 26;97(4):475-80. Epub 2013 Jan 26.

Department of Paediatric Haematology and Oncology, University Hospital Essen, Hufelandstrasse 55, Essen 45122, Germany.

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http://dx.doi.org/10.1136/bjophthalmol-2012-302666DOI Listing
April 2013

Retinoblastoma tumorigenesis: genetic and epigenetic changes walk hand in hand.

Future Oncol 2012 May;8(5):525-8

Eye Oncogenetics Research Group, Department of Human Genetics, Essen, Germany.

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http://dx.doi.org/10.2217/fon.12.41DOI Listing
May 2012

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.

BMC Cancer 2011 Aug 26;11:380. Epub 2011 Aug 26.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr, 55, 45157 Essen, Germany.

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http://dx.doi.org/10.1186/1471-2407-11-380DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3175225PMC
August 2011

Loss at chromosome arm 16q in retinoblastoma: confirmation of the association with diffuse vitreous seeding and refinement of the recurrently deleted region.

Genes Chromosomes Cancer 2011 May 8;50(5):327-37. Epub 2011 Feb 8.

Department of Neuroanatomy, Institute for Anatomy, University of Duisburg-Essen, Hufelandstrasse 55, Essen D-45122, Germany.

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http://dx.doi.org/10.1002/gcc.20857DOI Listing
May 2011

Identification of a mutation in exon 27 of the RB1 gene associated with incomplete penetrance retinoblastoma.

Fam Cancer 2009 29;8(1):55-8. Epub 2008 May 29.

Institut für Humangenetik, Universitätsklinikum Essen, Hufelandstr. 55, Essen, 45122, Germany.

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http://dx.doi.org/10.1007/s10689-008-9198-4DOI Listing
April 2009

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression.

Hum Mutat 2008 Apr;29(4):475-84

Retinoblastoma Solutions, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.20664DOI Listing
April 2008

Neurotrophin receptor expression in human primary retinoblastomas and retinoblastoma cell lines.

Pediatr Blood Cancer 2008 Feb;50(2):218-22

Department of Pediatric Hematology, Oncology and Endocrinology, University Hospital of Essen, Essen, Germany.

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http://dx.doi.org/10.1002/pbc.21369DOI Listing
February 2008

Allelic loss in a minimal region on chromosome 16q24 is associated with vitreous seeding of retinoblastoma.

Cancer Res 2007 Jan;67(1):408-16

Institut für Humangenetik, Institut für Zellbiologie, and Augenklinik, Universitätsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://dx.doi.org/10.1158/0008-5472.CAN-06-1317DOI Listing
January 2007

Establishment and characterization of two uveal melanoma cell lines derived from tumors with loss of one chromosome 3.

Exp Eye Res 2006 Oct 5;83(4):858-64. Epub 2006 Jun 5.

Department of Ophthalmology, University of Duisburg-Essen, Augenklinik, Universitaetsklinikum Essen, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://dx.doi.org/10.1016/j.exer.2006.04.004DOI Listing
October 2006

Loss of heterozygosity of 1p in uveal melanomas with monosomy 3.

Int J Cancer 2005 Oct;116(6):909-13

Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.

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http://doi.wiley.com/10.1002/ijc.21086
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http://dx.doi.org/10.1002/ijc.21086DOI Listing
October 2005

Detection of chromosomal imbalances in retinoblastoma by matrix-based comparative genomic hybridization.

Genes Chromosomes Cancer 2005 Jul;43(3):294-301

German Cancer Research Center, Division of Molecular Genetics, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/gcc.20186
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http://dx.doi.org/10.1002/gcc.20186DOI Listing
July 2005

Retinoblastoma: revisiting the model prototype of inherited cancer.

Am J Med Genet C Semin Med Genet 2004 Aug;129C(1):23-8

Institut für Humangenetik, Hufelandstrasse 55, D-45122 Essen, Germany.

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http://doi.wiley.com/10.1002/ajmg.c.30024
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http://dx.doi.org/10.1002/ajmg.c.30024DOI Listing
August 2004

A parent-of-origin effect in two families with retinoblastoma is associated with a distinct splice mutation in the RB1 gene.

Am J Hum Genet 2002 Jul 9;71(1):174-9. Epub 2002 May 9.

Institut für Humangenetik, Universitätsklinikum Essen, Germany.

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http://dx.doi.org/10.1086/341284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384976PMC
July 2002