Publications by authors named "Brigitte Royer-Pokora"

67Publications

WT1-Mutant Wilms Tumor Progression Is Associated With Diverting Clonal Mutations of CTNNB1.

J Pediatr Hematol Oncol 2019 Dec 23. Epub 2019 Dec 23.

Institute of Human Genetics, Heinrich-Heine University, Düsseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPH.0000000000001697DOI Listing
December 2019

Comparative performance analysis of human iPSC-derived and primary neural progenitor cells (NPC) grown as neurospheres in vitro.

Stem Cell Res 2017 12 26;25:72-82. Epub 2017 Oct 26.

IUF-Leibniz Research Institute for Environmental Medicine, Duesseldorf, Germany; Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.scr.2017.10.013DOI Listing
December 2017

Reduction of the tumorigenic potential of human retinoblastoma cell lines by TFF1 overexpression involves p53/caspase signaling and miR-18a regulation.

Int J Cancer 2017 08 19;141(3):549-560. Epub 2017 May 19.

Department of Neuroanatomy, Medical Faculty, Institute of Anatomy II, University of Duisburg-Essen, Essen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.30768DOI Listing
August 2017

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.

Ophthalmic Genet 2016 09 11;37(3):294-300. Epub 2016 Feb 11.

a Medical Faculty, Institute of Human Genetics and Anthropology, Heinrich-Heine University , Düsseldorf , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3109/13816810.2015.1071408DOI Listing
September 2016

A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer.

Int J Cancer 2014 Feb 29;134(4):939-47. Epub 2013 Aug 29.

Queen Mary University of London, Centre for Cancer Prevention, Wolfson Institute of Preventive Medicine, Charterhouse Square, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ijc.28397DOI Listing
February 2014

A novel inverted 17p13.3 microduplication disrupting PAFAH1B1 (LIS1) in a girl with syndromic lissencephaly.

Am J Med Genet A 2013 Jun 30;161A(6):1453-8. Epub 2013 Apr 30.

Institute of Human Genetics and Anthropology, Department of Diagnostic and Interventional Radiology, Heinrich-Heine-University Duesseldorf, Medical Faculty, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35904DOI Listing
June 2013

Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patients.

Am J Med Genet A 2013 May 13;161A(5):958-64. Epub 2013 Mar 13.

Institute of Human Genetics and Anthropology, Medical Faculty, Heinrich-Heine-University of Duesseldorf, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35818DOI Listing
May 2013

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Hum Mutat 2012 Dec 13;33(12):1617-25. Epub 2012 Aug 13.

Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/humu.22168
Publisher Site
http://dx.doi.org/10.1002/humu.22168DOI Listing
December 2012

Genetics of pediatric renal tumors.

Pediatr Nephrol 2013 Jan 30;28(1):13-23. Epub 2012 Mar 30.

Institute for Human Genetics and Anthropology, Medical Faculty, Heinrich-Heine-University, Moorenstrasse 5, 40225 Düsseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00467-012-2146-4DOI Listing
January 2013

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

J Med Genet 2011 Aug 28;48(8):513-9. Epub 2011 Jun 28.

Medical Department, Campus Innenstadt, Klinikum der Universität, Munich, Germany; MGZ-Center of Medical Genetics, Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2011-100050DOI Listing
August 2011

Wilms tumors arising at young age: a genetic basis to distinguish subgroups for individualized therapy.

J Clin Oncol 2011 Jun 25;29(16):e485-6; author reply e487-8. Epub 2011 Apr 25.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.2011.34.9209DOI Listing
June 2011

Heterogeneity of mitochondrial energy metabolism in classical triphasic Wilms' tumor.

Front Biosci (Elite Ed) 2011 Jan 1;3:187-93. Epub 2011 Jan 1.

Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2741/e232DOI Listing
January 2011

Spontaneous in vitro transformation of primary human osteoblast-like cells.

Cancer Genomics Proteomics 2010 Mar-Apr;7(2):61-6

Department of Orthopedic Surgery, Klinikum rechts der Isar, Technische Universitaet Muenchen, D-81675 Muenchen, Germany.

View Article

Download full-text PDF

Source
June 2010

Wilms tumor cells with WT1 mutations have characteristic features of mesenchymal stem cells and express molecular markers of paraxial mesoderm.

Hum Mol Genet 2010 May 27;19(9):1651-68. Epub 2010 Jan 27.

Institute of Human Genetics and Anthropology, Heinrich-Heine University, Düsseldorf D-40225, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq042DOI Listing
May 2010

Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.

J Cancer Res Clin Oncol 2010 Jan;136(1):123-34

Institut fuer Humangenetik, Universitaetsklinikum Duesseldorf, Universitaetsstrasse 1, 40225 Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00432-009-0643-zDOI Listing
January 2010

Therapy adapted to molecular response in patients with chronic myelogenous leukaemia in first chronic phase: results of the Duesseldorf study.

Hematol Oncol 2008 Dec;26(4):213-8

Department of Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Duesseldorf, Moorenstr. Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/hon.860DOI Listing
December 2008

Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?

Genet Test 2008 Mar;12(1):129-33

Institute of Human Genetics, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/gte.2007.0070
Publisher Site
http://dx.doi.org/10.1089/gte.2007.0070DOI Listing
March 2008

Clinical outcome and genotype in patients with hereditary multiple exostoses.

J Orthop Res 2007 Dec;25(12):1541-51

Department of Orthopaedics, Heinrich-Heine University Hospital Duesseldorf, Moorenstr. 5, D-40225 Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jor.20479DOI Listing
December 2007

Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia.

Cancer Genet Cytogenet 2006 May;167(1):66-9

Institute of Human Genetics and Anthropology, Heinrich-Heine University, Düsseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergencyto.2005.08.003DOI Listing
May 2006

Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia.

Cancer Genet Cytogenet 2006 Feb;165(1):51-63

Institute of Human Genetics and Anthropology, Heinrich-Heine University, Universitätsstrasse 1, 40225 Düsseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cancergencyto.2005.09.007DOI Listing
February 2006

A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.

Nephrol Dial Transplant 2006 Feb 22;21(2):518-21. Epub 2005 Nov 22.

Institute of Human Genetics, Heinrich-Heine University Düsseldorf , Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ndt/gfi285DOI Listing
February 2006

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):541

University of Duesseldorf, Institute of Human Genetics, Germany.

View Article

Download full-text PDF

Source
May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):540

University of Duesseldorf, Institute of Human Genetics, Germany.

View Article

Download full-text PDF

Source
May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):540

University of Duesseldorf, Institute of Human Genetics, Germany.

View Article

Download full-text PDF

Source
May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):540

University of Duesseldorf, Institute of Human Genetics, Germany.

View Article

Download full-text PDF

Source
May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):537

University of Duesseldorf, Institute of Human Genetics, Germany.

View Article

Download full-text PDF

Source
May 2005

Gene symbol: STK11. Disease: Peutz-Jeghers syndrome.

Hum Genet 2005 May;116(6):533

University of Duesseldorf, Institute of Human Genetics, Germany.

View Article

Download full-text PDF

Source
May 2005

Effective use of high-dose chemotherapy and autologous stem cell rescue for relapsed adult Wilms' tumor and a novel alteration in intron 1 of the WT1 gene.

J Pediatr Hematol Oncol 2004 Dec;26(12):820-3

Department of Hematology and Oncology, Charité University Hospital Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, D-13353 Berlin, Germany.

View Article

Download full-text PDF

Source
December 2004

Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.

Am J Med Genet A 2004 Jun;127A(3):249-57

Institute of Human Genetics and Anthropology, University Hospital, Heinrich Heine University, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30015
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30015DOI Listing
June 2004

Slow progressive FSGS associated with an F392L WT1 mutation.

Pediatr Nephrol 2004 Mar 27;19(3):353-6. Epub 2004 Jan 27.

Vilnius University Children's Hospital, Vilnius, Lithuania.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00467-003-1372-1
Publisher Site
http://dx.doi.org/10.1007/s00467-003-1372-1DOI Listing
March 2004

Hidden chromosomal aberrations are rare in primary myelodysplastic syndromes with evolution to acute myeloid leukaemia and normal cytogenetics.

Leuk Res 2004 Feb;28(2):171-7

Institute of Human Genetics and Anthropology, Heinrich-Heine University, Universitätsstr. 1, 40225 Düsseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0145-2126(03)00221-2DOI Listing
February 2004

Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotype.

Am J Med Genet A 2003 Dec;123A(3):296-300

Institute of Human Genetics, University of Duesseldorf, Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20339DOI Listing
December 2003

Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISH.

Clin Dysmorphol 2003 Oct;12(4):261-5

Institute of Human Genetics, University of Duesseldorf, POB 101007, 40001 Duesseldorf, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00019605-200310000-00010DOI Listing
October 2003

Two molecular subgroups of Wilms' tumors with or without WT1 mutations.

Clin Cancer Res 2003 Jun;9(6):2005-14

Institute of Human Genetics and Anthropology, University of Düsseldorf, 40225 Düsseldorf, Germany.

View Article

Download full-text PDF

Source
June 2003