Publications by authors named "Nils Rahner"

55Publications

Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.

Int J Cancer 2020 Nov 14;147(10):2801-2810. Epub 2020 Sep 14.

Department of Applied Tumor Biology, University Hospital Heidelberg, Cooperation Unit Applied Tumor Biology, German Cancer research Center (DKFZ), and Molecular Medicine Partnership Unit (MMPU), University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ijc.33273DOI Listing
November 2020

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2020 Sep;22(9):1569

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-020-0892-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7462742PMC
September 2020

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Genet Med 2020 01 24;22(1):15-25. Epub 2019 Jul 24.

Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

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http://dx.doi.org/10.1038/s41436-019-0596-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371626PMC
January 2020

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Hered Cancer Clin Pract 2019 28;17. Epub 2019 Feb 28.

4Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, part of Oslo University Hospital, Olso, Norway.

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0106-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394091PMC
February 2019

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities.

Geburtshilfe Frauenheilkd 2018 Nov 26;78(11):1089-1109. Epub 2018 Nov 26.

Klinik für Gynäkologie und Geburtshilfe, Universitätsmedizin Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1055/a-0715-2964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6261739PMC
November 2018

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.

Geburtshilfe Frauenheilkd 2018 Oct 19;78(10):949-971. Epub 2018 Oct 19.

Klinik für Gynäkologie und Geburtshilfe, Universitätsmedizin Göttingen, Göttingen, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0713-1218
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http://dx.doi.org/10.1055/a-0713-1218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6195426PMC
October 2018

Cancer Risks for PMS2-Associated Lynch Syndrome.

J Clin Oncol 2018 10 30;36(29):2961-2968. Epub 2018 Aug 30.

Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Manon Suerink, Frederik J. Hes, Hans F.A. Vasen, Juul T. Wijnen, and Maartje Nielsen, Leiden University Medical Center, Leiden; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Tom G.W. Letteboer, University Medical Center, Utrecht; Theo A.M. van Os and Egbert J.W. Redeker, Academic Medical Center, Amsterdam; Maran J.W. Olderode-Berends and Yvonne J. Vos, University of Groningen; University Medical Center Groningen, Groningen; Anja Wagner, Erasmus Medical Center, Rotterdam, the Netherlands; Stefan Aretz, University of Bonn; University Hospital Bonn, Bonn; Christoph Engel, Leipzig University; Medizinisch Genetisches Zentrum Bayerstr, Leipzig; Magnus von Knebel Doeberitz, University of Heidelberg; German Cancer Research Center, Heidelberg; Pål Møller, University of Witten-Herdecke, Wuppertal; Nils Rahner, Heinrich-Heine-University, Düsseldorf; Hans K. Schackert, Technische Universität Dresden, Dresden; Verena Steinke-Lange, Medizinische Klinik und Poliklinik IV Campus Innenstadt, Klinikum der Universität München, Munich, Germany; Pål Møller, The Norwegian Radium Hospital; Oslo University Hospital, Oslo, Norway; Inge Bernstein, Hvidovre Hospital, Hvidovre, and Aalborg University Hospital, Aalborg, Denmark; Daniel D. Buchanan, Mark Clendenning, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Ingrid Winship, and Aung Ko Win, The University of Melbourne; Daniel D. Buchanan, Ingrid Winship, and Aung Ko Win, Royal Melbourne Hospital, Parkville, Melbourne, Victoria; Rodney Scott, University of Newcastle, Newcastle, New South Wales, Australia; Albert de la Chapelle, Heather L. Hampel, Rachel Pearlman, and Leigha Senter, The Ohio State University Comprehensive Cancer Center, Columbus, OH; Gabriel Capella and Marta Pineda, Institut d'Investigació Biomédica de Bellvitge, Barcelona, Spain; Steven Gallinger, Mount Sinai Hospital, Toronto, Ontario, Canada; Jane C. Figueiredo and Robert Haile, Cedars-Sinai Medical Center, Los Angeles, CA; Loic Le Marchand, University of Hawaii Cancer Center, Honolulu, HI; Annika Lindblom, Karolinska Institutet; Karolinska University Hospital, Stockholm, Sweden; Noralane M. Lindor, Mayo Clinic Arizona, Scottsdale, AZ; Polly A. Newcomb, Fred Hutchinson Cancer Research Center; University of Washington, Seattle, WA; and Stephen Thibodeau, Mayo Clinic, Rochester, MN.

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http://ascopubs.org/doi/10.1200/JCO.2018.78.4777
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http://dx.doi.org/10.1200/JCO.2018.78.4777DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349460PMC
October 2018

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

J Pediatr 2017 08 19;187:206-212.e1. Epub 2017 May 19.

Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.04.018DOI 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.

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

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.

J Clin Oncol 2015 Feb 15;33(4):319-25. Epub 2014 Dec 15.

Sanne W. ten Broeke, Carli M. Tops, Heleen M. van der Klift, Manon Suerink, Frederik J. Hes, Hans F. Vasen, Maartje Nielsen, and Juul T. Wijnen, Leiden University Medical Center; Hans F. Vasen, The Netherlands Foundation for the Detection of Hereditary Tumors, Leiden; Richard M. Brohet, Research Center Linnaeus Institute, Spaarne Hospital, Hoofddorp; Mary E. Velthuizen and Tom G.W. Letteboer, University Medical Center Utrecht, Utrecht; Encarna Gomez Garcia, Maastricht University Medical Center, Maastricht; Nicoline Hoogerbrugge, Arjen R. Mensenkamp, and Liesbeth Spruijt, Radboud University Medical Center, Nijmegen; Fred H. Menko, Vrije Universiteit, University Medical Center; Theo A. van Os and Bert J.W. Redeker, Academic Medical Center, Amsterdam; Rolf H. Sijmons and Yvonne J. Vos, University of Groningen, University Medical Center Groningen, Groningen; Anja Wagner, Erasmus University Medical Center, Rotterdam, the Netherlands; Inge Bernstein, Aalborg University Hospital, Aalborg; Inge Bernstein, Danish Hereditary Nonpolyposis Colorectal Cancer Registry, Hvidovre University Hospital Copenhagen, Denmark; Gabriel Capellá Munar, Hereditary Cancer Program, Catalan Institute of Oncology-Institut D'Investigació Biomèdica de Bellvitge, l'Hospitalet de Llobregat, Spain; Annika Lindblom, Karolinska Institutet, Karolinska University Hospital, Solna; Pal Moller, Research Group Inherited Cancer, Oslo University Hospital, Oslo, Norway; and Nils Rahner, Institute of Human Genetics, University of Dusseldorf, Dusseldorf, Germany.

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http://dx.doi.org/10.1200/JCO.2014.57.8088DOI Listing
February 2015

Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.

J Pediatr Orthop 2015 Jan;35(1):e1-5

*Department of Orthopedic Surgery †Institute of Human Genetics, Universitätsklinikum Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1097/BPO.0000000000000330DOI Listing
January 2015

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) - update 2012.

Eur J Hum Genet 2013 Jan 15;21(1). Epub 2012 Aug 15.

Medical Faculty, Institute of Human Genetics, University of Dusseldorf, Dusseldorf, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533316PMC
January 2013

Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2).

Eur J Hum Genet 2010 Sep 27;18(9). Epub 2010 Jan 27.

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

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http://dx.doi.org/10.1038/ejhg.2009.232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987434PMC
September 2010

Hereditary cancer syndromes.

Dtsch Arztebl Int 2008 Oct 10;105(41):706-14. Epub 2008 Oct 10.

Institut für Humangenetik, Uniniversitätsklinikum Bonn.

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http://dx.doi.org/10.3238/arztebl.2008.0706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2696972PMC
October 2008

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Hum Mutat 2007 Oct;28(10):985-92

Institute of Human Genetics, University Hospital of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1002/humu.20549DOI Listing
October 2007

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Hum Genet 2006 Mar 8;119(1-2):9-22. Epub 2005 Dec 8.

Institute of Human Genetics, University of Bonn, Wilhelmstrasse 31, 53111 Bonn, Germany.

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http://dx.doi.org/10.1007/s00439-005-0107-8DOI Listing
March 2006

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease.

Brain Res 2002 Sep;951(1):82-6

Department of Medical Genetics, Children's Hospital, University Rostock, Rembrandt Strasse 16/17, 18055, Rostock, Germany.

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http://dx.doi.org/10.1016/s0006-8993(02)03138-4DOI Listing
September 2002