Carli M J Tops

Carli M J Tops

UNVERIFIED PROFILE

Are you Carli M J Tops?   Register this Author

Register author
Carli M J Tops

Carli M J Tops

Publications by authors named "Carli M J Tops"

Are you Carli M J Tops?   Register this Author

36Publications

1040Reads

16Profile Views

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material.

Eur J Hum Genet 2019 Oct 15. Epub 2019 Oct 15.

Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0527-xDOI Listing
October 2019

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.

View Article

Download full-text PDF

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

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.

Mol Genet Genomic Med 2015 Jul 23;3(4):327-45. Epub 2015 Apr 23.

Department of Human Genetics, Leiden University Medical Center Leiden, The Netherlands ; Department of Clinical Genetics, Leiden University Medical Center Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mgg3.145
Publisher Site
http://dx.doi.org/10.1002/mgg3.145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521968PMC
July 2015

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Clin Cancer Res 2012 May 27;18(10):2828-37. Epub 2012 Mar 27.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.

View Article

Download full-text PDF

Source
http://clincancerres.aacrjournals.org/content/18/10/2828.ful
Web Search
http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
Publisher Site
http://dx.doi.org/10.1158/1078-0432.CCR-12-0160DOI Listing
May 2012

Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.

Breast Cancer Res Treat 2010 Dec 27;124(3):635-41. Epub 2010 Feb 27.

Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Centre, Be414, Erasmus MC, CA, Rotterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-010-0801-7DOI Listing
December 2010

Introduction to molecular and clinical genetics of colorectal cancer syndromes.

Best Pract Res Clin Gastroenterol 2009 ;23(2):127-46

Centre for Human and Clinical Genetics, LUMC, Leiden, P.O. Box 9600, S06, 2300 RC Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bpg.2009.02.002DOI Listing
July 2009

Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.

Fam Cancer 2008 15;7(4):319-30. Epub 2008 Apr 15.

Department of Pathology, Leiden University Medical Center, Building L1Q, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-008-9194-8DOI Listing
January 2009

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Eur J Hum Genet 2007 Oct 13;15(10):1034-42. Epub 2007 Jun 13.

Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201871DOI Listing
October 2007

The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.

Fam Cancer 2007 ;6(1):43-51

Department of Pathology, Leiden University Medical Center, Building L1Q, P.O. Box 9600, 2300 RC Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-006-9103-yDOI Listing
September 2007

Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians.

CA Cancer J Clin 2006 Jul-Aug;56(4):213-25

Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3322/canjclin.56.4.213DOI Listing
September 2006

MUTYH and the mismatch repair system: partners in crime?

Hum Genet 2006 Mar 12;119(1-2):206-11. Epub 2006 Jan 12.

Department of Medical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-005-0118-5DOI Listing
March 2006