Carli M J Tops

Carli M J Tops

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Carli M J Tops

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

Authors:
Anne M L Jansen Carli M J Tops Dina Ruano Ronald van Eijk Juul T Wijnen Sanne Ten Broeke Maartje Nielsen Frederik J Hes Tom van Wezel Hans Morreau

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

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

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

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Authors:
Sanne W Ten Broeke Mar Rodríguez-Girondo Manon Suerink Stefan Aretz Inge Bernstein Gabriel Capellá Christoph Engel Encarna B Gomez-Garcia Liselot P van Hest Magnus von Knebel Doeberitz Kristina Lagerstedt-Robinson Tom G W Letteboer Pal Moller Theo A van Os Marta Pineda Nils Rahner Maran J W Olderode-Berends Jenny von Salomé Hans K Schackert Liesbeth Spruijt Verena Steinke-Lange Anja Wagner Carli M J Tops Maartje Nielsen

Cancer Epidemiol Biomarkers Prev 2019 Jun 1;28(6):1010-1014. Epub 2019 Mar 1.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1158/1055-9965.EPI-18-0576DOI Listing
June 2019

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.

Authors:
Fadwa A Elsayed Carli M J Tops Maartje Nielsen Dina Ruano Hans F A Vasen Hans Morreau Frederik J Hes Tom van Wezel

Mol Genet Genomic Med 2019 04 2;7(4):e00603. Epub 2019 Mar 2.

Department of Pathology, LUMC, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/mgg3.603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465667PMC
April 2019

SNP association study in PMS2-associated Lynch syndrome.

Authors:
Sanne W Ten Broeke Fadwa A Elsayed Lisa Pagan Maran J W Olderode-Berends Encarna Gomez Garcia Hans J P Gille Liselot P van Hest Tom G W Letteboer Lizet E van der Kolk Arjen R Mensenkamp Theo A van Os Liesbeth Spruijt Bert J W Redeker Manon Suerink Yvonne J Vos Anja Wagner Juul T Wijnen E W Steyerberg Carli M J Tops Tom van Wezel Maartje Nielsen

Fam Cancer 2018 10;17(4):507-515

Department of Clinical Genetics, Leiden University Medical Centre, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10689-017-0061-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182583PMC
October 2018

Cancer Risks for PMS2-Associated Lynch Syndrome.

Authors:
Sanne W Ten Broeke Heleen M van der Klift Carli M J Tops Stefan Aretz Inge Bernstein Daniel D Buchanan Albert de la Chapelle Gabriel Capella Mark Clendenning Christoph Engel Steven Gallinger Encarna Gomez Garcia Jane C Figueiredo Robert Haile Heather L Hampel John L Hopper Nicoline Hoogerbrugge Magnus von Knebel Doeberitz Loic Le Marchand Tom G W Letteboer Mark A Jenkins Annika Lindblom Noralane M Lindor Arjen R Mensenkamp Pål Møller Polly A Newcomb Theo A M van Os Rachel Pearlman Marta Pineda Nils Rahner Egbert J W Redeker Maran J W Olderode-Berends Christophe Rosty Hans K Schackert Rodney Scott Leigha Senter Liesbeth Spruijt Verena Steinke-Lange Manon Suerink Stephen Thibodeau Yvonne J Vos Anja Wagner Ingrid Winship Frederik J Hes Hans F A Vasen Juul T Wijnen Maartje Nielsen Aung Ko Win

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

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

Authors:
Karin van der Tuin Arjen R Mensenkamp Carli M J Tops Eleonora P M Corssmit Winand N Dinjens Anouk N A van de Horst-Schrivers Jeroen C Jansen Mirjam M de Jong Henricus P M Kunst Benno Kusters Edward M Leter Hans Morreau Bernadette M P van Nesselrooij Rogier A Oldenburg Liesbeth Spruijt Frederik J Hes Henri J L M Timmers

J Clin Endocrinol Metab 2018 02;103(2):438-445

Department of Medicine, Division of Endocrinology, Radboud University Medical Center, Nijmegen, the Netherlands.

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https://academic.oup.com/jcem/article/103/2/438/4644817
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http://dx.doi.org/10.1210/jc.2017-01762DOI Listing
February 2018

CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.

Authors:
Karin van der Tuin Carli M J Tops Muriel A Adank Jan-Maarten Cobben Neveen A T Hamdy Marjolijn C Jongmans Fred H Menko Bernadette P M van Nesselrooij Romana T Netea-Maier Jan C Oosterwijk Gerlof D Valk Bruce H R Wolffenbuttel Frederik J Hes Hans Morreau

J Clin Endocrinol Metab 2017 12;102(12):4534-4540

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

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http://dx.doi.org/10.1210/jc.2017-01249DOI Listing
December 2017

The phenotype of germline mutation carriers: a nationwide study.

Authors:
Nicolasine D Niemeijer Johannes A Rijken Karin Eijkelenkamp Anouk N A van der Horst-Schrivers Michiel N Kerstens Carli M J Tops Anouk van Berkel Henri J L M Timmers Henricus P M Kunst C René Leemans Peter H Bisschop Koen M A Dreijerink Marieke F van Dooren Jean-Pierre Bayley Alberto M Pereira Jeroen C Jansen Frederik J Hes Erik F Hensen Eleonora P M Corssmit

Eur J Endocrinol 2017 Aug 10;177(2):115-125. Epub 2017 May 10.

Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, the Netherlands.

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http://dx.doi.org/10.1530/EJE-17-0074DOI Listing
August 2017

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.

Authors:
Anne M L Jansen Marije A Geilenkirchen Tom van Wezel Shantie C Jagmohan-Changur Dina Ruano Heleen M van der Klift Brendy E W M van den Akker Jeroen F J Laros Michiel van Galen Anja Wagner Tom G W Letteboer Encarna B Gómez-García Carli M J Tops Hans F Vasen Peter Devilee Frederik J Hes Hans Morreau Juul T Wijnen

PLoS One 2016 14;11(6):e0157381. Epub 2016 Jun 14.

Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0157381PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907507PMC
July 2017

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.

Authors:
Charlotte J Dommering Lidewij Henneman Annemarie H van der Hout Marianne A Jonker Carli M J Tops Ans M W van den Ouweland Rob B van der Luijt Arjen R Mensenkamp Frans B L Hogervorst Egbert J W Redeker Christine E M de Die-Smulders Annette C Moll Hanne Meijers-Heijboer

Fam Cancer 2017 04;16(2):271-277

Department of Clinical Genetics, VU University Medical Center, PO Box 7057, 1007 MB, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s10689-016-9943-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5357498PMC
April 2017

Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis.

Authors:
Anne M L Jansen Stijn Crobach Willemina R R Geurts-Giele Brendy E W M van den Akker Marina Ventayol Garcia Dina Ruano Maartje Nielsen Carli M J Tops Juul T Wijnen Frederik J Hes Tom van Wezel Winand N M Dinjens Hans Morreau

Gastroenterology 2017 02 2;152(3):546-549.e3. Epub 2016 Nov 2.

Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.10.040DOI Listing
February 2017

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.

Authors:
Heleen M van der Klift Arjen R Mensenkamp Mark Drost Elsa C Bik Yvonne J Vos Hans J J P Gille Bert E J W Redeker Yvonne Tiersma José B M Zonneveld Encarna Gómez García Tom G W Letteboer Maran J W Olderode-Berends Liselotte P van Hest Theo A van Os Senno Verhoef Anja Wagner Christi J van Asperen Sanne W Ten Broeke Frederik J Hes Niels de Wind Maartje Nielsen Peter Devilee Marjolijn J L Ligtenberg Juul T Wijnen Carli M J Tops

Hum Mutat 2016 11 21;37(11):1162-1179. Epub 2016 Aug 21.

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.23052DOI Listing
November 2016

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

Authors:
Heleen M van der Klift Anne M L Jansen Niki van der Steenstraten Elsa C Bik Carli M J Tops Peter Devilee Juul T Wijnen

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.

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

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.

Authors:
Astrid A Out Ivonne J H M van Minderhout Nienke van der Stoep Lysette S R van Bommel Irma Kluijt Cora Aalfs Marsha Voorendt Rolf H A M Vossen Maartje Nielsen Hans F A Vasen Hans Morreau Peter Devilee Carli M J Tops Frederik J Hes

Fam Cancer 2015 Jun;14(2):247-57

Department of Clinical Genetics, Leiden University Medical Center, P.O. Box 9600, 2300 RC, Leiden, The Netherlands.

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http://dx.doi.org/10.1007/s10689-015-9780-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430602PMC
June 2015

MUTYH gene variants and breast cancer in a Dutch case–control study.

Authors:
Astrid A Out Marijke Wasielewski Petra E A Huijts Ivonne J H M van Minderhout Jeanine J Houwing-Duistermaat Carli M J Tops Maartje Nielsen Caroline Seynaeve Juul T Wijnen Martijn H Breuning Christi J van Asperen Mieke Schutte Frederik J Hes Peter Devilee

Breast Cancer Res Treat 2012 Jul;134(1):219-27

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

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http://dx.doi.org/10.1007/s10549-012-1965-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397219PMC
July 2012

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Authors:
Nelly Burnichon Alberto Cascón Francesca Schiavi Nicole Paes Morales Iñaki Comino-Méndez Nasséra Abermil Lucía Inglada-Pérez Aguirre A de Cubas Laurence Amar Marta Barontini Sandra Bernaldo de Quirós Jérôme Bertherat Yves-Jean Bignon Marinus J Blok Sara Bobisse Salud Borrego Maurizio Castellano Philippe Chanson María-Dolores Chiara Eleonora P M Corssmit Mara Giacchè Ronald R de Krijger Tonino Ercolino Xavier Girerd Encarna B Gómez-García Alvaro Gómez-Graña Isabelle Guilhem Frederik J Hes Emiliano Honrado Esther Korpershoek Jacques W M Lenders Rocío Letón Arjen R Mensenkamp Anna Merlo Luigi Mori Arnaud Murat Peggy Pierre Pierre-François Plouin Tamara Prodanov Miguel Quesada-Charneco Nan Qin Elena Rapizzi Victoria Raymond Nicole Reisch Giovanna Roncador Macarena Ruiz-Ferrer Frank Schillo Alexander P A Stegmann Carlos Suarez Elisa Taschin Henri J L M Timmers Carli M J Tops Miguel Urioste Felix Beuschlein Karel Pacak Massimo Mannelli Patricia L M Dahia Giuseppe Opocher Graeme Eisenhofer Anne-Paule Gimenez-Roqueplo Mercedes Robledo

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.

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

Infiltration of Lynch colorectal cancers by activated immune cells associates with early staging of the primary tumor and absence of lymph node metastases.

Authors:
Noel F C C de Miranda Danny Goudkade Ekaterina S Jordanova Carli M J Tops Frederik J Hes Hans F A Vasen Tom van Wezel Hans Morreau

Clin Cancer Res 2012 Mar 18;18(5):1237-45. Epub 2012 Jan 18.

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

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http://clincancerres.aacrjournals.org/lookup/doi/10.1158/107
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http://dx.doi.org/10.1158/1078-0432.CCR-11-1997DOI Listing
March 2012

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Authors:
Johanna C Herkert Renée C Niessen Maria J W Olderode-Berends Hermine E Veenstra-Knol Yvonne J Vos Heleen M van der Klift Rene Scheenstra Carli M J Tops Arend Karrenbeld Frans T M Peters Robert M W Hofstra Jan H Kleibeuker Rolf H Sijmons

Eur J Cancer 2011 May 4;47(7):965-82. Epub 2011 Mar 4.

Department of Genetics, University Medical Center Groningen, University of Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

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http://linkinghub.elsevier.com/retrieve/pii/S095980491100040
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http://dx.doi.org/10.1016/j.ejca.2011.01.013DOI Listing
May 2011

Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

Authors:
Roland P Kuiper Lisenka E L M Vissers Ramprasath Venkatachalam Danielle Bodmer Eveline Hoenselaar Monique Goossens Aline Haufe Eveline Kamping Renée C Niessen Frans B L Hogervorst Johan J P Gille Bert Redeker Carli M J Tops Marielle E van Gijn Ans M W van den Ouweland Nils Rahner Verena Steinke Philip Kahl Elke Holinski-Feder Monika Morak Matthias Kloor Susanne Stemmler Beate Betz Pierre Hutter David J Bunyan Sapna Syngal Julie O Culver Tracy Graham Tsun L Chan Iris D Nagtegaal J Han J M van Krieken Hans K Schackert Nicoline Hoogerbrugge Ad Geurts van Kessel Marjolijn J L Ligtenberg

Hum Mutat 2011 Apr 1;32(4):407-14. Epub 2011 Mar 1.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.21446DOI Listing
April 2011

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

Authors:
Maija R J Kohonen-Corish Finlay Macrae Maurizio Genuardi Stefan Aretz Bharati Bapat Inge T Bernstein John Burn Richard G H Cotton Johan T den Dunnen Thierry Frebourg Marc S Greenblatt Robert Hofstra Elke Holinski-Feder Ilkka Lappalainen Annika Lindblom Donna Maglott Pål Møller Hans Morreau Gabriela Möslein Rolf Sijmons Amanda B Spurdle Sean Tavtigian Carli M J Tops Thomas K Weber Niels de Wind Michael O Woods

Hum Mutat 2011 Apr 8;32(4):491-4. Epub 2011 Mar 8.

Cancer Research Program, Garvan Institute of Medical Research, Sydney, NSW, Australia.

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http://doi.wiley.com/10.1002/humu.21450
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http://dx.doi.org/10.1002/humu.21450DOI Listing
April 2011

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study.

Authors:
Marlies J E Kempers Roland P Kuiper Charlotte W Ockeloen Pierre O Chappuis Pierre Hutter Nils Rahner Hans K Schackert Verena Steinke Elke Holinski-Feder Monika Morak Matthias Kloor Reinhard Büttner Eugene T P Verwiel J Han van Krieken Iris D Nagtegaal Monique Goossens Rachel S van der Post Renée C Niessen Rolf H Sijmons Irma Kluijt Frans B L Hogervorst Edward M Leter Johan J P Gille Cora M Aalfs Egbert J W Redeker Frederik J Hes Carli M J Tops Bernadette P M van Nesselrooij Marielle E van Gijn Encarna B Gómez García Diana M Eccles David J Bunyan Sapna Syngal Elena M Stoffel Julie O Culver Melanie R Palomares Tracy Graham Lea Velsher Janos Papp Edith Oláh Tsun L Chan Suet Y Leung Ad Geurts van Kessel Lambertus A L M Kiemeney Nicoline Hoogerbrugge Marjolijn J L Ligtenberg

Lancet Oncol 2011 Jan 8;12(1):49-55. Epub 2010 Dec 8.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.

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http://dx.doi.org/10.1016/S1470-2045(10)70265-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670774PMC
January 2011

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

Authors:
Marijke Wasielewski Astrid A Out Joyce Vermeulen Maartje Nielsen Ans van den Ouweland Carli M J Tops Juul T Wijnen Hans F A Vasen Marjan M Weiss Jan G M Klijn Peter Devilee Frederik J Hes Mieke Schutte

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.

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

Leiden Open Variation Database of the MUTYH gene.

Authors:
Astrid A Out Carli M J Tops Maartje Nielsen Marjan M Weiss Ivonne J H M van Minderhout Ivo F A C Fokkema Marie-Pierre Buisine Kathleen Claes Chrystelle Colas Riccardo Fodde Florentia Fostira Patrick F Franken Mette Gaustadnes Karl Heinimann Shirley V Hodgson Frans B L Hogervorst Elke Holinski-Feder Kristina Lagerstedt-Robinson Sylviane Olschwang Ans M W van den Ouweland Egbert J W Redeker Rodney J Scott Bruno Vankeirsbilck Rikke Veggerby Grønlund Juul T Wijnen Friedrik P Wikman Stefan Aretz Julian R Sampson Peter Devilee Johan T den Dunnen Frederik J Hes

Hum Mutat 2010 Nov;31(11):1205-15

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

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http://dx.doi.org/10.1002/humu.21343DOI Listing
November 2010

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.

Authors:
Heleen M van der Klift Carli M J Tops Elsa C Bik Merel W Boogaard Anne-Marijke Borgstein Kerstin B M Hansson Margreet G E M Ausems Encarna Gomez Garcia Andrew Green Frederik J Hes Louise Izatt Liselotte P van Hest Angel M Alonso Annette H J T Vriends Anja Wagner Wendy A G van Zelst-Stams Hans F A Vasen Hans Morreau Peter Devilee Juul T Wijnen

Hum Mutat 2010 May;31(5):578-87

Department of Human Genetics, Leiden University Medical Centre, Albinusdreef 2, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/humu.21229DOI Listing
May 2010

Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?

Authors:
Eddy H J van Roon Marjo van Puijenbroek Anneke Middeldorp Ronald van Eijk Emile J de Meijer Dianhdra Erasmus Kim A D Wouters Manon van Engeland Jan Oosting Frederik J Hes Carli M J Tops Tom van Wezel Judith M Boer Hans Morreau

BMC Cancer 2010 May 5;10:180. Epub 2010 May 5.

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

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http://dx.doi.org/10.1186/1471-2407-10-180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2880297PMC
May 2010

Deep sequencing to reveal new variants in pooled DNA samples.

Authors:
Astrid A Out Ivonne J H M van Minderhout Jelle J Goeman Yavuz Ariyurek Stephan Ossowski Korbinian Schneeberger Detlef Weigel Michiel van Galen Peter E M Taschner Carli M J Tops Martijn H Breuning Gert-Jan B van Ommen Johan T den Dunnen Peter Devilee Frederik J Hes

Hum Mutat 2009 Dec;30(12):1703-12

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

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http://dx.doi.org/10.1002/humu.21122DOI Listing
December 2009

Introduction to molecular and clinical genetics of colorectal cancer syndromes.

Authors:
Carli M J Tops Juul Th Wijnen Frederik J Hes

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.

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

Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas.

Authors:
Maartje Nielsen Noel F C C de Miranda Marjo van Puijenbroek Ekaterina S Jordanova Anneke Middeldorp Tom van Wezel Ronald van Eijk Carli M J Tops Hans F A Vasen Frederik J Hes Hans Morreau

BMC Cancer 2009 Jun 15;9:184. Epub 2009 Jun 15.

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

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http://dx.doi.org/10.1186/1471-2407-9-184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706846PMC
June 2009

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

Authors:
Marjo van Puijenbroek Anneke Middeldorp Carli M J Tops Ronald van Eijk Heleen M van der Klift Hans F A Vasen Juul Th Wijnen Frederik J Hes Jan Oosting Tom van Wezel Hans Morreau

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.

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

Identification of patients with (atypical) MUTYH-associated polyposis by KRAS2 c.34G > T prescreening followed by MUTYH hotspot analysis in formalin-fixed paraffin-embedded tissue.

Authors:
Marjo van Puijenbroek Maartje Nielsen Carli M J Tops Hans Halfwerk Hans F A Vasen Marjan M Weiss Tom van Wezel Frederik J Hes Hans Morreau

Clin Cancer Res 2008 Jan;14(1):139-42

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

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http://dx.doi.org/10.1158/1078-0432.CCR-07-1705DOI Listing
January 2008

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

Authors:
Maartje Nielsen Elsa Bik Frederik J Hes Martijn H Breuning Hans F A Vasen Egbert Bakker Carli M J Tops Marjan M Weiss

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.

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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.

Authors:
Marjo van Puijenbroek Maartje Nielsen Tjitske H C M Reinards Marjan M Weiss Anja Wagner Yvonne M C Hendriks Hans F A Vasen Carli M J Tops Juul Wijnen Tom van Wezel Frederik J Hes Hans Morreau

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.

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

A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.

Authors:
Anneke Middeldorp Shantie Jagmohan-Changur Quinta Helmer Heleen M van der Klift Carli M J Tops Hans F A Vasen Peter Devilee Hans Morreau Jeanine J Houwing-Duistermaat Juul T Wijnen Tom van Wezel

BMC Cancer 2007 Jan 12;7. Epub 2007 Jan 12.

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

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http://bmccancer.biomedcentral.com/articles/10.1186/1471-240
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http://dx.doi.org/10.1186/1471-2407-7-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1784097PMC
January 2007

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

Authors:
Yvonne M C Hendriks Andrea E de Jong Hans Morreau Carli M J Tops Hans F Vasen Juul Th Wijnen Martijn H Breuning Annette H J T Bröcker-Vriends

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

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

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

Long term follow-up of HNPCC gene mutation carriers: compliance with screening and satisfaction with counseling and screening procedures.

Authors:
Anja Wagner Ingrid van Kessel Mieke G Kriege Carli M J Tops Juul Th Wijnen Hans F A Vasen Conny A van der Meer Iris I H van Oostrom Hanne Meijers-Heijboer

Fam Cancer 2005 ;4(4):295-300

Department of Clinical Genetics, Erasmus University Medical Center, Westzeedijk 112-114, AH Rotterdam, 3016, The Netherlands.

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http://link.springer.com/content/pdf/10.1007/s10689-005-0658
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http://link.springer.com/10.1007/s10689-005-0658-9
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http://dx.doi.org/10.1007/s10689-005-0658-9DOI Listing
March 2006

MUTYH and the mismatch repair system: partners in crime?

Authors:
Renée C Niessen Rolf H Sijmons J Ou Sandra G M Olthof Jan Osinga Marjolijn J Ligtenberg Frans B L Hogervorst Marjan M Weiss Carli M J Tops Frederik J Hes Geertruida H de Bock Charles H C M Buys Jan H Kleibeuker Robert M W Hofstra

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.

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