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Jansen, Anne M L, Tops, Carli M J, Ruano, Dina, van Eijk, Ronald, Wijnen, Juul T, Ten Broeke, Sanne, Nielsen, Maartje, Hes, Frederik J, van Wezel, Tom, Morreau, Hans
Published in European journal of human genetics : EJHG (01.03.2020)
Published in European journal of human genetics : EJHG (01.03.2020)
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Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer
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Published in Breast cancer research and treatment (01.12.2010)
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Infiltration of Lynch Colorectal Cancers by Activated Immune Cells Associates with Early Staging of the Primary Tumor and Absence of Lymph Node Metastases
DE MIRANDA, Noel F. C. C, GOUDKADE, Danny, JORDANOVA, Ekaterina S, TOPS, Carli M. J, HES, Frederik J, VASEN, Hans F. A, VAN WEZEL, Tom, MORREAU, Hans
Published in Clinical cancer research (01.03.2012)
Published in Clinical cancer research (01.03.2012)
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Diagnostic Approach and Management of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A Guide for Clinicians
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Published in CA: a cancer journal for clinicians (01.07.2006)
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
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Published in Familial cancer (01.04.2017)
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CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism
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Published in The journal of clinical endocrinology and metabolism (01.12.2017)
Published in The journal of clinical endocrinology and metabolism (01.12.2017)
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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
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Published in Clinical cancer research (01.01.2008)
Published in Clinical cancer research (01.01.2008)
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Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients
Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom
Published in Familial cancer (01.01.2022)
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Early onset MSI-H colon cancer with MLH1 promoter methylation, is there a genetic predisposition?
van Roon, Eddy H J, van Puijenbroek, Marjo, Middeldorp, Anneke, van Eijk, Ronald, de Meijer, Emile J, Erasmus, Dianhdra, Wouters, Kim A D, van Engeland, Manon, Oosting, Jan, Hes, Frederik J, Tops, Carli M J, van Wezel, Tom, Boer, Judith M, Morreau, Hans
Published in BMC cancer (05.05.2010)
Published in BMC cancer (05.05.2010)
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Colorectal carcinomas in MUTYH-associated polyposis display histopathological similarities to microsatellite unstable carcinomas
Nielsen, Maartje, de Miranda, Noel F C C, van Puijenbroek, Marjo, Jordanova, Ekaterina S, Middeldorp, Anneke, van Wezel, Tom, van Eijk, Ronald, Tops, Carli M J, Vasen, Hans F A, Hes, Frederik J, Morreau, Hans
Published in BMC cancer (15.06.2009)
Published in BMC cancer (15.06.2009)
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Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome
van der Klift, Heleen M., Mensenkamp, Arjen R., Drost, Mark, Bik, Elsa C., Vos, Yvonne J., Gille, Hans J.J.P., Redeker, Bert E.J.W., Tiersma, Yvonne, Zonneveld, José B.M., García, Encarna Gómez, Letteboer, Tom G.W., Olderode-Berends, Maran J.W., van Hest, Liselotte P., van Os, Theo A., Verhoef, Senno, Wagner, Anja, van Asperen, Christi J., ten Broeke, Sanne W., Hes, Frederik J., de Wind, Niels, Nielsen, Maartje, Devilee, Peter, Ligtenberg, Marjolijn J.L., Wijnen, Juul T., Tops, Carli M.J.
Published in Human mutation (01.11.2016)
Published in Human mutation (01.11.2016)
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Recurrence and variability of germline EPCAM deletions in Lynch syndrome
Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, J. Han J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, Ligtenberg, Marjolijn J.L.
Published in Human mutation (01.04.2011)
Published in Human mutation (01.04.2011)
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Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
Herkert, Johanna C, Niessen, Renée C, Olderode-Berends, Maria J.W, Veenstra-Knol, Hermine E, Vos, Yvonne J, van der Klift, Heleen M, Scheenstra, Rene, Tops, Carli M.J, Karrenbeld, Arend, Peters, Frans T.M, Hofstra, Robert M.W, Kleibeuker, Jan H, Sijmons, Rolf H
Published in European journal of cancer (1990) (01.05.2011)
Published in European journal of cancer (1990) (01.05.2011)
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Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients
Jansen, Anne M L, Geilenkirchen, Marije A, van Wezel, Tom, Jagmohan-Changur, Shantie C, Ruano, Dina, van der Klift, Heleen M, van den Akker, Brendy E W M, Laros, Jeroen F J, van Galen, Michiel, Wagner, Anja, Letteboer, Tom G W, Gómez-García, Encarna B, Tops, Carli M J, Vasen, Hans F, Devilee, Peter, Hes, Frederik J, Morreau, Hans, Wijnen, Juul T
Published in PloS one (01.06.2016)
Published in PloS one (01.06.2016)
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Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas
van Puijenbroek, Marjo, Middeldorp, Anneke, Tops, Carli M. J., van Eijk, Ronald, van der Klift, Heleen M., Vasen, Hans F. A., Wijnen, Juul Th, Hes, Frederik J., Oosting, Jan, van Wezel, Tom, Morreau, Hans
Published in Familial cancer (01.12.2008)
Published in Familial cancer (01.12.2008)
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Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses
Klift, Heleen M., Jansen, Anne M. L., Steenstraten, Niki, Bik, Elsa C., Tops, Carli M. J., Devilee, Peter, Wijnen, Juul T.
Published in Molecular genetics & genomic medicine (01.07.2015)
Published in Molecular genetics & genomic medicine (01.07.2015)
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Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors
Rahner, Nils, Brockschmidt, Felix F., Steinke, Verena, Kahl, Philip, Becker, Tim, Vasen, Hans F. A., Wijnen, Juul T., Tops, Carli J. M., Holinski-Feder, Elke, Ligtenberg, Marjolijn J. L., Spruijt, Liesbeth, Görgens, Heike, Stemmler, Susanne, Kloor, Matthias, Dietmaier, Wolfgang, Schumacher, Johannes, Nöthen, Markus M., Propping, Peter
Published in Familial cancer (01.03.2012)
Published in Familial cancer (01.03.2012)
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Deep sequencing to reveal new variants in pooled DNA samples
Out, Astrid A, van Minderhout, Ivonne J.H.M, Goeman, Jelle J, Ariyurek, Yavuz, Ossowski, Stephan, Schneeberger, Korbinian, Weigel, Detlef, van Galen, Michiel, Taschner, Peter E.M, Tops, Carli M.J, Breuning, Martijn H, van Ommen, Gert-Jan B, den Dunnen, Johan T, Devilee, Peter, Hes, Frederik J
Published in Human mutation (01.12.2009)
Published in Human mutation (01.12.2009)
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High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations
Out, Astrid A., van Minderhout, Ivonne J. H. M., van der Stoep, Nienke, van Bommel, Lysette S. R., Kluijt, Irma, Aalfs, Cora, Voorendt, Marsha, Vossen, Rolf H. A. M., Nielsen, Maartje, Vasen, Hans F. A., Morreau, Hans, Devilee, Peter, Tops, Carli M. J., Hes, Frederik J.
Published in Familial cancer (01.06.2015)
Published in Familial cancer (01.06.2015)
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