Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis

por Haimov, Diana, Lieberman, Sari, Castellvi-Bel, Sergi, Nielsen, Maartje, Goldberg, Yael
Publicado 2022

Cost-utility analysis of genetic screening in families of patients with germline MUTYH mutations

por Nielsen, Maartje, Hes, Frederik J, Vasen, Hans FA, van den Hout, Wilbert B
Publicado 2007

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

por Goldberg, Yael, Aleme, Ola, Peled-Perets, Lilach, Castellvi-Bel, Sergi, Nielsen, Maartje, Shalev, Stavit A.
Publicado 2021

Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients

por Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom
Publicado 2021

Molecular functions of MCM8 and MCM9 and their associated pathologies

por Helderman, Noah Cornelis, Terlouw, Diantha, Bonjoch, Laia, Golubicki, Mariano, Antelo, Marina, Morreau, Hans, van Wezel, Tom, Castellví-Bel, Sergi, Goldberg, Yael, Nielsen, Maartje
Publicado 2023

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

por Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Ruano, Dina, Vasen, Hans F. A., Morreau, Hans, J. Hes, Frederik, van Wezel, Tom
Publicado 2019

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

por Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Hanson, Helen
Publicado 2023

Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas

por Suerink, Manon, Kilinç, Gül, Terlouw, Diantha, Hristova, Hristina, Sensuk, Lily, van Egmond, Demi, Farina Sarasqueta, Arantza, Langers, Alexandra M J, van Wezel, Tom, Morreau, Hans, Nielsen, Maartje
Publicado 2021

Excluding Lynch syndrome in a female patient with metachronous DNA mismatch repair deficient colon- and ovarian cancer

por Crobach, Stijn, Jansen, Anne M. L., Ligtenberg, Marjolein J. L., Koopmans, Marije, Nielsen, Maartje, Hes, Frederik J., Wijnen, Juul T., Dinjens, Winand N. M., van Wezel, Tom, Morreau, Hans
Publicado 2017

Digenic inheritance of MSH6 and MUTYH variants in familial colorectal cancer

por Schubert, Stephanie A., Ruano, Dina, Tiersma, Yvonne, Drost, Mark, de Wind, Niels, Nielsen, Maartje, van Hest, Liselotte P., Morreau, Hans, de Miranda, Noel F. C. C., van Wezel, Tom
Publicado 2020

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

por Nielsen, Maartje, de Miranda, Noel FCC, van Puijenbroek, Marjo, Jordanova, Ekaterina S, Middeldorp, Anneke, van Wezel, Tom, van Eijk, Ronald, Tops, Carli MJ, Vasen, Hans FA, Hes, Frederik J, Morreau, Hans
Publicado 2009

PMS2-associated Lynch syndrome: Past, present and future

por Andini, Katarina D., Nielsen, Maartje, Suerink, Manon, Helderman, Noah C., Koornstra, Jan Jacob, Ahadova, Aysel, Kloor, Matthias, Mourits, Marian J.E., Kok, Klaas, Sijmons, Rolf H., Bajwa–ten Broeke, Sanne W.
Publicado 2023

Survival of MUTYH-Associated Polyposis Patients With Colorectal Cancer and Matched Control Colorectal Cancer Patients

por Nielsen, Maartje, van Steenbergen, Liza N., Jones, Natalie, Vogt, Stefanie, Vasen, Hans F. A., Morreau, Hans, Aretz, Stefan, Sampson, Julian R., Dekkers, Olaf M., Janssen-Heijnen, Maryska L. G., Hes, Frederik J.
Publicado 2010

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

por James, Victoria M., Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L., Nielsen, Maartje, Cowan, Frances M., Vujic, Mihailo, Thomas, Rhys H., Rees, Mark I., Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W., Harvey, Robert J.
Publicado 2013

Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair

por Sherwood, Kitty, Ward, Joseph C., Soriano, Ignacio, Martin, Lynn, Campbell, Archie, Rahbari, Raheleh, Kafetzopoulos, Ioannis, Sproul, Duncan, Green, Andrew, Sampson, Julian R., Donaldson, Alan, Ong, Kai-Ren, Heinimann, Karl, Nielsen, Maartje, Thomas, Huw, Latchford, Andrew, Palles, Claire, Tomlinson, Ian
Publicado 2023

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

por Out, Astrid A., Wasielewski, Marijke, Huijts, Petra E. A., van Minderhout, Ivonne J. H. M., Houwing-Duistermaat, Jeanine J., Tops, Carli M. J., Nielsen, Maartje, Seynaeve, Caroline, Wijnen, Juul T., Breuning, Martijn H., van Asperen, Christi J., Schutte, Mieke, Hes, Frederik J., Devilee, Peter
Publicado 2012

Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study

por van Erp, Sanne J. H., Leicher, Laura W., Hennink, Simone D., Ghorbanoghli, Zeinab, Breg, Simone A. C., Morreau, Hans, Nielsen, Maartje, Hardwick, James C. H., Roukema, Jan A., Langers, Alexandra M. J., de Vos tot Nederveen Cappel, Wouter H., Vasen, Hans F. A.
Publicado 2016

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

por 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.
Publicado 2015

Germline biallelic Mcm8 variants are associated with early-onset Lynch-like syndrome

por Golubicki, Mariano, Bonjoch, Laia, Acuña-Ochoa, José G., Díaz-Gay, Marcos, Muñoz, Jenifer, Cuatrecasas, Miriam, Ocaña, Teresa, Iseas, Soledad, Mendez, Guillermo, Cisterna, Daniel, Schubert, Stephanie A., Nielsen, Maartje, van Wezel, Tom, Goldberg, Yael, Pikarsky, Eli, Robbio, Juan, Roca, Enrique, Castells, Antoni, Balaguer, Francesc, Antelo, Marina, Castellví-Bel, Sergi
Publicado 2020