Lynch syndrome: still not a familiar picture

por Hes, Frederik J
Publicado 2008

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

Von Hippel-Lindau Disease

por Hes, Frederik J, Höppener, Jo WM, Luijt, Rob B van der, Lips, Cornelis JM
Publicado 2005

Estimating the penetrance of pathogenic gene variants in families with missing pedigree information

por Jonker, Marianne A, Rijken, Johannes A, Hes, Frederik J, Putter, Hein, Hensen, Erik F
Publicado 2018

Case of spontaneous regression of carotid body tumor in a SDHD mutant: a discussion on potential mechanisms based on a review of the literature

por Hammer, Sebastiaan, Jansen, Jeroen C, van der Kleij-Corssmit, Eleonora PM, Hes, Frederik J, Kruit, Mark C
Publicado 2012

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

A patient with bilateral pheochromocytoma as part of a Von Hippel-Lindau (VHL) syndrome type 2C

por Schreinemakers, Jennifer MJ, Zonnenberg, Bernard A, Höppener, Jo WM, Hes, Frederik J, Rinkes, Inne HM Borel, Lips, Cornelis JM
Publicado 2007

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non‐CDKN2A/CDK4 melanoma families

por Potjer, Thomas P., Bollen, Sander, Grimbergen, Anneliese J.E.M., van Doorn, Remco, Gruis, Nelleke A., van Asperen, Christi J., Hes, Frederik J., van der Stoep, Nienke
Publicado 2019

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

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

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

The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients

por Talseth-Palmer, Bente A, Wijnen, Juul T, Andreassen, Eva K, Barker, Daniel, Jagmohan-Changur, Shantie, Tops, Carli M, Meldrum, Cliff, Spigelman, Allan, Hes, Frederik J, Van Wezel, Tom, Vasen, Hans FA, Scott, Rodney J
Publicado 2013

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

por Kobus, Karolina, Hartl, Daniela, Ott, Claus Eric, Osswald, Monika, Huebner, Angela, von der Hagen, Maja, Emmerich, Denise, Kühnisch, Jirko, Morreau, Hans, Hes, Frederik J., Mautner, Victor F., Harder, Anja, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz
Publicado 2015

A novel keratin 13 variant in a four‐generation family with white sponge nevus

por de Haseth, Stephanie B., Bakker, Egbert, Vermeer, Maarten H., el Idrissi, Hakima, Bosse, Tjalling, Smit, Vincent T.H.B.M., Terron‐Kwiatkowski, Anna, McLean, W.H. Irwin, Peters, Alexander A.W., Hes, Frederik J.
Publicado 2017

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers

por Jansen, Anne ML, van Wezel, Tom, van den Akker, Brendy EWM, Ventayol Garcia, Marina, Ruano, Dina, Tops, Carli MJ, Wagner, Anja, Letteboer, Tom GW, Gómez-García, Encarna B, Devilee, Peter, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans
Publicado 2016

Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations

por Bayley, Jean-Pierre, Oldenburg, Rogier A, Nuk, Jennifer, Hoekstra, Attje S, van der Meer, Conny A, Korpershoek, Esther, McGillivray, Barbara, Corssmit, Eleonora PM, Dinjens, Winand NM, de Krijger, Ronald R, Devilee, Peter, Jansen, Jeroen C, Hes, Frederik J
Publicado 2014

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

por van Roon, Eddy HJ, van Puijenbroek, Marjo, Middeldorp, Anneke, van Eijk, Ronald, de Meijer, Emile J, Erasmus, Dianhdra, Wouters, Kim AD, van Engeland, Manon, Oosting, Jan, Hes, Frederik J, Tops, Carli MJ, van Wezel, Tom, Boer, Judith M, Morreau, Hans
Publicado 2010

Low penetrance of a SDHB mutation in a large Dutch paraganglioma family

por Hes, Frederik J, Weiss, Marjan M, Woortman, Sanne A, de Miranda, Noel F, van Bunderen, Patrick A, Bonsing, Bert A, Stokkel, Marcel PM, Morreau, Hans, Romijn, Johannes A, Jansen, Jeroen C, Vriends, Annette HJT, Bayley, Jean-Pierre L, Corssmit, Eleonora PM
Publicado 2010

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

Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A p...

por Blatter, Robert, Tschupp, Benjamin, Aretz, Stefan, Bernstein, Inge, Colas, Chrystelle, Evans, D. Gareth, Genuardi, Maurizio, Hes, Frederik J., Hüneburg, Robert, Järvinen, Heikki, Lalloo, Fiona, Moeslein, Gabriela, Renkonen-Sinisalo, Laura, Resta, Nicoletta, Spier, Isabel, Varvara, Dora, Vasen, Hans, Latchford, Andrew R., Heinimann, Karl
Publicado 2020