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1

Increased Colorectal Cancer Incidence in Obligate Carriers of Heterozygous Mutations in MUTYH

Natalie Jones, Stefanie Vogt, Maartje Nielsen, Daria Christian, Petra A. Wark, Diana Eccles, Emma Edwards, D. Gareth Evans, Eamonn R. Maher, Hans F. Vasen, Frederik J. Hes, Stefan Aretz, Julian R. Sam

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 279 KB

english, 2009

2

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

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

Journal:

Familial Cancer

Year:

2017

Language:

english

File:

PDF, 1.17 MB

english, 2017

3

Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma

Bayley, Jean Pierre, Bausch, Birke, Rijken, Johannes Adriaan, van Hulsteijn, Leonie Theresia, Jansen, Jeroen C, Ascher, David, Pires, Douglas Eduardo Valente, Hes, Frederik J, Hensen, Erik F, Corssmit

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 2.13 MB

english, 2019

4

Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease

Frederik J. Hes, Kamlesh Madan, I. Shan Rombout-Liem, Karoly Szuhai, Helena Sørensen, Hans Kristian Ploos van Amstel, Egbert Bakker, Theo J. Visser, Johannes W. Smit, Kerstin Hansson

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 109 KB

english, 2009

5

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

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, Lou

Journal:

Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

6

3D MPRAGE evaluation of lesions in the posterior cranial fossa

Frederik Wenz, Thomas Heß, Michael V. Knopp, Gerald Weisser, Stefan Blüml, Lothar R. Schad, Hans Hawighorst, Gerhard van Kaick

Journal:

Magnetic Resonance Imaging

Year:

1994

Language:

english

File:

PDF, 2.38 MB

english, 1994

7

Age dependency of the regional cerebral blood volume (rCBV) measured with dynamic susceptibility contrast MR imaging (DSC)

Frederik Wenz, Katrin Rempp, Gunnar Brix, Michael V. Knopp, Friedemann Gückel, Thomas Heß, Gerhard van Kaick

Journal:

Magnetic Resonance Imaging

Year:

1996

Language:

english

File:

PDF, 561 KB

english, 1996

8

Introduction to molecular and clinical genetics of colorectal cancer syndromes

Carli M.J. Tops, Juul Th. Wijnen, Frederik J. Hes

Journal:

Best Practice & Research Clinical Gastroenterology

Year:

2009

Language:

english

File:

PDF, 525 KB

english, 2009

9

MUTYH-associated polyposis (MAP)

Maartje Nielsen, Hans Morreau, Hans F.A. Vasen, Frederik J. Hes

Journal:

Critical Reviews in Oncology/Hematology

Year:

2011

Language:

english

File:

PDF, 462 KB

english, 2011

10

Low penetrance of aSDHBmutation in a large Dutch paraganglioma family

Frederik J Hes, Marjan M Weiss, Sanne A Woortman, Noel F de Miranda, Patrick A van Bunderen, Bert A Bonsing, Marcel PM Stokkel, Hans Morreau, Johannes A Romijn, Jeroen C Jansen, Annette HJT Vriends, J

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 506 KB

english, 2010

11

Cost-utility analysis of genetic screening in families of patients with germlineMUTYHmutations

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

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 613 KB

english, 2007

12

MUTYH-associated polyposis carcinomas frequently lose HLA class I expression—a common event amongst DNA-repair-deficient colorectal cancers

Noel FCC de Miranda, Maartje Nielsen, Dina Pereira, Marjo van Puijenbroek, Hans F Vasen, Frederik J Hes, Tom van Wezel, Hans Morreau

Journal:

The Journal of Pathology

Year:

2009

Language:

english

File:

PDF, 363 KB

english, 2009

13

Where genetics and pathology meet: mulibrey nanism

Frederik J Hes, Hans Morreau

Journal:

The Journal of Pathology

Year:

2009

Language:

english

File:

PDF, 65 KB

english, 2009

14

MUTYHand the mismatch repair system: partners in crime?

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, C

Journal:

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

15

The natural history of a combined defect inMSH6andMUTYHin a HNPCC family

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,

Journal:

Familial Cancer

Year:

2007

Language:

english

File:

PDF, 178 KB

english, 2007

16

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

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

Journal:

Familial Cancer

Year:

2008

Language:

english

File:

PDF, 477 KB

english, 2008

17

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis

Aretz, Stefan, Hes, Frederik J

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 156 KB

english, 2010

18

Global distribution of the most prevalent deletions causing hypotonia–cystinuria syndrome

Martens, Kevin, Heulens, Inge, Meulemans, Sandra, Zaffanello, Marco, Tilstra, David, Hes, Frederik J, Rooman, Raoul, François, Inge, de Zegher, Francis, Jaeken, Jaak

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 225 KB

english, 2007

19

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

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

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 185 KB

english, 2007

20

Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome

Heleen M. van der Klift, Carli M. Tops, Frederik J. Hes, Peter Devilee, Juul T. Wijnen

Journal:

Year:

2012

Language:

english

File:

PDF, 293 KB

english, 2012

21

Early onset MSI-H colon cancer withMLH1promoter methylation, is there a genetic predisposition?

Eddy HJ van Roon, Marjo van Puijenbroek, Anneke Middeldorp, Ronald van Eijk, Emile J de Meijer, Dianhdra Erasmus, Kim AD Wouters, Manon van Engeland, Jan Oosting, Frederik J Hes, Carli MJ Tops, Tom va

Journal:

Year:

2010

Language:

english

File:

PDF, 792 KB

english, 2010

22

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

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

Journal:

Year:

2009

Language:

english

File:

PDF, 525 KB

english, 2009

23

Genotype-phenotype correlations in families with deletions in the von Hippel-Lindau (VHL) gene

Frederik Hes, Richard Zewald, Ton Peeters, Rolf Sijmons, Thera Links, Joke Verheij, Gert Matthijs, Eric Legius, Geert Mortier, Kors van der Torren, Malou Rosman, Cornelis Lips, Peter Pearson, Rob van

Journal:

Year:

2000

Language:

english

File:

PDF, 272 KB

english, 2000

24

Chromosome 8q23.3 and 11q23.1 Variants Modify Colorectal Cancer Risk in Lynch Syndrome

Juul T. Wijnen, Richard M. Brohet, Ronald van Eijk, Shanty Jagmohan–Changur, Anneke Middeldorp, Carli M. Tops, Mario van Puijenbroek, Margreet G.E.M. Ausems, Encarna Gómez García, Frederik J. Hes, Nic

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 680 KB

english, 2009

25

Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis

Maartje Nielsen, Mirjam C. Joerink - van de Beld, Natalie Jones, Stefanie Vogt, Carli M. Tops, Hans F.A. Vasen, Julian R. Sampson, Stefan Aretz, Frederik J. Hes

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 712 KB

english, 2009

26

Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis

Stefanie Vogt, Natalie Jones, Daria Christian, Christoph Engel, Maartje Nielsen, Astrid Kaufmann, Verena Steinke, Hans F. Vasen, Peter Propping, Julian R. Sampson, Frederik J. Hes, Stefan Aretz

Journal:

Gastroenterology

Year:

2009

Language:

english

File:

PDF, 599 KB

english, 2009

27

Magnetic Resonance Imaging Surveillance Detects Early-Stage Pancreatic Cancer in Carriers of a p16-Leiden Mutation

Hans F.A. Vasen, Martin Wasser, Anneke van Mil, Rob A. Tollenaar, Marja Konstantinovski, Nelleke A. Gruis, Wilma Bergman, Frederik J. Hes, Daniel W. Hommes, G. Johan A. Offerhaus, Hans Morreau, Bert A

Journal:

Gastroenterology

Year:

2011

Language:

english

File:

PDF, 830 KB

english, 2011

28

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

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

Journal:

World Journal of Surgical Oncology

Year:

2012

Language:

english

File:

PDF, 212 KB

english, 2012

29

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

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

Journal:

World Journal of Surgical Oncology

Year:

2007

Language:

english

File:

PDF, 495 KB

english, 2007

30

Lynch syndrome: still not a familiar picture

Journal:

World Journal of Surgical Oncology

Year:

2008

Language:

english

File:

PDF, 641 KB

english, 2008

31

Compliance with periodic surveillance for Von-Hippel-Lindau disease

Lammens, Chantal R M, Aaronson, Neil K, Hes, Frederik J, Links, Thera P, Zonnenberg, Bernard A, Lenders, Jacques W M, Majoor-Krakauer, Danielle, Van Os, Theo A M, Gomez-Garcia, Encarna B, de Herder, W

Journal:

Genetics in Medicine

Year:

2011

Language:

english

File:

PDF, 363 KB

english, 2011

32

Loss of ARID1A expression and its relationship with PI3K-Akt pathway alterations, TP53 and microsatellite instability in endometrial cancer

Bosse, Tjalling, ter Haar, Natalja T, Seeber, Laura M, Diest, Paul J v, Hes, Frederik J, Vasen, Hans FA, Nout, Remi A, Creutzberg, Carien L, Morreau, Hans, Smit, Vincent THBM

Journal:

Modern Pathology

Year:

2013

Language:

english

File:

PDF, 741 KB

english, 2013

33

Cancer risk and genotype–phenotype correlations inPTENhamartoma tumor syndrome

Nieuwenhuis, Marry H., Kets, C. Marleen, Murphy-Ryan, Maureen, Yntema, Helger G., Evans, D. Gareth, Colas, Chrystelle, Møller, Pal, Hes, Frederik J., Hodgson, Shirley V., Olderode-Berends, Maran J. W.

Journal:

Familial Cancer

Year:

2014

Language:

english

File:

PDF, 273 KB

english, 2014

34

Kanker in de familie: wanneer is genetisch onderzoek geïndiceerd?

Thomas Potjer,dr. Frederik Hes,prof.dr. Christi van Asperen

Journal:

Huisarts en wetenschap

Year:

2013

Language:

dutch

File:

PDF, 615 KB

dutch, 2013

35

Phenotype ofSDHBmutation carriers in the Netherlands

van Hulsteijn, Leonie T., Niemeijer, Nienke D., Hes, Frederik J., Bayley, Jean-Pierre, Tops, Carli M., Jansen, Jeroen C., Corssmit, Eleonora P. M.

Journal:

Familial Cancer

Year:

2014

Language:

english

File:

PDF, 199 KB

english, 2014

36

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

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,

Journal:

Hereditary Cancer in Clinical Practice

Year:

2013

Language:

english

File:

PDF, 809 KB

english, 2013

37

High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations

Heesterman, Berdine L, Bayley, Jean Pierre, Tops, Carli M, Hes, Frederik J, van Brussel, Bernadette T J, Corssmit, Eleonora P M, Hamming, Jaap F, van der Mey, Andel G L, Jansen, Jeroen C

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 118 KB

english, 2013

38

No evidence for increased mortality in SDHD variant carriers compared with the general population

van Hulsteijn, Leonie T, Heesterman, Berdine, Jansen, Jeroen C, Bayley, Jean-Pierre, Hes, Frederik J, Corssmit, Eleonora P M, Dekkers, Olaf M

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 328 KB

english, 2015

39

Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

Aretz, Stefan, Genuardi, Maurizio, Hes, Frederik J

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 185 KB

english, 2013

40

Association of the M1V PRKAR1A Mutation with Primary Pigmented Nodular Adrenocortical Disease in Two Large Families

Pereira, Alberto M., Hes, Frederik J., Horvath, Anelia, Woortman, Sanne, Greene, Elizabeth, Bimpaki, Eirini, Alatsatianos, Anton, Boikos, Sosipatros, Smit, Johannes W., Romijn, Johannes A., Nesterova,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 116 KB

english, 2010

41

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum

Niemeijer, Nicolasine D., Papathomas, Thomas G., Korpershoek, Esther, de Krijger, Ronald R., Oudijk, Lindsey, Morreau, Hans, Bayley, Jean-Pierre, Hes, Frederik J., Jansen, Jeroen C., Dinjens, Winand N

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 963 KB

english, 2015

42

Normal Life Expectancy for Paraganglioma Patients: A 50-Year-Old Cohort Revisited

de Flines, Jeanette, Jansen, Jeroen, Elders, Reinier, Siemers, Maaike, Vriends, Annette, Hes, Frederik, Bayley, Jean-Pierre, van der Mey, Andel, Corssmit, Eleonora

Journal:

Year:

2011

Language:

english

File:

PDF, 89 KB

english, 2011

43

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry

Bausch, Birke, Wellner, Ulrich, Peyre, Mathieu, Boedeker, Carsten C., Hes, Frederik J., Anglani, Mariagiulia, de Campos, Jose M., Kanno, Hiroshi, Maher, Eamonn R., Krauss, Tobias, Sansó, Gabriela, Bar

Journal:

Year:

2016

Language:

english

File:

PDF, 231 KB

english, 2016

44

Measurement of head and neck paragangliomas: is volumetric analysis worth the effort?

Heesterman, Berdine L, Verbist, Berit M, van der Mey, Andel G L, Bayley, Jean-Pierre, Corssmit, Eleonora P M, Hes, Frederik J, Jansen, Jeroen C

Journal:

Clinical Otolaryngology (Blackwell)

Year:

2015

Language:

english

File:

PDF, 484 KB

english, 2015

45

Parent-of-origin tumorigenesis is mediated by an essential imprinted modifier in SDHD -linked paragangliomas: SLC22A18 and CDKN1C are candidate tumor modifiers

Hoekstra, Attje S, Addie, Ruben D, Ras, Cor, Seifar, Reza M, Ruivenkamp, Claudia A, Briaire-de Bruijn, Inge H, Hes, Frederik J, Jansen, Jeroen C, Corssmit, Eleonora PM, Corver, Willem E, Morreau, Hans

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 1.36 MB

english, 2016

46

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

Jansen, Anne M.L., Crobach, Stijn, Geurts-Giele, Willemina R.R., van den Akker, Brendy E.W.M., Garcia, Marina Ventayol, Ruano, Dina, Nielsen, Maartje, Tops, Carli M.J., Wijnen, Juul T., Hes, Frederik

Journal:

Gastroenterology

Year:

2016

Language:

english

File:

PDF, 1.43 MB

english, 2016

47

Von Hippel-Lindau Disease

Frederik J Hes,Jo WM Höppener…

Journal:

Hereditary Cancer in Clinical Practice

Year:

2005

Language:

english

File:

PDF, 401 KB

english, 2005

48

Age and Tumor Volume Predict Growth of Carotid and Vagal Body Paragangliomas

Heesterman, Berdine, de Pont, Lisa, Verbist, Berit, van der Mey, Andel, Corssmit, Eleonora, Hes, Frederik, van Benthem, Peter, Jansen, Jeroen

Journal:

Journal of Neurological Surgery Part B Skull Base

Year:

2017

Language:

english

File:

PDF, 394 KB

english, 2017

49

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

Jansen, Anne ML, van der Klift, Heleen M, Roos, Marieke AE, van Eendenburg, Jaap DH, Tops, Carli MJ, Wijnen, Juul T, Hes, Frederik J, Morreau, Hans, van Wezel, Tom

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 815 KB

english, 2018

50

Clinical progression and metachronous paragangliomas in a large cohort of SDHD germline variant carriers

Heesterman, Berdine L, de Pont, Lisa M H, van der Mey, Andel GL, Bayley, Jean-Pierre, Corssmit, Eleonora PM, Hes, Frederik J, Verbist, Berit M, van Benthem, Peter Paul G, Jansen, Jeroen C

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 758 KB

english, 2018