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The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
Published in:
Hereditary Cancer in Clinical Practice, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1897-4287-11-20
By:
- 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 F. A.;
- Scott, Rodney J.
Publication type:
Article
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Published in:
Frontiers in Oncology, 2023, p. 01, doi. 10.3389/fonc.2023.1195814
By:
- Akrout, Firas;
- Achour, Ahlem;
- Tops, Carli M. J.;
- Gallon, Richard;
- Meddeb, Rym;
- Achoura, Sameh;
- Rekaya, Mariem Ben;
- Hamdeni, Emna;
- Rammeh, Soumaya;
- Chkili, Ridha;
- Mansouri, Nada;
- Belguith, Neila;
- Mrad, Ridha
Publication type:
Article
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.
Published in:
2017
By:
- van der Tuin, Karin;
- Mensenkamp, Arjen R;
- Tops, Carli M J;
- Corssmit, Eleonora P M;
- Dinjens, Winand N;
- van de Horst-Schrivers, Anouk N;
- Jansen, Jeroen C;
- de Jong, Mirjam M;
- Kunst, Henricus P M;
- Kusters, Benno;
- Leter, Edward M;
- Morreau, Hans;
- van Nesselrooij, Bernadette M P;
- Oldenburg, Rogier A;
- Spruijt, Liesbeth;
- Hes, Frederik J;
- Timmers, Henri J L M;
- van de Horst-Schrivers, Anouk N A
Publication type:
journal article
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
Published in:
2017
By:
- van der Tuin, Karin;
- Tops, Carli M J;
- Adank, Muriel A;
- Cobben, Jan-Maarten;
- Hamdy, Neveen A T;
- Jongmans, Marjolijn C;
- Menko, Fred H;
- van Nesselrooij, Bernadette P M;
- Netea-Maier, Romana T;
- Oosterwijk, Jan C;
- Valk, Gerlof D;
- Wolffenbuttel, Bruce H R;
- Hes, Frederik J;
- Morreau, Hans
Publication type:
journal article
Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome.
Published in:
Genes, Chromosomes & Cancer, 2024, v. 63, n. 5, p. 1, doi. 10.1002/gcc.23237
By:
- van der Werf‐'t Lam, Anne‐Sophie;
- Rodriguez‐Girondo, Mar;
- Villasmil, Mandy;
- Tops, Carli M.;
- van Hest, Liselotte;
- Gille, Hans J. P.;
- Duijkers, Floor A. M.;
- Wagner, Anja;
- Eikenboom, Ellis;
- Letteboer, Tom G. W.;
- de Jong, Mirjam M.;
- Bajwa‐ten Broeke, Sanne W.;
- Bleeker, Fonnet;
- Gomez Garcia, Encarna B.;
- Dominguez‐Valentin, Mev;
- Møller, Pal;
- Suerink, Manon;
- Nielsen, Maartje
Publication type:
Article
MUTYH and the mismatch repair system: partners in crime?
Published in:
Human Genetics, 2006, v. 119, n. 1/2, p. 206, doi. 10.1007/s00439-005-0118-5
By:
- Niessen, Renée;
- Sijmons, Rolf H.;
- Ou, J.;
- Olthof, Sandra G. M.;
- Osinga, Jan;
- Ligtenberg, Marjolijn J.;
- Hogervorst, Frans B. L.;
- Weiss, Marjan M.;
- Tops, Carli M. J.;
- Hes, Frederik J.;
- de Bock, Geertruida H.;
- Buys, Charles H. C.;
- Kleibeuker, Jan H.;
- Hofstra, Robert M. W.
Publication type:
Article
Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers.
Published in:
Cancers, 2021, v. 13, n. 3, p. 459, doi. 10.3390/cancers13030459
By:
- Eikenboom, Ellis L.;
- van Doorn, Helena C.;
- Dinjens, Winand N. M.;
- Dubbink, Hendrikus J.;
- Geurts-Giele, Willemina R. R.;
- Spaander, Manon C. W.;
- Tops, Carli M. J.;
- Wagner, Anja;
- Goverde, Anne;
- Izzo, Paola;
- Duraturo, Francesca
Publication type:
Article
Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1080, doi. 10.1038/ejhg.2014.242
By:
- Elsayed, Fadwa A;
- Kets, C Marleen;
- Ruano, Dina;
- van den Akker, Brendy;
- Mensenkamp, Arjen R;
- Schrumpf, Melanie;
- Nielsen, Maartje;
- Wijnen, Juul T;
- Tops, Carli M;
- Ligtenberg, Marjolijn J;
- Vasen, Hans FA;
- Hes, Frederik J;
- Morreau, Hans;
- van Wezel, Tom
Publication type:
Article
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 4, p. 469, doi. 10.1038/ejhg.2012.203
By:
- 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
Publication type:
Article
Genotype–phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.
Published in:
European Journal of Human Genetics, 2007, v. 15, n. 10, p. 1034, doi. 10.1038/sj.ejhg.5201871
By:
- Nielsen, Maartje;
- Bik, Elsa;
- Hes, Frederik J.;
- Breuning, Martijn H.;
- Vasen, Hans F. A.;
- Bakker, Egbert;
- Tops, Carli M. J.;
- Weiss, Marjan M.
Publication type:
Article
The phenotype of SDHB germline mutation carriers: a nationwide study.
Published in:
European Journal of Endocrinology, 2017, v. 177, n. 2, p. 115, doi. 10.1530/EJE-17-0074
By:
- Niemeijer, Nicolasine D.;
- Rijken, Johannes A.;
- Eijkelenkamp, Karin;
- van der Horst-Schrivers, Anouk N. A.;
- Kerstens, Michiel N.;
- Tops, Carli M. J.;
- van Berkel, Anouk;
- Timmers, Henri J. L. M.;
- Kunst, Henricus P. M.;
- Leemans, C. René;
- Bisschop, Peter H.;
- Dreijerink, Koen M. A.;
- van Dooren, Marieke F.;
- Bayley, Jean-Pierre;
- Pereira, Alberto M.;
- Jansen, Jeroen C.;
- Hes, Frederik J.;
- Hensen, Erik F.;
- Corssmit, Eleonora P. M.
Publication type:
Article
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Published in:
2018
By:
- Schubert, Stephanie A;
- Ruano, Dina;
- Elsayed, Fadwa A;
- Boot, Arnoud;
- Crobach, Stijn;
- Sarasqueta, Arantza Farina;
- Wolffenbuttel, Bruce;
- van der Klauw, Melanie M;
- Oosting, Jan;
- Tops, Carli M;
- van Eijk, Ronald;
- Vasen, Hans FA;
- Vossen, Rolf HAM;
- Nielsen, Maartje;
- Castellví-Bel, Sergi;
- Ruiz-Ponte, Clara;
- Tomlinson, Ian;
- Dunlop, Malcolm G;
- Vodicka, Pavel;
- Wijnen, Juul T
Publication type:
journal article
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Published in:
British Journal of Cancer, 2017, v. 117, n. 8, p. 1215, doi. 10.1038/bjc.2017.240
By:
- Schubert, Stephanie A;
- Ruano, Dina;
- Elsayed, Fadwa A;
- Boot, Arnoud;
- Crobach, Stijn;
- Sarasqueta, Arantza Farina;
- Wolffenbuttel, Bruce;
- van der Klauw, Melanie M;
- Oosting, Jan;
- Tops, Carli M;
- van Eijk, Ronald;
- Vasen, Hans FA;
- Vossen, Rolf HAM;
- Nielsen, Maartje;
- Castellví-Bel, Sergi;
- Ruiz-Ponte, Clara;
- Tomlinson, Ian;
- Dunlop, Malcolm G;
- Vodicka, Pavel;
- Wijnen, Juul T
Publication type:
Article
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Published in:
British Journal of Cancer, 2017, v. 117, n. 6, p. 876, doi. 10.1038/bjc.2017.240
By:
- Schubert, Stephanie A;
- Ruano, Dina;
- Elsayed, Fadwa A;
- Boot, Arnoud;
- Crobach, Stijn;
- Sarasqueta, Arantza Farina;
- Wolffenbuttel, Bruce;
- van der Klauw, Melanie M;
- Oosting, Jan;
- Tops, Carli M;
- van Eijk, Ronald;
- Vasen, Hans FA;
- Vossen, Rolf HAM;
- Nielsen, Maartje;
- Castellví-Bel, Sergi;
- Ruiz-Ponte, Clara;
- Tomlinson, Ian;
- Dunlop, Malcolm G;
- Vodicka, Pavel;
- Wijnen, Juul T
Publication type:
Article
Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.
Published in:
2017
By:
- Schubert, Stephanie A;
- Ruano, Dina;
- Elsayed, Fadwa A;
- Boot, Arnoud;
- Crobach, Stijn;
- Sarasqueta, Arantza Farina;
- Wolffenbuttel, Bruce;
- van der Klauw, Melanie M;
- Oosting, Jan;
- Tops, Carli M;
- van Eijk, Ronald;
- Vasen, Hans Fa;
- Vossen, Rolf Ham;
- Nielsen, Maartje;
- Castellví-Bel, Sergi;
- Ruiz-Ponte, Clara;
- Tomlinson, Ian;
- Dunlop, Malcolm G;
- Vodicka, Pavel;
- Wijnen, Juul T
Publication type:
journal article
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.603
By:
- Elsayed, Fadwa A.;
- Tops, Carli M. J.;
- Nielsen, Maartje;
- Ruano, Dina;
- Vasen, Hans F. A.;
- Morreau, Hans;
- J. Hes, Frederik;
- van Wezel, Tom
Publication type:
Article
Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.
Published in:
Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 4, p. 327, doi. 10.1002/mgg3.145
By:
- Klift, Heleen M.;
- Jansen, Anne M. L.;
- Steenstraten, Niki;
- Bik, Elsa C.;
- Tops, Carli M. J.;
- Devilee, Peter;
- Wijnen, Juul T.
Publication type:
Article
Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.
Published in:
International Journal of Cancer, 2013, v. 132, n. 7, p. 1556, doi. 10.1002/ijc.27843
By:
- Talseth‐Palmer, Bente A.;
- Wijnen, Juul T.;
- Brenne, Ingvild S.;
- Jagmohan‐Changur, Shantie;
- Barker, Daniel;
- Ashton, Katie A.;
- Tops, Carli M.;
- Evans, Tiffany‐Jane;
- McPhillips, Mary;
- Groombridge, Claire;
- Suchy, Janina;
- Kurzawski, Grzegorz;
- Spigelman, Allan;
- Møller, Pål;
- Morreau, Hans M.;
- Van Wezel, Tom;
- Lubinski, Jan;
- Vasen, Hans F.A.;
- Scott, Rodney J.
Publication type:
Article
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157381
By:
- 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.
Publication type:
Article
Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.
Published in:
Familial Cancer, 2022, v. 21, n. 1, p. 79, doi. 10.1007/s10689-021-00236-2
By:
- Elsayed, Fadwa A.;
- Tops, Carli M. J.;
- Nielsen, Maartje;
- Morreau, Hans;
- Hes, Frederik J.;
- van Wezel, Tom
Publication type:
Article
SNP association study in PMS2-associated Lynch syndrome.
Published in:
Familial Cancer, 2018, v. 17, n. 4, p. 507, doi. 10.1007/s10689-017-0061-3
By:
- ten Broeke, Sanne W.;
- Elsayed, Fadwa A.;
- Pagan, Lisa;
- Olderode-Berends, Maran J. W.;
- Garcia, Encarna Gomez;
- Gille, Hans J. P.;
- van Hest, Liselot P.;
- Letteboer, Tom G. W.;
- van der Kolk, Lizet E.;
- Mensenkamp, Arjen R.;
- van Os, Theo A.;
- Spruijt, Liesbeth;
- Redeker, Bert J. W.;
- Suerink, Manon;
- Vos, Yvonne J.;
- Wagner, Anja;
- Wijnen, Juul T.;
- Steyerberg, E. W.;
- Tops, Carli M. J.;
- van Wezel, Tom
Publication type:
Article
Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree.
Published in:
Genes, Chromosomes & Cancer, 1995, v. 13, n. 3, p. 192, doi. 10.1002/gcc.2870130309
By:
- Van Der Luijt, Rob B.;
- Tops, Carli M. J.;
- Khan, P. Meera;
- Van Der Klift, Heleen M.;
- Breukel, Cor;
- Van Leeuwen-Cornelisse, Inge S. J.;
- Dauwerse, Hans G.;
- Beverstock, Geoffrey C.;
- Van Noort, Ellen;
- Snel, Pleun;
- Slors, Frederik J. M.;
- Vasen, Hans F. A.;
- Fodde, Riccardo
Publication type:
Article
Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome.
Published in:
Human Mutation, 2012, v. 33, n. 7, p. 1051, doi. 10.1002/humu.22092
By:
- van der Klift, Heleen M.;
- Tops, Carli M.;
- Hes, Frederik J.;
- Devilee, Peter;
- Wijnen, Juul T.
Publication type:
Article
Recurrence and variability of germline EPCAM deletions in Lynch syndrome.
Published in:
Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446
By:
- 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
Publication type:
Article
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Published in:
Human Mutation, 2010, v. 31, n. 3, p. 247, doi. 10.1002/humu.21180
By:
- Drost, Mark;
- Zonneveld, Jos é B.M.;
- van Dijk, Linda;
- Morreau, Hans;
- Tops, Carli M.;
- Vasen, Hans F.A.;
- Wijnen, Juul T.;
- de Wind, Niels
Publication type:
Article
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
Published in:
Human Mutation, 1997, v. 9, n. 1, p. 7, doi. 10.1002/(SICI)1098-1004(1997)9:1<7::AID-HUMU2>3.0.CO;2-8
By:
- van der Luijt, Rob. B.;
- Khan, P. Meera;
- Vasen, Hans F. A.;
- Tops, Carli M. J.;
- van Leeuwen-Cornelisse, Inge S. J.;
- Wijnen, Juul Th.;
- van der Klift, Heleen M.;
- Plug, Rob J.;
- Griffioen, Gerrit;
- Fodde, Riccardo
Publication type:
Article
Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
Published in:
2021
By:
- Post, Cathalijne C B;
- Stelloo, Ellen;
- Smit, Vincent T H B M;
- Ruano, Dina;
- Tops, Carli M;
- Vermij, Lisa;
- Rutten, Tessa A;
- Jürgenliemk-Schulz, Ina M;
- Lutgens, Ludy C H W;
- Jobsen, Jan J;
- Nout, Remi A;
- Crosbie, Emma J;
- Powell, Melanie E;
- Mileshkin, Linda;
- Leary, Alexandra;
- Bessette, Paul;
- Putter, Hein;
- Boer, Stephanie M de;
- Horeweg, Nanda;
- Nielsen, Maartje
Publication type:
journal article
Early onset MSI-H colon cancer with MLH1promoter methylation, is there a geneticpredisposition?
Published in:
BMC Cancer, 2010, v. 10, p. 180, doi. 10.1186/1471-2407-10-180
By:
- 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
Publication type:
Article

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