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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
Diagnostic Approach and Management of Lynch Syndrome (Hereditary Nonpolyposis Colorectal Carcinoma): A Guide for Clinicians.
Published in:
CA: A Cancer Journal for Clinicians, 2006, v. 56, n. 4, p. 213, doi. 10.3322/canjclin.56.4.213
By:
- Hendriks, YvonneM.C.;
- de Jong, Andrea E.;
- Morreau, Hans;
- Tops, Carli M.J.;
- Vansen, Hans F.;
- Wijnen, Juul Th.;
- Breuning, Martijn H.;
- Annette H.J.T. Bröcker-Vriends
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
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
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
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer.
Published in:
BMC Cancer, 2007, v. 7, p. 6, doi. 10.1186/1471-2407-7-6
By:
- Middeldorp, Anneke;
- Jagmohan-Changur, Shantie;
- Helmer, Quinta;
- van der Klift, Heleen M.;
- Tops, Carli M.J.;
- Vasen, Hans F.A.;
- Devilee, Peter;
- Morreau, Hans;
- Houwing-Duistermaat, Jeanine J.;
- Wijnen, Juul T.;
- van Wezel, Tom
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
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
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies.
Published in:
2007
By:
- Poley, Jan-Werner;
- Wagner, Anja;
- Hoogmans, Monique M. C. P.;
- Menko, Fred H.;
- Tops, Carli;
- Kros, Johan M.;
- Reddingius, Roel E.;
- Meijers-Heijboer, Hanne;
- Kuipers, Ernst J.;
- Dinjens, Winand N. M.;
- Rotterdam Initiative on Gastrointestinal Hereditary Tumors
Publication type:
journal 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
MUTYH gene variants and breast cancer in a Dutch case-control study.
Published in:
Breast Cancer Research & Treatment, 2012, v. 134, n. 1, p. 219, doi. 10.1007/s10549-012-1965-0
By:
- Out, Astrid;
- Wasielewski, Marijke;
- Huijts, Petra;
- Minderhout, Ivonne;
- Houwing-Duistermaat, Jeanine;
- Tops, Carli;
- Nielsen, Maartje;
- Seynaeve, Caroline;
- Wijnen, Juul;
- Breuning, Martijn;
- Asperen, Christi;
- Schutte, Mieke;
- Hes, Frederik;
- Devilee, Peter
Publication type:
Article
Increased MUTYH mutation frequency among Dutch families with breast cancer and colorectal cancer.
Published in:
Breast Cancer Research & Treatment, 2011, v. 124, n. 3, p. 635, doi. 10.1007/s10549-010-0801-7
By:
- Wasielewski, Marijke;
- Out, Astrid;
- Vermeulen, Joyce;
- Nielsen, Maartje;
- Ouweland, Ans;
- Tops, Carli;
- Wijnen, Juul;
- Vasen, Hans;
- Weiss, Marjan;
- Klijn, Jan;
- Devilee, Peter;
- Hes, Frederik;
- Schutte, Mieke
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
Familial endometrial cancer in female carriers of MSH6 germline mutations.
Published in:
Nature Genetics, 1999, v. 23, n. 2, p. 142, doi. 10.1038/13773
By:
- Wijnen, Juul;
- Leeuw, Wiljo de;
- Vasen, Hans;
- Klift, Heleen van der;
- Møller, Pål;
- Stormorken, Astrid;
- Meijers-Heijboer, Hanne;
- Lindhout, Dick;
- Menko, Fred;
- Vossen, Sandra;
- Möslein, Gabriela;
- Tops, Carli;
- Bröcker-Vriends, Annette;
- Wu, Ying;
- Hofstra, Robert;
- Sijmons, Rolf;
- Cornelisse, Cees;
- Morreau, Hans;
- Fodde, Riccardo
Publication type:
Article
MSH2 genomic deletions are a frequent cause of HNPCC.
Published in:
Nature Genetics, 1998, v. 20, n. 4, p. 326, doi. 10.1038/3795
By:
- Wijnen, Juul;
- van der Klift, Heleen;
- Vasen, Hans;
- Khan, P. Meera;
- Menko, Fred;
- Tops, Carli;
- Meijers Heijboer, Hanne;
- Lindhout, Dick;
- Møller, Pål;
- Fodde, Ricardo
Publication type:
Article
Comprehensive genetic analysis of seven large families with mismatch repair proficient colorectal cancer.
Published in:
Genes, Chromosomes & Cancer, 2010, v. 49, n. 6, p. 539, doi. 10.1002/gcc.20763
By:
- Middeldorp, Anneke;
- Jagmohan-Changur, Shantie C.;
- van der Klift, Heleen M.;
- van Puijenbroek, Marjo;
- Houwing-Duistermaat, Jeanine J.;
- Webb, Emily;
- Houlston, Richard;
- Tops, Carli;
- Vasen, Hans F. A.;
- Devilee, Peter;
- Morreau, Hans;
- van Wezel, Tom;
- Wijnen, Juul
Publication type:
Article
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).
Published in:
Genes, Chromosomes & Cancer, 2005, v. 44, n. 2, p. 123, doi. 10.1002/gcc.20219
By:
- Heleen van der Klift;
- Juul Wijnen;
- Anja Wagner;
- Paul Verkuilen;
- Carli Tops;
- Robyn Otway;
- Maija Kohonen‐Corish;
- Hans Vasen;
- Cristina Oliani;
- Daniela Barana;
- Pal Moller;
- Celia DeLozier‐Blanchet;
- Pierre Hutter;
- William Foulkes;
- Henry Lynch;
- John Burn;
- Gabriela Möslein;
- Riccardo Fodde
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
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
Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands.
Published in:
Familial Cancer, 2017, v. 16, n. 2, p. 271, doi. 10.1007/s10689-016-9943-z
By:
- Dommering, Charlotte;
- Henneman, Lidewij;
- Hout, Annemarie;
- Jonker, Marianne;
- Tops, Carli;
- Ouweland, Ans;
- Luijt, Rob;
- Mensenkamp, Arjen;
- Hogervorst, Frans;
- Redeker, Egbert;
- Die-Smulders, Christine;
- Moll, Annette;
- Meijers-Heijboer, Hanne
Publication type:
Article
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Published in:
Familial Cancer, 2015, v. 14, n. 2, p. 247, doi. 10.1007/s10689-015-9780-5
By:
- Out, Astrid;
- Minderhout, Ivonne;
- Stoep, Nienke;
- Bommel, Lysette;
- Kluijt, Irma;
- Aalfs, Cora;
- Voorendt, Marsha;
- Vossen, Rolf;
- Nielsen, Maartje;
- Vasen, Hans;
- Morreau, Hans;
- Devilee, Peter;
- Tops, Carli;
- Hes, Frederik
Publication type:
Article
Phenotype of SDHB mutation carriers in the Netherlands.
Published in:
Familial Cancer, 2014, v. 13, n. 4, p. 651, doi. 10.1007/s10689-014-9738-z
By:
- Hulsteijn, Leonie;
- Niemeijer, Nienke;
- Hes, Frederik;
- Bayley, Jean-Pierre;
- Tops, Carli;
- Jansen, Jeroen;
- Corssmit, Eleonora
Publication type:
Article
Value-based healthcare in Lynch syndrome.
Published in:
Familial Cancer, 2013, v. 12, n. 2, p. 347, doi. 10.1007/s10689-013-9655-6
By:
- Hennink, Simone;
- Hofland, Nandy;
- Gopie, Jessica;
- Kaa, Corinne;
- Koning, Kimberley;
- Nielsen, Maartje;
- Tops, Carli;
- Morreau, Hans;
- Vos tot Nederveen Cappel, Wouter;
- Langers, Alexandra;
- Hardwick, James;
- Gaarenstroom, Katja;
- Tollenaar, Rob;
- Veenendaal, Roeland;
- Tibben, Aad;
- Wijnen, Juul;
- Heck, Magdalena;
- Asperen, Christi;
- Roukema, Anne;
- Hommes, Daan
Publication type:
Article
Mutation and association analyses of the candidate genes ESR1, ESR2, MAX, PCNA, and KAT2A in patients with unexplained MSH2-deficient tumors.
Published in:
Familial Cancer, 2012, v. 11, n. 1, p. 19, doi. 10.1007/s10689-011-9489-z
By:
- Rahner, Nils;
- Brockschmidt, Felix;
- Steinke, Verena;
- Kahl, Philip;
- Becker, Tim;
- Vasen, Hans;
- Wijnen, Juul;
- Tops, Carli;
- Holinski-Feder, Elke;
- Ligtenberg, Marjolijn;
- Spruijt, Liesbeth;
- Görgens, Heike;
- Stemmler, Susanne;
- Kloor, Matthias;
- Dietmaier, Wolfgang;
- Schumacher, Johannes;
- Nöthen, Markus;
- Propping, Peter
Publication type:
Article
Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
Published in:
Familial Cancer, 2008, v. 7, n. 4, p. 319, doi. 10.1007/s10689-008-9194-8
By:
- Puijenbroek, Marjo;
- Middeldorp, Anneke;
- Tops, Carli;
- Eijk, Ronald;
- Klift, Heleen;
- Vasen, Hans;
- Wijnen, Juul;
- Hes, Frederik;
- Oosting, Jan;
- Wezel, Tom;
- Morreau, Hans
Publication type:
Article
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
Published in:
Familial Cancer, 2007, v. 6, n. 1, p. 43, doi. 10.1007/s10689-006-9103-y
By:
- Marjo van Puijenbroek;
- Maartje Nielsen;
- Tjitske Reinards;
- Marjan Weiss;
- Anja Wagner;
- Yvonne Hendriks;
- Hans Vasen;
- Carli Tops;
- Juul Wijnen;
- Tom van Wezel;
- Frederik Hes;
- Hans Morreau
Publication type:
Article
Long Term Follow-up of HNPCC Gene Mutation Carriers: Compliance with Screening and Satisfaction with Counseling and Screening Procedures.
Published in:
Familial Cancer, 2005, v. 4, n. 4, p. 295, doi. 10.1007/s10689-005-0658-9
By:
- Anja Wagner;
- Ingrid van Kessel;
- Mieke Kriege;
- Carli Tops;
- Juul Wijnen;
- Hans Vasen;
- Conny van der Meer;
- Iris van Oostrom;
- Hanne Meijers-Heijboer
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
Leiden open variation database of the MUTYH gene.
Published in:
2010
By:
- Out, Astrid A.;
- Tops, Carli M.J.;
- Nielsen, Maartje;
- Weiss, Marjan M.;
- van Minderhout, Ivonne J.H.M.;
- Fokkema, Ivo F.A.C.;
- Buisine, Marie-Pierre;
- Claes, Kathleen;
- Colas, Chrystelle;
- Fodde, Riccardo;
- Fostira, Florentia;
- Franken, Patrick F.;
- Gaustadnes, Mette;
- Heinimann, Karl;
- Hodgson, Shirley V.;
- Hogervorst, Frans B.L.;
- Holinski-Feder, Elke;
- Lagerstedt-Robinson, Kristina;
- Olschwang, Sylviane;
- Ans M.W., van den Ouweland
Publication type:
Other
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients.
Published in:
Human Mutation, 2010, v. 31, n. 5, p. 578, doi. 10.1002/humu.21229
By:
- van der Klift, Heleen M.;
- Tops, Carli M.J.;
- Bik, Elsa C.;
- Boogaard, Merel W.;
- Borgstein, Anne-Marijke;
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A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
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Human Mutation, 2010, v. 31, n. 3, p. 247, doi. 10.1002/humu.21180
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Publication type:
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Deep sequencing to reveal new variants in pooled DNA samples.
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Human Mutation, 2009, v. 30, n. 12, p. 1703, doi. 10.1002/humu.21122
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Publication type:
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Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis.
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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
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Publication type:
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Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
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2021
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Publication type:
journal article
Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients.
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Oncogene, 2001, v. 20, n. 43, p. 6241, doi. 10.1038/sj.onc.1204795
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- Tops, Carli;
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Publication type:
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The importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.
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Hereditary Cancer in Clinical Practice, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1897-4287-11-20
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Publication type:
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Delineating genotype and parent‐of‐origin effect on the phenotype in MSH6‐associated Lynch syndrome.
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Genes, Chromosomes & Cancer, 2024, v. 63, n. 5, p. 1, doi. 10.1002/gcc.23237
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- Møller, Pal;
- Suerink, Manon;
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Publication type:
Article
Combined analysis of three lynch syndrome cohorts confirms the modifying effects of 8q23.3 and 11q23.1 in MLH1 mutation carriers.
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International Journal of Cancer, 2013, v. 132, n. 7, p. 1556, doi. 10.1002/ijc.27843
By:
- Talseth‐Palmer, Bente A.;
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- Jagmohan‐Changur, Shantie;
- Barker, Daniel;
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- Kurzawski, Grzegorz;
- Spigelman, Allan;
- Møller, Pål;
- Morreau, Hans M.;
- Van Wezel, Tom;
- Lubinski, Jan;
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Publication type:
Article
Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients.
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PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157381
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- Jansen, Anne M. L.;
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- 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:
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The phenotype of SDHB germline mutation carriers: a nationwide study.
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European Journal of Endocrinology, 2017, v. 177, n. 2, p. 115, doi. 10.1530/EJE-17-0074
By:
- Niemeijer, Nicolasine D.;
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- 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.;
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- Dreijerink, Koen M. A.;
- van Dooren, Marieke F.;
- Bayley, Jean-Pierre;
- Pereira, Alberto M.;
- Jansen, Jeroen C.;
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Publication type:
Article

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