OpenURL Connection Search

Select item for more details and to access through your institution.

A Founder Mutation of the MSH2 Gene and Hereditary Nonpolyposis Colorectal Cancer in the United States.
Published in:
JAMA: Journal of the American Medical Association, 2004, v. 291, n. 6, p. 718, doi. 10.1001/jama.291.6.718
By:
- Lynch, Henry T.;
- Coronel, Stephanie M.;
- Okimoto, Ross;
- Hampel, Heather;
- Sweet, Kevin;
- Lynch, Jane F.;
- Barrows, Ali;
- Wijnen, Juul;
- van der Klift, Heleen;
- Franken, Patrick;
- Wagner, Anja;
- Fodde, Riccardo;
- de la Chapelle, Albert
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
Insertion of an SVA element in MSH2 as a novel cause of Lynch syndrome.
Published in:
Genes, Chromosomes & Cancer, 2021, v. 60, n. 8, p. 571, doi. 10.1002/gcc.22950
By:
- Yang, Ciyu;
- Li, Yirong;
- Trottier, Magan;
- Farrell, Michael P.;
- Rai, Vikas K.;
- Salo‐Mullen, Erin;
- Gallagher, David J.;
- Stadler, Zsofia K.;
- van der Klift, Heleen M.;
- Zhang, Liying
Publication type:
Article
Marfan-like habitus and familial adenomatous polyposis in two unrelated males: a significant association?
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 5, p. 609, doi. 10.1038/sj.ejhg.5200350
By:
- Calin, George;
- Wijnen, Juul;
- van der Klift, Heleen;
- Ionita, Ana;
- Mulder, Adri;
- Breukel, Cor;
- Smits, Ron;
- Dauwerse, Hans;
- Hansson, Kerstin;
- Calin, Steliana;
- Stefanescu, agos;
- Oproiu, Alexandru;
- Fodde, Riccardo
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
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
Serrated adenomas and mixed polyposis caused by a splice acceptor deletion in the mouse Smad4 gene.
Published in:
Genes, Chromosomes & Cancer, 2003, v. 36, n. 3, p. 273, doi. 10.1002/gcc.10169
By:
- Hohenstein, Peter;
- Molenaar, Lia;
- Elsinga, Joyce;
- Morreau, Hans;
- van der Klift, Heleen;
- Struijk, Ada;
- Jagmohan-Changur, Shantie;
- Smits, Ron;
- van Kranen, Henk;
- van Ommen, Gert-Jan B.;
- Cornelisse, Cees;
- Devilee, Peter;
- Fodde, Riccardo
Publication type:
Article
A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.
Published in:
Genes, Chromosomes & Cancer, 2002, v. 35, n. 1, p. 49, doi. 10.1002/gcc.10094
By:
- Wagner, Anja;
- van der Klift, Heleen;
- Franken, Patrick;
- Wijnen, Juul;
- Breukel, Cor;
- Bezrookove, Vladimir;
- Smits, Ron;
- Kinarsky, Yulia;
- Barrows, Alicia;
- Franklin, Barbara;
- Lynch, Jane;
- Lynch, Henry;
- Fodde, Riccardo
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
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;
- Hansson, Kerstin B.M.;
- Ausems, Margreet G.E.M.;
- Garcia, Encarna Gomez;
- Green, Andrew;
- Hes, Frederik J.;
- Izatt, Louise;
- van Hest, Liselotte P.;
- Alonso, Angel M.;
- Vriends, Annette H.J.T.;
- Wagner, Anja;
- van Zelst-Stams, Wendy A.G.;
- Vasen, Hans F.A.;
- Morreau, Hans;
- Devilee, Peter;
- Wijnen, Juul T.
Publication type:
Article
Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.
Published in:
Human Mutation, 2009, v. 30, n. 1, p. 107, doi. 10.1002/humu.20811
By:
- Vreeswijk, Maaike P.G.;
- Kraan, Jaennelle N.;
- van der Klift, Heleen M.;
- Vink, Geraldine R.;
- Cornelisse, Cees J.;
- Wijnen, Juul T.;
- Bakker, Egbert;
- van Asperen, Christi J.;
- Devilee, Peter
Publication type:
Article
Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy.
Published in:
Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1226766
By:
- Berntsson, Shala Ghaderi;
- Matsson, Hans;
- Kristoffersson, Anna;
- Niemelä, Valter;
- van Duyvenvoorde, Hermine A.;
- Assenbergh, Cindy Richel-van;
- van der Klift, Heleen M.;
- Casar-Borota, Olivera;
- Frykholm, Carina;
- Landtblom, Anne-Marie
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
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
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

Found: 17