Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

Por van der Klift, Heleen M, Jansen, Anne M L, van der Steenstraten, Niki, Bik, Elsa C, Tops, Carli M J, Devilee, Peter, Wijnen, Juul T
Publicado no Mol Genet Genomic Med (2015)

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

Por 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
Publicado em 2013

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 em 2013

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer

Por 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
Publicado no Eur J Hum Genet (2015)

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients

Por Jóri, Balazs, Kamps, Rick, Xanthoulea, Sofia, Delvoux, Bert, Blok, Marinus J., Van de Vijver, Koen K., de Koning, Bart, Oei, Felicia Trups, Tops, Carli M., Speel, Ernst J. M., Kruitwagen, Roy F., Gomez-Garcia, Encarna B., Romano, Andrea
Publicado no Oncotarget (2015)

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 em 2012

High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations

Por Out, Astrid A., van Minderhout, Ivonne J. H. M., van der Stoep, Nienke, van Bommel, Lysette S. R., Kluijt, Irma, Aalfs, Cora, Voorendt, Marsha, Vossen, Rolf H. A. M., Nielsen, Maartje, Vasen, Hans F. A., Morreau, Hans, Devilee, Peter, Tops, Carli M. J., Hes, Frederik J.
Publicado no Fam Cancer (2015)

Chromosome 8q23.3, 10p14 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome – a combined analysis of the Australian, Dutch and Polish Lynch syndrome cohorts

Por Talseth-Palmer, Bente A, Wijnen, Juul T, Brenne, Ingvild S, Jagmohan-Changur, Shantie, 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 FA, Scott, Rodney J
Publicado em 2012

Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis

Por Hes, Frederik J, Ruano, Dina, Nieuwenhuis, Marry, Tops, Carli M, Schrumpf, Melanie, Nielsen, Maartje, Huijts, Petra E A, Wijnen, Juul T, Wagner, Anja, Gómez García, Encarna B, Sijmons, Rolf H, Menko, Fred H, Letteboer, Tom G W, Hoogerbrugge, Nicoline, Harryvan, Jan, Kampman, Ellen, Morreau, Hans, Vasen, Hans F A, van Wezel, Tom
Publicado em 2013

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

Por Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
Publicado no Fam Cancer (2016)

Whole Gene Capture Analysis of 15 CRC Susceptibility Genes in Suspected Lynch Syndrome Patients

Por 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.
Publicado no PLoS One (2016)

Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database

Por Thompson, Bryony A., Spurdle, Amanda B., Plazzer, John-Paul, Greenblatt, Marc S., Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T., du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P., Farrington, Susan M., Frayling, Ian M., Frebourg, Thierry, Goldgar, David E., Heinen, Christopher D., Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J., Sijmons, Rolf, Tavtigian, Sean V., Tops, Carli M., Weber, Thomas, Wijnen, Juul, Woods, Michael O., Macrae, Finlay, Genuardi, Maurizio
Publicado no Nat Genet (2013)