Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients

por Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Morreau, Hans, Hes, Frederik J., van Wezel, Tom
Publicado 2021

Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps

por Elsayed, Fadwa A., Tops, Carli M. J., Nielsen, Maartje, Ruano, Dina, Vasen, Hans F. A., Morreau, Hans, J. Hes, Frederik, van Wezel, Tom
Publicado 2019

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 2015

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

por Akrout, Firas, Achour, Ahlem, Tops, Carli M. J., Gallon, Richard, Meddeb, Rym, Achoura, Sameh, Ben Rekaya, Mariem, Hamdeni, Emna, Rammeh, Soumaya, Chkili, Ridha, Mansouri, Nada, Belguith, Neila, Mrad, Ridha
Publicado 2023

Gynecological Surveillance and Surgery Outcomes in Dutch Lynch Syndrome Carriers

por 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
Publicado 2021

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 2013

Unexplained mismatch repair deficiency: Case closed

por Eikenboom, Ellis L., Moen, Sarah, van Leeuwen, Lotte, Geurts-Giele, Willemina R.R., Tops, Carli M.J., van Ham, Tjakko J., Dinjens, Winand N.M., Dubbink, Hendrikus J., Spaander, Manon C.W., Wagner, Anja
Publicado 2022

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 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 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 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 2012

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 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 2016

Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer

por 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, de Boer, Stephanie M, Horeweg, Nanda, Nielsen, Maartje, van Wezel, Tom, Bosse, Tjalling, Creutzberg, Carien L
Publicado 2021

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

por 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, Hes, Frederik J, Morreau, Hans, de Miranda, Noel FCC, Sijmons, Rolf H, van Wezel, Tom
Publicado 2017

Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia

por 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, Hes, Frederik J, Morreau, Hans, de Miranda, Noel FCC, Sijmons, Rolf H, van Wezel, Tom
Publicado 2018

SNP association study in PMS2-associated Lynch syndrome

por 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, Nielsen, Maartje
Publicado 2017