1. Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review

   Knopperts, A. P., Nielsen, M., Niessen, R. C., Tops, C. M. J., Jorritsma, B., Varkevisser, J., Wijnen, J., Siezen, C. L. E., Heine-Broring, R. C., van Kranen, H. J., Vos, Y. J., Westers, H., Kampman, E., Sijmons, R. H. & Hes, F. J., Mar-2013, In : Familial Cancer. 12, 1, p. 43-50 8 p.

   Research output: Contribution to journal › Article › Academic › peer-review

2. Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

   Herkert, J. C., Niessen, R. C., Olderode-Berends, M. J. W., Veenstra-Knol, H. E., Vos, Y. J., van der Klift, H. M., Scheenstra, R., Tops, C. M. J., Karrenbeld, A., Peters, F. T. M., Hofstra, R. M. W., Kleibeuker, J. H. & Sijmons, R. H., May-2011, In : European Journal of Cancer. 47, 7, p. 965-982 18 p.

   Research output: Contribution to journal › Article › Academic › peer-review

3. Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome

   Kuiper, R. P., Vissers, L. E. L. M., Venkatachalam, R., Bodmer, D., Hoenselaar, E., Goossens, M., Haufe, A., Kamping, E., Niessen, R. C., Hogervorst, F. B. L., Gille, J. J. P., Redeker, B., Tops, C. M. J., van Gijn, M. E., van den Ouweland, A. M. W., Rahner, N., Steinke, V., Kahl, P., Holinski-Feder, E., Morak, M., Kloor, M., Stemmler, S., Betz, B., Hutter, P., Bunyan, D. J., Syngal, S., Culver, J. O., Graham, T., Chan, T. L., Nagtegaal, I. D., van Krieken, J. H. J. M., Schackert, H. K., Hoogerbrugge, N., van Kessel, A. G. & Ligtenberg, M. J. L., Apr-2011, In : Human Mutation. 32, 4, p. 407-414 8 p.

   Research output: Contribution to journal › Article › Academic › peer-review

4. Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

   Kempers, M. J. E., Kuiper, R. P., Ockeloen, C. W., Chappuis, P. O., Hutter, P., Rahner, N., Schackert, H. K., Steinke, V., Holinski-Feder, E., Morak, M., Kloor, M., Buettner, R., Verwiel, E. T. P., van Krieken, J. H., Nagtegaal, I. D., Goossens, M., van der Post, R. S., Niessen, R. C., Sijmons, R. H., Kluijt, I., Hogervorst, F. B. L., Leter, E. M., Gille, J. J. P., Aalfs, C. M., Redeker, E. J. W., Hes, F. J., Tops, C. M. J., van Nesselrooij, B. P. M., van Gijn, M. E., Garcia, E. B. G., Eccles, D. M., Bunyan, D. J., Syngal, S., Stoffel, E. M., Culver, J. O., Palomares, M. R., Graham, T., Velsher, L., Papp, J., Olah, E., Chan, T. L., Leung, S. Y., van Kessel, A. G., Kiemeney, L. A. L. M., Hoogerbrugge, N. & Ligtenberg, M. J. L., Jan-2011, In : Lancet Oncology. 12, 1, p. 49-55 7 p.

   Research output: Contribution to journal › Article › Academic › peer-review

5. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

   Rump, P., Niessen, R. C., Verbruggen, K. T., Brouwer, O. F., de Raad, M. & Hordijk, R., Feb-2011, In : Clinical Genetics. 79, 2, p. 183-188 6 p.

   Research output: Contribution to journal › Article › Academic › peer-review

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