1. 2020
  2. Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers

    Blatter, R., Tschupp, B., Aretz, S., Bernstein, I., Colas, C., Evans, D. G., Genuardi, M., Hes, F. J., Hüneburg, R., Järvinen, H., Lalloo, F., Moeslein, G., Renkonen-Sinisalo, L., Resta, N., Spier, I., Varvara, D., Vasen, H., Latchford, A. R. & Heinimann, K., Sep 2020, In : Genetics in Medicine : Official Journal of the American College of Medical Genetics. 22, 9, p. 1524-1532 9 p.

    Research output: Contribution to journalArticle

  3. Lack of genotype-phenotype correlation in basal cell nevus syndrome: a Dutch multicenter retrospective cohort study

    Cosgun, B., Reinders, M. G. H. C., van Geel, M., Steijlen, P. M., van Hout, A. F. W., Leter, E. M., van der Smagt, J. J., van Hagen, J. M., Berger, L. P. V., Kets, C. M., Wagner, A., Aalfs, C. M., Hes, F. J., van der Kolk, L. E., Gille, J. J. P. & Mosterd, K., Aug 2020, In : Journal of the American Academy of Dermatology. 83, 2, p. 604-607 4 p.

    Research output: Contribution to journalArticle

  4. A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature

    Aydemirli, M. D., van der Tuin, K., Hes, F. J., van den Ouweland, A. M. W., van Wezel, T., Kapiteijn, E. & Morreau, H., Jan 2020, In : Familial Cancer. 19, 1, p. 15-21 7 p.

    Research output: Contribution to journalArticle

  5. Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium

    International Cancer of the Pancreas Screening (CAPS) consortium, Goggins, M., Overbeek, K. A., Brand, R., Syngal, S., Del Chiaro, M., Bartsch, D. K., Bassi, C., Carrato, A., Farrell, J., Fishman, E. K., Fockens, P., Gress, T. M., van Hooft, J. E., Hruban, R. H., Kastrinos, F., Klein, A., Lennon, A. M., Lucas, A., Park, W. & 7 others, Rustgi, A., Simeone, D., Stoffel, E., Vasen, H. F. A., Cahen, D. L., Canto, M. I. & Bruno, M., Jan 2020, In : Gut. 69, 1, p. 7-17 11 p.

    Research output: Contribution to journalArticle

  6. Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

    Terlouw, D., Suerink, M., Singh, S. S., Gille, H. J. J. P., Hes, F. J., Langers, A. M. J., Morreau, H., Vasen, H. F. A., Vos, Y. J., van Wezel, T., Tops, C. M., Ten Broeke, S. W. & Nielsen, M., 2020, In : European Journal of Human Genetics. 28, 2, p. 222-230 9 p.

    Research output: Contribution to journalArticle

  7. The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

    Jansen, A. M. L., Tops, C. M. J., Ruano, D., van Eijk, R., Wijnen, J. T., Ten Broeke, S., Nielsen, M., Hes, F. J., van Wezel, T. & Morreau, H., 2020, In : European Journal of Human Genetics. 28, 3, p. 333-338 6 p.

    Research output: Contribution to journalArticle

  8. Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma

    Bayley, J. P., Bausch, B., Rijken, J. A., van Hulsteijn, L. T., Jansen, J. C., Ascher, D., Pires, D. E. V., Hes, F. J., Hensen, E. F., Corssmit, E. P. M., Devilee, P. & Neumann, H. P. H., 2020, In : Journal of Medical Genetics. 57, 2, p. 96-103 8 p.

    Research output: Contribution to journalArticle

  9. 2019
  10. Surveillance for familial melanoma: recommendations from a national centre of expertise

    Halk, A. B., Potjer, T. P., Kukutsch, N. A., Vasen, H. F. A., Hes, F. J. & van Doorn, R., Sep 2019, In : British Journal of Dermatology. 181, 3, p. 594-596 3 p.

    Research output: Contribution to journalLetter

Previous 1 2 3 4 5 6 7 Next

ID: 44432680