20132019
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Research Output 2013 2019

2019

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort

Bakhuizen, J. J., Hogervorst, F. B., Velthuizen, M. E., Ruijs, M. W., van Engelen, K., van Os, T. A., Gille, J. J., Collee, M., van den Ouweland, A. M., van Asperen, C. J., Kets, C. M., Mensenkamp, A. R., Leter, E. M., Blok, M. J., de Jong, M. M. & Ausems, M. G., Apr 2019, In : Familial Cancer. 18, 2, p. 273-280 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2018

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study

van der Tuin, K., Mensenkamp, A. R., Tops, C. M. J., Corssmit, E. P. M., Dinjens, W. N., van de Horst-Schrivers, A. N., Jansen, J. C., de Jong, M. M., Kunst, H. P. M., Kusters, B., Leter, E. M., Morreau, H., van Nesselrooij, B. M. P., Oldenburg, R. A., Spruijt, L., Hes, F. J. & Timmers, H. J. L. M., 1 Feb 2018, In : Journal of Clinical Endocrinology & Metabolism. 103, 2, p. 438-445 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

New mutations and an updated database for the patched-1 (PTCH1) gene

Reinders, M. G., van Hout, A. F., Cosgun, B., Paulussen, A. D., Leter, E. M., Steijlen, P. M., Mosterd, K., van Geel, M. & Gille, J. J., May 2018, In : Molecular genetics & genomic medicine. 6, 3, p. 409-415 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2017

Postzygotic mosaicism in basal cell naevus syndrome

Reinders, M. G. H. C., Boersma, H. J., Leter, E. M., Vreeburg, M., Paulussen, A. D. C., Arits, A. H. M. M., Roemen, G. M. J. M., Speel, E. J. M., Steijlen, P. M., van Geel, M. & Mosterd, K., Jul 2017, In : British Journal of Dermatology. 177, 1, p. 249-252 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

2013
7 Citations (Scopus)

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Menko, F. H., Johannesma, P. C., van Moorselaar, R. J. A., Reinhard, R., van Waesberghe, J. H., Thunnissen, E., Houweling, A. C., Leter, E. M., Waisfisz, Q., van Doorn, M. B., Starink, T. M., Postmus, P. E., Coull, B. J., van Steensel, M. A. M. & Gille, J. J. P., Sep 2013, In : Familial Cancer. 12, 3, p. 373-379

Research output: Contribution to journalArticleAcademicpeer-review