Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Autor: M. R. F. Reijnders, M. Kousi, G. M. van Woerden, M. Klein, J. Bralten, G. M. S. Mancini, T. van Essen, M. Proietti-Onori, E. E. J. Smeets, M. van Gastel, A. P. A. Stegmann, S. J. C. Stevens, S. H. Lelieveld, C. Gilissen, R. Pfundt, P. L. Tan, T. Kleefstra, B. Franke, Y. Elgersma, N. Katsanis, H. G. Brunner

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regu

Externí odkaz: https://doaj.org/article/ea6460e697d849ef87cfd70a3e73e744

EBV-positive cutaneous B-cell lymphoproliferative disease after imatinib mesylate (Glivec)

Autor: M. W. Bekkenk, M. H. Vermeer, C. J. L. M. Meijer, P. M. Jansen, J. M. Middeldorp, S. J. C. Stevens, R. Willemze

Publikováno v: Bekkenk, M W, Vermeer, M H, Meijer, C J L M, Jansen, P M, Middeldorp, J M, Stevens, S J C & Willemze, R 2006, EBV-positive cutaneous B-cell lymphoproliferative disease after imatinib mesylate (Glivec) . in Cutaneous Lymphomas Unusual Cases 2 . D. Steinkopff-Verlag, pp. 62-63 . https://doi.org/10.1007/3-7985-1610-3_29
Cutaneous Lymphomas Unusual Cases 2, 62-63
STARTPAGE=62;ENDPAGE=63;TITLE=Cutaneous Lymphomas Unusual Cases 2
Cutaneous Lymphomas Unusual Cases 2 ISBN: 379851609X

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa4bcf189ccb6695906d1cd27c33d69
https://research.vumc.nl/en/publications/f0725b10-e8b1-4366-8ab9-272d5c6d09e9