Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Neurofibromatosis 1/genetics"'
Autor:
M. J. Ottenhoff, S. Dijkhuizen, A. C. H. Ypelaar, N. L. de Oude, S. K. E. Koekkoek, S. S.-H. Wang, C. I. De Zeeuw, Y. Elgersma, H. J. Boele
Publikováno v:
Scientific Reports, 12(1):19041. Nature Publishing Group
Scientific Reports, 12(1). Nature Publishing Group
Scientific Reports, 12(1). Nature Publishing Group
Individuals with Neurofibromatosis type 1 (NF1) experience a high degree of motor problems. The cerebellum plays a pivotal role in motor functioning and the NF1 gene is highly expressed in cerebellar Purkinje cells. However, it is not well understood
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b7df943420990f38c2feab8bd5c3e22
https://pure.eur.nl/en/publications/2d04d743-343a-47e1-a222-f67f831d32c8
https://pure.eur.nl/en/publications/2d04d743-343a-47e1-a222-f67f831d32c8
Autor:
Harry Begthel, Johan H. van Es, Hans Clevers, Oded Kopper, Celien P.H. Vreuls, Kadi Lõhmussaar, Jeroen Korving
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Nature Communications
Nature Communications, 11(1). Nature Publishing Group
Nature Communications
Nature Communications, 11(1). Nature Publishing Group
High-grade serous ovarian cancer (HG-SOC)—often referred to as a “silent killer”—is the most lethal gynecological malignancy. The fallopian tube (murine oviduct) and ovarian surface epithelium (OSE) are considered the main candidate tissues o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9a7f1303fbb141a1656f3962916050f
https://doaj.org/article/b561dc387d334f75b89e8a94ccc8b593
https://doaj.org/article/b561dc387d334f75b89e8a94ccc8b593
Akademický článek
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Autor:
Kobus, K., Hartl, D., Ott, C.E., Osswald, M., Huebner, A., Hagen, M. von der, Emmerich, D., Kuhnisch, J., Morreau, H., Hes, F.J., Mautner, V.F., Harder, A., Tinschert, S., Mundlos, S., Kolanczyk, M.
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)
PLoS One
PLoS ONE, 10(3)
PLoS ONE, Vol 10, Iss 3, p e0119030 (2015)
PLoS One
PLoS ONE, 10(3)
BackgroundNeurofibromatosis type I (NF1, MIM#162200) is a relatively frequent genetic condition, which predisposes to tumor formation. Apart from tumors, individuals with NF1 often exhibit endocrine abnormalities such as precocious puberty (2,5-5% of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::77dfdb0b7c8e5c4f35061f94659cf0bf
https://pubmed.ncbi.nlm.nih.gov/25775093
https://pubmed.ncbi.nlm.nih.gov/25775093
Autor:
Thomas De Raedt, Thomy de Ravel, Eric Legius, Karen Cichowski, Eline Beert, Frank Van Calenbergh, L Kluwe, Maria Debiec-Rychter, Olivier Gevaert, Hilde Brems, Victor F. Mautner, Annick Van Den Bruel, Joseph Schoenaers, Raf Sciot, Bruno Daniëls, Ivo De Wever
Benign peripheral nerve sheath tumors (PNSTs) are a characteristic feature of neurofibromatosis type I (NF1) patients. NF1 individuals have an 8–13% lifetime risk of developing a malignant PNST (MPNST). Atypical neurofibromas are symptomatic, hyper
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31a67a06666025761da7cdd03a4b3cbe
https://biblio.vub.ac.be/vubir/atypical-neurofibromas-in-neurofibromatosis-type-1-are-premalignant-tumors(04775399-4fc5-4d4f-aa3a-2085bbbbfa2f).html
https://biblio.vub.ac.be/vubir/atypical-neurofibromas-in-neurofibromatosis-type-1-are-premalignant-tumors(04775399-4fc5-4d4f-aa3a-2085bbbbfa2f).html
Publikováno v:
Scopus-Elsevier
Human Molecular Genetics, Vol. 3, No 4 (1994) pp. 663-665
Human Molecular Genetics, Vol. 3, No 4 (1994) pp. 663-665
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::206f5bf018d96eb8696fc4a9d5d09cff
https://pubmed.ncbi.nlm.nih.gov/8069315
https://pubmed.ncbi.nlm.nih.gov/8069315