Zobrazeno 1 - 10
of 16
pro vyhledávání: '"F J Hes"'
Autor:
A. Van Der Kelen, M. De Rycke, Herman Tournaye, M. De Vos, Christophe Blockeel, F J Hes, Veerle Berckmoes, P Verdyck, Willem Verpoest, Samuel Santos-Ribeiro, K. Keymolen, A. De Vos
STUDY QUESTION What is the likelihood of success of a single cycle of preimplantation genetic testing for monogenic disorders (PGT-M), measured as the cumulative live birth rate (CLBR) and based on various patient demographics? SUMMARY ANSWER For all
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c5bb9a48d89673f22fd037db53a05c
https://doi.org/10.1093/humrep/deab136
https://doi.org/10.1093/humrep/deab136
Autor:
J A, Rijken, N D, Niemeijer, M A, Jonker, K, Eijkelenkamp, J C, Jansen, A, van Berkel, H J L M, Timmers, H P M, Kunst, P H L T, Bisschop, M N, Kerstens, K M A, Dreijerink, M F, van Dooren, A N A, van der Horst-Schrivers, F J, Hes, C R, Leemans, E P M, Corssmit, E F, Hensen
Publikováno v:
Clinical genetics. 93(1)
Germline mutations in succinate dehydrogenase B (SDHB) predispose to hereditary paraganglioma (PGL) syndrome type 4. The risk of developing PGL or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwid
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::71e327ec02270b902eaf96c171e0c565
https://pubmed.ncbi.nlm.nih.gov/28503760
https://pubmed.ncbi.nlm.nih.gov/28503760
Autor:
M. A. M. Feldberg, F. J. Hes
Publikováno v:
European Radiology. 9:598-610
Von Hippel-Lindau disease (VHL) is a hereditary syndrome characterized by a predisposition for bilateral and multicentric retinal angiomas, hemangioblastomas in the central nervous system (CNS), renal cell carcinomas, pheochromocytomas, islet cell tu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7230abf0f0d2dcdc37bb4ffe1b5aceb9
https://doi.org/10.1007/s003300050717
https://doi.org/10.1007/s003300050717
Autor:
M.A.M. Feldberg, F J Hes, Jwm Hoppener, Cornelis J.M. Lips, J K Ploos van Amstel, R J Hené, T J van Vroonhoven, Peter L. Pearson, R. A. Zewald, P J Slootweg
Publikováno v:
European Journal of Clinical Investigation. 29:68-75
Background An evaluation of nephron-sparing surgery (NSS) or radical nephrectomy (RN) for treating renal cell carcinoma (RCC) in patients with von Hippel–Lindau disease (VHL) was carried out. Methods Between 1976 and 1997, 10 patients with RCC from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::97fc6dc1c5fe89dffd566cfd41fe312a
https://doi.org/10.1046/j.1365-2362.1999.00402.x
https://doi.org/10.1046/j.1365-2362.1999.00402.x
Autor:
M H, Nieuwenhuis, C M, Kets, M, Murphy-Ryan, C, Colas, P, Möller, F J, Hes, S V, Hodgson, M J W, Olderode-Berends, S, Aretz, K, Heinimann, E B, Gomez Garcia, F, Douglas, A, Spigelman, S, Timshel, N M, Lindor, H F A, Vasen
Publikováno v:
Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland. 14(9)
Patients with germline phosphatase and tensin homologue (PTEN) mutations develop hamartomatous lesions in several organs and are at increased risk of various malignancies. We assessed the lifetime risk of benign and malignant gastrointestinal lesions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b77cee7863e81e33d51cd1e1b3447776
https://pubmed.ncbi.nlm.nih.gov/22672595
https://pubmed.ncbi.nlm.nih.gov/22672595
Autor:
C R M, Lammens, E M A, Bleiker, S, Verhoef, M G E M, Ausems, D, Majoor-Krakauer, R H, Sijmons, F J, Hes, E B, Gómez-García, T A M, Van Os, L, Spruijt, R B, van der Luijt, A M W, van den Ouweland, M W G, Ruijs, C, Gundy, T, Nagtegaal, N K, Aaronson
Publikováno v:
Psycho-oncology. 20(6)
Li Fraumeni syndrome (LFS) and Von Hippel-Lindau disease (VHL) are two rare hereditary tumor syndromes, characterized by a high risk of developing multiple tumors at various sites and ages for which preventive and treatment options are limited. For p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f4e2447b970cc5f09251364bf1b62727
https://pubmed.ncbi.nlm.nih.gov/21384469
https://pubmed.ncbi.nlm.nih.gov/21384469
Autor:
N. Jones, M. Nielsen, S. Vogt, C. M. Tops, H. F. A. Vasen, F. J. Hes, S. Aretz, J. R. Sampson
Publikováno v:
Hereditary Colorectal Cancer ISBN: 9781441966025
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::94e050b0121cd4ae0f9b698b4c294e73
https://doi.org/10.1007/978-1-4419-6603-2_19
https://doi.org/10.1007/978-1-4419-6603-2_19
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 146(29)
Von Hippel-Lindau (VHL) disease is an autosomal, dominantly inherited, tumour syndrome. Carriers of a germline mutation in the VHL tumour suppressor genes are predisposed to develop tumours in various organs including the eye, cerebellum and kidney.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::714e18816ebf64a227b3773f74882622
https://pubmed.ncbi.nlm.nih.gov/12162174
https://pubmed.ncbi.nlm.nih.gov/12162174
Autor:
R. B. van der Luijt, Robert C. McMahon, J.J. van der Smagt, Shane McKee, Eamonn R. Maher, Cornelis J.M. Lips, Fiona Macdonald, F J Hes, Pauline K. Rehal, Peter L. Pearson, Joanne Whittaker, D Dow, M J B Taphoorn, R. A. Zewald
OBJECTIVES— Central nervous system haemangioblastoma (HAB) is a major feature of von Hippel-Lindau (VHL) disease, and it is estimated that about 30% of HAB patients have VHL disease. Consequently, it is widely recommended that sporadic HAB patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::744a7929d47bfff37a7d0ed67b6bc42f
https://europepmc.org/articles/PMC1734505/
https://europepmc.org/articles/PMC1734505/
Autor:
F J, Hes, R B, van der Luijt
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 144(11)
Von Hippel-Lindau disease (VHL) is an autosomal dominantly inherited syndrome with high penetrance, characterised by tumours in various organs. The Dutch VHL working group presents guidelines for DNA testing and clinical monitoring, to enhance early
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3e4dfcc287c05d7fdf92fe7234668b03
https://pubmed.ncbi.nlm.nih.gov/10735133
https://pubmed.ncbi.nlm.nih.gov/10735133