Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Roelof Pruntel"'
Autor:
Vincent M. T. de Jong, Roelof Pruntel, Tessa G. Steenbruggen, Fonnet E. Bleeker, Petra Nederlof, Frans B. L. Hogervorst, Sabine C. linn
Publikováno v:
Familial Cancer. 22:151-154
An inherited single nucleotide variant (SNV) in the 5′UTR of the BRCA1 gene c.-107A > T was identified to be related to BRCA1 promoter hypermethylation and a hereditary breast and ovarian cancer phenotype in two UK families. We investigated whether
Autor:
Vincent M T, de Jong, Roelof, Pruntel, Tessa G, Steenbruggen, Fonnet E, Bleeker, Petra, Nederlof, Frans B L, Hogervorst, Sabine C, Linn
Publikováno v:
Familial cancer.
An inherited single nucleotide variant (SNV) in the 5'UTR of the BRCA1 gene c.-107A T was identified to be related to BRCA1 promoter hypermethylation and a hereditary breast and ovarian cancer phenotype in two UK families. We investigated whether thi
Autor:
Marielle W. G. Ruijs, Roelof Pruntel, Laura van 't Veer, Daphne de Jong, Senno Verhoef, Arno Floore, Fred H. Menko, G. Wigbout
Publikováno v:
Familial Cancer. 5:169-174
Li-Fraumeni syndrome (LFS) is an autosomal-dominant condition characterized by early-onset sarcoma, breast cancer and other specific tumour types. In most LFS kindreds germline TP53 mutations have been identified. In general, TP53 germline mutations
Autor:
Encarna Gomez Garcia, Anja Wagner, Frans B. L. Hogervorst, Annemarie H. van der Hout, Hanne Meijers-Heijboer, Rolf H. Sijmons, Cora M. Aalfs, Leo P. ten Kate, Senno Verhoef, Fred H. Menko, Laura J. van't Veer, Margreet G. E. M. Ausems, Roelof Pruntel, Matti A. Rookus, Marielle W. G. Ruijs, Nicoline Hoogerbrugge, Irma Kluijt, Christi J. van Asperen
Publikováno v:
Journal of Medical Genetics, 47(6), 421-428. BMJ Publishing Group
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428
Contains fulltext : 89059.pdf (Publisher’s version ) (Closed access) BACKGROUND Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour TP53 germline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111cbd6bb5c32db9db64906b0bcc5a52
https://hdl.handle.net/1887/108974
https://hdl.handle.net/1887/108974
Autor:
Marjanka K. Schmidt, Mariëlle W. G. Ruijs, Laura J. van't Veer, Roelof Pruntel, Kristiina Aittomäki, Senno Verhoef, Johanna Tommiska, Heli Nevanlinna
Publikováno v:
European journal of human genetics, 15(1), 110-114. Nature Publishing Group
Li–Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition syndrome of which the majority is caused by TP53 germline mutations and is characterised by different tumour types occurring at relatively young age. Recently, it was shown t
Autor:
Tessa M. Bosch, Jos H. Beijnen, Roelof Pruntel, Jan H.M. Schellens, Maarten J. Deenen, Paul H.M. Smits, Irma Meijerman
Publikováno v:
European journal of clinical pharmacology. 62(5)
Cytochrome P450 3A4 (CYP3A4) is involved in the metabolism of over 50% of all drugs currently in use. However, CYP3A4 expression shows a large inter-individual variation that cannot only be explained by genetic polymorphisms identified in this gene.
Autor:
Astrid J, Bosma, Britta, Weigelt, A Caro, Lambrechts, Onno J H M, Verhagen, Roelof, Pruntel, Augustinus A M, Hart, Sjoerd, Rodenhuis, Laura J, van 't Veer
Publikováno v:
Clinical cancer research : an official journal of the American Association for Cancer Research. 8(6)
We undertook a systematic approach to identify breast cancer (BC) marker genes with molecular assays and evaluated these marker genes for the detection of minimal residual disease in peripheral blood mononuclear cells (PBMCs).We used serial analysis