Zobrazeno 1 - 10
of 95
pro vyhledávání: '"AH van der Hout"'
Autor:
S Gloudemans, Nicoline Hoogerbrugge, Jan C. Oosterwijk, Danielle Bodmer, K Ansink, AH van der Hout, M.J.L. Ligtenberg
Publikováno v:
British Journal of Cancer
British Journal of Cancer, 95, 6, pp. 757-62
British Journal of Cancer, 95, 757-62
British Jounal of Cancer, 95(6), 757-762. Nature Publishing Group
British Journal of Cancer, 95, 6, pp. 757-62
British Journal of Cancer, 95, 757-62
British Jounal of Cancer, 95(6), 757-762. Nature Publishing Group
Contains fulltext : 49625.pdf (Publisher’s version ) (Closed access) To establish an efficient, reliable and easy to apply risk assessment tool to select families with breast and/or ovarian cancer patients for BRCA mutation testing, using available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c91cb990bb38281963a634238ccc915
http://europepmc.org/articles/PMC2360521
http://europepmc.org/articles/PMC2360521
Autor:
AH van der Hout, A. J. Van Assen-Bolt, Harm H. Kampinga, B. Nieuwenhuis, T. Bauch, Rolf H. Sijmons, C. Streffer, M. A. W. H. Van Waarde-Verhagen
Publikováno v:
International Journal of Radiation Biology, 78(4), 285-295
Purpose: Up to 90% of hereditary breast cancer cases are linked to germ-line mutations in one of the two copies of the BRCA1 or BRCA2 genes. Brca1 and Brca2 proteins are both involved in the cellular defence against DNA damage, although the precise f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4776a2ebb83b7300cdb8e71d040190d0
https://hdl.handle.net/11370/759fd206-8182-4001-968c-56e81999bc41
https://hdl.handle.net/11370/759fd206-8182-4001-968c-56e81999bc41
Autor:
AH van der Hout, Djm Peters, JG Dauwerse, MH Breuning, G Kolsters, Katelijne Bouman, van Ton Essen
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 39(2), 136-141. BMJ PUBLISHING GROUP
The acrofacial dysostoses (AFD) are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and receding chin (retrognathia) combi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972d5fe6d027ad3357852514717bb9c3
https://doi.org/10.1136/jmg.39.2.136
https://doi.org/10.1136/jmg.39.2.136
Autor:
K Jülicher, Charles H.C.M. Buys, Bertram Opalka, Susanne C. Michaelis, C. Willers, Frank Bröcker, AH van der Hout, Andreas Lux, R. Siebert, Walter Bardenheuer, David I. Smith, Lydia Vieten, Jochen Schütte
Publikováno v:
Genome Research, 6(3), 176-186. COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT
Chromosomal deletions and translocations of human chromosome region 3p14 are observed in various human malignancies and suggest the existence of a tumor suppressor gene locus within this region. Tumors most frequently affected by these aberrations ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6768eeacd183007df6de0ace11c89685
https://doi.org/10.1101/gr.6.3.176
https://doi.org/10.1101/gr.6.3.176
Publikováno v:
Cytogenetics and cell genetics, 70(1-2), 134-137
Heavy methylation of restriction sites in the relevant chromosomal region can be a major problem in the construction of a long-range restriction map. In the region around the locus D3S3 there appeared to be few accessible restriction sites. Therefore
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d1c204baf955e83745a29599072c7f6
https://doi.org/10.1159/000134078
https://doi.org/10.1159/000134078
Autor:
A. Dam, Trijnie Dijkhuizen, H. J. A. Mensink, E. van den Berg, Jw Oosterhuis, Charles H.C.M. Buys, H. M. M. Zweers, S. Störkel, AH van der Hout, B. de Jong
Publikováno v:
International Journal of Cancer, 55(2), 223-227. Wiley
Renal-cell carcinomas (RCC) are clinically, histologically and cytogenetically very heterogeneous. The present histological WHO classification shows no clear correlation between histologic subtypes and specific chromosomal abnormalities. In 1986, a n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0187fc585a41a70fb05576864d37ba92
https://doi.org/10.1002/ijc.2910550210
https://doi.org/10.1002/ijc.2910550210
Autor:
S. Störkel, Jw Oosterhuis, B. de Jong, Trijnie Dijkhuizen, P. van der Vlies, AH van der Hout, E. van den Berg, Chcm Buys
Publikováno v:
International Journal of Cancer, 53(3), 353-357. Wiley
A majority of renal-cell tumours retain heterozygosity at the short arm of chromosome 3. To investigate possible histopathological differences between tumours with and without such losses, we compared loss of heterozygosity data from 51 tumours with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d612f92e97d746fdc004a892aad5bbf
https://doi.org/10.1002/ijc.2910530302
https://doi.org/10.1002/ijc.2910530302
Autor:
Anne Dørum, Lovise Mæhle, Eivind Hovig, Ketil Heimdal, Hans Scheffer, Peter Möller, Charles H.C.M. Buys, M. A. Van Der Meulen, E. J. Kamsteeg, Claes G. Tropé, AH van der Hout, Melvin D. Burton, G. J. Te Meerman
Publikováno v:
European Journal of Cancer, 33(14), 2390-2392. ELSEVIER SCI LTD
We searched for a founder mutation in a population from one geographic region of Norway with prevalent breast/ovarian cancer families. We sampled 33 breast/ovarian cancer families and determined haplotypes of four markers linked to the BRCA1 region.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cb1a1d0c339be6bd43439b7d93742e9
https://doi.org/10.1016/s0959-8049(97)00328-6
https://doi.org/10.1016/s0959-8049(97)00328-6
Autor:
Peelen, T., Vliet, M., Petrij-Bosch, A., Mieremet, R., Szabo, C., Den Ouweland, A. M., Hogervorst, F., Brohet, R., Ligtenberg, M. J., Erik Teugels, Luijt, R., Ah Van Der Hout, Gille, J. J., Pals, G., Jedema, I., Olmer, R., Leeuwen, I., Newman, B., Plandsoen, M., Est, M., Brink, G., Hageman, S., Arts, P. J., Bakker, M. M., Bart Neyns, Devilee, P., Jacques De Greve, Mary-Louise Bonduelle
Publikováno v:
Vrije Universiteit Brussel
We have identified 79 mutations in BRCA1 in a set of 643 Dutch and 23 Belgian hereditary breast and ovarian cancer families collected either for research or for clinical diagnostic purposes. Twenty-eight distinct mutations have been observed, 18 of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a8972d744788cbf12683a0bd93d9439c
https://hdl.handle.net/20.500.14017/6975b232-321e-4208-8772-5de4729ff212
https://hdl.handle.net/20.500.14017/6975b232-321e-4208-8772-5de4729ff212
Autor:
I. B. Ginjaar, G.J.B. van Ommen, Charles H.C.M. Buys, AH van der Hout, Egbert Bakker, L.P. ten Kate, A. J. van Essen, A. L. J. Kneppers, Hans Scheffer
Publikováno v:
van Essen, A J, Kneppers, A L J, van der Hout, A H, Scheffer, H, Ginjaarl, B, ten Kate, L P, Ommen, G J B, Buys, C H C M & Bakker, E 1997, ' The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol ', Journal of Medical Genetics, vol. 34, pp. 805-812 . https://doi.org/10.1136/jmg.34.10.805
Journal of Medical Genetics, 34, 805-812. BMJ Publishing Group
Journal of Medical Genetics, 34, 805-812. BMJ Publishing Group
Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b932eec1e0a0fd8e2a4ff84a27a3cb4
https://research.vumc.nl/ws/files/10006605/115420
https://research.vumc.nl/ws/files/10006605/115420