Zobrazeno 1 - 10
of 339
pro vyhledávání: '"NIERMEIJER, M. F."'
Autor:
Hes, F J, Niermeijer, M F
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3848::d6a4a5d83d725330340accf372a05c92
https://biblio.vub.ac.be/vubir/een-colocolische-invaginatie-op-basis-van-mutyhgeassocieerde-polyposis-coli-bij-een-jongen-van-14-jaar(1ce4e866-b38a-4a99-a9d6-5f483c8c0cde).html
https://biblio.vub.ac.be/vubir/een-colocolische-invaginatie-op-basis-van-mutyhgeassocieerde-polyposis-coli-bij-een-jongen-van-14-jaar(1ce4e866-b38a-4a99-a9d6-5f483c8c0cde).html
Autor:
Bruin, J. H. F. M., Nagengast, F. M., Ligtenberg, M. J. L., Krieken, J. H. J. M., Niermeijer, M. F., nicoline hoogerbrugge
Publikováno v:
Nederlands Tijdschrift voor Geneeskunde, 148, 2053-7
Nederlands Tijdschrift voor Geneeskunde, 148, 42, pp. 2053-7
ResearcherID
Nederlands Tijdschrift voor Geneeskunde, 148, 42, pp. 2053-7
ResearcherID
Contains fulltext : 58934.pdf (Publisher’s version ) (Closed access) In 3 patients, 2 men aged 46 and 51 years and a woman aged 54 years, with colorectal cancer there was insufficient information on the basis of the family history to diagnose 'here
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::10aa29408be8d7eaaf5f0589448ab3d6
http://hdl.handle.net/2066/58934
http://hdl.handle.net/2066/58934
Autor:
Lodder, L. N., Frets, P. G., Trijsburg, R. W., Meijers-Heijboer, E. J., Klijn, J. G., Duivenvoorden, H. J., Tibben, A., Wagner, A., van der Meer, C. A., Devilee, P., Cornelisse, C. J., Niermeijer, M. F.
Publikováno v:
Journal of medical genetics, 36(12), 906-913. BMJ Publishing Group
Presymptomatic DNA testing for autosomal dominant hereditary breast/ovarian cancer (HBOC) became an option after the identification of the BRCA1 and BRCA2 genes in 1994-1995. Healthy female mutation carriers have a high lifetime risk for breast cance
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c2961be7bdf92b740aefb9fd53c81ba3
https://pure.amc.nl/en/publications/presymptomatic-testing-for-brca1-and-brca2-how-distressing-are-the-pretest-weeks-rotterdamleiden-genetics-working-group(6f7fc7c0-40e5-4f9e-b280-16a5fc4dd517).html
https://pure.amc.nl/en/publications/presymptomatic-testing-for-brca1-and-brca2-how-distressing-are-the-pretest-weeks-rotterdamleiden-genetics-working-group(6f7fc7c0-40e5-4f9e-b280-16a5fc4dd517).html
The fragile X syndrome is characterised by mental retardation, behavioural features, and physical features, such as a long face with large protruding ears and macro-orchidism. In 1991, after identification of the fragile X mental retardation (FMR1) g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e5c81e34a4da6cb89099c40fcd4efec4
https://europepmc.org/articles/PMC1051369/
https://europepmc.org/articles/PMC1051369/
Autor:
Dudok-de Wit, A. C., Tibben, A., Duivenvoorden, H. J., Niermeijer, M. F., Passchier, J., Trijsburg, R. W., Lindhout, D., Meijers-Heijboer, E. J., Frets, P. G., Lodder, L. N., Zoetewij, M. W., Klijn, J. G. M., Brocker-Vriends, A., van Haeringen, A., Helderman, A. T. J. M., Hilhorst-Hofstee, Y., Kant, S., Maat-Kievit, J. A., Oosterwijk, J. C., van der Smagt, J. J., Vegter-van der Vlis, M., Vries-van der Weerd, M. A. C. S., Zoeteweij, M. W., Bakker, E., Devilee, P., Losekoot, M., Tops, C., Cornelisse, C. J., Vasen, H. F. A.
Publikováno v:
American Journal of Medical Genetics, 75, 62-74. Wiley-Liss Inc.
American journal of medical genetics, 75(1), 62-74. Wiley-Liss Inc.
American journal of medical genetics, 75(1), 62-74. Wiley-Liss Inc.
In 50% risk carriers for Huntington disease (n = 41), hereditary cerebral hemorrhage with amyloidosis Dutch-type (n = 9) familial adenomatous polyposis coli (n = 45) and hereditary breast and ovarian cancer (n = 24), pretest intrusion and avoidance (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52df4e5fa6479e9885bb2d3e2c818148
https://pure.eur.nl/en/publications/d2fcc5d3-bf67-4a14-9ffd-752793c90a45
https://pure.eur.nl/en/publications/d2fcc5d3-bf67-4a14-9ffd-752793c90a45
Publikováno v:
Journal of Medical Genetics, 35, 745-754. BMJ Publishing Group
JOURNAL OF MEDICAL GENETICS, 35(9), 745-754. BMJ PUBLISHING GROUP
JOURNAL OF MEDICAL GENETICS, 35(9), 745-754. BMJ PUBLISHING GROUP
The first comparative study on predicting post-test distress (conceptualised by intrusion and avoidance, measured with the Impact of Event Scale) after presymptomatic genetic testing for Huntington's disease (HD, n = 25), cancer syndromes (familial a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bfbe6bdd48abf82906d59df227791ada
https://pure.eur.nl/en/publications/0a2e969c-fe4c-4976-a98e-b4e06e0db778
https://pure.eur.nl/en/publications/0a2e969c-fe4c-4976-a98e-b4e06e0db778
Autor:
de Vries, B B, van den Ouweland, A M, Mohkamsing, S, Duivenvoorden, H J, Mol, E, Gelsema, K, van Rijn, M, Halley, D J, Sandkuijl, L A, Oostra, B A, Tibben, A, Niermeijer, M F
The fragile X syndrome is an X-linked mental retardation disorder caused by an expanded CGG repeat in the first exon of the fragile X mental retardation (FMR1) gene. Its frequency, X-linked inheritance, and consequences for relatives all prompt for d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6765f5e57e4b28be14932a04874417d5
https://europepmc.org/articles/PMC1715962/
https://europepmc.org/articles/PMC1715962/
Autor:
Dudokdewit, A. C., Tibben, A., Duivenvoorden, H. J., Frets, P. G., Zoeteweij, M. W., Losekoot, M., Haeringen, A., Niermeijer, M. F., Passchier, J., Dick Lindhout, Meijers-Heijboer, E. J., Lodder, L. N., Trijsburg, R. W., Klijn, J. G. M., Bröcker-Vriends, A., Helderman, A. T. J. M., Hilhorst-Hofstee, Y., Kant, S., Maat-Kievit, J. A., Oosterwijk, J. C., Smagt, J. J., Vegter-Van Vlis, M., Vries-Van Weerd, M. -A C. S., Bakker, E., Cornelisse, C. J., Devilee, P., Tops, C., Vasen, H. F. A.
Publikováno v:
JOURNAL OF MEDICAL GENETICS, 34(5), 382-390. BMJ PUBLISHING GROUP
Scopus-Elsevier
Scopus-Elsevier
In a comparative study on the effects of predictive DNA testing for late onset disorders, pre-test psychological distress was assessed in people at risk for Huntington's disease (HD, n=41), cerebral haemorrhage (HCHWA-D, n=9), breast and ovarian canc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::cd0d4932926fd49d7ff2752b8fb527ec
https://research.rug.nl/en/publications/5d645203-f89f-4d25-b796-fcc578ef7fdd
https://research.rug.nl/en/publications/5d645203-f89f-4d25-b796-fcc578ef7fdd
Autor:
de Vries, B. B., Wiegers, A. M., Smits, A. P., Mohkamsing, S., Duivenvoorden, H. J., Fryns, J. P., Curfs, L. M., Halley, D. J., Oostra, B. A., van den Ouweland, A. M., Niermeijer, M. F.
The cloning of the FMR1 gene enables molecular diagnosis in patients and in carriers (male and female) of this X-linked mental retardation disorder. Unlike most X-linked disorders, a considerable proportion of the female carriers of a full mutation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b64cb900d5ea81a2b55728866ef42a21
https://europepmc.org/articles/PMC1914633/
https://europepmc.org/articles/PMC1914633/