Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Gjb van Ommen"'
Publikováno v:
The Lancet. 354:S5-S10
The Human Genome Project, the mapping of our 30 00–50 000 genes and the sequencing of all of our DNA, will have major impact on biomedical research and the whole of therapeutic and preventive health care. The tracing of genetic diseases to their mo
Autor:
M. Bout, Fbl Hogervorst, Peter Devilee, Bert Bakker, Jan C. Oosterwijk, Renske Olmer, H Meijers Heijboer, Jgm Klijn, J.T. den Dunnen, H. F. A. Vasen, Gjb van Ommen, Fred H. Menko, Cees J. Cornelisse, R.S. Cornelis, M. van Vliet
Publikováno v:
Nature Genetics, 10(2), 208-212. Nature Publishing Group
ResearcherID
Nature genetics, 10(2), 208-212. Nature Publishing Group
ResearcherID
Nature genetics, 10(2), 208-212. Nature Publishing Group
textabstractMore than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PIT) to screen for mutations in exon 11, which encodes 61 % of BRCA1.
Autor:
Renée X. de Menezes, Gjej Hooiveld, J.T. den Dunnen, M. van Iterson, Gjb van Ommen, Judith M. Boer, Pac 't Hoen, P Pedotti
Publikováno v:
BMC Genomics, 10
BMC Genomics, Vol 10, Iss 1, p 439 (2009)
BMC Genomics, 10. BioMed Central
van Iterson, M, 't Hoen, P A C, Pedotti, P, Hooiveld, G J E J, den Dunnen, J T, van Ommen, G J B, Boer, J M & Menezes, R X 2009, ' Relative power and sample size analysis on gene expression profiling data ', BMC Genomics, vol. 10 . https://doi.org/10.1186/1471-2164-10-439
BMC Genomics
BMC Genomics 10 (2009)
BMC Genomics, Vol 10, Iss 1, p 439 (2009)
BMC Genomics, 10. BioMed Central
van Iterson, M, 't Hoen, P A C, Pedotti, P, Hooiveld, G J E J, den Dunnen, J T, van Ommen, G J B, Boer, J M & Menezes, R X 2009, ' Relative power and sample size analysis on gene expression profiling data ', BMC Genomics, vol. 10 . https://doi.org/10.1186/1471-2164-10-439
BMC Genomics
BMC Genomics 10 (2009)
Background With the increasing number of expression profiling technologies, researchers today are confronted with choosing the technology that has sufficient power with minimal sample size, in order to reduce cost and time. These depend on data varia
Autor:
H. H. H. Kanhai, Wilma E. Mesker, Jan C. Oosterwijk, C.F.H.M. Knepflé, Gjb van Ommen, M.C.M. Ouwerkerk v-Velzen, J. Vrolijk, C.C. Wiesmeyer, Hans J. Tanke
Publikováno v:
Early Human Development, 47, S89-S93. ELSEVIER IRELAND LTD
This paper describes the use of automated microscopy to detect fetal erythroblasts in maternal blood. The technology is based on the following approach: (1) the use of centrifugal cytology for the preparation of monolayers; (2) simultaneous staining
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da568ef42c6749c6341d1cd4cd811467
https://research.rug.nl/en/publications/88748fbc-70cd-4d4d-bb98-176f1a806dd0
https://research.rug.nl/en/publications/88748fbc-70cd-4d4d-bb98-176f1a806dd0
Autor:
Annemieke Aartsma-Rus, Gjb van Ommen, Sam Mulders, J.T. den Dunnen, Melvin M. Evers, Hoang-Dai Tran, Wmc van Roon-Mom, Jct van Deutekom
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A52.1-A52
There has been a recent surge in research using antisense oligonucleotides (AONs) to reduce huntingtin transcript levels and thus huntingtin protein levels both in vitro an in vivo. This can be done in a non-allele specific manner by targeting both m
Autor:
Melvin M. Evers, L Zalachoras, Wmc van Roon-Mom, Annemieke Aartsma-Rus, Onno C. Meijer, J.T. den Dunnen, H-D Tran, Gjb van Ommen
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A52.3-A53
Background Several studies have implicated the importance of proteolytic cleavage of mutant huntingtin in HD pathogenesis (Thornberry et al 1997). Huntingtin fragments within the striatum of human HD brains clearly differ from those of control brains
Autor:
J.T. den Dunnen, Gjb van Ommen, R.C. van der Mast, E. van Duijn, Pac 't Hoen, Anastasios Mastrokolias, Wmc van Roon-Mom
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A22.1-A22
Background The robustness and reproducibility of next generation sequencing technologies make them an excellent platform for gene expression profiling experiments. Despite the fact that the choice of tissue for RNA extraction and sequencing greatly d
Autor:
J.T. den Dunnen, PB Hoen, Wmc van Roon-Mom, Barry A. Pepers, Gjb van Ommen, Anastasios Mastrokolias
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A10.2-A10
Background Trinucleotide repeat expansion is the cause of at least 25 inherited neurological disorders, including Huntington9s disease (HD), fragile X mental retardation, and myotonic dystrophy (DM1). An interesting feature of repeat expansion mutati
Autor:
Stefano Patassini, Jocelyn Y. Bullock, J.T. den Dunnen, Menno H. Schut, R Faull, Henry J. Waldvogel, Eric H. Kim, Gjb van Ommen, Wmc van Roon-Mom, Barry A. Pepers
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 83:A7.3-A8
Huntington9s disease (HD) is an autosomal dominant neurodegenerative disease caused by elongation of a CAG-repeat within the first exon of the huntingtin gene. This mutation leads to a toxic gain-of-function of the huntingtin protein (htt). The exact