Zobrazeno 1 - 10 of 69 pro vyhledávání: '"S. Buitendijk"'
1
Akademický článek
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.
Autor: Maheswara R Duvvari, Codrut C Paun, Gabriëlle H S Buitendijk, Nicole T M Saksens, Elena B Volokhina, Tina Ristau, Frederieke E Schoenmaker-Koller, Johannes P H van de Ven, Joannes M M Groenewoud, Lambertus P W J van den Heuvel, Albert Hofman, Sascha Fauser, André G Uitterlinden, Caroline C W Klaver, Carel B Hoyng, Eiko K de Jong, Anneke I den Hollander
Publikováno v: PLoS ONE, Vol 9, Iss 4, p e94165 (2014)
Age-related macular degeneration (AMD) is a progressive retinal disorder affecting over 33 million people worldwide. Genome-wide association studies (GWASs) for AMD identified common variants at 19 loci accounting for 15-65% of the heritability and i
Externí odkaz: https://doaj.org/article/195db82bfe884c57936a5cceeb697ab7
Zobrazit plný text záznamu
3
Akademický článek
Functional gene-expression analysis shows involvement of schizophrenia-relevant pathways in patients with 22q11 deletion syndrome.
Autor: Nico J M van Beveren, Lianne C Krab, Sigrid Swagemakers, Gabriëlle H S Buitendijk, Erik Boot, Peter van der Spek, Ype Elgersma, Therese A M J van Amelsvoort
Publikováno v: PLoS ONE, Vol 7, Iss 3, p e33473 (2012)
22q11 Deletion Syndrome (22q11DS) is associated with dysmorphology and a high prevalence of schizophrenia-like symptoms. Several genes located on chromosome 22q11 have been linked to schizophrenia. The deletion is thought to disrupt the expression of
Externí odkaz: https://doaj.org/article/95be85b8a07b47a38fc1fe7fba3cbf58
Zobrazit plný text záznamu
4
Akademický článek
Marked reduction of AKT1 expression and deregulation of AKT1-associated pathways in peripheral blood mononuclear cells of schizophrenia patients.
Autor: Nico J M van Beveren, Gabrielle H S Buitendijk, Sigrid Swagemakers, Lianne C Krab, Christian Röder, Lieuwe de Haan, Peter van der Spek, Ype Elgersma
Publikováno v: PLoS ONE, Vol 7, Iss 2, p e32618 (2012)
BACKGROUND: Recent studies have suggested that deregulated AKT1 signaling is associated with schizophrenia. We hypothesized that if this is indeed the case, we should observe both decreased AKT1 expression as well as deregulation of AKT1 regulated pa
Externí odkaz: https://doaj.org/article/14c19730790f4e469662fc02828b2dbb
Zobrazit plný text záznamu
7
Medical consumption compared for TIMI and HEART score in chest pain patients at the emergency department : A retrospective cost analysis
Autor: Arno W. Hoes, Barbra E. Backus, A. J. Six, Astrid Nieuwets, S Buitendijk, Johannes B. Reitsma, P. A. F. M. Doevendans, Judith M. Poldervaart
Publikováno v: BMJ open [E], 6(6). BMJ Publishing Group
BMJ Open
Objective To investigate which risk score (TIMI score or HEART score) identifies the largest population of low-risk patients at the emergency department (ED). Furthermore, we retrospectively calculated the corresponding expected decrease in medical c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adfa2048439e89079d79b8697b1b9d95
https://dspace.library.uu.nl/handle/1874/336242
Zobrazit plný text záznamu
8
Preeclampsia and its interaction with common variants in thrombophilia genes
Autor: Frans M. Helmerhorst, E. T. M. Hille, S. Buitendijk, Mieke W. J. C. Jansen, Juriy W. Wladimiroff, C.J.M. de Groot, R M Bertina, M.P.M. de Maat, Kitty W.M. Bloemenkamp, Hans L. Vos
Publikováno v: Journal of Thrombosis and Haemostatis, 9, 2, 1588-1593
Journal of thrombosis and haemostasis, 2(9), 1588-1593. Wiley-Blackwell
Journal of Thrombosis and Haemostasis, 2, 1588-1593. Wiley-Blackwell Publishing Ltd
Recently, it has been proposed that abnormalities in coagulation and fibrinolysis contribute to the development of preeclampsia by increasing the thrombotic tendency. This hypothesis was tested in women who have had preeclampsia (cases) compared with
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36dc5ac4ddc54f8ce035e64c4bc13f44
https://doi.org/10.1111/j.1538-7836.2004.00861.x
Zobrazit plný text záznamu
9
Sifting the wheat from the chaff: prioritizing GWAS results by identifying consistency across analytical methods
Autor: Christopher, Oldmeadow, Carlos, Riveros, Elizabeth G, Holliday, Rodney, Scott, Pablo, Moscato, Jie Jin, Wang, Paul, Mitchell, Gabrielle H S, Buitendijk, Johannes R, Vingerling, Caroline C W, Klaver, Ronald, Klein, John, Attia
Publikováno v: Genetic epidemiology. 35(8)
The curse of multiple testing has led to the adoption of a stringent Bonferroni threshold for declaring genome-wide statistical significance for any one SNP as standard practice. Although justified in avoiding false positives, this conservative appro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8f39c8e2fb002247679e471c833d1b14
https://pubmed.ncbi.nlm.nih.gov/22125219
Zobrazit plný text záznamu
10
[Cerebral damage due to hypoglycaemia in otherwise healthy breast-fed term infants]
Autor: S, Buitendijk, L S, de Vries, F, Groenendaal, M C, Toet
Publikováno v: Nederlands tijdschrift voor geneeskunde. 152(13)
Two healthy breast-fed term infants were admitted to the neonatal unit with symptomatic hypoglycaemia and seizures. In both patients, risk factors (i.e. hypothermia) and symptoms ofhypoglycaemia went unrecognised until apnoea or seizures developed. B
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d2c3163816efca4a99b295ec5101d849
https://pubmed.ncbi.nlm.nih.gov/19024071
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje