Sökning: WFRF:(Coutinho Jonathan M) > Debette Stephanie > Towards the genetic...
Fältnamn | Indikatorer | Metadata |
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000 | 04442naa a2200721 4500 | |
001 | oai:gup.ub.gu.se/247801 | |
003 | SwePub | |
008 | 240910s2016 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/2478012 URI |
024 | 7 | a https://doi.org/10.1136/bmjopen-2016-0123512 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Cotlarciuc, Ioana4 aut |
245 | 1 0 | a Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol. |
264 | c 2016-11-22 | |
264 | 1 | b BMJ,c 2016 |
520 | a Cerebral venous thrombosis (CVT) is a rare cerebrovascular condition accounting for <1% of all stroke cases and mainly affects young adults. Its genetic aetiology is not clearly elucidated.To better understand the genetic basis of CVT, we have established an international biobank of CVT cases, Biorepository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) which aims to recruit highly phenotyped cases initially of European descent and later from other populations. To date we have recruited 745 CVT cases from 12 research centres. As an initial step, the consortium plans to undertake a genome-wide association analysis of CVT using the Illumina Infinium HumanCoreExome BeadChip to assess the association and impact of common and low-frequency genetic variants on CVT risk by using a case-control study design. Replication will be performed to confirm putative findings. Furthermore, we aim to identify interactions of genetic variants with several environmental and comorbidity factors which will likely contribute to improve the understanding of the biological mechanisms underlying this complex disease.BEAST meets all ethical standards set by local institutional review boards for each of the participating sites. The research outcomes will be published in international peer-reviewed open-access journals with high impact and visibility. The results will be presented at national and international meetings to highlight the contributions into improving the understanding of the mechanisms underlying this uncommon but important disease. This international DNA repository will become an important resource for investigators in the field of haematological and vascular disorders. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
700 | 1 | a Marjot, Thomas4 aut |
700 | 1 | a Khan, Muhammad S4 aut |
700 | 1 | a Hiltunen, Sini4 aut |
700 | 1 | a Haapaniemi, Elena4 aut |
700 | 1 | a Metso, Tiina M4 aut |
700 | 1 | a Putaala, Jukka4 aut |
700 | 1 | a Zuurbier, Susanna M4 aut |
700 | 1 | a Brouwer, Matthijs C4 aut |
700 | 1 | a Passamonti, Serena M4 aut |
700 | 1 | a Bucciarelli, Paolo4 aut |
700 | 1 | a Pappalardo, Emanuela4 aut |
700 | 1 | a Patel, Tasmin4 aut |
700 | 1 | a Costa, Paolo4 aut |
700 | 1 | a Colombi, Marina4 aut |
700 | 1 | a Canhão, Patrícia4 aut |
700 | 1 | a Tkach, Aleksander4 aut |
700 | 1 | a Santacroce, Rosa4 aut |
700 | 1 | a Margaglione, Maurizio4 aut |
700 | 1 | a Favuzzi, Giovanni4 aut |
700 | 1 | a Grandone, Elvira4 aut |
700 | 1 | a Colaizzo, Donatella4 aut |
700 | 1 | a Spengos, Kostas4 aut |
700 | 1 | a Arauz, Antonio4 aut |
700 | 1 | a Hodge, Amanda4 aut |
700 | 1 | a Ditta, Reina4 aut |
700 | 1 | a Debette, Stephanie4 aut |
700 | 1 | a Zedde, Marialuisa4 aut |
700 | 1 | a Pare, Guillaume4 aut |
700 | 1 | a Ferro, José M4 aut |
700 | 1 | a Thijs, Vincent4 aut |
700 | 1 | a Pezzini, Alessandro4 aut |
700 | 1 | a Majersik, Jennifer J4 aut |
700 | 1 | a Martinelli, Ida4 aut |
700 | 1 | a Coutinho, Jonathan M4 aut |
700 | 1 | a Tatlisumak, Turgutu Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology4 aut0 (Swepub:gu)xtatlt |
700 | 1 | a Sharma, Pankaj4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi4 org |
773 | 0 | t BMJ opend : BMJg 6:11q 6:11x 2044-6055 |
856 | 4 | u https://bmjopen.bmj.com/content/bmjopen/6/11/e012351.full.pdf |
856 | 4 8 | u https://gup.ub.gu.se/publication/247801 |
856 | 4 8 | u https://doi.org/10.1136/bmjopen-2016-012351 |
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