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Sökning: WFRF:(Bucciarelli Paolo) > Ditta Reina > Towards the genetic...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004442naa a2200721 4500
001oai:gup.ub.gu.se/247801
003SwePub
008240910s2016 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/2478012 URI
0247 a https://doi.org/10.1136/bmjopen-2016-0123512 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Cotlarciuc, Ioana4 aut
2451 0a Towards the genetic basis of cerebral venous thrombosis-the BEAST Consortium: a study protocol.
264 c 2016-11-22
264 1b 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng
7001 a Marjot, Thomas4 aut
7001 a Khan, Muhammad S4 aut
7001 a Hiltunen, Sini4 aut
7001 a Haapaniemi, Elena4 aut
7001 a Metso, Tiina M4 aut
7001 a Putaala, Jukka4 aut
7001 a Zuurbier, Susanna M4 aut
7001 a Brouwer, Matthijs C4 aut
7001 a Passamonti, Serena M4 aut
7001 a Bucciarelli, Paolo4 aut
7001 a Pappalardo, Emanuela4 aut
7001 a Patel, Tasmin4 aut
7001 a Costa, Paolo4 aut
7001 a Colombi, Marina4 aut
7001 a Canhão, Patrícia4 aut
7001 a Tkach, Aleksander4 aut
7001 a Santacroce, Rosa4 aut
7001 a Margaglione, Maurizio4 aut
7001 a Favuzzi, Giovanni4 aut
7001 a Grandone, Elvira4 aut
7001 a Colaizzo, Donatella4 aut
7001 a Spengos, Kostas4 aut
7001 a Arauz, Antonio4 aut
7001 a Hodge, Amanda4 aut
7001 a Ditta, Reina4 aut
7001 a Debette, Stephanie4 aut
7001 a Zedde, Marialuisa4 aut
7001 a Pare, Guillaume4 aut
7001 a Ferro, José M4 aut
7001 a Thijs, Vincent4 aut
7001 a Pezzini, Alessandro4 aut
7001 a Majersik, Jennifer J4 aut
7001 a Martinelli, Ida4 aut
7001 a Coutinho, Jonathan M4 aut
7001 a Tatlisumak, Turgutu Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi,Institute of Neuroscience and Physiology4 aut0 (Swepub:gu)xtatlt
7001 a Sharma, Pankaj4 aut
7102 a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi4 org
7730 t BMJ opend : BMJg 6:11q 6:11x 2044-6055
8564 u https://bmjopen.bmj.com/content/bmjopen/6/11/e012351.full.pdf
8564 8u https://gup.ub.gu.se/publication/247801
8564 8u https://doi.org/10.1136/bmjopen-2016-012351

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