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Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies

dc.contributor.authorSouthgate, Len_US
dc.contributor.authorSukalo, Men_US
dc.contributor.authorKarountzos, ASVen_US
dc.contributor.authorTaylor, EJen_US
dc.contributor.authorCollinson, CSen_US
dc.contributor.authorRuddy, Den_US
dc.contributor.authorSnape, KMen_US
dc.contributor.authorDallapiccola, Ben_US
dc.contributor.authorTolmie, JLen_US
dc.contributor.authorJoss, Sen_US
dc.contributor.authorBrancati, Fen_US
dc.contributor.authorDigilio, MCen_US
dc.contributor.authorGraul-Neumann, LMen_US
dc.contributor.authorSalviati, Len_US
dc.contributor.authorCoerdt, Wen_US
dc.contributor.authorJacquemin, Een_US
dc.contributor.authorWuyts, Wen_US
dc.contributor.authorZenker, Men_US
dc.contributor.authorMachado, RDen_US
dc.contributor.authorTrembath, RCen_US
dc.date.accessioned2016-03-21T10:26:44Z
dc.date.accessioned2017-02-09T11:33:28Z
dc.date.available2015-05-01en_US
dc.date.issued2015-08en_US
dc.date.submitted2017-02-09T11:32:19.997Z
dc.identifier.issn1942-325Xen_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/19300
dc.description.sponsorshipThis work was supported by the British Heart Foundation [RG/08/006/25302 to R.C.T.], the German Research Foundation [DFG; ZE 524/2-3 to M.Z.] and a Wellcome Trust Strategic Award [102627/Z/13/Z to R.C.T.]. A.S.V.K. is the recipient of a PrimerDesign Gold level student sponsorship. E.J.T. is a Royal Society University Research Fellow. R.C.T. held a Senior Investigator Award from the NIHR.en_US
dc.format.extent572 - 581en_US
dc.relation.ispartofCIRCULATION-CARDIOVASCULAR GENETICSen_US
dc.relation.replaceshttp://qmro.qmul.ac.uk/xmlui/handle/123456789/11532
dc.relation.replaces123456789/11532
dc.subjectAdams-Oliver syndromeen_US
dc.subjectgeneticsen_US
dc.subjecthaploinsufficiencyen_US
dc.subjectheart defectsen_US
dc.subjectcongenitalen_US
dc.subjectreceptoren_US
dc.subjectNOTCH1en_US
dc.titleHaploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomaliesen_US
dc.typeArticle
dc.rights.holderCopyright © 2015 American Heart Association, Inc. All rights reserved.
dc.identifier.doi10.1161/CIRCGENETICS.115.001086en_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000360305600006&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.issue4en_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume8en_US


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