Show simple item record

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

dc.contributor.authorIacovazzo, Den_US
dc.contributor.authorCaswell, Ren_US
dc.contributor.authorBunce, Ben_US
dc.contributor.authorJose, Sen_US
dc.contributor.authorYuan, Ben_US
dc.contributor.authorHernandez-Ramirez, LCen_US
dc.contributor.authorKapur, Sen_US
dc.contributor.authorCaimari, Fen_US
dc.contributor.authorEvanson, Jen_US
dc.contributor.authorFerrau, Fen_US
dc.contributor.authorDang, MNen_US
dc.contributor.authorGabrovska, Pen_US
dc.contributor.authorLarkin, SJen_US
dc.contributor.authorAnsorge, Oen_US
dc.contributor.authorRodd, Cen_US
dc.contributor.authorVance, MLen_US
dc.contributor.authorRamirez-Renteria, Cen_US
dc.contributor.authorMercado, Men_US
dc.contributor.authorGoldstone, APen_US
dc.contributor.authorBuchfelder, Men_US
dc.contributor.authorBurren, CPen_US
dc.contributor.authorGurlek, Aen_US
dc.contributor.authorDutta, Pen_US
dc.contributor.authorChoong, CSen_US
dc.contributor.authorCheetham, Ten_US
dc.contributor.authorTrivellin, Gen_US
dc.contributor.authorStratakis, CAen_US
dc.contributor.authorLopes, M-Ben_US
dc.contributor.authorGrossman, ABen_US
dc.contributor.authorTrouillas, Jen_US
dc.contributor.authorLupski, JRen_US
dc.contributor.authorEllard, Sen_US
dc.contributor.authorSampson, JRen_US
dc.contributor.authorRoncaroli, Fen_US
dc.contributor.authorKorbonits, Men_US
dc.date.accessioned2017-05-12T11:07:03Z
dc.date.available2016-02-09en_US
dc.date.issued2016-06-01en_US
dc.date.submitted2017-02-14T18:29:20.910Z
dc.identifier.issn2051-5960en_US
dc.identifier.otherUNSP 56en_US
dc.identifier.otherUNSP 56en_US
dc.identifier.otherUNSP 56en_US
dc.identifier.otherUNSP 56en_US
dc.identifier.otherUNSP 56en_US
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/23056
dc.description.sponsorshipGrant support from the Medical Research Council of the UK (MRC), Wellcome Trust, National Institute of Health Research (NIHR), Barts and The London Charity, Royal Society, Fundación Alfonso Martín Escudero, DST-UKIERI, Wales Gene Park and Pfizer Ltd is gratefully acknowledged. This work was also supported in part by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health & Human Development, Bethesda, MD (to GT and CAS), the US National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/, R01NS058529 to JRL), by the US National Human Genome Research Institute (NHGRI)/National Heart Lung and Blood Institute (NHLBI) (grant number U54HG006542 to the Baylor-Hopkins Center for Mendelian Genomics, BHCMG) and by the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre based at Oxford University Hospitals NHS Trust and University of Oxford. We also acknowledge the Oxford Brain Bank, supported by the Medical Research Council (MRC) and Brains for Dementia Research (BDR).en_US
dc.relation.ispartofACTA NEUROPATHOLOGICA COMMUNICATIONSen_US
dc.rightsThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
dc.subjectXLAGen_US
dc.subjectGigantismen_US
dc.subjectGPR101en_US
dc.subjectCNV mutationen_US
dc.subjectPituitaryen_US
dc.titleGermline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic studyen_US
dc.typeArticle
dc.rights.holder© The Author(s). 2016
dc.identifier.doi10.1186/s40478-016-0328-1en_US
pubs.author-urlhttp://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000376718800001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=612ae0d773dcbdba3046f6df545e9f6aen_US
pubs.notesNot knownen_US
pubs.publication-statusPublisheden_US
pubs.volume4en_US


Files in this item

Thumbnail
Name:
Iacovazzo Germline or somatic ...
Size:
3.443Mb
Format:
application/
Description:
Published version
View/Open

This item appears in the following Collection(s)

Show simple item record