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dc.contributor.authorClissold, Rhian L.en
dc.contributor.authorShields, Beverleyen
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorBingham, Coralieen
dc.date.accessioned2016-08-09T13:29:50Z
dc.date.available2016-08-09T13:29:50Z
dc.date.issued2015-05-22
dc.identifier.citationAssessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. 2015, 130 (2):134-40 Nephronen
dc.identifier.issn2235-3186
dc.identifier.pmid26022541
dc.identifier.doi10.1159/000398819
dc.identifier.urihttp://hdl.handle.net/11287/618112
dc.description.abstractDiagnosing hepatocyte nuclear factor 1β (HNF1B)-related disease is a challenging task due to the phenotypic variability and frequent absence of a family history. An HNF1B score has recently been developed to help select appropriate patients for genetic testing with a negative predictive value (NPV) of 99%. We aimed at testing the clinical utility of this score in a large number of referrals for HNF1B genetic testing to the UK diagnostic testing service for the HNF1B gene.en
dc.language.isoenen
dc.publisherKargeren
dc.relation.urlhttp://www.karger.com/?DOI=10.1159/000398819en
dc.rightsArchived with thanks to Nephronen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Urology::Nephrology/Renal medicineen
dc.titleAssessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.en
dc.typeJournal Articleen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalNephronen
dc.description.noteThis article is freely available from the publisher's site - click on the 'Additional Link' above to access the full text.en
dc.description.funding098395/Wellcome Trust/United Kingdom Medical Research Council/United Kingdom Wellcome Trust/United Kingdomen
dc.type.versionPublisheden


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