Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618112
Title:
Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing.
Authors:
Clissold, Rhian L. ( 0000-0002-3090-3492 ) ; Shields, Beverley; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.; Bingham, Coralie
Abstract:
Diagnosing 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.
Citation:
Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. 2015, 130 (2):134-40 Nephron
Publisher:
Karger
Journal:
Nephron
Issue Date:
22-May-2015
URI:
http://hdl.handle.net/11287/618112
DOI:
10.1159/000398819
PubMed ID:
26022541
Additional Links:
http://www.karger.com/?DOI=10.1159/000398819
Note:
This article is freely available from the publisher's site - click on the 'Additional Link' above to access the full text.
Type:
Journal Article; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
2235-3186
Appears in Collections:
2015 RD&E publications; Exeter Kidney Unit (Renal); Diabetes/Endocrine Services; Honorary contracts publications

Full metadata record

DC FieldValue Language
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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