The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618113
Title:
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.
Authors:
De Franco, E.; Flanagan, Sarah; Houghton, J. A. L.; Lango Allen, H.; Mackay, D. J. G.; Temple, I. K.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.
Abstract:
Traditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on sulfonylurea treatment for most patients with potassium channel mutations. We investigated the effect of early, comprehensive testing of all known genetic causes of neonatal diabetes.
Citation:
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. 2015, 386 (9997):957-63 Lancet
Publisher:
Elsevier
Journal:
Lancet
Issue Date:
5-Sep-2015
URI:
http://hdl.handle.net/11287/618113
DOI:
10.1016/S0140-6736(15)60098-8
PubMed ID:
26231457
Additional Links:
http://linkinghub.elsevier.com/retrieve/pii/S0140-6736(15)60098-8
Note:
This article is available via Open Access. Click on the 'Additional Link' above to access the full text from the publisher's site.
Type:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1474-547X
Appears in Collections:
2015 RD&E publications; Diabetes/Endocrine Services; Molecular Genetics

Full metadata record

DC FieldValue Language
dc.contributor.authorDe Franco, E.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorHoughton, J. A. L.en
dc.contributor.authorLango Allen, H.en
dc.contributor.authorMackay, D. J. G.en
dc.contributor.authorTemple, I. K.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2016-08-09T14:01:07Z-
dc.date.available2016-08-09T14:01:07Z-
dc.date.issued2015-09-05-
dc.identifier.citationThe effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study. 2015, 386 (9997):957-63 Lanceten
dc.identifier.issn1474-547X-
dc.identifier.pmid26231457-
dc.identifier.doi10.1016/S0140-6736(15)60098-8-
dc.identifier.urihttp://hdl.handle.net/11287/618113-
dc.description.abstractTraditional genetic testing focusses on analysis of one or a few genes according to clinical features; this approach is changing as improved sequencing methods enable simultaneous analysis of several genes. Neonatal diabetes is the presenting feature of many discrete clinical phenotypes defined by different genetic causes. Genetic subtype defines treatment, with improved glycaemic control on sulfonylurea treatment for most patients with potassium channel mutations. We investigated the effect of early, comprehensive testing of all known genetic causes of neonatal diabetes.en
dc.language.isoenen
dc.publisherElsevieren
dc.relation.urlhttp://linkinghub.elsevier.com/retrieve/pii/S0140-6736(15)60098-8en
dc.rightsArchived with thanks to Lancet (London, England)en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.subjectWessex Classification Subject Headings::Paediatricsen
dc.titleThe effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study.en
dc.typeJournal Articleen
dc.typeMulticenter Studyen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalLanceten
dc.description.noteThis article is available via Open Access. Click on the 'Additional Link' above to access the full text from the publisher's site.en
dc.type.versionPublisheden

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