Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.

2.50
Hdl Handle:
http://hdl.handle.net/11287/618120
Title:
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.
Authors:
Demirbilek, H.; Arya, Ved B.; Ozbek, M.N.; Houghton, J. A. L.; Baran, R.T.; Akar, M.; Tekes, S.; Tuzun, H.; Mackay, D. J.; Flanagan, Sarah; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hussain, K.
Abstract:
Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey.
Citation:
Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. 2015, 172 (6):697-705 Eur. J. Endocrinol.
Publisher:
European Society of Endocrinology
Journal:
European journal of endocrinology / European Federation of Endocrine Societies
Issue Date:
Jun-2015
URI:
http://hdl.handle.net/11287/618120
DOI:
10.1530/EJE-14-0852
PubMed ID:
25755231
Additional Links:
http://www.eje-online.org/cgi/pmidlookup?view=long&pmid=25755231
Note:
This article is freely available, click on the 'Additional Link' above to access the full text.
Type:
Journal Article; Research Support, Non-U.S. Gov't
Language:
en
ISSN:
1479-683X
Appears in Collections:
2015 RD&E publications; Diabetes/Endocrine Services; Molecular Genetics; Honorary contracts publications

Full metadata record

DC FieldValue Language
dc.contributor.authorDemirbilek, H.en
dc.contributor.authorArya, Ved B.en
dc.contributor.authorOzbek, M.N.en
dc.contributor.authorHoughton, J. A. L.en
dc.contributor.authorBaran, R.T.en
dc.contributor.authorAkar, M.en
dc.contributor.authorTekes, S.en
dc.contributor.authorTuzun, H.en
dc.contributor.authorMackay, D. J.en
dc.contributor.authorFlanagan, Sarahen
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHussain, K.en
dc.date.accessioned2016-08-09T13:23:14Z-
dc.date.available2016-08-09T13:23:14Z-
dc.date.issued2015-06-
dc.identifier.citationClinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations. 2015, 172 (6):697-705 Eur. J. Endocrinol.en
dc.identifier.issn1479-683X-
dc.identifier.pmid25755231-
dc.identifier.doi10.1530/EJE-14-0852-
dc.identifier.urihttp://hdl.handle.net/11287/618120-
dc.description.abstractNeonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey.en
dc.language.isoenen
dc.publisherEuropean Society of Endocrinologyen
dc.relation.urlhttp://www.eje-online.org/cgi/pmidlookup?view=long&pmid=25755231en
dc.rightsArchived with thanks to European journal of endocrinology / European Federation of Endocrine Societiesen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleClinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-KATP channel mutations.en
dc.typeJournal Articleen
dc.typeResearch Support, Non-U.S. Gov'ten
dc.identifier.journalEuropean journal of endocrinology / European Federation of Endocrine Societiesen
dc.description.noteThis article is freely available, click on the 'Additional Link' above to access the full text.en
dc.description.funding098395/Wellcome Trust/United Kingdom MR/M023265/1/Medical Research Council/United Kingdom Wellcome Trust/United Kingdomen
dc.type.versionPublisheden

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