Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620414
Title:
Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.
Authors:
De Franco, E; Caswell, R; Houghton, J A L; Iotova, V; Hattersley, Andrew T.; Ellard, Sian ( 0000-0002-7620-5526 )
Abstract:
An early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic testing for a fetus at risk of inheriting a paternal KCNJ11 p.R201C mutation causing permanent neonatal diabetes.
Citation:
Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. 2017, 34 (4):582-585 Diabet. Med.
Publisher:
Wiley
Journal:
Diabetic medicine : a journal of the British Diabetic Association
Issue Date:
Apr-2017
URI:
http://hdl.handle.net/11287/620414
DOI:
10.1111/dme.13180
PubMed ID:
27477181
Additional Links:
https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27477181/
Note:
This article is freely available via PubMed Central. Click on the Additional Link above to access the full-text.
Type:
Journal Article
Language:
en
ISSN:
1464-5491
Appears in Collections:
Diabetes/Endocrine Services; Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorDe Franco, Een
dc.contributor.authorCaswell, Ren
dc.contributor.authorHoughton, J A Len
dc.contributor.authorIotova, Ven
dc.contributor.authorHattersley, Andrew T.en
dc.contributor.authorEllard, Sianen
dc.date.accessioned2017-10-04T11:57:01Z-
dc.date.available2017-10-04T11:57:01Z-
dc.date.issued2017-04-
dc.identifier.citationAnalysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes. 2017, 34 (4):582-585 Diabet. Med.en
dc.identifier.issn1464-5491-
dc.identifier.pmid27477181-
dc.identifier.doi10.1111/dme.13180-
dc.identifier.urihttp://hdl.handle.net/11287/620414-
dc.description.abstractAn early genetic diagnosis of neonatal diabetes guides clinical management and results in improved treatment in ~ 40% of patients. In the offspring of individuals with neonatal diabetes, a prenatal diagnosis allows accurate estimation of the risk of developing diabetes and, eventually, the most appropriate treatment for the baby. In this study, we performed non-invasive prenatal genetic testing for a fetus at risk of inheriting a paternal KCNJ11 p.R201C mutation causing permanent neonatal diabetes.en
dc.language.isoenen
dc.publisherWileyen
dc.relation.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27477181/en
dc.rightsArchived with thanks to Diabetic medicine : a journal of the British Diabetic Associationen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleAnalysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes.en
dc.typeJournal Articleen
dc.identifier.journalDiabetic medicine : a journal of the British Diabetic Associationen
dc.description.noteThis article is freely available via PubMed Central. Click on the Additional Link above to access the full-text.en
dc.type.versionPublisheden

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