Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1-Reference-Cited by-同舟云学术

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Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

Published:2018-03-27 Issue:5 Volume:19 Page:898-904
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Demirbilek Huseyin¹^ORCID,Hatipoglu Nihal²,Gul Ulku²,Tatli Zeynep U²,Ellard Sian³,Flanagan Sarah E³^ORCID,De Franco Elisa³,Kurtoglu Selim²

Affiliation:

1. Department of Paediatric Endocrinology; Hacettepe University Medical Faculty; Ankara Turkey

2. Department of Paediatric Endocrinology; Erciyes University Medical Faculty; Kayseri Turkey

3. Department of Molecular Genetics; Institute of Biomedical and Clinical Science, University of Exeter Medical School; Exeter UK

Funder

Royal Society

Wellcome Trust

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12669/fullpdf

Reference28 articles.

1. 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;Demirbilek;Eur J Endocrinol,2015

2. Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options;Rubio-Cabezas;Horm Res Paediatr,2013

3. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study;De Franco;Lancet,2015

4. ISPAD Clinical Practice Consensus Guidelines 2014. The diagnosis and management of monogenic diabetes in children and adolescents;Rubio-Cabezas;Pediatr Diabetes,2014

5. Pancreas and beta-cell development: from the actual to the possible;Murtaugh;Development,2007

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel nonsense mutation c.747C>G in the NEUROD1 gene detected within a Chinese family affected by maturity‐onset diabetes of the young type 6;Journal of Diabetes;2024-09

2. MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants;International Journal of Molecular Sciences;2024-08-13

3. Alterations in NeuroD1. Infrequent cause of infantile and juvenile diabetes;Endocrinología, Diabetes y Nutrición (English ed.);2023-06

4. From glucose sensing to exocytosis: takes from maturity onset diabetes of the young;Frontiers in Endocrinology;2023-05-15

5. Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity;Reviews in Endocrine and Metabolic Disorders;2023-05-11

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