Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia-Reference-Cited by-同舟云学术

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Partial ABCC8 gene deletion mutations causing diazoxide-unresponsive hyperinsulinaemic hypoglycaemia

Published:2011-10-07 Issue:3 Volume:13 Page:285-289
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:

Author:

Flanagan SE,Damhuis A,Banerjee I,Rokicki D,Jefferies C,Kapoor RR,Hussain K,Ellard S

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-5448.2011.00821.x/fullpdf

Reference13 articles.

1. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.;Thomas;Science,1995

2. Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.;Thomas;Hum Mol Genet,1996

3. Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.;de Lonlay;J Clin Invest,1997

4. Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography.;Otonkoski;Diabetes,2006

5. Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.;Flanagan;Hum Mutat,2009

Cited by 12 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. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements;European Journal of Human Genetics;2024-04-11

2. Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption ofFOXA2;2023-08-21

3. Congenital Hyperinsulinism: Current Laboratory-Based Approaches to the Genetic Diagnosis of a Heterogeneous Disease;Frontiers in Endocrinology;2022-07-07

4. Novel Compound Heterozygous Variants of the ABCC8 Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism;Children;2021-09-23

5. A rare case of congenital hyperinsulinism (CHI) due to dual genetic aetiology involving HNF4A and ABCC8;Journal of Pediatric Endocrinology and Metabolism;2019-02-07

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