Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
An Unusual Liver and Kidney Involvement in Congenital Hyperinsulinism with <italic>HNF1A</italic> Mutation: A Case Report.
Maines E et al.
Hormone Research in Paediatrics, 2025
Unraveling the genetic basis of MODY: insights from next-generation sequencing.
Eser M et al.
Journal of Applied Genetics, 2025
Congenital hyperinsulinemia and diabetes caused by ABCC8 variant in a family: a case report.
Yang P et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.
Kava H et al.
Frontiers in Pediatrics, 2025
High prevalence of copy number variations in the Japanese participants with suspected MODY.
Tanaka S et al.
Clinical Genetics, 2024
The Elusive Nature of ABCC8-related Maturity-Onset Diabetes of the Young (ABCC8-MODY). A Review of the Literature and Case Discussion.
Marassi M et al.
Current Diabetes Reports, 2024
Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.
Cheng M et al.
Pediatric Diabetes, 2024
Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.
Hopkins JJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Congenital hyperinsulinism-A case of mild hypoglycemia in an adult, detected by family testing.
Baleanu F et al.
Clinical Case Reports, 2022
ABCC8 variants in MODY12: Review of the literature and report of a case with severe complications.
Timmers M et al.
Diabetes/metabolism Research and Reviews, 2021
Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review.
Li M et al.
Journal of Diabetes Research, 2021
The difficult management of persistent, non-focal congenital hyperinsulinism: A retrospective review from a single, tertiary center.
Rasmussen AG et al.
Pediatric Diabetes, 2020
[Clinical features and genetic analysis of seven patients with congenital hyperinsulinism].
Zhang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
A mild impairment of K+ATP channel function caused by two different ABCC8 defects in an Italian newborn.
Romanisio G et al.
Acta Diabetologica, 2018
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R et al.
European Journal of Endocrinology, 2016
Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP.
Ortiz D et al.
Frontiers in Endocrinology, 2015
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
Mohnike K et al.
Hormone Research in Paediatrics, 2014
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Sandal T et al.
Clinical Genetics, 2009