Associated Papers
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.
Yavas Abali Z et al.
Endocrine, 2025
Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomes.
Pacheco G et al.
Plos One, 2025
Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.
Huerta-Chagoya A et al.
Nature Genetics, 2024
Congenital Hyperinsulinism Caused by Mutations in ABCC8 Gene Associated with Early-Onset Neonatal Hypoglycemia: Genetic Heterogeneity Correlated with Phenotypic Variability.
Butnariu LI et al.
International Journal of Molecular Sciences, 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
Early-onset diabetes in Africa: A mini-review of the current genetic profile.
Adadey SM et al.
European Journal of Medical Genetics, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism.
Wieland I et al.
Frontiers in Endocrinology, 2022
Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.
Li M et al.
Journal of Diabetes, 2021
Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.
Lee DH et al.
Bmj Open Diabetes Research & Care, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Efficacy and safety of octreotide treatment for diazoxide-unresponsive congenital hyperinsulinism in China.
Cao B et al.
Pediatric Investigation, 2020
Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism.
Tung JY et al.
International Journal of Pediatric Endocrinology, 2020
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
Li C et al.
Diabetes, 2017
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
Szymanowski M et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Clinical and genetic characterization of congenital hyperinsulinism in Spain.
Martínez R et al.
European Journal of Endocrinology, 2016
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.
Del Roio Liberatore R et al.
Diabetology & Metabolic Syndrome, 2015
Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.
Jahnavi S et al.
Annals of Human Genetics, 2014
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
Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
Su C et al.
Hormone Research in Paediatrics, 2014
Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
Sang Y et al.
Endocrine Journal, 2014
[ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].
Xu ZD et al.
Zhonghua Yi Xue Za Zhi, 2013
In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions.
Henquin JC et al.
The Journal of Clinical Investigation, 2011
In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy.
Powell PD et al.
Diabetes, 2011
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
Bellanné-Chantelot C et al.
Journal of Medical Genetics, 2010
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism.
Damaj L et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
Giurgea I et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Fernández-Marmiesse A et al.
Human Mutation, 2006
Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
Henwood MJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Histopathology of congenital hyperinsulinism: retrospective study with genotype correlations.
Suchi M et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0