Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
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
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study.
Wu HX et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Congenital hyperinsulinism in Gran Canaria, Canary Isles.
Nóvoa-Medina Y et al.
Anales De Pediatria, 2021
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Genotype and phenotype analysis of a cohort of patients with congenital hyperinsulinism based on DOPA-PET CT scanning.
Ni J et al.
European Journal of Pediatrics, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Functional and Metabolomic Consequences of KATP Channel Inactivation in Human Islets.
Li C et al.
Diabetes, 2017
Treatment with long-acting lanreotide autogel in early infancy in patients with severe neonatal hyperinsulinism.
Corda H et al.
Orphanet Journal of Rare Diseases, 2017
Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.
Gong C et al.
Pediatric Diabetes, 2016
Clinical and molecular data from 61 Brazilian cases of Congenital Hyperinsulinemic Hypoglycemia.
Del Roio Liberatore R et al.
Diabetology & Metabolic Syndrome, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
Demirbilek H et al.
European Journal of Endocrinology, 2014
Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
Su C et al.
Hormone Research in Paediatrics, 2014
Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.
Kapoor RR et al.
European Journal of Endocrinology, 2013
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Complex ABCC8 DNA variations in congenital hyperinsulinism: lessons from functional studies.
Muzyamba M et al.
Clinical Endocrinology, 2007
Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
Gloyn AL et al.
Human Mutation, 2006
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 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
K(ATP) channels and insulin secretion disorders.
Huopio H et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002
Pancreatic beta-cell stimulation tests in transient and persistent congenital hyperinsulinism.
Christesen HB et al.
Acta Paediatrica (oslo, Norway : 1992), 2001
Persistent hyperinsulinaemic hyperglycaemia of infancy-derived cells; implications for beta-cells that replicate in vitro.
Dunne MJ et al.
Journal of Molecular Endocrinology, 2000
Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
Meissner T et al.
Human Mutation, 1999
Genetic heterogeneity in familial hyperinsulinism.
Nestorowicz A et al.
Human Molecular Genetics, 1998
Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.
Shyng SL et al.
Diabetes, 1998