Associated Papers
Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-income Country
Kumarasiri IM et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N et al.
The Journal of Clinical Endocrinology and Metabolism, 2024
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.
Globa E et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2023
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants.
Hopkins JJ et al.
Human Mutation, 2023
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.
He B et al.
Journal of Diabetes, 2021
Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants.
Stanik J et al.
Endocrine Regulations, 2020
Diabetes treatment in two pregnant women with permanent neonatal diabetes mellitus due to a KCNJ11 mutation.
Stanik J et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2020
Neonatal diabetes due to potassium channel mutation: Response to sulfonylurea according to the genotype.
Garcin L et al.
Pediatric Diabetes, 2020
New insights into KATP channel gene mutations and neonatal diabetes mellitus.
Pipatpolkai T et al.
Nature Reviews. Endocrinology, 2020
Non classic presentations of a genetic mutation typically associated with transient neonatal diabetes.
Devaraja J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2020
Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR et al.
Current Diabetes Reports, 2019
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.
Bowman P et al.
The Lancet. Diabetes & Endocrinology, 2018
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.
Delvecchio M et al.
The Journal of Clinical Endocrinology and Metabolism, 2017
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Vedovato N et al.
Diabetologia, 2016
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes.
Babiker T et al.
Diabetologia, 2016
Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.
Ahn SY et al.
Korean Journal of Pediatrics, 2015
Elucidation of the Inhibitory Effect of Phytochemicals with Kir6.2 Wild-Type and Mutant Models Associated in Type-1 Diabetes through Molecular Docking Approach.
Jagadeb M et al.
Genomics & Informatics, 2014
Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
Russo L et al.
Diabetologia, 2011
Transient neonatal diabetes with two novel mutations in the KCNJ11 gene and response to sulfonylurea treatment in a preterm infant.
Siklar Z et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011
[Long-term follow-up of permanent neonatal diabetes in Tunisian infant].
Ben Hamouda H et al.
Annales D'endocrinologie, 2010
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.
Lang V et al.
Pharmacogenomics and Personalized Medicine, 2010
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 SE et al.
Human Mutation, 2009
Diagnosis and treatment of neonatal diabetes: a United States experience.
Støy J et al.
Pediatric Diabetes, 2008
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
Rica I et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2007
Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
Edghill EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
Stanik J et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.
Flechtner I et al.
Endocrine Development, 2007
Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
Girard CA et al.
Pflugers Archiv : European Journal of Physiology, 2006
Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.
Flechtner I et al.
Diabetes & Metabolism, 2006
Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
Pearson ER et al.
The New England Journal of Medicine, 2006
Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
Flanagan SE et al.
Diabetologia, 2006
[Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].
Ille J et al.
Lijecnicki Vjesnik, 0