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Human Mutation|October 1, 2009
Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemiaKara K Osbak, Kevin Colclough, Cecile Saint-Martin, et al.Diabetes|August 8, 2025
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODYAparajita Sriram, Matthew N Wakeling, Andrew T Hattersley, et al.Journal of Clinical Research in Pediatric Endocrinology|January 29, 2020
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case SeriesAashish Sethi, Nicola Foulds, Sarah Ehtisham, et al.Plos One|June 27, 2013
Use of HbA1c in the identification of patients with hyperglycaemia caused by a glucokinase mutation: observational case control studiesAnna M Steele, Kirsty J Wensley, Sian Ellard, et al.Diabetes Care|February 1, 2020
Homozygous Hypomorphic HNF1A Alleles Are a Novel Cause of Young-Onset Diabetes and Result in Sulfonylurea-Sensitive DiabetesShivani Misra, Neelam Hassanali, Amanda J Bennett, et al.The Journal of Biological Chemistry|April 2, 2011
Discovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humansNicola L Beer, Martijn van de Bunt, Kevin Colclough, et al.Ebiomedicine|April 19, 2026
Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risksLuke N Sharp, Kevin Colclough, Jacques Murray Leech, et al.Diabetologia|March 18, 2026
Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variabilityJacques Murray Leech, Ankit M Arni, V Kartik Chundru, et al.Diabetes|February 2, 2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODYThomas W Laver, Matthew N Wakeling, Olivia Knox, et al.The Journal of Clinical Endocrinology and Metabolism|November 1, 2025
Population prevalence, penetrance, and mortality for genetically confirmed MODYLuke N Sharp, Kevin Colclough, Jacques Murray Leech, et al.Pageof 7