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Endocrinology, Diabetes & Metabolism Case Reports|February 8, 2025
Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys)Emma L Prehn, Mairéad Crowley, David Fennell, et al.Wellcome Open Research|January 25, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosisMatthew N Wakeling, Thomas W Laver, Kevin Colclough, et al.Journal of Diabetes Investigation|June 23, 2016
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes centerEllen Ra Thomas, Anna Brackenridge, Julia Kidd, et al.JAMA|January 17, 2014
Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemiaAnna M Steele, Beverley M Shields, Kirsty J Wensley, et al.European Journal of Medical Genetics|April 24, 2020
Congenital hyperinsulinism due to mutations in HNF1ADaphne Yau, Kevin Colclough, Anuja Natarajan, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 23, 2020
A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndromeArameh S Aghababaie, Martha Ford-Adams, Charles R Buchanan, et al.Diabetologia|October 5, 2013
Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemiaAmanda Stride, Beverley Shields, Olivia Gill-Carey, et al.The Medical Journal of Australia|October 13, 2017
The prevalence of monogenic diabetes in Australia: the Fremantle Diabetes Study Phase IITimothy Me Davis, Ashley E Makepeace, Sian Ellard, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|September 2, 2017
MODY in Ukraine: genes, clinical phenotypes and treatmentEvgenia Globa, Nataliya Zelinska, Lenka Elblova, et al.Diabetes|February 13, 2008
Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutationsRitika R Kapoor, Jonathan Locke, Kevin Colclough, et al.Pageof 7