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Showing 1–3 of 3 results
Advanced filters: Author: "Andrew Hattersley" Clear advanced filters

  • Andrew Hattersley and colleagues report an exome sequencing study that identifies de novo heterozygous inactivating mutations in GATA6 as a common cause of pancreatic agenesis. This suggests an essential function for GATA6 in human pancreas development.

    • Hana Lango Allen
    • Sarah E Flanagan
    • Sian Ellard
    Research
    Nature Genetics
    Volume: 44, P: 20-22

  • Major advances have been made in defining the genes and mechanisms responsible for monogenic β-cell diabetes. This article describes how a molecular genetic classification into four main categories offers a more useful guide to clinical management and treatment than using terms such as neonatal diabetes or maturity-onset diabetes of the young.

    • Rinki Murphy
    • Sian Ellard
    • Andrew T Hattersley
    Reviews
    Nature Clinical Practice Endocrinology & Metabolism
    Volume: 4, P: 200-213

  • The authors of this Case Study demonstrate the substantial impact of molecular genetic testing in the improvement of diagnostics and patient treatment on the basis of the case of a 17-year-old patient who was diagnosed as having type 1 diabetes mellitus in early infancy, but after reassessment was found to have neonatal diabetes mellitus owing to a Kir6.2 mutation.

    • Angus G. Jones
    • Andrew T. Hattersley
    Reviews
    Nature Reviews Endocrinology
    Volume: 6, P: 347-351