Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes

AW Greeley, RN Naylor, LS Cook… - Journal of Diabetes …, 2011 - journals.sagepub.com
Background: Monogenic diabetes is a group of disorders caused by mutations in any one of
a number of genes. Although a monogenic diagnosis—estimated to represent as much as …

Monogenic diabetes in adults: what are the new developments?

KR Owen - Current Opinion in Genetics & Development, 2018 - Elsevier
Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic
causes of beta-cell dysfunction and diabetes arising in children and young adults. Making …

Genetic counseling for diabetes mellitus

SA Stein, KA Maloney, TI Pollin - Current genetic medicine reports, 2014 - Springer
Most diabetes is polygenic in etiology, with (type 1 diabetes, T1DM) or without (type 2
diabetes, T2DM) an autoimmune basis. Genetic counseling for diabetes generally focuses …

Syndromic monogenic diabetes genes should be tested in patients with a clinical suspicion of maturity-onset diabetes of the young

K Colclough, S Ellard, A Hattersley, K Patel - Diabetes, 2022 - Am Diabetes Assoc
At present, outside of infancy, genetic testing for monogenic diabetes is typically for
mutations in maturity-onset diabetes of the young (MODY) genes that predominantly result in …

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

R Murphy, K Colclough, TI Pollin, JM Ikle… - Communications …, 2023 - nature.com
Background Monogenic diabetes presents opportunities for precision medicine but is
underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria …

Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics

KA Patel, MN Ozbek, M Yildiz, T Guran, C Kocyigit… - Diabetologia, 2022 - Springer
Aims/hypothesis Current clinical guidelines for childhood-onset monogenic diabetes outside
infancy are mainly focused on identifying and testing for dominantly inherited, predominantly …

Identifying subtypes of monogenic diabetes

A Juszczak, K Owen - Diabetes Management, 2014 - search.proquest.com
Monogenic diabetes is estimated to account for 0.5-1.2% of all diabetes cases and remains
underdiagnosed. It consists of a variety of subtypes associated with mutations in more than …

Diagnosis of monogenic diabetes: 10‐Year experience in a large multi‐ethnic diabetes center

ERA Thomas, A Brackenridge, J Kidd… - Journal of diabetes …, 2016 - Wiley Online Library
Abstract Aims/Introduction Monogenic diabetes accounts for approximately 1–2% of all
diabetes, and is difficult to distinguish from type 1 and type 2 diabetes. Molecular diagnosis …

Genomic medicine at the heart of diabetes management

MI McCarthy - Diabetologia, 2015 - Springer
Individual predisposition to type 2 diabetes is influenced by the combined effect of a
constellation of genetic variants and a multitude of environmental exposures. Identification of …

[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …