Results 1 to 10 of about 19,319 (112)

Monogenic diabetes in New Zealand - An audit based revision of the monogenic diabetes genetic testing pathway in New Zealand [PDF]

Frontiers in Endocrinology, 2023
AimsTo evaluate (a) the diagnostic yield of genetic testing for monogenic diabetes when using single gene and gene panel-based testing approaches in the New Zealand (NZ) population, (b) whether the MODY (Maturity Onset Diabetes of the Young) pre-test ...
Francesca Harrington, Mark Greenslade, Kevin Colclough, Ryan Paul, Craig Jefferies, Craig Jefferies, Rinki Murphy   +6 more
doaj   +4 more sources

Testing for monogenic diabetes is lower than required to reveal its true prevalence in an Australian population

Diabetes Epidemiology and Management, 2022
Aims: Monogenic diabetes is responsible for 1–5% of all cases of diabetes. A previous Australian study estimated a prevalence of 89 cases per million adults, or one in 280 people with diabetes.
Aleena S. Ali, Jay C.S. Wong, Ainsley Campbell, Elif I. Ekinci   +3 more
doaj   +3 more sources

Enhancing the diagnostic yield of monogenic diabetes in unresolved cases with early-onset hyperglycemia [PDF]

Communications Medicine
Background To improve the precision of molecular diagnosis by means of a comprehensive bidirectional phenotypic and genotypic reanalysis in cases of unresolved monogenic diabetes previously investigated using a targeted next-generation sequencing (tNGS ...
Pedro Campos Franco, Augusto Cezar Santomauro Jr, Aline Dantas Costa-Riquetto, Lucas Santos de Santana, Larissa Garcia Gomes, Alexander Augusto de Lima Jorge, Milena Gurgel Teles   +6 more
doaj   +2 more sources

Clinical Characterization of Atypical Diabetes: Insights from the GENEPEDIAB Study into the Spectrum Between Type 1 and Monogenic Diabetes [PDF]

Cells
Background: Type 1 diabetes (T1D) shares clinical characteristics with other forms of diabetes, particularly monogenic diabetes such as maturity-onset diabetes of the young (MODY).
Antoine Harvengt, Gauthier Pirlot, Leyan Denizli, Zain Syed, Sophie Welsch, Dominique Beckers, Thierry Mouraux, Nicole Seret, Marie-Christine Lebrethon, Raphael Helaers, Pascal Brouillard, Miikka Vikkula, Philippe A. Lysy   +12 more
doaj   +2 more sources

Monogenic diabetes mellitus and clinical implications of genetic diagnosis [PDF]

Precision and Future Medicine, 2021
Monogenic diabetes mellitus, which is diabetes caused by a defect in a single gene that is associated with β cell function or insulin action, accounts for 1% to 6% of all pediatric diabetes cases.
Eungu Kang, Lindsey Yoojin Chung, Yu Jin Kim, Kyung Eun Oh, Young-Jun Rhie   +4 more
doaj   +1 more source

Precision treatment of beta-cell monogenic diabetes: a systematic review [PDF]

Communications Medicine
Background Beta-cell monogenic forms of diabetes have strong support for precision medicine. We systematically analyzed evidence for precision treatments for GCK-related hyperglycemia, HNF1A-, HNF4A- and HNF1B-diabetes, and mitochondrial diabetes (MD ...
Rochelle N. Naylor, Kashyap A. Patel, Jarno L. T. Kettunen, Jonna M. E. Männistö, Julie Støy, Jacques Beltrand, Michel Polak, ADA/EASD PMDI, Tina Vilsbøll, Siri A. W. Greeley, Andrew T. Hattersley, Tiinamaija Tuomi   +11 more
doaj   +2 more sources

Monogenic diabetes: recent updates on diagnosis and precision treatment: A narrative review [PDF]

Precision and Future Medicine, 2022
Monogenic diabetes is commonly caused by single-gene mutations. This disease ranges from 1% to 5% in all cases of diabetes and is less affected by behavior and environment.
Kyung Mi Jang
doaj   +1 more source

Editorial: Personalized therapies for monogenic diabetes [PDF]

Frontiers in Genetics
Maurizio Delvecchio, Ming Liu, Novella Rapini, Fabrizio Barbetti   +3 more
doaj   +2 more sources

Update on Monogenic Diabetes in Korea [PDF]

Diabetes & Metabolism Journal, 2020
Monogenic diabetes, including maturity-onset diabetes of the young, neonatal diabetes, and other rare forms of diabetes, results from a single gene mutation. It has been estimated to represent around 1% to 6% of all diabetes.
Ye Seul Yang, Soo Heon Kwak, Kyong Soo Park   +2 more
doaj   +1 more source

The performance of the MODY calculator in a non-Caucasian, mixed-race population diagnosed with diabetes mellitus before 35 years of age

Diabetology & Metabolic Syndrome, 2023
Background A maturity-onset diabetes of the young (MODY) calculator has been described and validated for use in European Caucasians. This study evaluated its performance in Brazilians diagnosed with diabetes mellitus (DM) before 35 years of age.
Augusto Cezar Santomauro, Áurea Luiza Fernandes Magalhães, Flávia Tedesco Motta, Lucas Santos de Santana, Pedro Campos Franco, Silvia Maria de Freitas, Jeniffer Johana Duarte Sanchez, Aline Dantas Costa-Riquetto, Milena G. Teles   +8 more
doaj   +1 more source