Precision medicine for monogenic diabetes: from a survey to the development of a next-generation diagnostic panel
S Kherra, JL Blouin, F Santoni, VM Schwitzgebel - Swiss medical weekly, 2017 - smw.ch
Monogenic diabetes (MD) accounts for 1–2% of all diabetes cases. Because of its wide
phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical …
phenotypic spectrum, MD is often misdiagnosed as type 1 or type 2 diabetes. While clinical …
[HTML][HTML] Next-generation sequencing is an effective method for diagnosing patients with different forms of monogenic diabetes
A Zmysłowska, P Jakiel, K Gadzalska, A Majos… - diabetes research and …, 2022 - Elsevier
Aim Monogenic diabetes (MD) represents 5–7% of antibody-negative diabetes cases and is
a heterogeneous group of disorders. Methods We used targeted next-generation …
a heterogeneous group of disorders. Methods We used targeted next-generation …
[HTML][HTML] Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross …
X Donath, C Saint-Martin, D Dubois-Laforgue… - BMC medicine, 2019 - Springer
Abstract Background Monogenic diabetes (MgD) accounts for 1–2% of all diabetes cases. In
adults, MgD is difficult to distinguish from common diabetes causes. We assessed the …
adults, MgD is difficult to distinguish from common diabetes causes. We assessed the …
Monogenic diabetes in adults: A multi-ancestry study reveals strong disparities in diagnosis rates and clinical presentation
F Mifsud, C Saint-Martin, D Dubois-Laforgue… - Diabetes Research and …, 2022 - Elsevier
Aim Identification of monogenic diabetes (MgD) conveys benefits for patients' care.
Algorithms for selecting the patients to be genetically tested have been established in …
Algorithms for selecting the patients to be genetically tested have been established in …
Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene
Aim We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel
responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole …
responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole …
A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among …
Aims Diabetes is increasing globally and Asia is the epicenter. Among those with young-
onset diabetes (< 45 years), the prevalence of monogenic diabetes is estimated to be non …
onset diabetes (< 45 years), the prevalence of monogenic diabetes is estimated to be non …
[HTML][HTML] A Systematic Review of the use of Precision Diagnostics in Monogenic Diabetes
R Murphy, K Colclough, TI Pollin, JM Ikle, P Svalastoga… - medRxiv, 2023 - ncbi.nlm.nih.gov
Monogenic forms of diabetes present opportunities for precision medicine as identification of
the underlying genetic cause has implications for treatment and prognosis. However …
the underlying genetic cause has implications for treatment and prognosis. However …
Monogenic diabetes characteristics in a transnational multicenter study from Mediterranean countries
M Vaxillaire, A Bonnefond, S Liatis, LBS Hachmi… - Diabetes Research and …, 2021 - Elsevier
Background Diagnosis of monogenic diabetes has important clinical implications for
treatment and health expenditure. However, its prevalence remains to be specified in many …
treatment and health expenditure. However, its prevalence remains to be specified in many …
[HTML][HTML] 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 …
underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria …
[HTML][HTML] Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
N Kheriji, H Dallali, I Gouiza, M Hechmi… - Frontiers in …, 2023 - frontiersin.org
Introduction: Monogenic diabetes (MD) accounts for 3%–6% of all cases of diabetes. This
prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 …
prevalence is underestimated due to its overlapping clinical features with type 1 and type 2 …