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Monogenic diabetes [PDF]

Medicine, 2019
Whereas most people with diabetes mellitus have type 1 (T1DM) or type 2 (T2DM) diabetes, there are a number of other inherited forms of diabetes and insulin resistance syndromes, which represent up to about 5% of all cases of diabetes. Monogenic forms of
Kavvoura, FK, Owen, KR
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Monogenic diabetes: a gateway to precision medicine in diabetes [PDF]

Journal of Clinical Investigation, 2021
Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene and accounts for approximately 1%-5% of diabetes. Correct diagnosis is clinically critical for certain types of monogenic diabetes, since the appropriate treatment ...
Haichen Zhang, Zhang, Haichen, Colclough, Kevin, Gloyn, Anna L., Pollin, Toni I., Kevin Colclough, Anna L. Gloyn, Toni I. Pollin   +7 more
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Many faces of monogenic diabetes [PDF]

Journal of Diabetes Investigation, 2014
Monogenic diabetes represents a heterogeneous group of disorders resulting from defects in single genes. Defects are categorized primarily into two groups: disruption of β-cell function or a reduction in the number of β-cells.
Schwitzgebel Luscher, Valérie, Schwitzgebel VM   +1 more
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Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children [PDF]

JCRPE, 2021
Objective:Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and ...
Damla Gökşen, Ediz Yeşilkaya, Samim Özen, Yılmaz Kor, Erdal Eren, Özlem Korkmaz, Merih Berberoğlu, Gülay Karagüzel, Eren Er, Ayhan Abacı, Olcay Evliyaoğlu, Emine Demet Akbaş, Edip Ünal, Semih Bolu, Özlem Nalbantoğlu, Ahmet Anık, Meltem Tayfun, Muammer Büyükinan, Saygın Abalı, Gülay Can Yılmaz, Deniz Kör, Elif Söbü, Zeynep Şıklar, Recep Polat, Şükran Darcan   +24 more
doaj   +2 more sources

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

Communications Medicine, 2023
Background Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources
Rinki Murphy, Kevin Colclough, Toni I. Pollin, Jennifer M. Ikle, Pernille Svalastoga, Kristin A. Maloney, Cécile Saint-Martin, Janne Molnes, ADA/EASD PMDI, Shivani Misra, Ingvild Aukrust, Elisa de Franco, Sarah E. Flanagan, Pål R. Njølstad, Liana K. Billings, Katharine R. Owen, Anna L. Gloyn   +16 more
doaj   +3 more sources

Monogenic Diabetes: A Diagnostic Algorithm for Clinicians [PDF]

Genes, 2013
Monogenic forms of beta cell diabetes account for approximately 1%–2% of all cases of diabetes, yet remain underdiagnosed. Overlapping clinical features with common forms of diabetes, make diagnosis challenging.
Rinki Murphy, Richard Carroll
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TOPIC: MONOGENIC DIABETES MELLITUS

, 2017
Aim: The main aim of the review is to describe about monogenic diabetes mellitus Objective: Monogenic diabetes mellitus is more common in young people developing diabetes, it is important to be alert to the possibility of monogenic diabetes; hence we ...
Preethi Krishnan, Kannan
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Syndromic Monogenic Diabetes Genes Should be Tested in Patients With a Clinical Suspicion of MODY [PDF]

, 2021
This is the author accepted manuscript. The final version is available from the American Diabetes Association via the DOI in this recordThis article contains supplementary material online at https://doi.org/10.2337/figshare.17000605At present, outside of
Patel, K., Colclough, K., Hattersley, A., Ellard, S.   +3 more
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Updating a Clinical Prediction Model for Identifying Monogenic Diabetes to Include Both Clinical Features and Biomarkers. [PDF]

Diabetes Care
OBJECTIVE: Selecting appropriate individuals for monogenic diabetes genetic testing is challenging. We aimed to develop a new probability calculator, integrating clinical features and biomarkers, to aid identification of monogenic diabetes.
Knupp J, Cardoso P, Young KG, McDonald TJ, Patel KA, Colclough K, Pearson ER, Jones AG, Jones S, Misra S, Hattersley AT, McKinley TJ, Shields BM.   +12 more
europepmc   +5 more sources

Monogenic diabetes. [PDF]

Diabetol Int
Diseases in which genetic factors contribute to nearly 100% of the causation by single-gene mutations are referred to as monogenic disorders or Mendelian genetic diseases. These include neonatal diabetes mellitus (NDM), presenting within the first six months of life, maturity-onset diabetes of the young (MODY), developing later in childhood or ...
Horikawa Y, Hosomichi K, Yabe D.
europepmc   +5 more sources