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Sabrina Prudente

Casa Sollievo della Sofferenza

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Gain of function of Malate Dehydrogenase 2 (MDH2) and familial hyperglycemia.

2021 The Journal of Clinical Endocrinology and Metabolism
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1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel

2020 Diabetes
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A PPARA Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD Lipid

2020 Diabetes
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570-P: Osteoprotegerin Induces Endothelial Dysfunction and Is Associated with Vascular Complications In Type 2 Diabetes

2020 Diabetes
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Disentangling the heterogeneity of adulthood-onset non-autoimmune diabetes: a little closer but lot more to do.

2020 Current Opinion in Pharmacology
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Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing

2019 Acta Diabetologica
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The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy

2019 Acta Diabetologica
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Pharmacogenetics of oral antidiabetes drugs: evidence for diverse signals at the IRS1 locus

2018 Pharmacogenomics Journal
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Deep re-sequencing of 9 type 2 diabetes GWAS loci by comparison of extremes of dynamic indices of insulin secrection

2017 Diabetologia
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Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI

2017 European Journal of Paediatric Neurology
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