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The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
- Published in:
- Acta Diabetologica, 2023, v. 60, n. 7, p. 989, doi. 10.1007/s00592-023-02065-4
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- Article
Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients.
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- Acta Diabetologica, 2022, v. 59, n. 8, p. 1113, doi. 10.1007/s00592-022-01889-w
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- Article
The novel loss of function Ile354Val mutation in PPARG causes familial partial lipodystrophy.
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- Acta Diabetologica, 2020, v. 57, n. 5, p. 589, doi. 10.1007/s00592-019-01462-y
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- Article
Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing.
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- Acta Diabetologica, 2019, v. 56, n. 5, p. 515, doi. 10.1007/s00592-018-01283-5
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- Article
Deep Resequencing of 9 Candidate Genes Identifies a Role for ARAP1 and IGF2BP2 in Modulating Insulin Secretion Adjusted for Insulin Resistance in Obese Southern Europeans.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1221, doi. 10.3390/ijms23031221
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- Article
A functional variant of the dimethylarginine dimethylaminohydrolase-2 gene is associated with myocardial infarction in type 2 diabetic patients.
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- Cardiovascular Diabetology, 2019, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12933-019-0906-1
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- Article
Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis.
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- 2013
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- Publication type:
- journal article
Identification and Clinical Characterization of Adult Patients with Multigenerational Diabetes Mellitus.
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- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0135855
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- Article
<i>GALNT2</i> Expression Is Reduced in Patients with Type 2 Diabetes: Possible Role of Hyperglycemia.
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- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0070159
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- Article
Serum Resistin, Cardiovascular Disease and All-Cause Mortality in Patients with Type 2 Diabetes.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064729
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- Article
ENPP1 Affects Insulin Action and Secretion: Evidences from In Vitro Studies.
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- PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019462
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- Article
The TRIB3 Q84R polymorphism and risk of early-onset type 2 diabetes.
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- 2009
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- journal article
Editorial: The pleiotropic effect of the ENPP1 (PC-1) gene on insulin resistance, obesity, and type 2 diabetes.
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- 2006
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- Publication type:
- commentary
The Common -866G/A Polymorphism in the Promoter Region of the UCP-2 Gene Is Associated with Reduced Risk of Type 2 Diabetes in Caucasians from Italy.
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- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 2, p. 1176, doi. 10.1210/jc.2004-1072
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- Article
The allelic variant of LAR gene promoter -127 bp T?A is associated with reduced risk of obesity and other features related to insulin resistance.
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- Journal of Molecular Medicine, 2004, v. 82, n. 7, p. 459, doi. 10.1007/s00109-004-0544-1
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- Article
The TRIB3 R84 variant is associated with increased carotid intima–media thickness in vivo and with enhanced MAPK signalling in human endothelial cells.
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- Cardiovascular Research, 2011, v. 89, n. 1, p. 184, doi. 10.1093/cvr/cvq255
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- Article
The TRIB3 Q84R polymorphism, insulin resistance and related metabolic alterations.
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- Biochemical Society Transactions, 2015, v. 43, n. 5, p. 1108, doi. 10.1042/BST20150115
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- Article
Role of the ENPP1 K121Q Polymorphism in Glucose Homeostasis.
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- Diabetes, 2008, v. 57, n. 12, p. 3360, doi. 10.2337/db07-1830
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- Article
The ENPP1 K121Q Polymorphism Is Associated With Type 2 Diabetes in European Populations.
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- Diabetes, 2008, v. 57, n. 4, p. 1125, doi. 10.2337/db07-1336
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- Article
The TRIB3 R84 Variant Is Associated with Selective Insulin Resistance in Human Umbilical Vein Endothelial Cells and with Early Atherosclerosis.
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- Diabetes, 2007, v. 56, p. A55
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- Publication type:
- Article
A Functional Variant of the Adipocyte Glycerol Channel Aquaporin 7 Gene Is Associated With Obesity and Related Metabolic Abnormalities.
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- Diabetes, 2007, v. 56, n. 5, p. 1468, doi. 10.2337/db06-1389
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- Publication type:
- Article
The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction.
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- 2005
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- Publication type:
- journal article
The functional Q84R polymorphism of mammalian Tribbles homolog TRB3 is associated with insulin resistance and related cardiovascular risk in Caucasians from Italy.
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- 2005
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- Publication type:
- journal article
The PPARγ2 P12A polymorphism is not associated with all-cause mortality in patients with type 2 diabetes mellitus.
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- Endocrine (1355008X), 2016, v. 54, n. 1, p. 38, doi. 10.1007/s12020-016-0906-9
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- Article
Validation in type 2 diabetes of a metabolomic signature of all‐cause mortality.
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- Diabetes/Metabolism Research & Reviews, 2024, v. 40, n. 2, p. 1, doi. 10.1002/dmrr.3734
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- Article
Association of osteocalcin, osteoprotegerin, and osteopontin with cardiovascular disease and retinopathy in type 2 diabetes.
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- Diabetes/Metabolism Research & Reviews, 2023, v. 39, n. 5, p. 1, doi. 10.1002/dmrr.3632
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- Article
The emerging role of TRIB3 as a gene affecting human insulin resistance and related clinical outcomes.
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- Acta Diabetologica, 2009, v. 46, n. 2, p. 79, doi. 10.1007/s00592-008-0087-y
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- Article
The rs12917707 polymorphism at the UMOD locus and glomerular filtration rate in individuals with type 2 diabetes: evidence of heterogeneity across two different European populations.
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- Nephrology Dialysis Transplantation, 2017, v. 32, n. 10, p. 1718, doi. 10.1093/ndt/gfw262
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- Article
The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry.
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- Nephrology Dialysis Transplantation, 2013, v. 28, n. 12, p. 3031, doi. 10.1093/ndt/gft325
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- Article
The 9p21 coronary artery disease locus and kidney dysfunction in patients with Type 2 diabetes mellitus.
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- Nephrology Dialysis Transplantation, 2012, v. 27, n. 12, p. 4411, doi. 10.1093/ndt/gfs148
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- Article
PPARγ2 P12A polymorphism and albuminuria in patients with type 2 diabetes: a meta-analysis of case–control studies.
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- Nephrology Dialysis Transplantation, 2011, v. 26, n. 12, p. 4011, doi. 10.1093/ndt/gfr187
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- Article
Association Between a Genetic Variant Related to Glutamic Acid Metabolism and Coronary Heart Disease in Individuals With Type 2 Diabetes.
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- JAMA: Journal of the American Medical Association, 2013, v. 310, n. 8, p. 821, doi. 10.1001/jama.2013.276305
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- Article
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #600 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf)
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- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129
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- Article
Six novel ATM mutations in Italian patients with classical ataxia?telangiectasiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #600 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf.
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- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129
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- Article
Interaction Between PPARγ2 Variants and Gender on the Modulation of Body Weight.
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- Obesity (19307381), 2008, v. 16, n. 6, p. 1467, doi. 10.1038/oby.2008.225
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- Article
A Polymorphism at the IL6ST (gp130) Locus Is Associated With Traits of the Metabolic Syndrome.
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- Obesity (19307381), 2008, v. 16, n. 1, p. 205, doi. 10.1038/oby.2007.28
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- Article
Interaction of DIO2 T92A and PPARγ2 P12A Polymorphisms in the Modulation of Metabolic Syndrome.
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- Obesity (19307381), 2007, v. 15, n. 12, p. 2889, doi. 10.1038/oby.2007.343
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- Publication type:
- Article
The Q121/Q121 Genotype of ENPP1/PC-1 Is Associated with Lower BMI in Non-diabetic Whites.
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- Obesity (19307381), 2007, v. 15, n. 1, p. 1, doi. 10.1038/oby.2007.636
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- Publication type:
- Article
Association of the 1q25 Diabetes-Specific Coronary Heart Disease Locus With Alterations of the γ-Glutamyl Cycle and Increased Methylglyoxal Levels in Endothelial Cells.
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- 2020
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- Publication type:
- journal article
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel.
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- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1453-P
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- Publication type:
- Article
570-P: Osteoprotegerin Induces Endothelial Dysfunction and Is Associated with Vascular Complications In Type 2 Diabetes.
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- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-570-P
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- Publication type:
- Article
Polymorphism Influences the Cardiovascular Benefit of Fenofibrate in Type 2 Diabetes: Findings From ACCORD-Lipid.
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- 2020
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- Publication type:
- journal article
Insights From Molecular Characterization of Adult Patients of Families With Multigenerational Diabetes.
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- 2018
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- Publication type:
- journal article
Some Doubts About the Mantra on the Deleterious Cardiovascular Effects of Sulfonylureas.
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- 2017
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- Publication type:
- journal article
Genetic Variant at the GLUL Locus Predicts All-Cause Mortality in Patients With Type 2 Diabetes.
- Published in:
- Diabetes, 2015, v. 64, n. 7, p. 2658, doi. 10.2337/db14-1653
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- Publication type:
- Article
IRS1 G972R Missense Polymorphism Is Associated With Failure to Oral Antidiabetes Drugs in White Patients With Type 2 Diabetes From Italy.
- Published in:
- Diabetes, 2014, v. 63, n. 9, p. 3135, doi. 10.2337/db13-1966
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- Publication type:
- Article
The ENPP1 Q121 Variant Predicts Major Cardiovascular Events in High-Risk Individuals.
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- Diabetes, 2011, v. 60, n. 3, p. 1000, doi. 10.2337/db10-1300
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- Publication type:
- Article
Impact of the PPAR-gamma2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 diabetes: evidence from BENEDICT.
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- 2009
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- Publication type:
- journal article
Impact of the PPAR-γ2 Pro12Ala Polymorphism and ACE Inhibitor Therapy on New-Onset Microalbuminuria in Type 2 Diabetes: Evidence From BENEDICT.
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- Diabetes, 2009, v. 58, n. 12, p. 2920, doi. 10.2337/db09-0407
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- Publication type:
- Article