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Editorial: Personalized therapies for monogenic diabetes.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1496367
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- Publication type:
- Article
The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.
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- Acta Diabetologica, 2023, v. 60, n. 7, p. 989, doi. 10.1007/s00592-023-02065-4
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- Publication type:
- Article
Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.
- Published in:
- 2023
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- Publication type:
- Correction Notice
Monogenic diabetes clinic (MDC): 3-year experience.
- Published in:
- Acta Diabetologica, 2023, v. 60, n. 1, p. 61, doi. 10.1007/s00592-022-01972-2
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- Publication type:
- Article
Contribution of ONECUT1 variants to different forms of non-autoimmune diabetes mellitus in Italian patients.
- Published in:
- Acta Diabetologica, 2022, v. 59, n. 8, p. 1113, doi. 10.1007/s00592-022-01889-w
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- Publication type:
- Article
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
- Published in:
- 2015
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- Publication type:
- journal article
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.
- Published in:
- 2008
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- Publication type:
- journal article
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice.
- Published in:
- Nature Medicine, 2005, v. 11, n. 7, p. 765, doi. 10.1038/nm1254
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- Publication type:
- Article
Case report: coeliac disease as a cause of secondary failure of glibenclamide therapy in a patient with permanent neonatal diabetes due to KCNJ11/R201C mutation.
- Published in:
- Diabetologia, 2021, v. 64, n. 7, p. 1703, doi. 10.1007/s00125-021-05454-y
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- Publication type:
- Article
Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF).
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079933
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- Publication type:
- Article
Functional Characterization of a Novel <i>KCNJ11</i> in Frame Mutation-Deletion Associated with Infancy-Onset Diabetes and a Mild Form of Intermediate DEND: A Battle between K<sub>ATP</sub> Gain of Channel Activity and Loss of Channel Expression
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063758
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- Publication type:
- Article
Mutant INS-Gene Induced Diabetes of Youth: Proinsulin Cysteine Residues Impose Dominant-Negative Inhibition on Wild-Type Proinsulin Transport.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013333
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- Publication type:
- Article
Obese Children with Low Birth Weight Demonstrate Impaired β-Cell Function during Oral Glucose Tolerance Test
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2009, v. 94, n. 11, p. 4448, doi. 10.1210/jc.2009-1079
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- Publication type:
- Article
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
- Published in:
- 2008
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- Publication type:
- journal article
Case report: Better late than never, but sooner is better: switch from CSII to sulfonylureas in two patients with neonatal diabetes due to KCNJ11 variants.
- Published in:
- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1143736
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- Publication type:
- Article
The expression of four pyridoxal kinase (PDXK) human variants in Drosophila impacts on genome integrity.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50673-4
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- Publication type:
- Article
Search for genetic variants in the p66<sup>Shc</sup> longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease.
- Published in:
- BMC Genetics, 2006, v. 7, p. 1
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- Publication type:
- Article
Insulin: still a miracle after all these years.
- Published in:
- 2019
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- Publication type:
- journal article
A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant.
- Published in:
- Diabetic Medicine, 2024, v. 41, n. 2, p. 1, doi. 10.1111/dme.15202
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- Publication type:
- Article
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
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- Hormone Research in Paediatrics, 2022, v. 95, n. 3, p. 215, doi. 10.1159/000521858
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- Publication type:
- Article
IGF2 Methylation Is Associated with Lipid Profile in Obese Children.
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- Hormone Research in Paediatrics, 2013, v. 79, n. 6, p. 361, doi. 10.1159/000351707
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- Publication type:
- Article
Thyroid Function Tests in Obese Prepubertal Children: Correlations with Insulin Sensitivity and Body Fat Distribution.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 78, n. 2, p. 100, doi. 10.1159/000341363
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- Publication type:
- Article
Mutations in the Insulin Receptor Gene in Patients with Genetic Syndromes of Insulin Resistance and Acanthosis Nigricans.
- Published in:
- Journal of Investigative Dermatology, 1992, v. 98, n. 6, p. 77S, doi. 10.1111/1523-1747.ep12462281
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- Publication type:
- Article
Role of the ENPP1 K121Q Polymorphism in Glucose Homeostasis.
- Published in:
- Diabetes, 2008, v. 57, n. 12, p. 3360, doi. 10.2337/db07-1830
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- Publication type:
- Article
Molecular Genetic Diagnosis and Incidence of Permanent Neonatal Diabetes (PNDM)/Permanent Diabetes of Infancy (PDI) in Italy.
- Published in:
- Diabetes, 2007, v. 56, p. A645
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- Publication type:
- Article
An ATP-Binding Mutation (G334D) in KCNJ11 Is Associated With a Sulfonylurea-Insensitive Form of Developmental Delay, Epilepsy, and Neonatal Diabetes.
- Published in:
- Diabetes, 2007, v. 56, n. 2, p. 328, doi. 10.2337/db06-1275
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- Publication type:
- Article
Mutations at the Same Residue (R50) of Kir6.2 (KCNJ11) That Cause Neonatal Diabetes Produce Different Functional Effects.
- Published in:
- Diabetes, 2006, v. 55, n. 6, p. 1705, doi. 10.2337/db05-1640
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- Publication type:
- Article
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.
- Published in:
- 2002
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- Publication type:
- journal article
Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients.
- Published in:
- 1999
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- Publication type:
- journal article
Increased OB gene expression leads to elevated plasma leptin concentrations in patients with chronic primary hyperinsulinemia.
- Published in:
- 1998
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- Publication type:
- journal article
Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.
- Published in:
- 1992
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- Publication type:
- journal article
Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes.
- Published in:
- 1991
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- Publication type:
- journal article
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.
- Published in:
- Pediatric Diabetes, 2022, v. 23, n. 8, p. 1188, doi. 10.1111/pedi.13426
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- Publication type:
- Article
Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous <italic>INSR</italic> mutation.
- Published in:
- Pediatric Diabetes, 2018, v. 19, n. 4, p. 670, doi. 10.1111/pedi.12632
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- Publication type:
- Article
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/ S225T, del226-232 mutation.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 8, p. 656, doi. 10.1111/j.1399-5448.2012.00874.x
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- Publication type:
- Article
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.
- Published in:
- Pediatric Diabetes, 2010, v. 11, n. 1, p. 47, doi. 10.1111/j.1399-5448.2009.00527.x
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- Publication type:
- Article
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
- Published in:
- Human Mutation, 2005, v. 25, n. 1, p. 22, doi. 10.1002/humu.20124
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- Publication type:
- Article
Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.
- Published in:
- Acta Diabetologica, 2016, v. 53, n. 4, p. 559, doi. 10.1007/s00592-015-0828-7
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- Publication type:
- Article
Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment.
- Published in:
- Acta Diabetologica, 2016, v. 53, n. 3, p. 499, doi. 10.1007/s00592-015-0793-1
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- Publication type:
- Article
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?
- Published in:
- Acta Diabetologica, 2013, v. 50, n. 6, p. 951, doi. 10.1007/s00592-013-0490-x
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- Publication type:
- Article
Type 2 diabetes in pediatrics.
- Published in:
- Minerva Pediatrics, 2021, v. 73, n. 6, p. 549, doi. 10.23736/S2724-5276.21.06530-7
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- Publication type:
- Article
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Low Prevalence of HNF1A Mutations After Molecular Screening of Multiple MODY Genes in 58 Italian Families Recruited in the Pediatric or Adult Diabetes Clinic From a Single Italian Hospital.
- Published in:
- Diabetes Care, 2014, v. 37, n. 12, p. e258, doi. 10.2337/dc14-1788
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- Publication type:
- Article
No Sign of Proliferative Retinopathy in 15 Patients With Permanent Neonatal Diabetes With a Median Diabetes Duration of 24 Years.
- Published in:
- Diabetes Care, 2014, v. 37, n. 8, p. e181, doi. 10.2337/dc14-0471
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- Publication type:
- Article
Maturity-Onset Diabetes of the Young in Children With Incidental Hyperglycemia:.
- Published in:
- Diabetes Care, 2009, v. 32, n. 10, p. 1864, doi. 10.2337/dc08-2018
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- Publication type:
- Article
Insulin Gene Mutations as Cause of Diabetes in Children Negative for Five Type 1 Diabetes Autoantibodies.
- Published in:
- Diabetes Care, 2009, v. 32, n. 1, p. 123, doi. 10.2337/dc08-0783
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- Publication type:
- Article
Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY).
- Published in:
- Human Mutation, 1998, v. 12, n. 2, p. 136, doi. 10.1002/(SICI)1098-1004(1998)12:2<136::AID-HUMU13>3.0.CO;2-V
- By:
- Publication type:
- Article
Editorial: Personalized therapies for monogenic diabetes.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1496367
- By:
- Publication type:
- Article
Editorial: Personalized therapies for monogenic diabetes.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1496367
- By:
- Publication type:
- Article
Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 5, p. 679, doi. 10.1111/cen.12400
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- Publication type:
- Article