Found: 23
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Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.
- Published in:
- 2008
- By:
- Publication type:
- Letter
Case report: Exceptional transmission of congenital hyperinsulinism from a focal CHI mother to her diffuse CHI dichorionic diamniotic twins.
- Published in:
- Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2024.1408003
- By:
- Publication type:
- Article
Clinical utility gene card for: Maturity-onset diabetes of the young.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. -1, doi. 10.1038/ejhg.2014.14
- By:
- Publication type:
- Article
Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations.
- Published in:
- 2022
- By:
- Publication type:
- journal article
The Common Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies.
- Published in:
- Nature Genetics, 2015, v. 47, n. 10, p. 1131, doi. 10.1038/ng.3380
- By:
- Publication type:
- Article
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 333, doi. 10.1530/EJE-11-0874
- By:
- Publication type:
- Article
Pregnancy in Women With Monogenic Diabetes due to Pathogenic Variants of the Glucokinase Gene: Lessons and Challenges.
- Published in:
- Frontiers in Endocrinology, 2022, v. 12, p. 1, doi. 10.3389/fendo.2021.802423
- By:
- Publication type:
- Article
Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 5, p. 667, doi. 10.1515/jpem-2020-0381
- By:
- Publication type:
- Article
Congenital hyperinsulinism: current trends in diagnosis and therapy.
- Published in:
- 2011
- By:
- Publication type:
- journal article
mTOR Inhibitors for the Treatment of Severe Congenital Hyperinsulinism: Perspectives on Limited Therapeutic Success.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Clinical Characteristics and Diagnostic Criteria of Maturity-Onset Diabetes Of The Young (MODY) due to Molecular Anomalies of the HNF1A Gene.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 8, p. E1346, doi. 10.1210/jc.2011-0268
- By:
- Publication type:
- Article
Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 397, doi. 10.1002/humu.20876
- By:
- Publication type:
- Article
Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419
- By:
- Publication type:
- Article
Evaluation in Monogenic Diabetes of the Impact of GCK, HNF1A, and HNF4A Variants on Splicing through the Combined Use of In Silico Tools and Minigene Assays.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/6661013
- By:
- Publication type:
- Article
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
- Published in:
- Human Mutation, 2021, v. 42, n. 4, p. 408, doi. 10.1002/humu.24164
- By:
- Publication type:
- Article
Update of variants identified in the pancreatic β‐cell K<sub>ATP</sub> channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 884, doi. 10.1002/humu.23995
- By:
- Publication type:
- Article
Glucocorticoid-Induced Hyperinsulinism in a Preterm Neonate with Inherited ABCC8 Variant.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 9, p. 847, doi. 10.3390/metabo12090847
- By:
- Publication type:
- Article
Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects. Diabetes Care 2017;40:1436-1443.
- Published in:
- 2018
- By:
- Publication type:
- letter
Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects. Diabetes Care 2017;40:1436-1443.
- Published in:
- 2018
- By:
- Publication type:
- letter
Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( ) Molecular Defects.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Incretin Effect of Glucagon-Like Peptide 1 Receptor Agonist Is Preserved in Presence of ABCC8/SUR1 Mutation in β-Cell.
- Published in:
- Diabetes Care, 2012, v. 35, n. 11, p. e76, doi. 10.2337/dc12-0535
- By:
- Publication type:
- Article
Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis.
- Published in:
- 2019
- By:
- Publication type:
- journal article