Found: 21
Select item for more details and to access through your institution.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
- Published in:
- Diabetologia, 2023, v. 66, n. 12, p. 2226, doi. 10.1007/s00125-023-06012-4
- By:
- Publication type:
- Article
Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry.
- Published in:
- Diabetologia, 2017, v. 60, n. 4, p. 625, doi. 10.1007/s00125-016-4167-1
- By:
- Publication type:
- Article
Impact of overweight on glucose homeostasis in MODY2 and MODY3.
- Published in:
- Diabetic Medicine, 2021, v. 38, n. 10, p. 1, doi. 10.1111/dme.14649
- By:
- Publication type:
- Article
Permanent Neonatal Diabetes due to Mutations in KCNJ11Encoding Kir6.2.
- Published in:
- Diabetes, 2004, v. 53, n. 10, p. 2713, doi. 10.2337/diabetes.53.10.2713
- By:
- Publication type:
- Article
Permanent Neonatal Diabetes Caused by Glucokinase Deficiency.
- Published in:
- Diabetes, 2003, v. 52, n. 11, p. 2854, doi. 10.2337/diabetes.52.11.2854
- By:
- Publication type:
- Article
1638-P: Functional Characterization of HNF1B Variants Can Enhance Diabetes Precision Medicine.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1638-P
- By:
- Publication type:
- Article
1453-P: Adaption of the ACMG/AMP Variant Interpretation Guidelines for GCK, HNF1A, HNF4A-MODY: Recommendations from the ClinGen Monogenic Diabetes Expert Panel.
- Published in:
- Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1453-P
- By:
- Publication type:
- Article
246-LB: Rare Noncoding Intronic HNF1A Sequence Variants Cause Aberrant mRNA Processing in MODY.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-246-LB
- By:
- Publication type:
- Article
Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Bioinformatics pipeline for the systematic mining genomic and proteomic variation linked to rare diseases: The example of monogenic diabetes.
- Published in:
- PLoS ONE, 2024, v. 19, n. 4, p. 1, doi. 10.1371/journal.pone.0300350
- By:
- Publication type:
- Article
Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1380, doi. 10.1038/ng.2794
- By:
- Publication type:
- Article
Two New Mutations in the CEL Gene Causing Diabetes and Hereditary Pancreatitis: How to Correctly Identify MODY8 Cases.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. e1455, doi. 10.1210/clinem/dgab864
- By:
- Publication type:
- Article
Exome Sequencing and Genetic Testing for MODY.
- Published in:
- PLoS ONE, 2012, v. 7, n. 5, p. 1, doi. 10.1371/journal.pone.0038050
- By:
- Publication type:
- Article
Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2–SUR1 interactions.
- Published in:
- EMBO Journal, 2005, v. 24, n. 13, p. 2318, doi. 10.1038/sj.emboj.7600715
- By:
- Publication type:
- Article
Catalytic activation of human glucokinase by substrate binding – residue contacts involved in the binding ofD-glucose to the super-open form and conformational transitions.
- Published in:
- FEBS Journal, 2008, v. 275, n. 10, p. 2467, doi. 10.1111/j.1742-4658.2008.06391.x
- By:
- Publication type:
- Article
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
- Published in:
- Pediatric Diabetes, 2013, v. 14, n. 6, p. 466, doi. 10.1111/j.1399-5448.2012.00925.x
- By:
- Publication type:
- Article
HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.
- Published in:
- Pediatric Diabetes, 2012, v. 13, n. 2, p. e1, doi. 10.1111/j.1399-5448.2011.00773.x
- By:
- Publication type:
- Article
Diagnostic screening of MODY2/ GCK mutations in the Norwegian MODY Registry.
- Published in:
- Pediatric Diabetes, 2008, v. 9, n. 5, p. 442, doi. 10.1111/j.1399-5448.2008.00399.x
- By:
- Publication type:
- Article
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 10, p. 894, doi. 10.1093/hmg/ddae027
- By:
- Publication type:
- Article
Monogenic diabetes mellitus in Norway.
- Published in:
- Norsk Epidemiologi, 2013, v. 23, n. 1, p. 55
- By:
- Publication type:
- Article
Binding of ATP at the active site of human pancreatic glucokinase - nucleotide-induced conformational changes with possible implications for its kinetic cooperativity.
- Published in:
- FEBS Journal, 2011, v. 278, n. 13, p. 2372, doi. 10.1111/j.1742-4658.2011.08160.x
- By:
- Publication type:
- Article