Found: 21
Select item for more details and to access through your institution.
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
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
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
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
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
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
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
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
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
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
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