Tans R, Glendorf T, van Herwaarden A, Venselaar H, van Rijswijck D, Wevers R
BMJ Open Diabetes Res Care. 2024; 12(6.
PMID: 39706672
PMC: 11667383.
DOI: 10.1136/bmjdrc-2024-004418.
Narasimhegowda M, Nagarajappa V, Palany R
Arch Endocrinol Metab. 2024; 68:e230239.
PMID: 39420905
PMC: 11326734.
DOI: 10.20945/2359-4292-2023-0239.
Yu J, Ashraf R, Mahajan A, Hogan J, Darlington G, Buchholz A
Rev Cardiovasc Med. 2024; 24(9):259.
PMID: 39076398
PMC: 11262449.
DOI: 10.31083/j.rcm2409259.
Satpathy S, Panigrahi L, Arakha M
Curr Top Med Chem. 2024; 24(15):1327-1342.
PMID: 38561614
DOI: 10.2174/0115680266299494240326083936.
Diabetes Care. 2023; 47(Suppl 1):S20-S42.
PMID: 38078589
PMC: 10725812.
DOI: 10.2337/dc24-S002.
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.
Svalastoga P, Kaci A, Molnes J, Solheim M, Johansson B, Krogvold L
Diabetologia. 2023; 66(12):2226-2237.
PMID: 37798422
PMC: 10627920.
DOI: 10.1007/s00125-023-06012-4.
Monogenic Diabetes with GATA6 Mutations: Characterization of a Novel Family and a Comprehensive Analysis of the GATA6 Clinical and Genetics Traits.
Yue X, Luo Y, Wang J, Huang D
Mol Biotechnol. 2023; 66(3):467-474.
PMID: 37204622
PMC: 10881634.
DOI: 10.1007/s12033-023-00761-8.
Prescriptions for insulin and insulin analogues in children with and without major congenital anomalies: a data linkage cohort study across six European regions.
Given J, Morris J, Garne E, Ballardini E, Barrachina-Bonet L, Cavero-Carbonell C
Eur J Pediatr. 2023; 182(5):2235-2244.
PMID: 36869270
PMC: 10175355.
DOI: 10.1007/s00431-023-04885-6.
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients.
Salina A, Bassi M, Aloi C, Strati M, Bocciardi R, DAnnunzio G
Int J Mol Sci. 2023; 24(4).
PMID: 36835446
PMC: 9961661.
DOI: 10.3390/ijms24044034.
2. Classification and Diagnosis of Diabetes: Standards of Care in Diabetes-2023.
ElSayed N, Aleppo G, Aroda V, Bannuru R, Brown F, Bruemmer D
Diabetes Care. 2022; 46(Suppl 1):S19-S40.
PMID: 36507649
PMC: 9810477.
DOI: 10.2337/dc23-S002.
A Novel Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing.
Concolino P, Tartaglione L, De Paolis E, Carrozza C, Urbani A, Minucci A
Genes (Basel). 2022; 13(11).
PMID: 36421779
PMC: 9690203.
DOI: 10.3390/genes13112104.
Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.
Perge K, Nicolino M
Rev Endocr Metab Disord. 2022; 23(5):1063-1078.
PMID: 35996042
DOI: 10.1007/s11154-022-09749-2.
Diagnostic Test Accuracy of Urine C-peptide Creatinine Ratio for the Correct Identification of the Type of Diabetes: A Systematic Review.
Pappachan J, Sunil B, Fernandez C, Lahart I, Ashraf A
touchREV Endocrinol. 2022; 18(1):2-9.
PMID: 35949364
PMC: 9354948.
DOI: 10.17925/EE.2022.18.1.2.
Multi-Timepoint Metabolic Fingerprinting of a Post-Episode Period of Hypoglycemia and Ketoacidosis Among Children With Type 1 Diabetes.
Malachowska B, Pietrowska K, Mlynarski W, Szadkowska A, Kretowski A, Ciborowski M
Front Mol Biosci. 2022; 9:869116.
PMID: 35813820
PMC: 9259852.
DOI: 10.3389/fmolb.2022.869116.
Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene.
You W, Yang J, Wang L, Liu Y, Wang W, Zhu L
Front Endocrinol (Lausanne). 2022; 13:895424.
PMID: 35634501
PMC: 9134870.
DOI: 10.3389/fendo.2022.895424.
Increase in the Number of Pediatric New-Onset Diabetes and Diabetic Ketoacidosis Cases During the COVID-19 Pandemic.
Chambers M, Mecham C, Arreola E, Sinha M
Endocr Pract. 2022; 28(5):479-485.
PMID: 35189332
PMC: 8855612.
DOI: 10.1016/j.eprac.2022.02.005.
The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort.
Johnston J, Brennan M, Radenbaugh B, Yoo S, Hernandez S, Lewis K
Genet Med. 2021; 24(3):736-743.
PMID: 34906458
PMC: 10120277.
DOI: 10.1016/j.gim.2021.11.012.
Do second generation sequencing techniques identify documented genetic markers for neonatal diabetes mellitus?.
Ali Khan I
Heliyon. 2021; 7(9):e07903.
PMID: 34584998
PMC: 8455689.
DOI: 10.1016/j.heliyon.2021.e07903.
Monogenic Diabetes Modeling: Pancreatic Differentiation From Human Pluripotent Stem Cells Gains Momentum.
Burgos J, Vallier L, Rodriguez-Segui S
Front Endocrinol (Lausanne). 2021; 12:692596.
PMID: 34295307
PMC: 8290520.
DOI: 10.3389/fendo.2021.692596.
Nutritional markers of undiagnosed type 2 diabetes in adults: Findings of a machine learning analysis with external validation and benchmarking.
De Silva K, Lim S, Mousa A, Teede H, Forbes A, Demmer R
PLoS One. 2021; 16(5):e0250832.
PMID: 33951067
PMC: 8099133.
DOI: 10.1371/journal.pone.0250832.