Associated Papers
Unraveling the genetic basis of MODY: insights from next-generation sequencing.
Eser M et al.
Journal of Applied Genetics, 2025
Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia.
Minniakhmetov IR et al.
International Journal of Molecular Sciences, 2025
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
Patel KA et al.
Diabetologia, 2022
34686905 (PubMed )
Supplement: 125_2021_5597_MOESM1_ESM.pdf
Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.
Ateş EA et al.
Balkan Medical Journal, 2021
A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus.
Bolu S et al.
Turk Pediatri Arsivi, 2020
Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.
Raimondo A et al.
Human Molecular Genetics, 2014
Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.
Flanagan SE et al.
Cell Metabolism, 2014
24411943 (PubMed )
Supplement: mmc1.pdf
Select a paper to view details