Associated Papers
MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify.
Sharp LN et al.
Diabetes, 2026
Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.
Watanabe D et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2024
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.
Mirshahi UL et al.
American Journal of Human Genetics, 2022
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Syndromic Monogenic Diabetes Genes Should Be Tested in Patients With a Clinical Suspicion of Maturity-Onset Diabetes of the Young.
Colclough K et al.
Diabetes, 2022
Evaluation of pregnancy outcomes in women with GCK-MODY.
López Tinoco C et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.
Tatsi EB et al.
Pediatric Diabetes, 2020
Misannotation of multiple-nucleotide variants risks misdiagnosis.
Wakeling MN et al.
Wellcome Open Research, 2019
The clinical management of hyperglycemia in pregnancy complicated by maturity-onset diabetes of the young.
Bacon S et al.
American Journal of Obstetrics and Gynecology, 2015
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Bennett JT et al.
Molecular Genetics and Metabolism, 2015
Co-inheritance of HNF1a and GCK mutations in a family with maturity-onset diabetes of the young (MODY): implications for genetic testing.
López-Garrido MP et al.
Clinical Endocrinology, 2013
Serum levels of pancreatic stone protein (PSP)/reg1A as an indicator of beta-cell apoptosis suggest an increased apoptosis rate in hepatocyte nuclear factor 1 alpha (HNF1A-MODY) carriers from the third decade of life onward.
Bacon S et al.
Bmc Endocrine Disorders, 2012
[Long-term follow-up of permanent neonatal diabetes in Tunisian infant].
Ben Hamouda H et al.
Annales D'endocrinologie, 2010
Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene.
Rubio-Cabezas O et al.
Pediatric Diabetes, 2008
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I et al.
Clinical Endocrinology, 2007