Associated Papers
Children with Pancreatic Hypoplasia Experience Poor Weight Gain and Labile Diabetes but Low Incidence of DKA.
Denson AM et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Kingsmore SF et al.
American Journal of Human Genetics, 2024
PDX-1: A Promising Therapeutic Target to Reverse Diabetes.
Zhang Y et al.
Biomolecules, 2022
Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations.
Krishnamurthy M et al.
Gastroenterology, 2022
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
34108472 (PubMed )
Supplement: 41467_2021_23556_MOESM3_ESM.xlsx › Supp_Data_2
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.
Caetano LA et al.
Clinical Genetics, 2018
Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4.
Mangrum C et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2015
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Alkorta-Aranburu G et al.
Molecular Genetics and Metabolism, 2014
Obesity and hyperinsulinemia in a family with pancreatic agenesis and MODY caused by the IPF1 mutation Pro63fsX60.
Fajans SS et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2010
Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation.
Thomas IH et al.
Pediatric Diabetes, 2009
Select a paper to view details