Associated Papers
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
36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands
HNF1A POU Domain Mutations Found in Japanese Liver Cancer Patients Cause Downregulation of HNF4A Promoter Activity with Possible Disruption in Transcription Networks.
Haque E et al.
Genes, 2022
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
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
Somatic HNF1A mutations in the malignant transformation of hepatocellular adenomas: a retrospective analysis of data from MSK-IMPACT and TCGA.
Hechtman JF et al.
Human Pathology, 2019
Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.
Tung JY et al.
Pediatric Diabetes, 2018
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
Colclough K et al.
Human Mutation, 2013
Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.
Stanescu DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Report of Prolonged Neonatal Hypoglycemia in Three Infants of Mothers With Variants in HNF1A.
Cromer SJ et al.
Aace Clinical Case Reports, 0
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