Associated Papers
Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.
Buhur Pirimoglu M et al.
Irish Journal of Medical Science, 2025
Presence of mitochondrial dysfunction in a case of Fanconi syndrome with normoglycemic MODY1.
Fujii Y et al.
Cen Case Reports, 2025
Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects.
Kaci A et al.
Human Molecular Genetics, 2024
De novo HNF4A-associated atypical Fanconi renal tubulopathy syndrome.
Hudson R et al.
Journal of Nephrology, 2024
Non-surgical Treatment May be Appropriate for Most Chinese Children With Monogenic Congenital Hyperinsulinism Based on a Retrospective Study of 121 Patients.
Cheng M et al.
Pediatric Diabetes, 2024
Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.
Grassi M et al.
Molecular Syndromology, 2023
Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.
Wolschendorf R et al.
Jcem Case Reports, 2023
Syndromic forms of congenital hyperinsulinism.
Zenker M et al.
Frontiers in Endocrinology, 2023
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
Carnitine deficiency, hearing loss and hydrochlorothiazide-induced diabetes mellitus associated with the recurrent p.Trp85Arg variant in HNF4A.
Mattman A et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.
McGlacken-Byrne SM et al.
European Journal of Endocrinology, 2022
Hypoglycaemia Metabolic Gene Panel Testing.
Maiorana A et al.
Frontiers in Endocrinology, 2022
Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.
Lemaire M
American Journal of Physiology. Renal Physiology, 2021
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.
Sheppard SE et al.
American Journal of Medical Genetics. Part A, 2021
Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome.
Duan N et al.
Bmc Nephrology, 2021
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Costain G et al.
Jama Network Open, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Helping nephrologists find answers: hyperinsulinism and tubular dysfunction: Answers.
Betcherman L et al.
Pediatric Nephrology (berlin, Germany), 2020
Molecular Basis for Autosomal-Dominant Renal Fanconi Syndrome Caused by HNF4A.
Marchesin V et al.
Cell Reports, 2019
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
A Complicated Pregnancy in an Adult with HNF4A p.R63W-Associated Fanconi Syndrome.
Anyiam O et al.
Case Reports in Medicine, 2019
HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature.
Liu J et al.
Journal of Medical Case Reports, 2018
Simultaneous reprogramming and gene editing of human fibroblasts.
Howden SE et al.
Nature Protocols, 2018
Challenging diagnosis of congenital hyperinsulinism in two infants of diabetic mothers with rare pathogenic KCNJ11 and HNF4A gene variants.
Huerta-Saenz L et al.
International Journal of Pediatric Endocrinology, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
Fainting Fanconi syndrome clarified by proxy: a case report.
Walsh SB et al.
Bmc Nephrology, 2017
Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.
Stanik J et al.
Diabetes Research and Clinical Practice, 2017
Hyperinsulinaemic hypoglycaemia, renal Fanconi syndrome and liver disease due to a mutation in the HNF4A gene.
Clemente M et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2017
Hepatocyte Nuclear Factor-4 Alfa Mutation Associated with Hyperinsulinaemic Hypoglycaemia and Atypical Renal Fanconi Syndrome: Expanding the Clinical Phenotype.
Improda N et al.
Hormone Research in Paediatrics, 2016
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Hamilton AJ et al.
Journal of Medical Genetics, 2014
Evaluation of a target region capture sequencing platform using monogenic diabetes as a study-model.
Gao R et al.
Bmc Genetics, 2014
[Clinical and genetic analysis of Dent' s disease in 6 Chinese children with low molecular weight proteinuria].
Zhu BZ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.
Ellard S et al.
Human Mutation, 2006
A Case of Hyperinsulinemic Hypoglycaemia Associated with Atypical Fanconi Renal Tubulopathy Syndrome Caused by an HNF4A Variant.
Garriga-Edo S et al.
Case Reports in Nephrology and Dialysis, 0