Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY.
Pavithram A et al.
The Journal of Molecular Diagnostics : Jmd, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L et al.
Kidney International Reports, 2023
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
Plating human iPSC lines on micropatterned substrates reveals role for ITGB1 nsSNV in endoderm formation.
Vickers A et al.
Stem Cell Reports, 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
HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
Okorn C et al.
Pediatric Nephrology (berlin, Germany), 2019
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P et al.
Scientific Reports, 2019
High Prevalence of Diabetes-Predisposing Variants in MODY Genes Among Danish Women With Gestational Diabetes Mellitus.
Gjesing AP et al.
Journal of the Endocrine Society, 2017
Genetic Confirmation Rate in Clinically Suspected Maturity-Onset Diabetes of the Young.
Brahm AJ et al.
Canadian Journal of Diabetes, 2016
New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation.
Kanda S et al.
Pediatric Transplantation, 2016
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Faguer S et al.
Kidney International, 2014
HNF1B-related diabetes triggered by renal transplantation.
Zuber J et al.
Nature Reviews. Nephrology, 2009