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
39156164 (PubMed )
Supplement: mmc1.pdf
Prenatal Diagnosis of Intragenic HNF1B Variant-Associated Renal Disease by Exome Sequencing.
Yu QX et al.
Molecular Syndromology, 2023
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.
Mateus JC et al.
Clinical Diabetes and Endocrinology, 2020
32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P et al.
Scientific Reports, 2019
30778115 (PubMed )
Supplement: 41598_2019_38713_MOESM1_ESM.xlsx › RCAD_patients
The HNF1B score is a simple tool to select patients for HNF1B gene analysis.
Faguer S et al.
Kidney International, 2014
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