Associated Papers
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study.
Gao Z et al.
American Journal of Obstetrics and Gynecology, 2026
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Maturity-onset diabetes of the young secondary to HNF1B variants (HNF1B-MODY): a series of 10 patients from a single diabetes center.
Amaral S et al.
Diabetology & Metabolic Syndrome, 2023
The Landscape of HNF1B Deficiency: A Syndrome Not Yet Fully Explored.
Gambella A et al.
Cells, 2023
Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases.
Ruzgienė D et al.
Acta Medica Lituanic, 2021
Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.
Pinon M et al.
Italian Journal of Pediatrics, 2019
Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism.
Johnson SR et al.
Pediatric Diabetes, 2018
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Duval H et al.
Prenatal Diagnosis, 2016
TCF2/HNF-1beta mutations: 3 cases of fetal severe pancreatic agenesis or hypoplasia and multicystic renal dysplasia.
Body-Bechou D et al.
Prenatal Diagnosis, 2014
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Madariaga L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
Edghill EL et al.
Journal of Medical Genetics, 2006
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