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
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
Koenigbauer JT et al.
Archives of Gynecology and Obstetrics, 2024
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Kołbuc M et al.
Pediatric Nephrology (berlin, Germany), 2024
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Şimşek E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy.
Petrakis I et al.
International Journal of Molecular Sciences, 2024
An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Lucchesi D et al.
Acta Diabetologica, 2024
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
Genetic and Clinical Characterization of Patients with HNF1B-Related MODY in Croatia.
Baretić M et al.
Journal of Personalized Medicine, 2023
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2022
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
Mutation search within monogenic diabetes genes in Polish patients with long-term type 1 diabetes and preserved kidney function.
Hohendorff J et al.
Polish Archives of Internal Medicine, 2022
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2021
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Ticha I et al.
Scientific Reports, 2019
High frequency of pathogenic and rare sequence variants in diabetes-related genes among Russian patients with diabetes in pregnancy.
Zubkova N et al.
Acta Diabetologica, 2019
Urinary proteome signature of Renal Cysts and Diabetes syndrome in children.
Ricci P et al.
Scientific Reports, 2019
The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.
Komazec J et al.
Endokrynologia Polska, 2019
Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?
Urrutia I et al.
Plos One, 2019
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Kidney International, 2014
A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.
Thomas CP et al.
Kidney International, 2008
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S et al.
Journal of the American Society of Nephrology : Jasn, 2006
Cytokine Profile in Patients With Maturity-onset Diabetes of the Young (MODY).
Diren A et al.
In Vivo (athens, Greece), 0