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
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 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
Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.
Dusatkova P et al.
Acta Diabetologica, 2022
Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.
Mirshahi UL et al.
Kidney International Reports, 2022
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
Targeted sequencing identifies novel variants in common and rare MODY genes.
de Santana LS et al.
Molecular Genetics & Genomic Medicine, 2019
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
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
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Etiologies of uterine malformations.
Jacquinet A et al.
American Journal of Medical Genetics. Part A, 2016
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
Genetics of human congenital urinary bladder disease.
Woolf AS et al.
Pediatric Nephrology (berlin, Germany), 2014
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
Bonnefond A et al.
Diabetes Care, 2014
Genetic basis of prune belly syndrome: screening for HNF1β gene.
Granberg CF et al.
The Journal of Urology, 2012
Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S et al.
Kidney International, 2011
Analysis of the coding genome of diffuse large B-cell lymphoma.
Pasqualucci L et al.
Nature Genetics, 2011
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations.
Oram RA et al.
American Journal of Obstetrics and Gynecology, 2010
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