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Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract

10 Mar 2020

Abstract excerpt

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. The search for genetic causes of CAKUT has led to genetic diagnosis in approximately 5–20 % of CAKUT patients from Western countries. In this study, genetic causes of CAKUT in Korean children were sought using targeted exome sequencing (TES) of 60 genes reported to cause CAKUT in human or...

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Genetic and Kidney Cyst Diseases
Renal and related cancers
Renal cell carcinoma treatment

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32164334
DOI: 10.3390/jcm9030751

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Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary TractPMID 32164334Read ↗

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.Semantic proximity Read ↗

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experienceSemantic proximity Read ↗

Exome Reanalysis Identifies Novel Candidate Genes Associated with Congenital Anomalies of the Kidney and Urinary Tract in ChinaSemantic proximity Read ↗

Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experienceSemantic proximity Read ↗

Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of LifeSemantic proximity Read ↗

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort studySemantic proximity Read ↗

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Semantic proximity Read ↗

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.Semantic proximity Read ↗

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.Semantic proximity Read ↗

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary TractSemantic proximity Read ↗

Impact of next generation sequencing on our understanding of CAKUT.Semantic proximity Read ↗

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).Semantic proximity Read ↗

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