Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.

BMC medical genomics - 3 Jul 2021

Jung Jiwon, Lee Joo Hoon, Park Young Seo, Seo Go Hun, Keum Changwon, Kang Hee Gyung, Lee Hajeong, Lee Sang Koo, Lee Sang Taek, Cho Heeyeon, Lee Beom Hee

Abstract excerpt

BACKGROUND: This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. METHODS: Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members. RESULTS: Nine patients from nine unrelated Korean families were included in the study and evaluated. WES identified eight...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Exome Sequencing

Share to Infant

Share to Kidney Diseases

Share to Pedigree

Share to Rare Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 34217267
DOI: 10.1186/s12920-021-01026-6
PMCID: PMC8254264

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.PMID 34217267Read ↗

Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.Semantic proximity Read ↗

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

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndromeSemantic proximity Read ↗

Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application.Semantic proximity Read ↗

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

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

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.Semantic proximity Read ↗

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant RecipientsSemantic proximity Read ↗

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

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

Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease.Semantic proximity Read ↗

[The application value of whole exome sequencing technology in diagnosis of hereditary renal cysts].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.