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

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome

18 Apr 2014

Abstract excerpt

BACKGROUND AND OBJECTIVES: In steroid-resistant nephrotic syndrome (SRNS), >21 single-gene causes are known. However, mutation analysis of all known SRNS genes is time and cost intensive. This report describes a new high-throughput method of mutation analysis using a PCR-based microfluidic technology that allows rapid simultaneous mutation analysis of 21 single-gene causes of SRNS in a large number of...

Read the complete abstract on PubMed

Topics

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

Share to Phosphodiesterase function and regulation
Share to Renal Diseases and Glomerulopathies
Share to Vasculitis and related conditions

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 24742477
DOI: 10.2215/cjn.09010813

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic SyndromePMID 24742477Read ↗

Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.Semantic proximity Read ↗

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.Semantic proximity Read ↗

Monogenic Causes Identified in 23.68% of Children with Steroid-Resistant Nephrotic Syndrome: A Single-Centre StudySemantic proximity Read ↗

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.Semantic proximity Read ↗

Genetic screening in children with challenging nephrotic syndrome.Semantic proximity Read ↗

Factors predicting the occurrence of disease-causing variants on next-generation sequencing in children with steroid-resistant nephrotic syndrome - implications for resource-constrained settings.Semantic proximity Read ↗

Genetic tests in children with steroid-resistant nephrotic syndromeSemantic proximity Read ↗

Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.Semantic proximity Read ↗

In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants less common than previously reportedSemantic proximity Read ↗

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.Semantic proximity Read ↗

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