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

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.

Journal of genetics - 1 Dec 2013

Fylaktou Irene, Megremis Spyridon, Mitsioni Andromachi, Kitsiou-Tzeli Sofia, Kosma Konstantina, Bitsori Maria, Stefanidis Constantinos J, Kanavakis Emmanuel, Traeger Synodinos Joanne

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Fatal Outcome
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Greece

Share to Infant

Share to Membrane Proteins

Share to Nephrotic Syndrome

Share to Point Mutation

Source

Identifiers

PMID: 24371179
DOI: 10.1007/s12041-013-0290-7

Genes

NPHS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.PMID 24371179Read ↗

Novel NPHS1 gene mutation in an Iranian patient with congenital nephrotic syndrome of the Finnish type.Semantic proximity Read ↗

Novel NPHS1 Gene Mutations in two Chinese Infants with Congenital Nephrotic Syndrome.Semantic proximity Read ↗

Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.Semantic proximity Read ↗

NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.Semantic proximity Read ↗

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.Semantic proximity Read ↗

Expanding the clinical spectrum of congenital nephrotic syndrome caused by NPHS1 mutations.Semantic proximity Read ↗

The Frequency of Genetic Mutations in Pediatric Patients Diagnosed with Nephrotic Syndrome: A Single-Center Retrospective Study in Saudi Arabia.Semantic proximity Read ↗

Genetics in Clinical Practice: Nephrotic and Proteinuric SyndromesSemantic proximity Read ↗

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).Semantic proximity Read ↗

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.Semantic proximity Read ↗

Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.Semantic proximity Read ↗

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