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

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

Pediatric pulmonology - 1 May 2016

Djakow Jana, Kramná Lenka, Dušátková Lenka, Uhlík Jiří, Pursiheimo Juha-Pekka, Svobodová Tamara, Pohunek Petr, Cinek Ondřej

Abstract excerpt

BACKGROUND: Primary ciliary dyskinesia (PCD) is a multigenic autosomal recessive condition affecting respiratory tract and other organs where ciliary motility is required. The extent of its genetic heterogeneity is remarkable. The aim of the study was to develop a cost-effective pipeline for genetic diagnostics using a combination of Sanger and next generation sequencing (NGS). MATERIALS AND METHODS: Data and...

Read the complete abstract on PubMed

Topics

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

Share to Antigens, Surface
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Czech Republic

Share to GTP-Binding Proteins

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Kartagener Syndrome

Source

Identifiers

PMID: 26228299
DOI: 10.1002/ppul.23261

Genes

SPAG1
CCDC40
DNAH5
DNAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.PMID 26228299Read ↗

Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.Semantic proximity Read ↗

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.Semantic proximity Read ↗

Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variantsSemantic proximity Read ↗

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.Semantic proximity Read ↗

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesiaSemantic proximity Read ↗

A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.Semantic proximity Read ↗

Enhancing genetic diagnosis of primary ciliary dyskinesia by copy number variants analysis.Semantic proximity Read ↗

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.Semantic proximity Read ↗

Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.Semantic proximity Read ↗

Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia.Semantic proximity Read ↗

Genetics of 67 patients of suspected primary ciliary dyskinesia from India.Semantic proximity Read ↗

Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.Semantic proximity Read ↗

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