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

Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number Variations

1 Feb 2024

Abstract excerpt

Abstract Primary ciliary dyskinesia (PCD) is a rare disorder characterized by extensive genetic heterogeneity. However, in the genetic pathogenesis of PCD, copy number variation (CNV) has not received sufficient attention and has rarely been reported, especially in China. Next-generation sequencing (NGS) followed by targeted CNV analysis was used in patients highly suspected to have PCD with negative results in...

Read the complete abstract on PubMed

Topics

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

Share to Cystic Fibrosis Research Advances
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38605905
DOI: 10.1007/s43657-023-00130-0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Next-Generation Sequencing-Based Copy Number Variation Analysis in Chinese Patients with Primary Ciliary Dyskinesia Revealed Novel DNAH5 Copy Number VariationsPMID 38605905Read ↗

Considerable variability in the clinical and ciliary features of primary ciliary dyskinesia in patients with DNAH5 mutationsSemantic proximity Read ↗

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.Semantic proximity Read ↗

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with 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 ↗

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

Pathogenic variants identified by whole-exome sequencing in Chinese patients with primary ciliary dyskinesiaSemantic proximity Read ↗

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesia.Semantic proximity Read ↗

Pathogenic variants identified using whole-exome sequencing in Chinese patients with primary ciliary dyskinesiaSemantic proximity Read ↗

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

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

A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.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.