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

Primary Ciliary Dyskinesia: Insights from a Portuguese tertiary centre cohort.

Pulmonology - 1 Dec 2026

Teixeira-Oliveira Sofia, Pais-Cunha Inês, Lopes Susana S, Seixas Susana, Ferraz Catarina, Amorim Adelina, Azevedo Inês

Abstract excerpt

INTRODUCTION: Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder caused by defective ciliary structure and function, leading to chronic respiratory and systemic manifestations. Diagnostic pathways have evolved over time, but no single standalone test exists. METHODS: Retrospective study of PCD patients followed at a Portuguese tertiary hospital, between 2001-2024. RESULTS: Thirty-five patients with a...

Topics

Join the communities discussing this publication.

Axonemal Dyneins
Bronchiectasis
Bronchodilator Agents
Kartagener Syndrome
Microscopy, Video

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Respiratory Function Tests

Tertiary Care Centers

Source

Identifiers

PMID: 42478199
DOI: 10.1080/25310429.2026.2704422

Genes

DNAH11
DNAH5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Primary Ciliary Dyskinesia: Insights from a Portuguese tertiary centre cohort.PMID 42478199Read ↗

Clinical manifestations and genotype of primary ciliary dyskinesia diagnosed in Korea: a nationwide, multicenter, retrospective studySemantic proximity Read ↗

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.Semantic proximity Read ↗

Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.Semantic proximity Read ↗

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.Semantic proximity Read ↗

Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.Semantic proximity Read ↗

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

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment StrategiesSemantic proximity Read ↗

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.Semantic proximity Read ↗

Clinical and molecular characteristics of primary ciliary dyskinesiaSemantic proximity Read ↗

Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia.Semantic proximity Read ↗

Primary ciliary dyskinesia.Semantic proximity Read ↗

Primary Ciliary Dyskinesia.Semantic proximity Read ↗

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