Cargando…

Registries and collaborative studies for primary ciliary dyskinesia in Europe

Primary ciliary dyskinesia (PCD) is a rare inherited disease characterised by malfunctioning cilia leading to a heterogeneous clinical phenotype with many organ systems affected. There is a lack of data on clinical presentation, prognosis and effectiveness of treatments, making it mandatory to impro...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ardura-Garcia, Cristina, Goutaki, Myrofora, Carr, Siobhán B., Crowley, Suzanne, Halbeisen, Florian S., Nielsen, Kim G., Pennekamp, Petra, Raidt, Johanna, Thouvenin, Guillaume, Yiallouros, Panayiotis K., Omran, Heymut, Kuehni, Claudia E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	European Respiratory Society 2020
Materias:	Reviews
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248350/ https://www.ncbi.nlm.nih.gov/pubmed/32494577 http://dx.doi.org/10.1183/23120541.00005-2020

Ejemplares similares

Spirometric indices in primary ciliary dyskinesia: systematic review and meta-analysis
por: Halbeisen, Florian S., et al.
Publicado: (2019)

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results
por: Goutaki, Myrofora, et al.
Publicado: (2017)

Lung function from school age to adulthood in primary ciliary dyskinesia
por: Halbeisen, Florian S., et al.
Publicado: (2022)

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study
por: Kouis, Panayiotis, et al.
Publicado: (2019)

Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review
por: Gahleitner, Florian, et al.
Publicado: (2021)

Respiratory symptoms of Swiss people with primary ciliary dyskinesia
por: Goutaki, Myrofora, et al.
Publicado: (2022)

Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study
por: Schreck, Leonie Daria, et al.
Publicado: (2023)

Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis
por: Schramm, Andre, et al.
Publicado: (2023)

Diagnosis and management of primary ciliary dyskinesia
por: Werner, Claudius, et al.
Publicado: (2015)

Recessive Mutations in CFAP74 Cause Primary Ciliary Dyskinesia with Normal Ciliary Ultrastructure
por: Biebach, Luisa, et al.
Publicado: (2022)

Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD
por: Goutaki, Myrofora, et al.
Publicado: (2020)

Incidence and Severity of SARS-CoV-2 Infections in People With Primary Ciliary Dyskinesia
por: Pedersen, Eva S. L., et al.
Publicado: (2023)

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
por: Behan, Laura, et al.
Publicado: (2016)

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia
por: Crowley, Suzanne, et al.
Publicado: (2020)

Diagnosis of primary ciliary dyskinesia: discrepancy according to different algorithms
por: Nussbaumer, Mirjam, et al.
Publicado: (2021)

Mapping the Most Common Founder Variant in RSPH9 That Causes Primary Ciliary Dyskinesia in Multiple Consanguineous Families of Bedouin Arabs
por: Al-Mutairi, Dalal A., et al.
Publicado: (2023)

COVID-PCD: a participatory research study on the impact of COVID-19 in people with primary ciliary dyskinesia
por: Pedersen, Eva S.L., et al.
Publicado: (2021)

Current and Future Treatments in Primary Ciliary Dyskinesia
por: Paff, Tamara, et al.
Publicado: (2021)

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN
por: Raidt, Johanna, et al.
Publicado: (2022)

COVID-19 Vaccinations: Perceptions and Behaviours in People with Primary Ciliary Dyskinesia
por: Pedersen, Eva S. L., et al.
Publicado: (2021)

Facemask Usage Among People With Primary Ciliary Dyskinesia During the COVID-19 Pandemic: A Participatory Project
por: Pedersen, Eva S. L., et al.
Publicado: (2021)

Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives
por: Rubbo, Bruna, et al.
Publicado: (2016)

SARS-CoV-2 infections in people with primary ciliary dyskinesia: neither frequent, nor particularly severe
por: Pedersen, Eva S.L., et al.
Publicado: (2021)

Sinonasal disease among patients with primary ciliary dyskinesia: an international study
por: Lam, Yin Ting, et al.
Publicado: (2023)

Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula
por: Al-Mutairi, Dalal A., et al.
Publicado: (2022)

Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis
por: Kouis, Panayiotis, et al.
Publicado: (2015)

Nasal nitric oxide measurement for primary ciliary dyskinesia diagnosis: The impact of underlying genetic defects on diagnostic accuracy
por: Kouis, Panayiotis, et al.
Publicado: (2019)

International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives
por: Marthin, June K., et al.
Publicado: (2021)

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
por: Abdelhamed, Zakia, et al.
Publicado: (2020)

Cost-effectiveness analysis of three algorithms for diagnosing primary ciliary dyskinesia: a simulation study
por: Kouis, Panayiotis, et al.
Publicado: (2019)

Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials
por: Lucas, Jane S., et al.
Publicado: (2019)

Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review
por: Alexandru, Mihaela, et al.
Publicado: (2023)

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice
por: Abdelhamed, Zakia, et al.
Publicado: (2021)

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities
por: Amirav, Israel, et al.
Publicado: (2016)

Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress
por: Goutaki, Myrofora, et al.
Publicado: (2020)

Study protocol: the ear–nose–throat (ENT) prospective international cohort of patients with primary ciliary dyskinesia (EPIC-PCD)
por: Goutaki, Myrofora, et al.
Publicado: (2021)

NPHP proteins: gatekeepers of the ciliary compartment
por: Omran, Heymut
Publicado: (2010)

Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report
por: Kuehni, Claudia E., et al.
Publicado: (2017)

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil
por: Olm, Mary Anne Kowal, et al.
Publicado: (2019)

Accuracy of diagnostic testing in primary ciliary dyskinesia
por: Jackson, Claire L., et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_ut0li452dt09vh3n5gtltaspa2