Cargando…

Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic

Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. Several mutations with varied clinical and pathological features have been documented, maki...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tinoco, Eduarda Milheiro, Gigante, Ana Rita, Ferreira, Edite, Sanches, Inês, Pereira, Rute, Sá, Rosália, Monteiro, Regina, Sousa, Mário, Pascoal, Ivone
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Brief Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048503/ https://www.ncbi.nlm.nih.gov/pubmed/36980814 http://dx.doi.org/10.3390/genes14030541

Ejemplares similares

Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis
por: Contarini, Martina, et al.
Publicado: (2018)

Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype
por: Staar, Ben O., et al.
Publicado: (2023)

Bronchiectasis Assessment in Primary Ciliary Dyskinesia: A Non-Invasive Approach Using Forced Oscillation Technique
por: De Jesús-Rojas, Wilfredo, et al.
Publicado: (2023)

CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia
por: Sampaio, Pedro, et al.
Publicado: (2021)

Etiological Work-Up for Adults with Bronchiectasis: A Predictive Diagnostic Score for Primary Ciliary Dyskinesia and Cystic Fibrosis
por: Schlemmer, Frederic, et al.
Publicado: (2021)

Diagnosis of primary ciliary dyskinesia
por: Olm, Mary Anne Kowal, et al.
Publicado: (2015)

Perspectives for Primary Ciliary Dyskinesia
por: Bukowy-Bieryllo, Zuzanna, et al.
Publicado: (2022)

Use of Next-Generation Sequencing to Support the Diagnosis of Familial Interstitial Pneumonia
por: Gigante, Ana Rita, et al.
Publicado: (2023)

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
por: Papon, J-F, et al.
Publicado: (2012)

Diagnosis and management of primary ciliary dyskinesia
por: Lucas, Jane S, et al.
Publicado: (2014)

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

Primary ciliary dyskinesia: mechanisms and management
por: Damseh, Nadirah, et al.
Publicado: (2017)

Mucus Plugging in Primary Ciliary Dyskinesia
por: Adaikalam, Stephanie, et al.
Publicado: (2023)

Towards gene therapy for primary ciliary dyskinesia
por: Munye, M, et al.
Publicado: (2012)

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

Recent advances in primary ciliary dyskinesia genetics
por: Kurkowiak, Małgorzata, et al.
Publicado: (2015)

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis
por: Suzaki, Isao, et al.
Publicado: (2020)

The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia
por: Shoemark, Amelia, et al.
Publicado: (2020)

Management of a child with primary ciliary dyskinesia
por: Kumar, Aneeta, et al.
Publicado: (2020)

Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia
por: Machogu, Evans, et al.
Publicado: (2021)

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

A Study on the Genetics of Primary Ciliary Dyskinesia
por: Alsamri, Mohammed T., et al.
Publicado: (2021)

The Genetics of Primary Ciliary Dyskinesia in Puerto Rico
por: De Jesús-Rojas, Wilfredo, et al.
Publicado: (2022)

Reversible Bronchial Obstruction in Primary Ciliary Dyskinesia
por: Levine, Hagit, et al.
Publicado: (2022)

Lung Function in Children with Primary Ciliary Dyskinesia
por: Ferraro, Valentina Agnese, et al.
Publicado: (2023)

Olfaction and Gustation in Children With Primary Ciliary Dyskinesia
por: Zawawi, Faisal, et al.
Publicado: (2023)

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
por: Papon, Jean-François, et al.
Publicado: (2012)

Ciliary Genes Are Down-Regulated in Bronchial Tissue of Primary Ciliary Dyskinesia Patients
por: Geremek, Maciej, et al.
Publicado: (2014)

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia()
por: Chilvers, Mark A, et al.
Publicado: (2003)

Characterization of a DRC1 null variant associated with primary ciliary dyskinesia and female infertility
por: Pereira, R., et al.
Publicado: (2023)

Primary Ciliary Dyskinesia as a Cause of Repeating Atelectasis in the Neonatal Period
por: Primo, Arlete Esteves Lopes, et al.
Publicado: (2020)

Restoring ciliary function to differentiated Primary Ciliary Dyskinesia cells with a lentiviral vector
por: Ostrowski, Lawrence E, et al.
Publicado: (2014)

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

Diagnosing primary ciliary dyskinesia: an international patient perspective
por: Behan, Laura, et al.
Publicado: (2016)

Primary ciliary dyskinesia and psychological well-being in adolescence
por: Valero-Moreno, Selene, et al.
Publicado: (2020)

The genetics of situs inversus without primary ciliary dyskinesia
por: Postema, Merel C., et al.
Publicado: (2020)

Registries and collaborative studies for primary ciliary dyskinesia in Europe
por: Ardura-Garcia, Cristina, et al.
Publicado: (2020)

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia
por: Wheway, Gabrielle, et al.
Publicado: (2021)

Diagnostics and Management of Male Infertility in Primary Ciliary Dyskinesia
por: Jayasena, Channa N., et al.
Publicado: (2021)

Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia
por: Brennan, Steven K, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_acggtlprqa6v7rh401cg0ut38n