[HTML][HTML] Diagnosis of primary ciliary dyskinesia

M Goutaki, A Shoemark - Clinics in chest medicine, 2022 - chestmed.theclinics.com
Primary ciliary dyskinesia (PCD) is a rare multiorgan disease caused by genetic mutations
resulting in defects in motile cilia. Because cilia are responsible for clearing the secretions …

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

MR Knowles, LA Daniels, SD Davis… - American journal of …, 2013 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …

An international registry for primary ciliary dyskinesia

C Werner, M Lablans, M Ataian, J Raidt… - European …, 2016 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder leading to chronic
upper and lower airway disease. Fundamental data on epidemiology, clinical presentation …

Diagnosing primary ciliary dyskinesia: an international patient perspective

L Behan, AD Galvin, B Rubbo… - European …, 2016 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-
pulmonary disease, with symptoms starting soon after birth. A European Respiratory Society …

[HTML][HTML] Clinical care for primary ciliary dyskinesia: current challenges and future directions

B Rubbo, JS Lucas - European Respiratory Review, 2017 - Eur Respiratory Soc
Primary ciliary dyskinesia (PCD) is a rare genetic disease that affects the motility of cilia,
leading to impaired mucociliary clearance. It is estimated that the vast majority of patients …

[HTML][HTML] Diagnosis and management of primary ciliary dyskinesia

C Werner, JG Onnebrink, H Omran - Cilia, 2015 - Springer
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder with defective
structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory …

Primary ciliary dyskinesia: diagnostic and phenotypic features

PG Noone, MW Leigh, A Sannuti, SL Minnix… - American journal of …, 2004 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by abnormalities in
ciliary structure/function. We hypothesized that the major clinical and biologic phenotypic …

Primary ciliary dyskinesia

A Shoemark, K Harman - Seminars in respiratory and critical …, 2021 - thieme-connect.com
Primary ciliary dyskinesia (PCD) is an inherited cause of bronchiectasis. The estimated PCD
prevalence in children with bronchiectasis is up to 26% and in adults with bronchiectasis is 1 …

Primary ciliary dyskinesia

LJ Lobo, MA Zariwala, PG Noone - QJM: An International …, 2014 - academic.oup.com
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and
function, leading to chronic infections of the respiratory tract, fertility problems and disorders …

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy

A Bush, C Hogg - Expert review of respiratory medicine, 2012 - Taylor & Francis
Human cilia were once thought merely to be important in respiratory mucociliary clearance,
with primary ciliary dyskinesia (PCD) the sole manifestation of ciliary dysfunction. There are …