[HTML][HTML] Emerging genotype-phenotype relationships in primary ciliary dyskinesia
SK Brennan, TW Ferkol, SD Davis - International journal of molecular …, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and
leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and …
leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and …
In children with primary ciliary dyskinesia, which type of lung function test is the earliest determinant of decline in lung health: A systematic review
A Zafar, M Hall - Pediatric pulmonology, 2023 - Wiley Online Library
Background Primary ciliary dyskinesia is a rare genetic disorder characterized by recurrent
sinopulmonary infections and worsening obstructive lung disease. Kidney and brain …
sinopulmonary infections and worsening obstructive lung disease. Kidney and brain …
Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations
J Raidt, S Riepenhausen, P Pennekamp… - European …, 2024 - Eur Respiratory Soc
Background Primary ciliary dyskinesia (PCD) represents a group of rare hereditary disorders
characterized by deficient ciliary airway clearance that can be associated with laterality …
characterized by deficient ciliary airway clearance that can be associated with laterality …
[HTML][HTML] Lung function in children with primary ciliary dyskinesia
VA Ferraro, RJ Castaldo, V Tonazzo, S Zanconato… - Children, 2023 - mdpi.com
Background: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary
clearance that results in accumulation of mucus and bacteria in the airways. Lower …
clearance that results in accumulation of mucus and bacteria in the airways. Lower …
Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary …
JK Marthin, MG Holgersen, KG Nielsen… - ERJ Open …, 2023 - Eur Respiratory Soc
Background Pulmonary radioaerosol mucociliary clearance (PRMC) is a reliable method for
assessing in vivo whole lung mucociliary clearance and has been used at the Danish PCD …
assessing in vivo whole lung mucociliary clearance and has been used at the Danish PCD …
Quantitative 99mTc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia
Background Primary ciliary dyskinesia (PCD) is an inherited disorder in which dyskinetic
cilia cause impaired mucociliary clearance of upper and lower airways. Airway ciliary …
cilia cause impaired mucociliary clearance of upper and lower airways. Airway ciliary …
[HTML][HTML] Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype
LE Ostrowski, W Yin, AJ Smith, PR Sears… - International Journal of …, 2022 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare lung disease caused by mutations that impair the
function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced …
function of motile cilia, resulting in chronic upper and lower respiratory disease, reduced …
[HTML][HTML] COVID-19 vaccinations: perceptions and behaviours in people with primary ciliary dyskinesia
ESL Pedersen, MC Mallet, YT Lam, S Bellu, I Cizeau… - Vaccines, 2021 - mdpi.com
Primary ciliary dyskinesia (PCD) is a rare genetic disease that causes recurrent respiratory
infections. People with PCD may be at higher risk of severe coronavirus disease 2019 …
infections. People with PCD may be at higher risk of severe coronavirus disease 2019 …
The genetic framework of primary ciliary dyskinesia assessed by soft computing analysis
M Pifferi, AL Boner, A Cangiotti, A Cudazzo… - Pediatric …, 2024 - Wiley Online Library
Background International guidelines disagree on how best to diagnose primary ciliary
dyskinesia (PCD), not least because many tests rely on pattern recognition. We …
dyskinesia (PCD), not least because many tests rely on pattern recognition. We …
Longitudinal Nitric Oxide Levels and Infections by Ultrastructure and Genotype in Primary Ciliary Dyskinesia
M Pifferi, AL Boner, S Gracci, R Fonnesu, D Maj… - Chest, 2022 - Elsevier
Background We hypothesized that differences in nasal nitric oxide (nNO) and fractional
exhaled nitric oxide (F eno) relate to prognosis in primary ciliary dyskinesia (PCD) …
exhaled nitric oxide (F eno) relate to prognosis in primary ciliary dyskinesia (PCD) …