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 …
cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately …
Primary ciliary dyskinesia
J Lobo, MA Zariwala, PG Noone - Seminars in respiratory and …, 2015 - thieme-connect.com
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure,
function, and biogenesis leading to chronic infections of the respiratory tract, fertility …
function, and biogenesis leading to chronic infections of the respiratory tract, fertility …
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 …
resulting in defects in motile cilia. Because cilia are responsible for clearing the secretions …
The challenges of diagnosing primary ciliary dyskinesia
MW Leigh, C O'Callaghan… - Proceedings of the …, 2011 - atsjournals.org
Primary ciliary dyskinesia (PCD) is a rare genetic disorder of ciliary structure and function.
The diagnosis can be challenging, particularly when using nongenetic assays. The “gold …
The diagnosis can be challenging, particularly when using nongenetic assays. The “gold …
Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies
V Mirra, C Werner, F Santamaria - Frontiers in pediatrics, 2017 - frontiersin.org
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …
inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1 …
Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia
MW Leigh, A Horani, BA Kinghorn… - … science of rare …, 2019 - content.iospress.com
Primary ciliary dyskinesia (PCD) is a genetic disorder of motile cilia. Clinical features include
chronic oto-sinopulmonary disease, laterality defects, and male fertility reflecting impaired …
chronic oto-sinopulmonary disease, laterality defects, and male fertility reflecting impaired …
Primary ciliary dyskinesia, an orphan disease
M Boon, M Jorissen, M Proesmans… - European journal of …, 2013 - Springer
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease, caused by specific
primary structural and/or functional abnormalities of the motile cilia, in contrast with the …
primary structural and/or functional abnormalities of the motile cilia, in contrast with the …
Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report
Key points Primary ciliary dyskinesia (PCD) is a genetically and clinically heterogeneous
disease characterised by abnormal motile ciliary function. There is no “gold standard” …
disease characterised by abnormal motile ciliary function. There is no “gold standard” …
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics
KS Gravesande, H Omran - Annals of medicine, 2005 - Taylor & Francis
Primary ciliary dyskinesia (PCD) is a phenotypically and genetically heterogeneous disorder
with an autosomal‐recessive inheritance pattern. Only rarely other modes of inheritance …
with an autosomal‐recessive inheritance pattern. Only rarely other modes of inheritance …
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 …
structure and/or function of motile cilia/flagella, causing chronic upper and lower respiratory …