Results 161 to 170 of about 4,530,510 (207)

Biallelic <i>RSPH4A</i> loss-of-function variants cause primary ciliary dyskinesia in a Chinese patient. [PDF]

Front Genet
Lu YT, Tang HY, Chen K, Lai DY, Wang DC, Yang F.   +5 more
europepmc   +1 more source

Defining and Diagnosing Primary Ciliary Dyskinesia. [PDF]

Rhinol Online
McCain MN, Fulcher ML, Clapp PW, Thorp BD, Senior BA, Davis SD, Ferkol TW, Randell SH, Kimple AJ.   +8 more
europepmc   +1 more source

The Relationship Between Structural and Functional Pulmonary Status and Quality of Life in Children With Primary Ciliary Dyskinesia. [PDF]

Pediatr Pulmonol
Sarıhan NH, Oksay SC, Bozbeyoğlu SG, Girit S.   +3 more
europepmc   +1 more source

Clinical and Genetic Study of a Pseudo-Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1-Associated Family Reported in Chinese Population. [PDF]

Mol Genet Genomic Med
Guo Z, Li P, Jiang G, Chen W.
europepmc   +1 more source

Primary Ciliary Dyskinesia-Current Diagnostic and Therapeutic Approach. [PDF]

J Clin Med
Wrona J, Krupa Z, Zawadzka M, Rydzek J, Dorobisz K, Bania J.   +5 more
europepmc   +1 more source

Nutrition and growth of primary ciliary dyskinesia (PCD) patients: a systematic review

Karavasiloglou N, Gkatzou V, Fernandez-Rodriguez A, Schwartz V, Goutaki M.   +4 more
europepmc   +1 more source

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Primary ciliary dyskinesia

La Presse Médicale, 2023
Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and genetically heterogeneous, with more than 50 genes involved. Thanks to genetic, clinical, and functional characterization, immense progress has been made in the understanding and diagnosis of PCD ...
Johanna Raidt, Niki Tomas Loges, Heike Olbrich, Julia Wallmeier, Petra Pennekamp, Heymut Omran   +5 more
openaire   +3 more sources

Primary Ciliary Dyskinesia

Seminars in Respiratory and Critical Care Medicine, 2021
AbstractPrimary 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 to 13%. Due to dysfunction of the multiple motile cilia of the respiratory tract patients suffer from poor mucociliary clearance.
Shoemark, Amelia, Harman, Katharine
openaire   +3 more sources

Primary Ciliary Dyskinesia: Ciliary Activity

Acta Oto-Laryngologica, 1986
In primary ciliary dyskinesia (PCD) the cilia of the respiratory tract are immotile or they show an incoordinate, abnormal beating pattern. Consequently, mucociliary clearance is lacking. Most patients with PCD have ultrastructural abnormalities in their cilia. In some patients, however, the ciliary ultrastructure is completely normal.
van der Baan, S., Veerman, A. J., Wulffraat, N., Bezemer, P. D., Feenstra, L.   +4 more
openaire   +3 more sources