Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1983 1
1986 1
1988 1
1996 1
1997 1
1998 1
1999 1
2000 2
2001 3
2002 1
2003 3
2005 2
2008 1
2009 3
2010 5
2011 3
2012 6
2013 5
2014 8
2015 6
2016 5
2017 7
2018 3
2019 6
2020 8
2021 9
2022 10
2023 6
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

99 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 11"
Page 1
Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial.
Ringshausen FC, Shapiro AJ, Nielsen KG, Mazurek H, Pifferi M, Donn KH, van der Eerden MM, Loebinger MR, Zariwala MA, Leigh MW, Knowles MR, Ferkol TW; CLEAN-PCD investigators and study team. Ringshausen FC, et al. Lancet Respir Med. 2024 Jan;12(1):21-33. doi: 10.1016/S2213-2600(23)00226-6. Epub 2023 Aug 31. Lancet Respir Med. 2024. PMID: 37660715 Clinical Trial.
BACKGROUND: Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia, resulting in the accumulation of dehydrated mucus in the airways that is difficult to clear. ...INTERPRETATION: In this phase 2 crossover study, idrevloride in hyper …
BACKGROUND: Mucociliary clearance is dysfunctional in people with primary ciliary dyskinesia, resulting in the accumula …
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Leigh MW, et al. Genet Med. 2009 Jul;11(7):473-87. doi: 10.1097/GIM.0b013e3181a53562. Genet Med. 2009. PMID: 19606528 Free PMC article. Review.
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. ...Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. ...
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. ...Clinical molecular genetic testi …
The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A, Gupta DK, Xu J, Xu H, Carmen Puga-Molina LD, Santi CM, Ramagiri S, Brennan SK, Pan J, Koenitzer JR, Huang T, Hyland RM, Gunsten SP, Tzeng SC, Strahle JM, Mill P, Mahjoub MR, Dutcher SK, Brody SL. Horani A, et al. JCI Insight. 2023 Jun 8;8(11):e168836. doi: 10.1172/jci.insight.168836. JCI Insight. 2023. PMID: 37104040 Free PMC article.
DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ciliary dyskinesia (PCD). The effects of allele heterozygosity on motile cilia function are unknown. ...However, animals homozygous …
DNAAF5 is a dynein motor assembly factor associated with the autosomal heterogenic recessive condition of motile cilia, primary ci …
Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China.
Guo Z, Chen W, Wang L, Qian L. Guo Z, et al. J Pediatr. 2020 Oct;225:157-165.e5. doi: 10.1016/j.jpeds.2020.05.052. Epub 2020 Jun 2. J Pediatr. 2020. PMID: 32502479
OBJECTIVE: To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/genotype correlation in primary ciliary dyskinesia (PCD) in Chinese children. ...However, variable phenotypes were also …
OBJECTIVE: To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/ …
Otolaryngology Manifestations of Primary Ciliary Dyskinesia: A Multicenter Study.
Zawawi F, Shapiro AJ, Dell S, Wolter NE, Marchica CL, Knowles MR, Zariwala MA, Leigh MW, Smith M, Gajardo P, Daniel SJ. Zawawi F, et al. Otolaryngol Head Neck Surg. 2022 Mar;166(3):540-547. doi: 10.1177/01945998211019320. Epub 2021 Jun 22. Otolaryngol Head Neck Surg. 2022. PMID: 34154450 Free PMC article.
OBJECTIVE: This project aims to prospectively and objectively assess otolaryngological manifestations and quality of life of children with primary ciliary dyskinesia (PCD) and compare these findings with healthy pediatric controls. ...The most common bacteria …
OBJECTIVE: This project aims to prospectively and objectively assess otolaryngological manifestations and quality of life of children with …
Airway Disease in Children with Primary Ciliary Dyskinesia: Impact of Ciliary Ultrastructure Defect and Genotype.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri F, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Mollica F, Tiddens HAWM, Kemner-van de Corput M, Knowles MR, Davis SD, Leigh MW. Kinghorn B, et al. Ann Am Thorac Soc. 2023 Apr;20(4):539-547. doi: 10.1513/AnnalsATS.202206-524OC. Ann Am Thorac Soc. 2023. PMID: 36442147 Free PMC article.
Rationale: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory infections, progressive airway damage, and obstructive lung disease. ...Objectives: We sought to delineate the association of ciliary …
Rationale: Primary ciliary dyskinesia (PCD) is characterized by impaired mucociliary clearance, recurrent respiratory i …
Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.
Kobbernagel HE, Buchvald FF, Haarman EG, Casaulta C, Collins SA, Hogg C, Kuehni CE, Lucas JS, Moser CE, Quittner AL, Raidt J, Rosthøj S, Sørensen AL, Thomsen K, Werner C, Omran H, Nielsen KG. Kobbernagel HE, et al. Lancet Respir Med. 2020 May;8(5):493-505. doi: 10.1016/S2213-2600(20)30058-8. Lancet Respir Med. 2020. PMID: 32380069 Clinical Trial.
BACKGROUND: Use of maintenance antibiotic therapy with the macrolide azithromycin is increasing in a number of chronic respiratory disorders including primary ciliary dyskinesia (PCD). However, evidence for its efficacy in PCD is lacking. ...METHODS: T …
BACKGROUND: Use of maintenance antibiotic therapy with the macrolide azithromycin is increasing in a number of chronic respiratory disord …
Etiology and clinical characteristics of a non-cystic fibrosis bronchiectasis cohort in a middle eastern population.
Shafiq I, Wahla AS, Uzbeck MH, Zoumot Z, Abuzakouk M, Elkhalifa S, Bodi G, Almazrouei KM, Bodi K, Isse S. Shafiq I, et al. BMC Pulm Med. 2023 Jul 10;23(1):250. doi: 10.1186/s12890-023-02543-z. BMC Pulm Med. 2023. PMID: 37430275 Free PMC article.
Forty-eight (18.5%) patients were labelled idiopathic, while Primary Ciliary Dyskinesia (PCD) accounted for 23 (8.8%) cases. Pseudomonas aeruginosa was the most common colonizing organism (32.7%), followed by Haemophilus influenzae (9.2%) and Methicillin-Sens …
Forty-eight (18.5%) patients were labelled idiopathic, while Primary Ciliary Dyskinesia (PCD) accounted for 23 (8.8%) c …
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype.
Davis SD, Ferkol TW, Rosenfeld M, Lee HS, Dell SD, Sagel SD, Milla C, Zariwala MA, Pittman JE, Shapiro AJ, Carson JL, Krischer JP, Hazucha MJ, Cooper ML, Knowles MR, Leigh MW. Davis SD, et al. Am J Respir Crit Care Med. 2015 Feb 1;191(3):316-24. doi: 10.1164/rccm.201409-1672OC. Am J Respir Crit Care Med. 2015. PMID: 25493340 Free PMC article.
RATIONALE: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructural defects and genotype is poorly defined. ...There were no differences in clinical features or respiratory pathogens in subjects with outer …
RATIONALE: The relationship between clinical phenotype of childhood primary ciliary dyskinesia (PCD) and ultrastructura …
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, Irons ZH, Craig SB, Koenig J, George S, Pode-Shakked B, Bolkier Y, Barel O, Mane S, Frederiksen KK, Wenger O, Scott E, Cross HE, Lorentzen E, Norris DP, Anikster Y, Omran H, Grimes DT, Crosby AH, Baple EL. Leslie JS, et al. Genet Med. 2022 Nov;24(11):2249-2261. doi: 10.1016/j.gim.2022.07.019. Epub 2022 Sep 8. Genet Med. 2022. PMID: 36074124 Free PMC article.
PURPOSE: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximately 30% of …
PURPOSE: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary …
99 results