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
2009 1
2010 1
2011 1
2012 3
2013 2
2014 1
2019 3
2020 2
2022 2
2023 0

Text availability

Article attribute

Article type

Publication date

Search Results

11 results

Results by year

Filters applied: . Clear all
Page 1
Primary ciliary dyskinesia in the genomics age.
Lucas JS, Davis SD, Omran H, Shoemark A. Lucas JS, et al. Lancet Respir Med. 2020 Feb;8(2):202-216. doi: 10.1016/S2213-2600(19)30374-1. Epub 2019 Oct 14. Lancet Respir Med. 2020. PMID: 31624012 Review.
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. ...Next-generation sequencing has increased gene discovery, and mutations in more than 40 genes have been reported to cause primary ciliary dyskinesia …
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. ...Next-generation sequencing has in …
Sperm defects in primary ciliary dyskinesia and related causes of male infertility.
Sironen A, Shoemark A, Patel M, Loebinger MR, Mitchison HM. Sironen A, et al. Cell Mol Life Sci. 2020 Jun;77(11):2029-2048. doi: 10.1007/s00018-019-03389-7. Epub 2019 Nov 28. Cell Mol Life Sci. 2020. PMID: 31781811 Free PMC article. Review.
However, recent studies in human patients, animal models and model organisms have indicated that there are differences in components of specific structures within the cilia and sperm tail axonemes. Primary ciliary dyskinesia (PCD) is a genetic disease with sy …
However, recent studies in human patients, animal models and model organisms have indicated that there are differences in components of spec …
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies.
Van De Weghe JC, Gomez A, Doherty D. Van De Weghe JC, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:301-329. doi: 10.1146/annurev-genom-121321-093528. Epub 2022 Jun 2. Annu Rev Genomics Hum Genet. 2022. PMID: 35655331 Free PMC article. Review.
The JS phenotype alone is caused by pathogenic variants in more than 40 genes; remarkably, all of the associated proteins function in and around the primary cilium. Primary cilia are near-ubiquitous, microtubule-based organelles that play crucial roles in dev …
The JS phenotype alone is caused by pathogenic variants in more than 40 genes; remarkably, all of the associated proteins function in …
[Primary ciliary dyskinesia: a retrospective review of clinical and paraclinical data].
Beucher J, Chambellan A, Segalen J, Deneuville E. Beucher J, et al. Rev Mal Respir. 2011 Sep;28(7):856-63. doi: 10.1016/j.rmr.2011.02.014. Epub 2011 Sep 3. Rev Mal Respir. 2011. PMID: 21943530 Review. French.
INTRODUCTION: Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliary function. ...These subjects had defects in ciliary structure, 59% in the dynein arms, 35% in the central complex and 6% having …
INTRODUCTION: Primary ciliary dyskinesia (PCD) is an inherited disease responsible for a disruption of normal ciliar …
The ciliary pocket.
Benmerah A. Benmerah A. Curr Opin Cell Biol. 2013 Feb;25(1):78-84. doi: 10.1016/j.ceb.2012.10.011. Epub 2012 Nov 13. Curr Opin Cell Biol. 2013. PMID: 23153502 Free article. Review.
Cilia are fascinating highly conserved organelles shared by very different organisms from unicellular eukaryotes to vertebrates where they are involved in motility and sensory functions. In vertebrates, the function of the primary cilium, a unique nonmotile cilium f …
Cilia are fascinating highly conserved organelles shared by very different organisms from unicellular eukaryotes to vertebrates where they a …
Nitric oxide in primary ciliary dyskinesia.
Walker WT, Jackson CL, Lackie PM, Hogg C, Lucas JS. Walker WT, et al. Eur Respir J. 2012 Oct;40(4):1024-32. doi: 10.1183/09031936.00176111. Epub 2012 Mar 9. Eur Respir J. 2012. PMID: 22408195 Free article. Review.
Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by recurrent sinopulmonary infections due to impaired mucociliary clearance. . …
Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in response to infection or inflammation. Primar …
[Primary ciliary dyskinesia: clinical and genetic aspects].
D'Auria E, Palazzo S, Argirò S, El OS, Riva E. D'Auria E, et al. Pediatr Med Chir. 2012 May-Jun;34(3):117-22. doi: 10.4081/pmc.2012.76. Pediatr Med Chir. 2012. PMID: 22966723 Review. Italian.
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease, characterized by ciliary disfunction and impaired mucociliary clearance, resulting in a range of clinical manifestations such as chronic bronchitis, bronchiectasis, chronic …
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease, characterized by ciliary disfunct …
[Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia].
Wang L, Xu B, Gao L. Wang L, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):433-437. doi: 10.3760/cma.j.cn511374-20201222-00898. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35446983 Review. Chinese.
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity. ...Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD. So far more than …
Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with substantial genetic and phenotypi …
[Primary ciliary dyskinesia. Ciliopathies].
Armengot Carceller M, Mata Roig M, Milara Payá X, Cortijo Gimeno J. Armengot Carceller M, et al. Acta Otorrinolaringol Esp. 2010 Mar-Apr;61(2):149-59. doi: 10.1016/j.otorri.2009.01.013. Epub 2009 Oct 8. Acta Otorrinolaringol Esp. 2010. PMID: 19818430 Free article. Review. Spanish.
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. ...The wide distribution and functions of the cilia in the body mean that this dysfunction can generate other ciliopathies apart from primary …
Primary ciliary dyskinesia is a genetically inherited syndrome characterized by cilia immotility or dysmotility. ...The …
Overcoming challenges in the management of primary ciliary dyskinesia: the UK model.
Lucas JS, Chetcuti P, Copeland F, Hogg C, Kenny T, Moya E, O'Callaghan C, Walker WT. Lucas JS, et al. Paediatr Respir Rev. 2014 Jun;15(2):142-5. doi: 10.1016/j.prrv.2013.04.007. Epub 2013 Jun 12. Paediatr Respir Rev. 2014. PMID: 23764568 Review.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease associated with bronchiectasis, chronic rhinosinusitis, infertility and situs inversus. Estimates of prevalence vary widely, but is probably between 1:10,000- 1:40,000 in most populatio …
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease associated with bronchiectasis, chronic rhinosinusit …
11 results