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534 results

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Page 1
Primary ciliary dyskinesia.
Raidt J, Loges NT, Olbrich H, Wallmeier J, Pennekamp P, Omran H. Raidt J, et al. Presse Med. 2023 Sep;52(3):104171. doi: 10.1016/j.lpm.2023.104171. Epub 2023 Jul 27. Presse Med. 2023. PMID: 37516247 Review.
BACKGROUND AND OBJECTIVES: Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders characterized by dysfunction of motile cilia. ...It is critical that we continue to expand our knowledge of this group of rare disorders
BACKGROUND AND OBJECTIVES: Primary ciliary dyskinesia (PCD, ORPHA:244) is a group of rare genetic disorders char …
Diagnosis of Primary Ciliary Dyskinesia.
Goutaki M, Shoemark A. Goutaki M, et al. Clin Chest Med. 2022 Mar;43(1):127-140. doi: 10.1016/j.ccm.2021.11.008. Clin Chest Med. 2022. PMID: 35236553 Free article. Review.
Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to bronchiectasis in most patients. ...
Primary ciliary dyskinesia (PCD) is a rare genetic disease leading to bronchiectasis in most patients. ...
Primary Ciliary Dyskinesia.
Wee WB, Kinghorn B, Davis SD, Ferkol TW, Shapiro AJ. Wee WB, et al. Pediatrics. 2024 Jun 1;153(6):e2023063064. doi: 10.1542/peds.2023-063064. Pediatrics. 2024. PMID: 38695103 Review.
Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by dysfunctional motile cilia and abnormal mucociliary clearance, resulting in chronic sino-oto-pulmonary disease, neonatal respiratory distress, subfertility, and organ laterality defe
Primary ciliary dyskinesia (PCD) is a rare, genetic disease characterized by dysfunctional motile cilia and abnormal mu
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. Impaired function of motile cilia causes failure of mucociliary clearance. ...Developments in genomics and molecular medicine are rapidly improving diagnosis, and a genetic cau
Primary ciliary dyskinesia is a genetically and clinically heterogeneous syndrome. Impaired function of motile cilia ca
Ciliopathies.
Hildebrandt F, Benzing T, Katsanis N. Hildebrandt F, et al. N Engl J Med. 2011 Apr 21;364(16):1533-43. doi: 10.1056/NEJMra1010172. N Engl J Med. 2011. PMID: 21506742 Free PMC article. Review.
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentosa, the Bardet-Biedl syndrome, the Joubert syndrome, and the Meckel syndrome may be categorized as ciliopathies - a recent concept that descr …
Diverse developmental and degenerative single-gene disorders such as polycystic kidney disease, nephronophthisis, retinitis pigmentos …
Primary ciliary dyskinesia.
Lobo J, Zariwala MA, Noone PG. Lobo J, et al. Semin Respir Crit Care Med. 2015 Apr;36(2):169-79. doi: 10.1055/s-0035-1546748. Epub 2015 Mar 31. Semin Respir Crit Care Med. 2015. PMID: 25826585 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leading to chronic infections of the respiratory tract, fertility problems, and disorders of organ laterality. The diagnosis can be challen
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure, function, and biogenesis leadin
Primary Ciliary Dyskinesia.
Knowles MR, Zariwala M, Leigh M. Knowles MR, et al. Clin Chest Med. 2016 Sep;37(3):449-61. doi: 10.1016/j.ccm.2016.04.008. Epub 2016 Jun 30. Clin Chest Med. 2016. PMID: 27514592 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in 50% of cases. ...
Primary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosino
Primary ciliary dyskinesia.
Lobo LJ, Zariwala MA, Noone PG. Lobo LJ, et al. QJM. 2014 Sep;107(9):691-9. doi: 10.1093/qjmed/hcu063. Epub 2014 Mar 19. QJM. 2014. PMID: 24652656 Review.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and function, leading to chronic infections of the respiratory tract, fertility problems and disorders of organ laterality. Making a definitive diagnosis is challeng
Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder of cilia structure and function, leading to chronic
Primary Ciliary Dyskinesia.
Butterfield R. Butterfield R. Pediatr Rev. 2017 Mar;38(3):145-146. doi: 10.1542/pir.2016-0108. Pediatr Rev. 2017. PMID: 28250080 Review. No abstract available.
Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM); Monteagudo A. Society for Maternal-Fetal Medicine (SMFM), et al. Am J Obstet Gynecol. 2020 Dec;223(6):B38-B41. doi: 10.1016/j.ajog.2020.08.184. Epub 2020 Nov 7. Am J Obstet Gynecol. 2020. PMID: 33168220 Review. No abstract available.
534 results