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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 3"
Page 1
Clinical and Genetic Spectrum of Children With Primary Ciliary Dyskinesia in China.
Guan Y, Yang H, Yao X, Xu H, Liu H, Tang X, Hao C, Zhang X, Zhao S, Ge W, Ni X. Guan Y, et al. Chest. 2021 May;159(5):1768-1781. doi: 10.1016/j.chest.2021.02.006. Epub 2021 Feb 10. Chest. 2021. PMID: 33577779 Free PMC article.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum among populations worldwide. ...Genes with the highest incidence of mutations were DNAH11 (15/51), followed by DNAH5 (9/51), CCDC39 (5/51), DN …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum am …
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 …
Syndromic infertility.
Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M. Guerri G, et al. Acta Biomed. 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. Acta Biomed. 2019. PMID: 31577259 Free PMC article. Review.
Primary ciliary dyskinesia is a group of genetically and phenotypically heterogeneous disorders that show morpho-structural alterations of the cilia. Adult women with primary ciliary dyskinesia can be subfertile and have an increas …
Primary ciliary dyskinesia is a group of genetically and phenotypically heterogeneous disorders that show morpho …
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 …
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H, Farwell KD, Vuong H, Lu HM, Mu W, Shahmirzadi L, Tang S, Chen J, Bhide S, Chao EC. LaDuca H, et al. PLoS One. 2017 Feb 2;12(2):e0170843. doi: 10.1371/journal.pone.0170843. eCollection 2017. PLoS One. 2017. PMID: 28152038 Free PMC article.
Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary dyskinesia, Marfan syndrome/aortic aneurysms, cardiomyopathies and arrhythmias. ...All pathogenic variants had at least some coverage o …
Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary …
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 …
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.
Diagnosis of primary ciliary dyskinesia.
Olm MA, Caldini EG, Mauad T. Olm MA, et al. J Bras Pneumol. 2015 May-Jun;41(3):251-63. doi: 10.1590/S1806-37132015000004447. J Bras Pneumol. 2015. PMID: 26176524 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. ...We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details relat …
Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. ...We review the respir …
Primary ciliary dyskinesia.
Bush A. Bush A. Acta Otorhinolaryngol Belg. 2000;54(3):317-24. Acta Otorhinolaryngol Belg. 2000. PMID: 11082768 Review.
Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abnormalities of cilia. ...Diagnosis is with a combination of the saccharine test, nasal nitric oxide, ciliary beat frequency and electr …
Primary ciliary dyskinesia (PCD) is an inherited condition characterised by functional and/or structural congenital abn …
Cilia and Ear.
Piatti G, De Santi MM, Torretta S, Pignataro L, Soi D, Ambrosetti U. Piatti G, et al. Ann Otol Rhinol Laryngol. 2017 Apr;126(4):322-327. doi: 10.1177/0003489417691299. Epub 2017 Feb 12. Ann Otol Rhinol Laryngol. 2017. PMID: 28290230
OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in adulthood. METHODS: Twenty-three patients with diagnosed PCD underwent medical history aimed at recording the presence of ear, nose, and thro …
OBJECTIVE: To investigate the prevalence of otological complications derived from primary ciliary dyskinesia (PCD) in a …
320 results