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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 6"
Page 1
Motile ciliopathies.
Wallmeier J, Nielsen KG, Kuehni CE, Lucas JS, Leigh MW, Zariwala MA, Omran H. Wallmeier J, et al. Nat Rev Dis Primers. 2020 Sep 17;6(1):77. doi: 10.1038/s41572-020-0209-6. Nat Rev Dis Primers. 2020. PMID: 32943623 Review.
If mucociliary clearance in the respiratory epithelium is severely impaired, the disorder is referred to as primary ciliary dyskinesia, the most common motile ciliopathy. No single test can confirm a diagnosis of motile ciliopathy, which is based on a combina …
If mucociliary clearance in the respiratory epithelium is severely impaired, the disorder is referred to as primary ciliary …
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. ...Notably, postinfectious bronchiolitis obliterans (PIBO) as first presentation was found in 8% of children ( …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum am …
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 …
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. ...To validate study findings, a similar analysis was p …
Pathogenic variants represented 91 genes implicated in hereditary cancer, X-linked intellectual disability, primary ciliary …
Polydactyly.
Society for Maternal-Fetal Medicine; Rac MWF, McKinney J, Gandhi M. Society for Maternal-Fetal Medicine, et al. Am J Obstet Gynecol. 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. Am J Obstet Gynecol. 2019. PMID: 31787158 No abstract available.
Editorial.
Kyriacou K, Yiallouros P. Kyriacou K, et al. Ultrastruct Pathol. 2017 Nov-Dec;41(6):370-372. doi: 10.1080/01913123.2017.1367361. Epub 2017 Sep 5. Ultrastruct Pathol. 2017. PMID: 28872924 No abstract available.
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 …
Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings.
Oh J, Lee JS, Park MS, Kang YA, Cho HJ, Kim SY, Jung J, Yoon SO, Kim KW. Oh J, et al. Yonsei Med J. 2024 Jan;65(1):48-54. doi: 10.3349/ymj.2023.0238. Yonsei Med J. 2024. PMID: 38154480 Free PMC article.
PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of primary ciliary dyskinesia (PCD) in the Korean population. MATERIALS AND METHODS: Forty-seven patients clinically suspected o …
PURPOSE: To assess the diagnostic potential of whole-exome sequencing (WES) and elucidate the clinical and genetic characteristics of pri …
Primary ciliary dyskinesia and newborn respiratory distress.
Ferkol T, Leigh M. Ferkol T, et al. Semin Perinatol. 2006 Dec;30(6):335-40. doi: 10.1053/j.semperi.2005.11.001. Semin Perinatol. 2006. PMID: 17142159 Review.
Recently, neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary dyskinesia, indicating that this is an important symptom complex in early life for this condition. The diagnosis requires a high index …
Recently, neonatal respiratory distress has been found to be a common clinical presentation of patients with primary ciliary …
Clinical features and management of children with primary ciliary dyskinesia in England.
Rubbo B, Best S, Hirst RA, Shoemark A, Goggin P, Carr SB, Chetcuti P, Hogg C, Kenia P, Lucas JS, Moya E, Narayanan M, O'Callaghan C, Williamson M, Walker WT; English National Children’s PCD Management Service. Rubbo B, et al. Arch Dis Child. 2020 Aug;105(8):724-729. doi: 10.1136/archdischild-2019-317687. Epub 2020 Mar 10. Arch Dis Child. 2020. PMID: 32156696
OBJECTIVE: In England, the National Health Service commissioned a National Management Service for children with primary ciliary dyskinesia (PCD). The aims of this study were to describe the health of children seen in this Service and compare lung function to …
OBJECTIVE: In England, the National Health Service commissioned a National Management Service for children with primary ciliary …
250 results