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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 15"
Page 1
Understanding Primary Ciliary Dyskinesia and Other Ciliopathies.
Horani A, Ferkol TW. Horani A, et al. J Pediatr. 2021 Mar;230:15-22.e1. doi: 10.1016/j.jpeds.2020.11.040. Epub 2020 Nov 23. J Pediatr. 2021. PMID: 33242470 Free PMC article. Review.
Motile and primary (sensory) cilia are essential structures and have wide ranging functions. Our understanding of the genetics, pathophysiology, and clinical manifestations of motile ciliopathies, including primary ciliary dyskinesia (PCD), has rapidly …
Motile and primary (sensory) cilia are essential structures and have wide ranging functions. Our understanding of the genetics, patho …
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 (6/7 …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a heterogeneous disease with a diverse clinical and genetic spectrum am …
Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.
Jiao SY, Yang YH, Chen SR. Jiao SY, et al. Hum Reprod Update. 2021 Jan 4;27(1):154-189. doi: 10.1093/humupd/dmaa034. Hum Reprod Update. 2021. PMID: 33118031 Review.
BACKGROUND: Infertility is a major issue in human reproductive health, affecting an estimated 15% of couples worldwide. Infertility can result from disorders of sex development (DSD) or from reproductive endocrine disorders (REDs) with onset in infancy, early …
BACKGROUND: Infertility is a major issue in human reproductive health, affecting an estimated 15% of couples worldwide. Infertility c …
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.
Le Mauviel L. Le Mauviel L. West J Med. 1991 Sep;155(3):280-3. West J Med. 1991. PMID: 1949776 Free PMC article. Review.
Primary ciliary dyskinesia represents a group of heritable disorders of cilia and sperm affecting between 1 in 15,000 and 1 in 30,000 persons. ...Screening for this disorder includes some simple and inexpensive methods as well as more exotic tec …
Primary ciliary dyskinesia represents a group of heritable disorders of cilia and sperm affecting between 1 in …
Primary ciliary dyskinesia and psychological well-being in adolescence.
Valero-Moreno S, Castillo-Corullón S, Montoya-Castilla I, Pérez-Marín M. Valero-Moreno S, et al. PLoS One. 2020 Jan 23;15(1):e0227888. doi: 10.1371/journal.pone.0227888. eCollection 2020. PLoS One. 2020. PMID: 31971980 Free PMC article.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with low prevalence in pediatrics. ...In QCA models, the variables that best explained the high or low levels of well-being were depression and self-esteem, and primary ciliary …
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disease with low prevalence in pediatrics. ...In QCA mod …
What is the evidence for genetics in chronic rhinosinusitis?
Yoo F, Suh JD. Yoo F, et al. Curr Opin Otolaryngol Head Neck Surg. 2017 Feb;25(1):54-63. doi: 10.1097/MOO.0000000000000329. Curr Opin Otolaryngol Head Neck Surg. 2017. PMID: 27841768 Review.
PURPOSE OF REVIEW: To perform analysis of evidence in current literature on the topic of genetics and chronic rhinosinusitis (CRS), with a particular focus on recent findings in the cystic fibrosis transmembrane regulator (CFTR), genes associated with primary ciliary …
PURPOSE OF REVIEW: To perform analysis of evidence in current literature on the topic of genetics and chronic rhinosinusitis (CRS), with a p …
Genetic factors contributing to human primary ciliary dyskinesia and male infertility.
Ji ZY, Sha YW, Ding L, Li P. Ji ZY, et al. Asian J Androl. 2017 Sep-Oct;19(5):515-520. doi: 10.4103/1008-682X.181227. Asian J Androl. 2017. PMID: 27270341 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only …
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from the loss of normal ciliary fu …
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.
Knowles MR, Daniels LA, Davis SD, Zariwala MA, Leigh MW. Knowles MR, et al. Am J Respir Crit Care Med. 2013 Oct 15;188(8):913-22. doi: 10.1164/rccm.201301-0059CI. Am J Respir Crit Care Med. 2013. PMID: 23796196 Free PMC article. Review.
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-sino-pulmonary diseases and organ laterality defects in approximately 50% of cases. The estimated incidence of PCD is approximately 1 per 1 …
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia that leads to oto-si …
Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia.
Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF. Goutaki M, et al. JAMA Otolaryngol Head Neck Surg. 2023 Jul 1;149(7):587-596. doi: 10.1001/jamaoto.2023.0841. JAMA Otolaryngol Head Neck Surg. 2023. PMID: 37166807
IMPORTANCE: Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about its spectrum and severity. ...RESULTS: A total of 397 individuals were eligible to participate in this study (median [range] age, 15.2 …
IMPORTANCE: Otologic disease is common among people with primary ciliary dyskinesia (PCD), yet little is known about it …
109 results