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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 17"
Page 1
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.
Shoemark A, Griffin H, Wheway G, Hogg C, Lucas JS; Genomics England Research Consortium; Camps C, Taylor J, Carroll M, Loebinger MR, Chalmers JD, Morris-Rosendahl D, Mitchison HM, De Soyza A; Genomics England Research Consortium:; Brown D, Ambrose JC, Arumugam P, Bevers R, Bleda M, Boardman-Pretty F, Boustred CR, Brittain H, Caulfield MJ, Chan GC, Fowler T, Giess A, Hamblin A, Henderson S, Hubbard TJP, Jackson R, Jones LJ, Kasperaviciute D, Kayikci M, Kousathanas A, Lahnstein L, Leigh SEA, Leong IUS, Lopez FJ, Maleady-Crowe F, McEntagart M, Minneci F, Moutsianas L, Mueller M, Murugaesu N, Need AC, O'Donovan P, Odhams CA, Patch C, Perez-Gil D, Pereira MB, Pullinger J, Rahim T, Rendon A, Rogers T, Savage K, Sawant K, Scott RH, Siddiq A, Sieghart A, Smith SC, Sosinsky A, Stuckey A, Tanguy M, Taylor Tavares AL, Thomas ERA, Thompson SR, Tucci A, Welland MJ, Williams E, Witkowska K, Wood SM. Shoemark A, et al. Eur Respir J. 2022 Nov 17;60(5):2200176. doi: 10.1183/13993003.00176-2022. Print 2022 Nov. Eur Respir J. 2022. PMID: 35728977 Free article.
BACKGROUND: Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60-80% of cases are idiopathic, but a well-recognised genetic cause is the motile ciliopathy, primary ciliary dyskinesia (PCD). Diagnosis of PCD has management …
BACKGROUND: Bronchiectasis can result from infectious, genetic, immunological and allergic causes. 60-80% of cases are idiopathic, but a wel …
Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.
Peng B, Gao YH, Xie JQ, He XW, Wang CC, Xu JF, Zhang GJ. Peng B, et al. Orphanet J Rare Dis. 2022 Jul 19;17(1):283. doi: 10.1186/s13023-022-02427-1. Orphanet J Rare Dis. 2022. PMID: 35854386 Free PMC article. Review.
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and genetic patterns among populations of different geographic location and ethnic origin. ...More than half of genetic variants were loss-of-functi …
BACKGROUND: Primary ciliary dyskinesia (PCD) represents a highly heterogenous disorder with extensive clinical and gene …
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 in a Portuguese Bronchiectasis Outpatient Clinic.
Tinoco EM, Gigante AR, Ferreira E, Sanches I, Pereira R, Sá R, Monteiro R, Sousa M, Pascoal I. Tinoco EM, et al. Genes (Basel). 2023 Feb 21;14(3):541. doi: 10.3390/genes14030541. Genes (Basel). 2023. PMID: 36980814 Free PMC article.
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the airways and a compromised reproductive system, resulting in male and female infertility. ...Despite the lack of a specific treatment, it is …
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the …
Educational paper: ciliopathies.
Bergmann C. Bergmann C. Eur J Pediatr. 2012 Sep;171(9):1285-300. doi: 10.1007/s00431-011-1553-z. Epub 2011 Sep 7. Eur J Pediatr. 2012. PMID: 21898032 Free PMC article. Review.
They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies. ...Frequent …
They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown …
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC, Ribeiro JD, Marson FAL, Ortiz É, Toro AADC, Bertuzzo CS, Jones MH, Sakano E. Toro MDC, et al. Genes (Basel). 2022 Jul 15;13(7):1252. doi: 10.3390/genes13071252. Genes (Basel). 2022. PMID: 35886035 Free PMC article.
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. ...In this context, we aimed to describe the clinical, genetic, and ultra- …
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations …
Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.
Zhao X, Ge H, Xu W, Cheng C, Zhou W, Xu Y, Fan J, Liu Y, Tian X, Xu KF, Zhang X. Zhao X, et al. Front Med. 2023 Dec;17(6):1236-1249. doi: 10.1007/s11684-023-0997-7. Epub 2023 Sep 19. Front Med. 2023. PMID: 37725231
Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. ...
Primary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. ...
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.
Inaba A, Furuhata M, Morimoto K, Rahman M, Takahashi O, Hijikata M, Knowles MR, Keicho N. Inaba A, et al. BMC Pulm Med. 2019 Jul 25;19(1):135. doi: 10.1186/s12890-019-0897-4. BMC Pulm Med. 2019. PMID: 31345208 Free PMC article.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic algorithms have recently been recommended, clinical signs and electron microscope (EM) findings have historically been the mainstays of diag …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder. Although the genetic tests and new diagnostic …
Transmission electron microscopy study of suspected primary ciliary dyskinesia patients.
Rezaei M, Soheili A, Ziai SA, Fakharian A, Toreyhi H, Pourabdollah M, Ghorbani J, Karimi-Galougahi M, Mahdaviani SA, Hasanzad M, Eslaminejad A, Ghaffaripour HA, Mahmoudian S, Rodafshani Z, Mirenayat MS, Varahram M, Marjani M, Tabarsi P, Mansouri D, Jamaati HR, Velayati AA. Rezaei M, et al. Sci Rep. 2022 Feb 11;12(1):2375. doi: 10.1038/s41598-022-06370-w. Sci Rep. 2022. PMID: 35149751 Free PMC article.
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infections in early life. ...The most common presentations were bronchiectasis: 26 (38.8%), chronic sinusitis: 23 (34.3%), and recurrent lower r …
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive condition often presenting with chronic respiratory infe …
Underlying causes and outcomes of recurrent pneumonia in hospitalized children.
Mei M, Dai D, Guo Z, Zhang C, Liu J, Qi Y, Wang X, Wang L, Qian L. Mei M, et al. Pediatr Pulmonol. 2023 Jun;58(6):1674-1682. doi: 10.1002/ppul.26374. Epub 2023 Mar 21. Pediatr Pulmonol. 2023. PMID: 36919525 Review.
RESULTS: Of 551 children with RP, 483 (87.7%) manifested underlying causes, with recurrent aspiration (127, 23.0%), primary immunodeficiency (PID) (91, 16.5%), and congenital heart diseases (63, 11.4%) being the most common. ...PID odds ratio (OR, 7.9; 95% confidence inter …
RESULTS: Of 551 children with RP, 483 (87.7%) manifested underlying causes, with recurrent aspiration (127, 23.0%), primary immunodef …
93 results