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Quoted phrase not found in phrase index: "Primary ciliary dyskinesia 17"
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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 …
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics; Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA. Wheway G, et al. Nat Cell Biol. 2015 Aug;17(8):1074-1087. doi: 10.1038/ncb3201. Epub 2015 Jul 13. Nat Cell Biol. 2015. PMID: 26167768 Free PMC article.
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. ...The PRPFs localize to the connecting cilium, and PRPF8- and PRPF31-mutated cells have ciliary defects. Combining the screen with exome sequencing data ide …
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. ...The PRPFs localize to …
Sinus Development and Pneumatization in a Primary Ciliary Dyskinesia Cohort.
Pappa AK, Sullivan KM, Lopez EM, Adams KN, Zanation AM, Ebert CS Jr, Thorp BD, Senior BA, Leigh MW, Knowles MR, Kimple AJ. Pappa AK, et al. Am J Rhinol Allergy. 2021 Jan;35(1):72-76. doi: 10.1177/1945892420933175. Epub 2020 Jun 19. Am J Rhinol Allergy. 2021. PMID: 32551925 Free PMC article.
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetically diverse disease which causes impaired mucociliary clearance, and results in pulmonary, otologic, and rhinologic disease in affected patients. ...The average Lund-Mackay score was 10.6 in the …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a genetically diverse disease which causes impaired mucociliary clearan …
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. ...In total, 17 patients were included in t …
Primary ciliary dyskinesia (PCD) is a rare hereditary condition characterized by decreased mucociliary clearance of the …
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. ...An observational study was carried out with individuals during t …
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations …
Analysis of the clinical features of Japanese patients with primary ciliary dyskinesia.
Chiyonobu K, Xu Y, Feng G, Saso S, Ogawa S, Ikejiri M, Abo M, Kondo M, Gotoh S, Kubo H, Hosoki K, Nagao M, Fujisawa T, Nakatani K, Takeuchi K. Chiyonobu K, et al. Auris Nasus Larynx. 2022 Apr;49(2):248-257. doi: 10.1016/j.anl.2021.08.003. Epub 2021 Aug 26. Auris Nasus Larynx. 2022. PMID: 34454779 Free article.
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare hereditary disease. Most reports of PCD in Japan are case reports, and clinical analysis has not been performed. ...Data on the following items were collected and analyzed: age at first visit to the hospit …
OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare hereditary disease. Most reports of PCD in Japan are case reports …
Developmental and behavioral problems in preschool-aged primary ciliary dyskinesia patients.
Zengin Akkus P, Gharibzadeh Hizal M, Ilter Bahadur E, Ozmert EN, Eryilmaz Polat S, Ozdemir G, Karahan S, Yalcin E, Dogru Ersoz D, Kiper N, Ozcelik U. Zengin Akkus P, et al. Eur J Pediatr. 2019 Jul;178(7):995-1003. doi: 10.1007/s00431-019-03382-z. Epub 2019 Apr 27. Eur J Pediatr. 2019. PMID: 31030258
Primary ciliary dyskinesia (PCD) causes a broad spectrum of disease. ...What is Known: Intelligence scores of school-aged PCD patients are similar to healthy subjects despite their higher internalizing problem scores on Child Behavior Checklist …
Primary ciliary dyskinesia (PCD) causes a broad spectrum of disease. ...What is Known: Intelligence scores of sc …
CT imaging features of paranasal sinuses in children with primary ciliary dyskinesia.
Lyu H, Guo Z, Chen C, Duan B, Xu Z, Chen W. Lyu H, et al. Acta Otolaryngol. 2022 Sep-Dec;142(9-12):691-695. doi: 10.1080/00016489.2022.2118371. Epub 2022 Sep 10. Acta Otolaryngol. 2022. PMID: 36093609
BACKGROUND: Primary ciliary dyskinesia (PCD) causes impaired mucociliary clearance and results in chronic pulmonary and sinonasal symptoms. ...Paranasal sinuses CT scans were scored according to the Lund-Mackay staging system. The correlation between age and …
BACKGROUND: Primary ciliary dyskinesia (PCD) causes impaired mucociliary clearance and results in chronic pulmonary and …
Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia.
Kaspy KR, Dell SD, Davis SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla C, Olivier KN, Barber AT, Wee W, Lin FC, Li L, Rampakakis E, Zariwala MA, Knowles MR, Leigh MW, Shapiro AJ. Kaspy KR, et al. Chest. 2024 May;165(5):1070-1081. doi: 10.1016/j.chest.2023.12.005. Epub 2023 Dec 9. Chest. 2024. PMID: 38072392
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. ...Overall, 70 participants (17%) harbored the severe CCDC39 or CCDC40 genotype. Compared with participants without SA, those with SA s …
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. .. …
Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.
Dell SD, Leigh MW, Lucas JS, Ferkol TW, Knowles MR, Alpern A, Behan L, Morris AM, Hogg C, DunnGalvin A, Quittner AL. Dell SD, et al. Ann Am Thorac Soc. 2016 Oct;13(10):1726-1735. doi: 10.1513/AnnalsATS.201603-198OC. Ann Am Thorac Soc. 2016. PMID: 27464304 Free PMC article.
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatric patient-reported outcomes. ...Cognitive testing (n = 47; 20 males; age at diagnosis, 0-11 yr; FEV(1), 49-124% predicted) confirmed …
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare disease. There are no available data on disease-specific pediatri …
70 results