المؤلفون: Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

المصدر: Molecular Genetics & Genomic Medicine, Vol 13, Iss 1, Pp n/a-n/a (2025)

مصطلحات موضوعية: DNAAF3, minigene assay, molecular diagnosis, primary ciliary dyskinesia (PCD), variants of uncertain significance (VUS), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/4b174286df0e492eb608b2a7a9ed2f1c

المؤلفون: Salvado, Beatriz Alexandra Adrião

المساهمون: RUN

مصطلحات موضوعية: Motile Cilia, Primary ciliary dyskinesia (PCD), CCDC40, LNPs formulated with cmRNA, Zebrafish, Ciências Médicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10362/161485

المؤلفون: Maria Cristina Artesani, Sara Santarsiero, Emanuela Sitzia, Francesca Romana Lepri, Monia Magliozzi, Fabio Majo, Nicola Ullmann, Alessandra Stracuzzi, Antonio Novelli, Giovanni Cristalli, Alessandro Fiocchi

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: chronic rhinosinusitis with nasal polyposis (CRSwNP), primary ciliary dyskinesia (PCD), GAS8, otitis, bronchiectasis, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1345265/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/e30bed961bae4e949f1424a8bdd4eff0

المؤلفون: T. A. Kyian, S. A. Smirnikhina, A. G. Demchenko, R. V. Veiko, E. I. Kondratyeva, Т. А. Киян, C. А. Смирнихина, А. Г. Демченко, Р. В. Вейко, Е. И. Кондратьева

المساهمون: This study was part of the research project “Development of technology for diagnosing primary ciliary dyskinesia based on a comprehensive assessment of the function of respiratory tract ciliated epithelium” (registration number 123052200004-3), Исследование выполнено в рамках научно-исследовательской работы «Разработка технологии диагностики первичной цилиарной дискинезии на основе комплексной оценки функции реснитчатого эпителия респираторного тракта (регистрационный номер 123052200004-3)

المصدر: PULMONOLOGIYA; Том 34, № 2 (2024); 184-193 ; Пульмонология; Том 34, № 2 (2024); 184-193 ; 2541-9617 ; 0869-0189

مصطلحات موضوعية: культивирование клеток, primary ciliary dyskinesia (PCD), ciliated epithelium, cilia beating, light microscopy, cell culturing, первичная цилиарная дискинезия, реснитчатый эпителий, биение ресничек, световая микроскопия

وصف الملف: application/pdf

Relation: https://journal.pulmonology.ru/pulm/article/view/4432/3639; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2648; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2649; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2650; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2651; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2652; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2653; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2654; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2655; https://journal.pulmonology.ru/pulm/article/downloadSuppFile/4432/2656; Lucas J.S., Burgess A., Mitchison H.M. et al. Diagnosis and management of primary ciliary dyskinesia. Arch. Dis. Child. 2014; 99 (9): 850–856. DOI:10.1136/archdischild-2013-304831.; Кондратьева Е.И., Авдеев С.Н., Киян Т.А., Мизерницкий Ю.Л. Классификация первичной цилиарной дискинезии. Пульмонология. 2023; 33 (6): 731–738. DOI:10.18093/0869-0189-2023-33-6-731-738.; Müller L., Savas S.T., Tschanz S.A. et al. A Comprehensive approach for the diagnosis of primary ciliary dyskinesia – experiences from the first 100 patients of the PCD-UNIBE Diagnostic center. Diagnostics (Basel). 2021; 11 (9): 1540. DOI:10.3390/diagnostics11091540.; Ardura-Garcia C., Goutaki M., Carr S.B. et al. Registries and collaborative studies for primary ciliary dyskinesia in Europe. ERJ Open Res. 2020; 6 (2): 00005-2020. DOI:10.1183/23120541.00005-2020.; Afzelius B.A. A human syndrome caused by immotile cilia. Science. 1976; 193 (4250): 317–319. DOI:10.1126/science.1084576.; Lucas J.S., Barbato A., Collins S.A. et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur. Respir. J. 2017; 49 (1): 1601090. DOI:10.1183/13993003.01090-2016.; Shapiro A.J., Davis S.D., Polineni D. et al. Diagnosis of primary ciliary dyskinesia: an official American Thoracic Society clinical practice guideline. Am. J. Respir. Crit. Care Med. 2018; 197 (12): e24–39. DOI:10.1164/rccm.201805-0819st.; Sampaio P., da Silva M.F., Vale I. et al. CiliarMove: new software for evaluating ciliary beat frequency helps find novel mutations by a Portuguese multidisciplinary team on primary ciliary dyskinesia. ERJ Open Res. 2021; 7 (1): 00792-2020. DOI:10.1183/23120541.00792-2020.; Schneiter M., Tschanz S.A., Escher A. et al. The Cilialyzer – a freely available open-source software for the analysis of mucociliary activity in respiratory cells. Comput. Methods Programs Biomed. 2023; 241: 107744. DOI:10.1016/j.cmpb.2023.107744; Coles J.L., Thompson J., Horton K.L. et al. A revised protocol for culture of airway epithelial cells as a diagnostic tool for primary ciliary dyskinesia. J. Clin. Med. 2020; 9 (11): 3753. DOI:10.3390/jcm9113753.; Демченко А.Г., Смирнихина С.А. Культуры реснитчатых клеток для диагностики первичной цилиарной дискинезии. Пульмонология. 2023; 33 (2): 210–215. DOI:10.18093/0869-0189-2023-33-2-210-215.; Grubb B.R., Livraghi-Butrico A., Rogers T.D. et al. Reduced mucociliary clearance in old mice is associated with a decrease in Muc5b mucin. Am. J. Physiol. Lung Cell. Mol. Physiol. 2016; 310 (9): L860– 867. DOI:10.1152/ajplung.00015.2016.; Goodman A., Carpenter A.E. High-throughput, automated image processing for large-scale fluorescence microscopy experiments. Microsc. Microanal. 2016; 22 (Suppl. 3): 538–539. DOI:10.1017/s1431927616003548.; Papon J.F., Bassinet L., Cariou-Patron G. et al. Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet J. Rare Dis. 2012; 7: 78. DOI:10.1186/1750-1172-7-78.; Stannard W.A., Chilvers M.A., Rutman A.R. et al. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am. J. Respir. Crit. Care Med. 2010; 181 (4): 307–314. DOI:10.1164/rccm.200903-0459OC.; Jorissen M., Willems T., Van der Schueren B. et al. Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture. Acta Otorhinolaryngol. Belg. 2000, 54 (3): 343–356. Available at: https://typeset.io/papers/ultrastructural-expression-of-primary-ciliary-dyskinesia-60d743w8nv; https://journal.pulmonology.ru/pulm/article/view/4432

الاتاحة: https://journal.pulmonology.ru/pulm/article/view/4432
https://doi.org/10.18093/0869-0189-2024-34-2-184-193

المؤلفون: Miroslava Lucanska, Peter Kunc, Renata Pecova

المصدر: Acta Medica Martiniana, Vol 23, Iss 1, Pp 8-14 (2023)

مصطلحات موضوعية: nasal no (nno), primary ciliary dyskinesia (pcd), allergic rhinitis (ar), chronic rhinosinusitis, chronic cough, obstructive sleep apnea, adenoid hypertrophy, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1338-4139

URL الوصول: https://doaj.org/article/31c5eb68ef154d978c3ca3bf5817d355

المؤلفون: Pinto, Andreia Lucia do Nascimento

المساهمون: Lopes, Susana, Burgoyne, Thomas, Mota, Jaime, RUN

مصطلحات موضوعية: Primary Ciliary Dyskinesia (PCD), zebrafish, motile cilia, electron Microscopy (EM), diagnosis, Domínio/Área Científica::Ciências Naturais::Ciências Biológicas

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10362/134700

المؤلفون: Alicja Rabiasz, Ewa Ziętkiewicz

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 5, p 4472 (2023)

مصطلحات موضوعية: candidate genes, flatworms, motile cilia, planarians, primary ciliary dyskinesia (PCD), RNA interference (RNAi), Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/5/4472; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/28f2f1ce6706433fbd49d71258a17d7d

الاتاحة: https://doi.org/10.3390/ijms24054472
https://doaj.org/article/28f2f1ce6706433fbd49d71258a17d7d

المؤلفون: Gomes, Rita, Queirós, Joana, Borges, Joana, Cardoso, Ana Lúcia, Barbosa, Telma

مصطلحات موضوعية: high-flow nasal oxygen, noninvasive mechanical ventilation, palliative care, primary ciliary dyskinesia (pcd), respiratory insufficiency

Relation: https://www.cureus.com/articles/133082-domiciliary-high-flow-nasal-therapy-in-primary-ciliary-dyskinesia#!/; Gomes R, Queirós J, Borges J, Cardoso AL, Barbosa T. Domiciliary High-Flow Nasal Therapy in Primary Ciliary Dyskinesia. Cureus. 2023;15(1):e34177. doi:10.7759/cureus.34177; http://hdl.handle.net/10400.16/2954

الاتاحة: http://hdl.handle.net/10400.16/2954
https://doi.org/10.7759/cureus.34177

المؤلفون: Reula, Ana, Pitarch-Fabregat, Javier, MILARA, JAVIER, Cortijo, Julio, Mata Roig, Manuel, Milian Medina, Lara, Armengot, Miguel

مصطلحات موضوعية: primary ciliary dyskinesia (PCD), ciliary beat frequency (CBF), ciliary beat pattern (CBP), high-speed video microscopy (HSVM)

وصف الملف: application/pdf

Relation: Diagnostics 2021, 11; Reula A, Pitarch-Fabregat J, Milara J, Cortijo J, Mata-Roig M, Milian L, Armengot M. High-Speed Video Microscopy for Primary Ciliary Dyskinesia Diagnosis: A Study of Ciliary Motility Variations with Time and Temperature. Diagnostics (Basel). 2021 Jul 20;11(7):1301. doi:10.3390/diagnostics11071301. PMID: 34359383; PMCID: PMC8305583.; http://hdl.handle.net/10234/201019

الاتاحة: http://hdl.handle.net/10234/201019
https://doi.org/10.3390/diagnostics11071301

المؤلفون: Anđelković, Marina

المساهمون: Pavlović, Sonja, Begović, Jelena, Novaković, Ivana, Savić Pavićević, Dušanka, Đorđević, Ana

المصدر: Trendovi u molekularnoj Biologiji

مصطلحات موضوعية: Primarna cilijarna diskinezija (PCD), dijagnostički testovi, genomsko profilisanje PCD pacijenata, funkcionalna karakterizacija varijanti, model sistemi za PCD, terapija za PCD, Primary ciliary dyskinesia (PCD), diagnostic tests, genomic profiling of PCD patients, functional characterization of variants, model systems for PCD, therapy for PCD

Relation: info:eu-repo/grantAgreement/MESTD/inst-2020/200042/RS//; https://imagine.imgge.bg.ac.rs/handle/123456789/1721; https://imagine.imgge.bg.ac.rs/bitstream/id/42525/Molecular_basis_of_primary_ciliary_dyskinesia_2021.pdf; https://hdl.handle.net/21.15107/rcub_imagine_1721

الاتاحة: https://imagine.imgge.bg.ac.rs/handle/123456789/1721
https://imagine.imgge.bg.ac.rs/bitstream/id/42525/Molecular_basis_of_primary_ciliary_dyskinesia_2021.pdf
https://hdl.handle.net/21.15107/rcub_imagine_1721

المؤلفون: Noemie Bricmont, Mihaela Alexandru, Bruno Louis, Jean-François Papon, Céline Kempeneers

المصدر: Diagnostics; Volume 11; Issue 9; Pages: 1700

مصطلحات موضوعية: primary ciliary dyskinesia (PCD), digital high-speed videomicroscopy (DHSV), ciliary beat frequency (CBF), ciliary beat pattern (CBP), diagnostic, standardization

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11091700

الاتاحة: https://doi.org/10.3390/diagnostics11091700

المؤلفون: Vendula Martinů, Lucie Bořek-Dohalská, Žofia Varényiová, Jiří Uhlík, Václav Čapek, Petr Pohunek, Václav Koucký

المصدر: Diagnostics; Volume 11; Issue 6; Pages: 1088

مصطلحات موضوعية: primary ciliary dyskinesia (PCD), clinical index (CI), predictive tools, primary ciliary dyskinesia rule (PICADAR), North America criteria defined clinical features (NA-CDCF), nasal nitric oxide (nNO)

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11061088

الاتاحة: https://doi.org/10.3390/diagnostics11061088

المؤلفون: Maria Cristina Artesani, Sara Santarsiero, Emanuela Sitzia, Francesca Romana Lepri, Monia Magliozzi, Fabio Majo, Nicola Ullmann, Alessandra Stracuzzi, Antonio Novelli, Giovanni Cristalli, Alessandro Fiocchi

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, chronic rhinosinusitis with nasal polyposis (CRSwNP), primary ciliary dyskinesia (PCD), GAS8, otitis, bronchiectasis

Relation: https://figshare.com/articles/figure/Image1_A_novel_mutation_in_GAS8_gene_associated_with_chronic_rhinosinusitis_with_nasal_polyposis_in_a_case_of_primary_ciliary_dyskinesia_a_case_report_png/25929820

الاتاحة: https://doi.org/10.3389/fped.2024.1345265.s001
https://figshare.com/articles/figure/Image1_A_novel_mutation_in_GAS8_gene_associated_with_chronic_rhinosinusitis_with_nasal_polyposis_in_a_case_of_primary_ciliary_dyskinesia_a_case_report_png/25929820

المؤلفون: Maria Cristina Artesani, Sara Santarsiero, Emanuela Sitzia, Francesca Romana Lepri, Monia Magliozzi, Fabio Majo, Nicola Ullmann, Alessandra Stracuzzi, Antonio Novelli, Giovanni Cristalli, Alessandro Fiocchi

مصطلحات موضوعية: Foetal Development and Medicine, Obstetrics and Gynaecology, Paediatrics, Paediatrics and Reproductive Medicine not elsewhere classified, chronic rhinosinusitis with nasal polyposis (CRSwNP), primary ciliary dyskinesia (PCD), GAS8, otitis, bronchiectasis

Relation: https://figshare.com/articles/dataset/Table1_A_novel_mutation_in_GAS8_gene_associated_with_chronic_rhinosinusitis_with_nasal_polyposis_in_a_case_of_primary_ciliary_dyskinesia_a_case_report_pdf/25929823

الاتاحة: https://doi.org/10.3389/fped.2024.1345265.s002
https://figshare.com/articles/dataset/Table1_A_novel_mutation_in_GAS8_gene_associated_with_chronic_rhinosinusitis_with_nasal_polyposis_in_a_case_of_primary_ciliary_dyskinesia_a_case_report_pdf/25929823

المؤلفون: Tiago, Filipe Tadeu Alves

المساهمون: Lopes, Susana, RUN

مصطلحات موضوعية: CRISPR-Cas9, Cilia, SgRNAs, Danio rerio (Zebrafish), Primary Ciliary Dyskinesia (PCD), Cilia Beat Frequency (CBF), Domínio/Área Científica::Engenharia e Tecnologia::Outras Engenharias e Tecnologias

وصف الملف: application/pdf

الاتاحة: http://hdl.handle.net/10362/59496

المؤلفون: Behan, Laura, Leigh, Margaret W., Dell, Sharon D., Dunn Galvin, Audrey, Quittner, Alexandra L., Lucas, Jane S.

مصطلحات موضوعية: QOL-PCD, Primary ciliary dyskinesia (PCD), Psychometric validation, Genetic disorder, Treatment strategies

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7::SP1::HEALTH/305404/EU/Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia/BESTCILIA; http://thorax.bmj.com/content/thoraxjnl/72/9/832.full.pdf; Behan, L., Leigh, M. W., Dell, S. D., Dunn Galvin, A., Quittner, A. L. and Lucas, J. S. (2017) 'Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD)', Thorax, 72(9), pp. 832-839. doi:10.1136/thoraxjnl-2016-209356; 839; Thorax; 832; http://hdl.handle.net/10468/5351; 72

الاتاحة: http://hdl.handle.net/10468/5351
https://doi.org/10.1136/thoraxjnl-2016-209356

المؤلفون: Behan, Laura, Dimitrov, Borislav D., Kuehni, Claudia E., Hogg, Claire, Carroll, Mary, Evans, Hazel J., Goutaki, Myrofora, Harris, Amanda, Packham, Samantha, Walker, Woolf T., Lucas, Jane S.

مصطلحات موضوعية: PICADAR, Primary ciliary dyskinesia (PCD), Diagnostic predictive tool

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/EC/FP7::SP1::HEALTH/305404/EU/Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia/BESTCILIA; Behan, L., Dimitrov, B. D., Kuehni, C. E., Hogg, C., Carroll, M., Evans, H. J., Goutaki, M., Harris, A., Packham, S., Walker, W. T. and Lucas, J. S. (2016) 'PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia', European Respiratory Journal, 47(4), pp. 1103-1112. doi:10.1183/13993003.01551-2015; 1112; European Respiratory Journal; 1103; http://hdl.handle.net/10468/9261; 47

الاتاحة: http://hdl.handle.net/10468/9261
https://doi.org/10.1183/13993003.01551-2015

المؤلفون: Roxo-Rosa, Mónica, Lopes, Susana S.

مصطلحات موضوعية: Kupffer’s vesicle (KV), left-right (LR), left-right organizer (LRO), primary ciliary dyskinesia (PCD), autosomal dominant polycystic kidney disease (ADPKD), bic Book Industry Communication::P Mathematics & science::PS Biology, life sciences::PSB Biochemistry

وصف الملف: application/pdf

URL الوصول: https://library.oapen.org/handle/20.500.12657/49360

المؤلفون: Javier Milara, Javier Pitarch-Fabregat, Miguel Armengot, Lara Milian, Manuel Mata-Roig, Julio Cortijo, Ana Reula

المساهمون: Producción Científica UCH 2021, UCH. Departamento de Ciencias Biomédicas

المصدر: Diagnostics, Vol 11, Iss 1301, p 1301 (2021)
CEU Repositorio Institucional
Fundación Universitaria San Pablo CEU (FUSPCEU)
Diagnostics
Volume 11
Issue 7
DIAGNOSTICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), Kartagener's syndrome - Diagnosis, Respiratory organs - Diseases in children, Clinical Biochemistry, Aparato respiratorio - Enfermedades en los niños, Video microscopy, Article, high-speed video microscopy (HSVM), 03 medical and health sciences, 0302 clinical medicine, R5-920, ciliary beat frequency (CBF), Microscopia, Ophthalmology, Microscopy, medicine, Pediatric otolaryngology, 030212 general & internal medicine, Primary ciliary dyskinesia, Disquinesia ciliar, Síndrome de - Diagnóstico, primary ciliary dyskinesia (PCD), business.industry, Primary ciliary dyskinesia - Diagnosis, Enfermedades crónicas en los niños, Otorrinolaringología pediátrica, Gold standard (test), Ciliary motility, medicine.disease, Nasal epithelium, Chronic diseases in children, ciliary beat pattern (CBP), High speed video, 030228 respiratory system, Kartagener, Síndrome de - Diagnóstico, Sample collection, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efff88e35fbb9b48bb4a348c951f9db0

المؤلفون: Reula A, Pitarch-Fabregat J, Milara J, Cortijo J, Mata-Roig M, Milian L, Armengot M

المصدر: Diagnostics
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
r-FIHGUV. Repositorio Institucional de Producción Científica de la Fundación de Investigación del Hospital General de Valencia

مصطلحات موضوعية: high-speed video microscopy (HSVM), primary ciliary dyskinesia (PCD), ciliary beat frequency (CBF), ciliary beat pattern (CBP)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e8cb825ed9e500f7c1e30c31625bf0e7
https://www.fundanet.incliva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=16265