Research & Literature

Establishing normative nasal nitric oxide values in infants.

Adams PS, Tian X, Zahid M, et al.

Respiratory medicine 2015; (109(9)):1126-30.

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.

Shapiro AJ, Zariwala MA, Ferkol T, et al.

Pediatric pulmonology 2016; (51(2)):115-32 doi:10.1002/ppul.23304.

Genetics and biology of primary ciliary dyskinesia.

Horani A, Ferkol TW, Dutcher SK, Brody SL

Paediatric respiratory reviews 2016; (18()):18-24.

An international registry for primary ciliary dyskinesia.

Werner C, Lablans M, Ataian M, et al.

The European respiratory journal 2016; (47(3)):849-59 doi:10.1183/13993003.00776-2015.

A longitudinal study characterising a large adult primary ciliary dyskinesia population.

Shah A, Shoemark A, MacNeill SJ, et al.

The European respiratory journal 2016; (48(2)):441-50 doi:10.1183/13993003.00209-2016.

A case of Kartagener syndrome with rhinolalia clausa.

Raoufi M, Sator H, Lahma J, et al.

The Pan African medical journal 2016; (23()):159 doi:10.11604/pamj.2016.23.159.8664.

A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia.

Andersen TN, Alanin MC, von Buchwald C, Nielsen LH

International journal of pediatric otorhinolaryngology 2016; (89()):164-8.

Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable?

Schofield LM, Duff A, Brennan C

Paediatric respiratory reviews 2018; (25()):73-77 doi:10.1016/j.prrv.2017.03.011.

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect.

Edelbusch C, Cindrić S, Dougherty GW, et al.

Human mutation 2017; (38(8)):964-969 doi:10.1002/humu.23261.

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies.

Mirra V, Werner C, Santamaria F

Frontiers in pediatrics 2017; (5()):135 doi:10.3389/fped.2017.00135.

Clinical care for primary ciliary dyskinesia: current challenges and future directions.

Rubbo B, Lucas JS

European respiratory review : an official journal of the European Respiratory Society 2017; (26(145)) doi:10.1183/16000617.0023-2017.

Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.

Kuehni CE, Lucas JS

Breathe (Sheffield, England) 2017; (13(3)):166-178 doi:10.1183/20734735.008517.

Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.

Shapiro AJ, Leigh MW

Ultrastructural pathology 2017; (41(6)):373-385 doi:10.1080/01913123.2017.1362088.

Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics.

Dixon M, Shoemark A

Ultrastructural pathology 2017; (41(6)):390-398 doi:10.1080/01913123.2017.1365990.

Primary ciliary dyskinesia: mechanisms and management.

Damseh N, Quercia N, Rumman N, et al.

The application of clinical genetics 2017; (10()):67-74 doi:10.2147/TACG.S127129.

Sperm dysfunction and ciliopathy.

Inaba K, Mizuno K

Reproductive medicine and biology 2016; (15(2)):77-94 doi:10.1007/s12522-015-0225-5.

Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort.

Goutaki M, Halbeisen FS, Spycher BD, et al.

The European respiratory journal 2017; (50(6)) doi:10.1183/13993003.01659-2017.

No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia.

Ghedia R, Ahmed J, Navaratnam A, Harcourt J

International journal of pediatric otorhinolaryngology 2018; (105()):176-180 doi:10.1016/j.ijporl.2017.12.015.

Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia.

Ghandourah H, Dell SD

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-224964.

Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry.

Nyilas S, Bauman G, Pusterla O, et al.

Annals of the American Thoracic Society 2018; (15(12)):1434-1442 doi:10.1513/AnnalsATS.201712-967OC.

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School.

Farley H, Rubbo B, Bukowy-Bieryllo Z, et al.

BMC proceedings 2018; (12(Suppl 16)):64 doi:10.1186/s12919-018-0161-6.

[Kartagener syndrome: neonatal diagnosis. A case report].

Pérez Crespo MDR, Fariñas Salto M, Chacón Aguilar R, et al.

Archivos argentinos de pediatria 2019; (117(3)):e292-e296 doi:10.5546/aap.2019.e292.

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis.

Inaba A, Furuhata M, Morimoto K, et al.

BMC pulmonary medicine 2019; (19(1)):135 doi:10.1186/s12890-019-0897-4.

Individualized physical training in the therapy of Primary Ciliary Dyskinesia - A case report.

Schumann M, Freitag N, Haag E, Bloch W

Respiratory medicine case reports 2019; (28()):100925 doi:10.1016/j.rmcr.2019.100925.

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.

Nöthe-Menchen T, Wallmeier J, Pennekamp P, et al.

Circulation. Genomic and precision medicine 2019; doi:10.1161/CIRCGEN.119.002686.

Nasal Nitric Oxide Measurement in Primary Ciliary Dyskinesia. A Technical Paper on Standardized Testing Protocols.

Shapiro AJ, Dell SD, Gaston B, et al.

Annals of the American Thoracic Society 2020; (17(2)):e1-e12 doi:10.1513/AnnalsATS.201904-347OT.

A rare cause of acute abdominal pain in a patient with Primary ciliary dyskinesia with situs inversus totalis.

Çıkı K, Türer ÖB, Hızal M, et al.

The Turkish journal of pediatrics 2020; (62(1)):156-159.

Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial.

Kobbernagel HE, Buchvald FF, Haarman EG, et al.

The Lancet. Respiratory medicine 2020; (8(5)):493-505 doi:10.1016/S2213-2600(20)30058-8.

[Primary Ciliary Dyskinesia - Interdisciplinary Diagnostics and Therapy].

Hackenberg S, Scherzad A

Laryngo- rhino- otologie 2020; (99(5)):326-337 doi:10.1055/a-1074-4694.

Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report.

Al Mutairi F, Alkhalaf R, Alkhorayyef A, et al.

BMC pulmonary medicine 2020; (20(1)):141 doi:10.1186/s12890-020-1175-1.

Comparison of Multiple Breath Washout and Spirometry in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis and Healthy Controls.

Kinghorn B, McNamara S, Genatossio A, et al.

Annals of the American Thoracic Society 2020; (17(9)):1085-1093 doi:10.1513/AnnalsATS.201905-375OC.

Primary Ciliary Dyskinesia with Refractory Chronic Rhinosinusitis.

Suzaki I, Hirano K, Arai S, et al.

The American journal of case reports 2020; (21()):e923270 doi:10.12659/AJCR.923270.

Motile ciliopathies.

Wallmeier J, Nielsen KG, Kuehni CE, et al.

Nature reviews. Disease primers 2020; (6(1)):77 doi:10.1038/s41572-020-0209-6.

Respiratory Distress in the Newborn with Primary Ciliary Dyskinesia.

Machogu E, Gaston B

Children (Basel, Switzerland) 2021; (8(2)) doi:10.3390/children8020153.

Breath-holding and tidal breathing nasal NO to screen children for Primary Ciliary Dyskinesia.

Beydon N, Tamalet A, Escudier E, et al.

Pediatric pulmonology 2021; (56(7)):2242-2249 doi:10.1002/ppul.25432.

Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia.

Zhao X, Bian C, Liu K, et al.

Orphanet journal of rare diseases 2021; (16(1)):293 doi:10.1186/s13023-021-01840-2.

Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective.

O'Connor MG, Horani A, Shapiro AJ

Diagnostics (Basel, Switzerland) 2021; (11(7)) doi:10.3390/diagnostics11071278.

Ciliary Videomicroscopy: A Long Beat from the European Respiratory Society Guidelines to the Recognition as a Confirmatory Test for Primary Ciliary Dyskinesia.

Bricmont N, Alexandru M, Louis B, et al.

Diagnostics (Basel, Switzerland) 2021; (11(9)) doi:10.3390/diagnostics11091700.

Current and Future Treatments in Primary Ciliary Dyskinesia.

Paff T, Omran H, Nielsen KG, Haarman EG

International journal of molecular sciences 2021; (22(18)) doi:10.3390/ijms22189834.

Axonemal Symmetry Break, a New Ultrastructural Diagnostic Tool for Primary Ciliary Dyskinesia?

Blanco-Máñez R, Armengot-Carceller M, Jaijo T, Vera-Sempere F

Diagnostics (Basel, Switzerland) 2022; (12(1)) doi:10.3390/diagnostics12010129.

Lung function from school age to adulthood in primary ciliary dyskinesia.

Halbeisen FS, Pedersen ESL, Goutaki M, et al.

The European respiratory journal 2022; (60(4)) doi:10.1183/13993003.01918-2021.

Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.

Kos R, Israëls J, van Gogh CDL, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2022; (190(1)):89-101 doi:10.1002/ajmg.c.31968.

Coexistence of pan-hypogammaglobulinaemia and primary ciliary dyskinesia.

S Kumar S, Ray A, Kabra SK, Sinha S

BMJ case reports 2022; (15(5)) doi:10.1136/bcr-2022-248812.

Primary ciliary dyskinesia with CCDC39 variants displaying specific ciliary ultrastructure and movement concordant with the genotype: A case report.

Abo M, Takeuchi K, Ikejiri M, et al.

Respiratory investigation 2022; (60(5)):725-728 doi:10.1016/j.resinv.2022.05.005.

Identification of a Novel OFD1 Variant in a Patient with Primary Ciliary Dyskinesia.

Yang B, Lei C, Yang D, et al.

Pharmacogenomics and personalized medicine 2022; (15()):697-704 doi:10.2147/PGPM.S365740.

Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: a systematic review.

Peng B, Gao YH, Xie JQ, et al.

Orphanet journal of rare diseases 2022; (17(1)):283 doi:10.1186/s13023-022-02427-1.

Physical activity, respiratory physiotherapy practices, and nutrition among people with primary ciliary dyskinesia in Switzerland - a cross-sectional survey.

Lam YT, Pedersen ESL, Schreck LD, et al.

Swiss medical weekly 2022; (152()):w30221.

Lung Function in Children with Primary Ciliary Dyskinesia.

Ferraro VA, Castaldo RJ, Tonazzo V, et al.

Children (Basel, Switzerland) 2023; (10(2)) doi:10.3390/children10020290.

Lung Transplantation for Primary Ciliary Dyskinesia and Kartagener Syndrome: A Multicenter Study.

Marro M, Leiva-Juárez MM, D'Ovidio F, et al.

Transplant international : official journal of the European Society for Organ Transplantation 2023; (36()):10819 doi:10.3389/ti.2023.10819.

DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature.

Sodeifian F, Samieefar N, Shahkarami S, et al.

Case reports in medicine 2023; (2023()):8436715 doi:10.1155/2023/8436715.

Sinonasal quality of life in primary ciliary dyskinesia.

Stack T, Norris M, Kim S, et al.

International forum of allergy & rhinology 2023; (13(11)):2101-2104 doi:10.1002/alr.23180.

Outcomes of Endoscopic Sinus Surgery for Chronic Rhinosinusitis in Adults with Primary Ciliary Dyskinesia.

Plantier DB, Pinna FR, Olm MAK, et al.

International archives of otorhinolaryngology 2023; (27(3)):e423-e427 doi:10.1055/s-0042-1746193.

Otolaryngological burden of disease in children with primary ciliary dyskinesia in Victoria, Australia.

Baird SM, Wong D, Levi E, Robinson P

International journal of pediatric otorhinolaryngology 2023; (173()):111722 doi:10.1016/j.ijporl.2023.111722.

Expert group recommendation on inhaled mucoactive drugs in pediatric respiratory diseases: an Indian perspective.

Singh M, Varkki S, Kinimi I, et al.

Frontiers in pediatrics 2023; (11()):1322360 doi:10.3389/fped.2023.1322360.

The utility of nasal nitric oxide in the diagnostic evaluation of primary ciliary dyskinesia.

Carr KA, Moore PE, O'Connor MG

Pediatric pulmonology 2024; (59(5)):1410-1417 doi:10.1002/ppul.26929.

Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.

Rodriguez Mier N, Jaspers M, Van Hoof E, et al.

Lung 2024; (202(3)):291-298 doi:10.1007/s00408-024-00696-0.

Primary Ciliary Dyskinesia with Identical Genotype but Distinct Phenotypes in Two Siblings.

Sato M, Fujita Y, Imataka G, et al.

The Tohoku journal of experimental medicine 2024; (263(3)):211-215 doi:10.1620/tjem.2024.J035.

Recognizing clinical features of primary ciliary dyskinesia in the perinatal period.

Mapala L, Kumar M, Canakis AM, et al.

Journal of perinatology : official journal of the California Perinatal Association 2024; (44(11)):1700-1706 doi:10.1038/s41372-024-02068-1.

Respiratory Aspects of Primary Ciliary Dyskinesia.

De Jesús-Rojas W, Shapiro AJ, Shoemark A

Clinics in chest medicine 2024; (45(3)):717-728 doi:10.1016/j.ccm.2024.02.020.

The Impact of Age of Diagnosis in Children with Primary Ciliary Dyskinesia.

Gatt D, Shaw M, Kritzinger F, et al.

Annals of the American Thoracic Society 2025; (22(2)):208-215 doi:10.1513/AnnalsATS.202403-230OC.

Airway Clearance Techniques in Primary Ciliary Dyskinesia: A Systematic Review.

Qian L, Lam B, Zheng T, et al.

Puerto Rico health sciences journal 2024; (43(3)):119-124.

Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.

Wohlgemuth K, Hoersting N, Koenig J, et al.

The European respiratory journal 2024; (64(6)) doi:10.1183/13993003.00790-2024.

Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis.

Kinghorn B, Rosenfeld M, Sullivan E, et al.

Annals of the American Thoracic Society 2024; (21(12)):1723-1732 doi:10.1513/AnnalsATS.202311-1008OC.

Long-Term Lung Function and Pseudomonas aeruginosa Infection in Genotyped Primary Ciliary Dyskinesia.

Holgersen MG, Marthin JK, Raidt J, et al.

Annals of the American Thoracic Society 2025; (22(2)):216-225 doi:10.1513/AnnalsATS.202404-340OC.

Primary ciliary dyskinesia as a rare cause of male infertility: case report and literature overview.

Novák J, Horáková L, Puchmajerová A, et al.

Basic and clinical andrology 2024; (34(1)):27 doi:10.1186/s12610-024-00244-z.

Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.

Brody SL, Pan J, Huang T, et al.

Science translational medicine 2025; (17(783)):eadp5173 doi:10.1126/scitranslmed.adp5173.

Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis.

Kahraman FU, Jafarov U, Yazan H, et al.

Birth defects research 2025; (117(2)):e2444 doi:10.1002/bdr2.2444.

LRRC56 deletion causes primary ciliary dyskinesia in mice characterized by dynein arms defects.

Wu R, Li H, Wu P, et al.

Biology open 2025; (14(2)) doi:10.1242/bio.061846.

Management of middle ear disease in pediatric primary ciliary dyskinesia.

Muhonen EG, Zhu A, Sempson S, et al.

International journal of pediatric otorhinolaryngology 2025; (192()):112297 doi:10.1016/j.ijporl.2025.112297.

Genotype-Phenotype Correlation in a Group of Italian Patients With Primary Ciliary Dyskinesia.

Petrarca L, Guida V, Nenna R, et al.

Pediatric pulmonology 2025; (60(4)):e71057 doi:10.1002/ppul.71057.

An incomplete Kartagener syndrome presenting with recurrent exacerbation of bronchiectasis: a case report.

Gupta P, Adhikari P, Ghimire P, et al.

Annals of medicine and surgery (2012) 2025; (87(3)):1687-1691 doi:10.1097/MS9.0000000000002987.

Primary ciliary dyskinesia: a case report of double DNAH11 mutant alleles.

Pîrlog LM, Pătrăşcanu AA, Kutasi E, et al.

Medicine and pharmacy reports 2025; (98(2)):252-256 doi:10.15386/mpr-2743.

Kartagener Syndrome: A First Report of Two Cases from Benin, West Africa.

Ade S, Akanni D, Efio M, et al.

West African journal of medicine 2024; (41(12)):1219-1224.

Ciliary Motility and Ultrastructure in Bronchial Epithelium of Lung Transplant Recipients with Primary Ciliary Dyskinesia.

Armengot M, Bancalari C, Carretero-Vilarroig L, et al.

Journal of clinical medicine 2025; (14(10)) doi:10.3390/jcm14103439.

Repeatability of Multiple Breath Washout in Pediatric Primary Ciliary Dyskinesia.

Wee WB, Bashi LM, Jensen R, et al.

Pediatric pulmonology 2025; (60(7)):e71107 doi:10.1002/ppul.71107.

Adequacy of Clinical and Radiological Evidence for the Management of Kartagener Syndrome.

Hazarika H, Talukdar G, Talukdar AJ

Cureus 2025; (17(8)):e91091 doi:10.7759/cureus.91091.

Late diagnosis of Kartagener syndrome in a 38-year-old female presenting with palpitations in a resource-limited emergency department.

Atlı Ö

Oxford medical case reports 2025; (2025(11)):omaf233 doi:10.1093/omcr/omaf233.

Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.

Kondratyeva EI, Avdeev SN, Kyian TA, et al.

International journal of molecular sciences 2025; (26(23)) doi:10.3390/ijms262311674.

Recurrent pulmonary tuberculosis in a child with primary ciliary dyskinesia: a rare association.

Gandhi D, Agrawal R, Nalwalla Z, et al.

Paediatrics and international child health 2026; 1-4 doi:10.1080/20469047.2025.2606436.

Tidal Breathing Nasal Nitric Oxide Measurement as a Test for Primary Ciliary Dyskinesia in Young Children.

Leigh MW, Shapiro AJ, Chawla KK, et al.

The European respiratory journal 2026; doi:10.1183/13993003.01540-2025.