Primary ciliary dyskinesia in the genomics age.
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H. Omran | A. Shoemark | S. Davis | J. Lucas
[1] P. Robinson,et al. CF derived scoring systems do not fully describe the range of structural changes seen on CT scans in PCD , 2019, Pediatric pulmonology.
[2] S. Hammoudeh,et al. Primary ciliary dyskinesia among Arabs: Where do we go from here? , 2019, Paediatric respiratory reviews.
[3] H. Mussaffi,et al. Pulmonary exacerbations in patients with primary ciliary dyskinesia: an expert consensus definition for use in clinical trials , 2019, ERJ Open Research.
[4] Laura E. Herring,et al. Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance. , 2019, American journal of human genetics.
[5] M. Rosenfeld,et al. Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype , 2019, American journal of respiratory and critical care medicine.
[6] S. Rosthøj,et al. One-year evolution and variability in multiple-breath washout indices in children and young adults with primary ciliary dyskinesia , 2019, European clinical respiratory journal.
[7] P. Calder,et al. Characterising the nutritional status of children with primary ciliary dyskinesia. , 2019, Clinical nutrition.
[8] A. Nicholson,et al. Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus. , 2018, American journal of human genetics.
[9] O. Bieri,et al. Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry , 2018, Annals of the American Thoracic Society.
[10] Imaging Lung Function Abnormalities in Primary Ciliary Dyskinesia Using Hyperpolarized Gas Ventilation MRI , 2018, Annals of the American Thoracic Society.
[11] H. Brunner,et al. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects , 2018, American journal of human genetics.
[12] R. Pengelly,et al. Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia , 2018, Thorax.
[13] H. Omran,et al. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility , 2018, PLoS genetics.
[14] P. Robinson,et al. Bronchiectasis in PCD looks different to CF on CT scan , 2018, Multidisciplinary Respiratory Medicine.
[15] H. Omran,et al. Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study , 2018, European Respiratory Journal.
[16] M. Rosenfeld,et al. Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline , 2018, American journal of respiratory and critical care medicine.
[17] Laura A. Crinnion,et al. Biallelic Mutations in LRRC56 encoding a protein associated with intraflagellar transport, cause mucociliary clearance and laterality defects , 2018, bioRxiv.
[18] H. Omran,et al. DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy , 2018, The clinical respiratory journal.
[19] A. Bush,et al. Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11 , 2018, European Respiratory Journal.
[20] A. Duff,et al. Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable? , 2017, Paediatric respiratory reviews.
[21] N. Krogan,et al. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. , 2017, Developmental cell.
[22] P. Yiallouros,et al. Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort , 2017, European Respiratory Journal.
[23] M. Boon,et al. Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines , 2017, Scientific Reports.
[24] S. Amselem,et al. Infertility in an adult cohort with primary ciliary dyskinesia: phenotype–gene association , 2017, European Respiratory Journal.
[25] M. Schmidts,et al. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations , 2017, Thorax.
[26] H. Johansen,et al. Clinical care of children with primary ciliary dyskinesia , 2017, Expert review of respiratory medicine.
[27] H. Omran,et al. Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect , 2017, Human mutation.
[28] T. Welte,et al. Nasal Nitric Oxide Measurement and a Modified PICADAR Score for the Screening of Primary Ciliary Dyskinesia in Adults with Bronchiectasis , 2017, Pneumologie.
[29] A. Bush,et al. Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia , 2017, American journal of respiratory and critical care medicine.
[30] B. Gaston,et al. Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis , 2017, Chronic respiratory disease.
[31] A. Quittner,et al. Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD) , 2017, Thorax.
[32] Shane A. McCarthy,et al. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3 , 2017, Nature Communications.
[33] R. Lutter,et al. A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia , 2017, European Respiratory Journal.
[34] P. Goggin,et al. Diagnosis of primary ciliary dyskinesia: potential options for resource-limited countries , 2017, European Respiratory Review.
[35] H. Omran,et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia , 2017, European Respiratory Journal.
[36] G. Pals,et al. Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects , 2016, American journal of human genetics.
[37] S. Nolan,et al. Dornase alfa for cystic fibrosis. , 2017, Paediatric respiratory reviews.
[38] A. Quittner,et al. Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients. , 2016, Annals of the American Thoracic Society.
[39] C. von Buchwald,et al. A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia. , 2016, International journal of pediatric otorhinolaryngology.
[40] E. Ziętkiewicz,et al. Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia , 2016, RNA biology.
[41] C. Kuehni,et al. Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis , 2016, European Respiratory Journal.
[42] S. Amselem,et al. Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. , 2016, American journal of human genetics.
[43] R. Durbin,et al. TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. , 2016, American journal of human genetics.
[44] L. Behan,et al. Diagnosing primary ciliary dyskinesia: an international patient perspective , 2016, European Respiratory Journal.
[45] R. Durbin,et al. DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. , 2016, American journal of respiratory cell and molecular biology.
[46] S. Amselem,et al. Mutations in GAS8, a Gene Encoding a Nexin‐Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization , 2016, Human mutation.
[47] M. Rosenfeld,et al. Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. , 2016, Annals of the American Thoracic Society.
[48] H. Omran,et al. Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia , 2016, BMC Pulmonary Medicine.
[49] B. Housset,et al. Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia , 2016, Thorax.
[50] D. Hansell,et al. A longitudinal study characterising a large adult primary ciliary dyskinesia population , 2016, European Respiratory Journal.
[51] A. Avital,et al. Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis , 2016, Human mutation.
[52] B. Dimitrov,et al. PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia , 2016, European Respiratory Journal.
[53] A. Boner,et al. Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia , 2016, Journal of Medical Genetics.
[54] J. Yates,et al. Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left–right asymmetry , 2016, Molecular biology of the cell.
[55] M. Rosenfeld,et al. Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review , 2015, Pediatric pulmonology.
[56] P. Lackie,et al. Accuracy of diagnostic testing in primary ciliary dyskinesia , 2015, European Respiratory Journal.
[57] C. von Buchwald,et al. A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia. , 2015, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.
[58] Y. Yau,et al. Changes in airway inflammation during pulmonary exacerbations in patients with cystic fibrosis and primary ciliary dyskinesia , 2015, European Respiratory Journal.
[59] H. Omran,et al. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. , 2015, American journal of human genetics.
[60] R. Durbin,et al. Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. , 2015, American journal of respiratory cell and molecular biology.
[61] S. Amselem,et al. RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes. , 2015, American journal of human genetics.
[62] A. Quittner,et al. A quality-of-life measure for adults with primary ciliary dyskinesia: QOL–PCD , 2015, European Respiratory Journal.
[63] P. Latzin,et al. Further evidence for an association between LCI and FEV1 in patients with PCD , 2015, Thorax.
[64] P. Beales,et al. Bardet Biedl syndrome: motile ciliary phenotype. , 2015, Chest.
[65] G. Perruolo,et al. Hypovitaminosis D: a novel finding in primary ciliary dyskinesia , 2015, Italian Journal of Pediatrics.
[66] Mieke Boon,et al. Lung structure–function correlation in patients with primary ciliary dyskinesia , 2015, Thorax.
[67] M. Rosenfeld,et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. , 2015, American journal of respiratory and critical care medicine.
[68] Alison L. Reynolds,et al. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population , 2014, European Journal of Human Genetics.
[69] A. Bush,et al. Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia , 2014, Pediatric pulmonology.
[70] D. Manson,et al. Primary Ciliary Dyskinesia and Neonatal Respiratory Distress , 2014, Pediatrics.
[71] M. Rosenfeld,et al. Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. , 2014, Chest.
[72] Tom R. Gaunt,et al. Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia , 2014, Human mutation.
[73] H. Omran,et al. CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation , 2014, American journal of human genetics.
[74] H. Omran,et al. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia , 2014, European Respiratory Journal.
[75] A. Avital,et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia , 2014, Nature Communications.
[76] H. Omran,et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia , 2014, Nature Genetics.
[77] J. Fleming,et al. Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia , 2014, European Respiratory Journal.
[78] E. Kerem,et al. Differences in disease expression between primary ciliary dyskinesia and cystic fibrosis with and without pancreatic insufficiency. , 2014, Chest.
[79] M. Carroll,et al. Primary ciliary dyskinesia and cystic fibrosis: different diseases require different treatment. , 2014, Chest.
[80] J. Shendure,et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. , 2014, American journal of respiratory and critical care medicine.
[81] K. Gove,et al. Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias , 2014, BMC Pulmonary Medicine.
[82] L. Ostrowski,et al. Restoring ciliary function to differentiated Primary Ciliary Dyskinesia cells with a lentiviral vector , 2014, Gene Therapy.
[83] L. Dupont,et al. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure , 2014, Orphanet Journal of Rare Diseases.
[84] J. Lebl,et al. Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia , 2013, International journal of endocrinology.
[85] L. A. Daniels,et al. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. , 2013, American journal of respiratory and critical care medicine.
[86] Emily H Turner,et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. , 2013, American journal of human genetics.
[87] M. Rosenfeld,et al. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. , 2013, American journal of human genetics.
[88] K. Lock,et al. Complexity, Temporal Stability, and Clinical Correlates of Airway Bacterial Community Composition in Primary Ciliary Dyskinesia , 2013, Journal of Clinical Microbiology.
[89] B. Housset,et al. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. , 2013, American journal of human genetics.
[90] H. Omran,et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility , 2013, Nature Genetics.
[91] D. Hansell,et al. Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. , 2013, American journal of respiratory and critical care medicine.
[92] K. Nielsen,et al. Aerobic Fitness in Children and Young Adults with Primary Ciliary Dyskinesia , 2013, PloS one.
[93] J. Lupski,et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. , 2013, American journal of human genetics.
[94] M. Rosenfeld,et al. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. , 2013, American journal of human genetics.
[95] A. Bowcock,et al. Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. , 2013, The Journal of pediatrics.
[96] Richard D Emes,et al. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. , 2013, American journal of human genetics.
[97] A. Noor,et al. Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene , 2013, American journal of medical genetics. Part A.
[98] E. Haan,et al. RPGR mutations might cause reduced orientation of respiratory cilia , 2013, Pediatric pulmonology.
[99] S. Lindberg,et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans , 2013, Nature Genetics.
[100] Emily H Turner,et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. , 2013, American journal of human genetics.
[101] Richard D Emes,et al. Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. , 2013, American journal of human genetics.
[102] S. Amselem,et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. , 2012, American journal of human genetics.
[103] S. Dell,et al. Middle ear ventilation in children with primary ciliary dyskinesia. , 2012, International journal of pediatric otorhinolaryngology.
[104] Kate S. Wilson,et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. , 2012, American journal of human genetics.
[105] M. Hurles,et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. , 2012, American journal of human genetics.
[106] A. Clément,et al. Longitudinal lung function and structural changes in children with primary ciliary dyskinesia , 2012, Cilia.
[107] F. Giallauria,et al. Cardiopulmonary assessment in primary ciliary dyskinesia , 2012, European journal of clinical investigation.
[108] A. Schier,et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms , 2012, Nature Genetics.
[109] P. Lackie,et al. Nitric oxide in primary ciliary dyskinesia , 2012, European Respiratory Journal.
[110] M. Strippoli,et al. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice , 2012, European Respiratory Journal.
[111] H. Mussaffi,et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia , 2012, Nature Genetics.
[112] M. Rosenfeld,et al. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure , 2011, Thorax.
[113] P. Gustafsson,et al. Ventilation inhomogeneity in children with primary ciliary dyskinesia , 2011, Thorax.
[114] V. Sheffield,et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. , 2011, American journal of human genetics.
[115] K. Anderson,et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation , 2011, Nature Genetics.
[116] J. Belmont,et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs , 2011, Nature Genetics.
[117] K. Hörmann,et al. ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities , 2011, European Archives of Oto-Rhino-Laryngology.
[118] M. Strippoli,et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children , 2010, European Respiratory Journal.
[119] P. Chauvin,et al. Otologic features in children with primary ciliary dyskinesia. , 2010, Archives of otolaryngology--head & neck surgery.
[120] S. Hanein,et al. Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations , 2010, Journal of Medical Genetics.
[121] K. Nielsen,et al. Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia , 2010, European Respiratory Journal.
[122] L. Skovgaard,et al. Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. , 2010, American journal of respiratory and critical care medicine.
[123] H. Zentgraf,et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. , 2009, American journal of human genetics.
[124] S. Amselem,et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. , 2009, American journal of human genetics.
[125] H Omran,et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children , 2009, European Respiratory Journal.
[126] C. O’Callaghan,et al. High prevalence of primary ciliary dyskinesia in a British Asian population , 2009, Archives of Disease in Childhood.
[127] M. Salvatore,et al. Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings , 2009, Italian journal of pediatrics.
[128] F. Cosset,et al. Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy , 2009, PLoS genetics.
[129] Colin A. Johnson,et al. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. , 2009, American journal of human genetics.
[130] A. Miyawaki,et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins , 2008, Nature.
[131] H. Mussaffi,et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. , 2008, American journal of human genetics.
[132] H. Tiddens,et al. Structural and functional lung disease in primary ciliary dyskinesia. , 2008, Chest.
[133] M. Leigh,et al. Early lung disease in young children with primary ciliary dyskinesia , 2008, Pediatric pulmonology.
[134] S. Nasr,et al. Long-term use of nebulized human recombinant DNase1 in two siblings with primary ciliary dyskinesia. , 2007, Respiratory medicine.
[135] J. Mortensen,et al. Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia. , 2007, Chest.
[136] H. Omran,et al. Congenital Heart Disease and Other Heterotaxic Defects in a Large Cohort of Patients With Primary Ciliary Dyskinesia , 2007, Circulation.
[137] S. Amselem,et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia , 2007, Proceedings of the National Academy of Sciences.
[138] Wei Chen,et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome , 2006, Human Genetics.
[139] A. Moore,et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa , 2005, Journal of Medical Genetics.
[140] B. Rubin,et al. Mucus properties in children with primary ciliary dyskinesia: comparison with cystic fibrosis. , 2006, Chest.
[141] H. Omran,et al. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. , 2005, American journal of respiratory and critical care medicine.
[142] ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005. , 2005, American journal of respiratory and critical care medicine.
[143] P. Molina,et al. High-resolution computed tomography in young patients with cystic fibrosis: distribution of abnormalities and correlation with pulmonary function tests. , 2004, The Journal of pediatrics.
[144] M. Hazucha,et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. , 2004, American journal of respiratory and critical care medicine.
[145] M. Chilvers,et al. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia☆ , 2003, Journal of Allergy and Clinical Immunology.
[146] P. Barnes,et al. Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia , 2003, European Respiratory Journal.
[147] Miguel Armengot,et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[148] H. Lehrach,et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry , 2002, Nature Genetics.
[149] S. Amselem,et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. , 1999, American journal of human genetics.
[150] J. D. de Jongste,et al. DNase treatment in primary ciliary dyskinesia—Assessment by nocturnal pulse oximetry , 1999, Pediatric pulmonology.
[151] A. O'donnell,et al. Treatment of idiopathic bronchiectasis with aerosolized recombinant human DNase I. rhDNase Study Group. , 1998, Chest.
[152] M. Desai,et al. Clinical benefit from nebulized human recombinant DNase in Kartagener's syndrome , 1995, Pediatric pulmonology.
[153] D. McCauley,et al. Cystic fibrosis: scoring system with thin-section CT. , 1991, Radiology.
[154] B. Afzelius. A human syndrome caused by immotile cilia. , 1976, Science.