Primary ciliary dyskinesia in the genomics age.

[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.