Primary ciliary dyskinesia: current state of the art

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Archives of Disease in Childhood

• Publication date

  2007-07-18

• Fields of study

  Medicine

• Identifiers
  DOI 10.1136/adc.2006.096958PMID 17634184PMCID PMC2066071
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• NATIONAL CONSENSUS STANDARDS FOR THE NURSING MANAGEMENT OF CYSTIC FIBROSIS BY UK CF NURSE SPECIALIST GROUP (MAY 2001): REMARKS AND COMPARISON WITH THE ITALIAN EXPERIENCE

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• Physiotherapy for Respiratory and Cardiac Problems: Adults and Paediatrics

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• Chest medicine

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• Novel tools to unravel molecular mechanisms in cilia-related disorders.

  2006cited by this paper
• Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

  2006influential reference
• DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

  2006influential reference
• Localization of candidate regions for a novel gene for Kartagener syndrome

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• A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

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• Mucus properties in children with primary ciliary dyskinesia: comparison with cystic fibrosis.

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• Inhaled L-arginine improves exhaled nitric oxide and pulmonary function in patients with cystic fibrosis.

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• The ciliopathies: an emerging class of human genetic disorders.

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• Markers of airway inflammation in primary ciliary dyskinesia studied using exhaled breath condensate

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• Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

  2005cited by this paper
• Correlation between cough frequency and airway inflammation in children with primary ciliary dyskinesia

  2005cited by this paper
• Hearing outcomes in children with primary ciliary dyskinesia--a longitudinal study.

  2005cited by this paper
• Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24–25

  2005cited by this paper
• RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

  2005cited by this paper
• Cough quality in children: a comparison of subjective vs. bronchoscopic findings

  2005cited by this paper
• Proteomic analysis of a eukaryotic cilium

  2005cited by this paper
• Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

  2005cited by this paper
• Cilia, primary ciliary dyskinesia and molecular genetics.

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• CORRECTION

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• Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation.

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• OFD1 is a centrosomal/basal body protein expressed during mesenchymal-epithelial transition in human nephrogenesis.

  2004cited by this paper
• Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions.

  2004influential reference
• Primary ciliary dyskinesia: diagnostic and phenotypic features.

  2004influential reference
• Cilia‐related diseases

  2004cited by this paper
• Central microtubular agenesis causing primary ciliary dyskinesia.

  2004cited by this paper
• Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia☆

  2003cited by this paper
• Primary ciliary dyskinesia (Siewert's / Kartagener's Syndrome): Respiratory symptoms and psycho-social impact

  2003cited by this paper
• RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

  2003cited by this paper
• Performance Comparison of Two Oscillating Positive Expiratory Pressure Devices: Acapella Versus Flutter

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• Sleep disordered breathing in an adult with cherubism

  2003cited by this paper
• Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults

  2003cited by this paper
• Polycystic kidney disease--the ciliary connection.

  2003influential reference
• Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

  2003cited by this paper
• Physiotherapy for Respiratory and Cardiac Problems: Adults and Paediatric, 3rd Edition

  2003cited by this paper
• Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

  2002cited by this paper
• Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance

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• A Proteomic Analysis of Human Cilia

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• Randomised crossover study of the Flutter device and the active cycle of breathing technique in non-cystic fibrosis bronchiectasis

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• Primary ciliary dyskinesia: age at diagnosis and symptom history

  2002cited by this paper
• Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry

  2002cited by this paper
• Primary ciliary dyskinesia

  2002cited by this paper
• Determination of left–right patterning of the mouse embryo by artificial nodal flow

  2002cited by this paper
• Physical training for bronchiectasis.

  2002cited by this paper
• Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

  2001cited by this paper
• The role of the nurse in paediatric asthma management.

  2001cited by this paper
• Homozygosity mapping as an approach for identifying genes involved in primary ciliary dyskinesia

  2001cited by this paper
• Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

  2001cited by this paper
• Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture.

  2000cited by this paper
• Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods

  2000cited by this paper
• Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia.

  1999cited by this paper
• Physiotherapy for Respiratory and Cardiac Problems

  1999cited by this paper
• Positive expiratory pressure in the physiotherapeutic management of primary ciliary dyskinesia in paediatric age.

  1999cited by this paper
• Positive expiratory pressure in the physiotherapeutic management of primary ciliary dyskinesia in paediatric age.

  1999cited by this paper
• Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia.

  1999cited by this paper
• Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

  1999cited by this paper
• Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

  1999cited by this paper
• Primary ciliary dyskinesia: diagnosis and standards of care.

  1998influential reference
• Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge.

  1998cited by this paper
• Function and structure of cilia in the fallopian tube of an infertile woman with Kartagener's syndrome.

  1997cited by this paper
• Longitudinal study of lung function in a cohort of primary ciliary dyskinesia.

  1997cited by this paper
• Treatment of otitis media with effusion in children with primary ciliary dyskinesia.

  1997cited by this paper
• Reduced upper airway nitric oxide in cystic fibrosis.

  1996cited by this paper
• Mucociliary clearance in the airways.

  1996cited by this paper
• Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome.

  1996cited by this paper
• The immotile cilia syndrome: characterization of the inflammatory response in nonsmoking patients with dysfunction of the cilia.

  1996cited by this paper
• Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome.

  1994cited by this paper
• Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome).

  1994cited by this paper
• Fertility in men with primary ciliary dyskinesia presenting with respiratory infection.

  1994cited by this paper
• Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers.

  1993cited by this paper
• New associations of primary ciliary dyskinesia syndrome

  1993cited by this paper
• Splitting the ciliary axoneme: implications for a "switch-point" model of dynein arm activity in ciliary motion.

  1989cited by this paper
• The propulsion of mucus by cilia.

  1988cited by this paper
• The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia

  1988cited by this paper
• Ciliary abnormalities in respiratory disease.

  1988cited by this paper

• Prophylactic antibiotics in chronic pediatric lung disease: balancing benefit, resistance, and future care models.

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• Novel compound heterozygous variants in DNAAF3 linked to primary ciliary dyskinesia.

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• Primary ciliary dyskinesia

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• Kartagener's Syndrome With Complications: Diagnostic Challenges in a Resource‐Limited Setting

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• Natural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort

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• Assessing Olfactory Acuity in Primary Ciliary Dyskinesia with the RSPH4A Founder Mutation

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• Efficacy of Intrapulmonary Percussive Ventilation in a Newborn With Primary Ciliary Dyskinesia

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• Systematic Comparison of Temperature Effects on Antibody Performance via Automated Image Analysis: A Key for Primary Ciliary Dyskinesia Diagnostic

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• Primary Ciliary Dyskinesia Caused by Homozygous DNAAF1 Mutations Resulting from a Consanguineous Marriage: A Case Report from Japan

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• Evaluation of Open-Source Ciliary Analysis Software in Primary Ciliary Dyskinesia: A Comparative Assessment

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• The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings

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• Lung Function in Children with Primary Ciliary Dyskinesia

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• Rediscovering Primary Cilia in Pancreatic Islets

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• Primary ciliary dyskinesia: what the general paediatrician needs to know

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• Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report

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• Exhaled Volatile Organic Compound Profiles Differ between Children with Primary Ciliary Dyskinesia and Cystic Fibrosis.

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• Primary ciliary dyskinesia: An update on contemporary diagnosis

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• Bronchodilator responsiveness in children with primary ciliary dyskinesia

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• Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review

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• Kartagener's syndrome presenting with secondary spontaneous pneumothorax: A rare case report

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• Otological Manifestations in Adults with Primary Ciliary Dyskinesia: A Controlled Radio-Clinical Study

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• The Antimicrobial Activity of Peripheral Blood Neutrophils Is Altered in Patients with Primary Ciliary Dyskinesia

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• Pathogenic variants identified using whole‐exome sequencing in Chinese patients with primary ciliary dyskinesia

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  2020cites this paper
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  2020cites this paper
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• [Repeated respiratory infections in a patient with Kartagener's Syndrome].

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  2019cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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  2018cites this paper
• Bacterial Pathogens and the Microbiome.

  2017cites this paper
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  2017cites this paper
• Nasal Nitric Oxide Measurement and a Modified PICADAR Score for the Screening of Primary Ciliary Dyskinesia in Adults with Bronchiectasis

  2017cites this paper
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  2017cites this paper
• Nasal Nitric Oxide Measurement and a Modified PICADAR Score for the Screening of Primary Ciliary Dyskinesia in Adults with Bronchiectasis Messung des nasalen Stickstoffmonoxids und ein modifizierter PICADAR-Score als Screening für primär ciliäre Dyskinesie in Erwachsenen mit Bronchiektasen

  2017cites this paper
• Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta‐analysis

  2017influential citation
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  2017cites this paper
• Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics

  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper
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  2017cites this paper