(Q36880306)

16 August 2017

1 reference

title

Primary ciliary dyskinesia: improving the diagnostic approach (English)

1 reference

primary ciliary dyskinesia

16 August 2017

1 reference

1 reference

2

Maimoona A Zariwala

1 reference

16 August 2017

Margaret W Leigh

1

1 reference

PMCID

3665363

16 August 2017

Michael R Knowles

series ordinal

3

1 reference

16 August 2017

1 June 2009

1 reference

Current Opinion in Pediatrics

16 August 2017

1 reference

16 August 2017

21

1 reference

16 August 2017

3

1 reference

16 August 2017

320-325

1 reference

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Structural and functional lung disease in primary ciliary dyskinesia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Structure and function of mammalian cilia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

The cell biological basis of ciliary disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

When cilia go bad: cilia defects and ciliopathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Measurement of nasal nitric oxide

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia: current state of the art.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia and newborn respiratory distress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia: age at diagnosis and symptom history

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Reduced upper airway nitric oxide in cystic fibrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Diagnosing primary ciliary dyskinesia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Early lung disease in young children with primary ciliary dyskinesia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Nasal nitric oxide assessment in primary ciliary dyskinesia using aspiration, exhalation, and humming.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Heterotaxia, congenital heart disease, and primary ciliary dyskinesia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

High-resolution CT of patients with primary ciliary dyskinesia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Nitric oxide-dependent cilia regulatory enzyme localization in bovine bronchial epithelial cells

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia: diagnostic and phenotypic features.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia as a cause of neonatal respiratory distress: implications for the neonatologist.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Nasal nitric oxide measurements for the screening of primary ciliary dyskinesia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Paradoxical low nasal nitric oxide in nasal polyposis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Primary ciliary dyskinesia: diagnosis and standards of care

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3665363

Modulation of airway epithelial cell ciliary beat frequency by nitric oxide

4 September 2018

1 reference

12 December 2020

Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care

1 reference

12 December 2020

Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia

1 reference

12 December 2020

Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children

1 reference

12 December 2020

A methodology for measurements of nasal nitric oxide in children under 5 yr

1 reference

12 December 2020

Candidate gene analysis in three families with acilia syndrome

1 reference

12 December 2020

DNAI1 mutations explain only 2% of primary ciliary dykinesia

1 reference

12 December 2020

Measurement of nasal nitric oxide: evaluation of six different sampling methods

1 reference

12 December 2020

Reduced nasal nitric oxide in diffuse panbronchiolitis

1 reference

12 December 2020

10.1097/MOP.0B013E328329CDDB

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

1 reference

PMCID

3665363