(Q34991358)

5 August 2017

Diagnosis and management of primary ciliary dyskinesia. (English)

1 reference

primary ciliary dyskinesia

5 August 2017

1 reference

1 reference

1

Claudius Werner

1 reference

5 August 2017

3

Heymut Omran

1 reference

5 August 2017

Jörg Große Onnebrink

2

1 reference

5 August 2017

22 January 2015

1 reference

5 August 2017

1 reference

5 August 2017

4

1 reference

5 August 2017

1

1 reference

5 August 2017

2

1 reference

Creative Commons Attribution 4.0 International

5 August 2017

start time

22 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/s13630-014-0011-8

0 references

cites work

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Diagnosis and management of primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

DYX1C1 is required for axonemal dynein assembly and ciliary motility

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Hand-held tidal breathing nasal nitric oxide measurement--a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Middle ear ventilation in children with primary ciliary dyskinesia.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Nitric oxide in primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

The challenges of diagnosing primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Disrupted ciliated epithelium shows slower ciliary beat frequency and increased dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

A Human Syndrome Caused by Immotile Cilia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4300728

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

High prevalence of primary ciliary dyskinesia in a British Asian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

High-resolution CT of patients with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

Magnetic resonance imaging is an accurate and reliable method to evaluate non-cystic fibrosis paediatric lung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

Sleep disordered breathing and airway disease in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

Sleep disordered breathing in patients with primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

Hearing outcomes in children with primary ciliary dyskinesia--a longitudinal study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13630-014-0011-8

Treatment of idiopathic bronchiectasis with aerosolized recombinant human DNase I. rhDNase Study Group

21 January 2018

1 reference

12 December 2020

Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required

1 reference

12 December 2020

Progression of lung disease in primary ciliary dyskinesia: Is spirometry less accurate than CT?

1 reference

12 December 2020

Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia

1 reference

12 December 2020

Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia

1 reference

12 December 2020

Secondary ciliary dyskinesia is absent after ciliogenesis in culture

1 reference

12 December 2020

10.1186/S13630-014-0011-8

Identifiers

DOI

1 reference

PubMed ID

25610612

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference

PubMed ID

25610612