(Q30577804)

12 September 2017

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

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primary ciliary dyskinesia

12 September 2017

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Mieke Boon

1

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Anne Smits

object named as

Anne Smits

2

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author name string

Harry Cuppens

3

1 reference

12 September 2017

Martine Jaspers

4

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12 September 2017

Marijke Proesmans

5

1 reference

12 September 2017

Lieven J Dupont

6

1 reference

12 September 2017

Francois L Vermeulen

7

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12 September 2017

Sabine Van Daele

8

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12 September 2017

Anne Malfroot

9

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12 September 2017

Veronique Godding

10

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12 September 2017

Mark Jorissen

11

1 reference

12 September 2017

Kris De Boeck

12

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12 September 2017

22 January 2014

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Orphanet Journal of Rare Diseases

12 September 2017

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12 September 2017

9

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12 September 2017

11

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https://scigraph.springernature.com/pub.10.1186/1750-1172-9-11

12 September 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Multi-ethnic reference values for spirometry for the 3-95-yr age range: the global lung function 2012 equations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

The emerging genetics of primary ciliary dyskinesia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Diagnosing primary ciliary dyskinesia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Primary ciliary dyskinesia: current state of the art.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Genetic causes of bronchiectasis: primary ciliary dyskinesia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Primary ciliary dyskinesia: age at diagnosis and symptom history

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Dynein arms and spokes after ciliogenesis in cultured respiratory epithelial cells from non-PCD individuals

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Primary ciliary dyskinesia: diagnostic and phenotypic features.

20 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

Abnormal central complex is a marker of severity in the presence of partial ciliary defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

References for growth and pubertal development from birth to 21 years in Flanders, Belgium

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

Computer-assisted analysis helps detect inner dynein arm abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

Ciliary Beat Pattern Analysis Below 37°C May Increase Risk of Primary Ciliary Dyskinesia Misdiagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-9-11

Early lung disease in young children with primary ciliary dyskinesia.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4016480

Lung Function in Patients with Primary Ciliary Dyskinesia

26 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit?

1 reference

12 December 2020

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

1 reference

12 December 2020

Secondary ciliary dyskinesia is absent after ciliogenesis in culture

1 reference

12 December 2020

Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture

1 reference

12 December 2020

Ciliary function analysis for the diagnosis of primary ciliary dyskinesia: advantages of ciliogenesis in culture

1 reference

12 December 2020

Ciliogenesis and coordinated ciliary beating in human nasal epithelial cells cultured in vitro

1 reference

12 December 2020

Primary ciliary dyskinesia: ultrastructural defects and clinical features

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

Identifiers

DOI

10.1186/1750-1172-9-11

1 reference

Dimensions Publication ID

12 September 2017

0 references

1 reference

12 September 2017

PubMed publication ID

24450482

1 reference