(Q38025037)

27 August 2017

title

Primary ciliary dyskinesia, an orphan disease (English)

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primary ciliary dyskinesia

27 August 2017

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Mieke Boon

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27 August 2017

Mark Jorissen

series ordinal

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27 August 2017

Marijke Proesmans

series ordinal

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27 August 2017

Kris De Boeck

series ordinal

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27 August 2017

publication date

10 July 2012

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European Journal of Pediatrics

27 August 2017

published in

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27 August 2017

volume

172

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27 August 2017

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27 August 2017

page(s)

151-162

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A Human Syndrome Caused by Immotile Cilia

27 August 2017

cites work

1 reference

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21 January 2018

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

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review

21 January 2018

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Early lung disease in young children with primary ciliary dyskinesia.

21 January 2018

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Heterotaxia, congenital heart disease, and primary ciliary dyskinesia.

21 January 2018

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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

21 January 2018

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Primary ciliary dyskinesia: current state of the art.

21 January 2018

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Primary ciliary dyskinesia: diagnosis and standards of care

21 January 2018

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Managing upper respiratory tract complications of primary ciliary dyskinesia in children

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Kartagener's syndrome and infertility: observation, diagnosis and treatment

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Paradoxical low nasal nitric oxide in nasal polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Ultrastructural abnormalities of bronchial cilia in children with recurrent airway infections and bronchiectasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Hydrocephalus, bronchiectasis, and ciliary aplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Long-term use of nebulized human recombinant DNase1 in two siblings with primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Longitudinal study of lung function in a cohort of primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Computer-assisted analysis helps detect inner dynein arm abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Management of primary ciliary dyskinesia: the lower airways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Primary ciliary dyskinesia and newborn respiratory distress

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Nasal and oral nitric oxide levels during experimental respiratory syncytial virus infection of adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Effect of L-arginine infusion on airway NO in cystic fibrosis and primary ciliary dyskinesia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Hydrocephalus and primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Function and structure of cilia in the fallopian tube of an infertile woman with Kartagener's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Birth of a healthy infant after intracytoplasmic sperm injection using pentoxifylline-activated sperm from a patient with Kartagener's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Bronchiolitis in Kartagener's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Comparison of exhaled and nasal nitric oxide and exhaled carbon monoxide levels in bronchiectatic patients with and without primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Obstructive azoospermia associated with chronic sinopulmonary infection and situs inversus totalis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Zur Pathogenese der Bronchiektasien

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Successful in-vitro fertilization pregnancy with spermatozoa from a patient with Kartagener's syndrome: case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Calcium stone lithoptysis in primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

High-resolution CT of patients with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Nitric oxide in upper airways inflammatory diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

The cell biological basis of ciliary disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Fertility in men with primary ciliary dyskinesia presenting with respiratory infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Primary ciliary dyskinesia: diagnostic and phenotypic features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Diagnosing primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Nasal nitric oxide levels in healthy pre-school children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Nasal nitric oxide in atypical primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Otologic features in children with primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Kartagener's syndrome and the syndrome of immotile cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Role of nasal nitric oxide in the resolution of experimental rhinovirus infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Cardiopulmonary assessment in primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Nitric oxide in primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Mucociliary clearance in the airways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Living with primary ciliary dyskinesia: a prospective qualitative study of knowledge sharing, symptom concealment, embarrassment, mistrust, and stigma

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Primary ciliary dyskinesia that responded to long-term, low-dose clarithromycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Nitric Oxide (NO) Production in the Upper Airways is Decreased in Chronic Sinusitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-012-1785-6

Agenesis of paranasal sinuses and nasal nitric oxide in primary ciliary dyskinesia

21 January 2018

1 reference

12 December 2020

In vitro fertilization in two patients with Kartagener's syndrome and infertility

1 reference

12 December 2020

Effect of aerosolized uridine-5'-triphosphate on airway clearance with cough in patients with primary ciliary dyskinesia

1 reference

12 December 2020

Lung Function in Patients with Primary Ciliary Dyskinesia

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital heart disease in primary ciliary dyskinesia

1 reference

12 December 2020

Apparent X-linked primary ciliary dyskinesia associated with retinitis pigmentosa and a hearing loss.

1 reference

12 December 2020

Genetics of human heterotaxias

1 reference

12 December 2020

1 reference

12 December 2020

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

1 reference

12 December 2020

Reduced nasal nitric oxide in diffuse panbronchiolitis

1 reference

12 December 2020

Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evaluation

1 reference

12 December 2020

The immotile cilia syndrome: radiological manifestations

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

Expression of nitric oxide synthases in primary ciliary dyskinesia

1 reference

12 December 2020

Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome

1 reference

12 December 2020

beta-Adrenergic stimulation of respiratory ciliary activity

1 reference

12 December 2020

Is resection of bronchiectasis beneficial in patients with primary ciliary dyskinesia?

1 reference

12 December 2020

Primary ciliary dyskinesia: evolution of pulmonary function

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

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

1 reference

12 December 2020

Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge

1 reference

12 December 2020

Ultrastructural expression of primary ciliary dyskinesia after ciliogenesis in culture

1 reference

12 December 2020

Primary ciliary dyskinesia: age at diagnosis and symptom history

1 reference

12 December 2020

ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities

1 reference

12 December 2020

Cardiac surgery for Kartagener syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia

1 reference

12 December 2020

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

1 reference

12 December 2020

Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia

1 reference

12 December 2020

The effects of salmeterol and salbutamol on ciliary beat frequency of cultured human bronchial epithelial cells, in vitro

1 reference

12 December 2020

The effect of regular salbutamol on lung function and bronchial responsiveness in patients with primary ciliary dyskinesia

1 reference

12 December 2020

10.1007/S00431-012-1785-6

Identifiers

DOI

1 reference

Dimensions Publication ID

27 August 2017

1011843654

0 references

1 reference