Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics (Q36276303)

13 August 2017

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title

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics (English)

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primary ciliary dyskinesia

13 August 2017

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2

Heymut Omran

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13 August 2017

author name string

Karin Storm van's Gravesande

series ordinal

1

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13 August 2017

language of work or name

English

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publication date

1 January 2005

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13 August 2017

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13 August 2017

volume

37

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13 August 2017

issue

6

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13 August 2017

page(s)

439-449

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A Human Syndrome Caused by Immotile Cilia

13 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

21 January 2018

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Genetics and pulmonary medicine. 6. Immotile cilia syndrome: past, present, and prospects for the future

21 January 2018

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

21 January 2018

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PCD and RP: X-linked inheritance of both disorders?

21 January 2018

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Primary ciliary dyskinesia: diagnosis and standards of care

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890510011985

Primary ciliary dyskinesia (PCD).

21 January 2018

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Fertility in men with primary ciliary dyskinesia presenting with respiratory infection

21 January 2018

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Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency

21 January 2018

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https://api.crossref.org/works/10.1080%2F07853890510011985

Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6

21 January 2018

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Nasal brushing and measurement of ciliary beat frequency. An in vitro method for evaluating pharmacologic effects on human cilia

21 January 2018

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Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults

21 January 2018

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Nasal ciliary beat frequency is age independent

21 January 2018

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Ciliary beat frequency in newborn infants

21 January 2018

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

21 January 2018

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Nasal mucociliary clearance and ciliary beat frequency in cystic fibrosis compared with sinusitis and bronchiectasis

21 January 2018

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To beat or not to beat: roles of cilia in development and disease

21 January 2018

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Computer-assisted analysis helps detect inner dynein arm abnormalities.

21 January 2018

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Synthesis of nitric oxide from L-arginine: a recently discovered pathway induced by cytokines with antitumour and antimicrobial activity

21 January 2018

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

21 January 2018

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

21 January 2018

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Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

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Reduced Nitric Oxide in Sinus Epithelium of Patients with Radiologic Maxillary Sinusitis and Sepsis

21 January 2018

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Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia

21 January 2018

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Expression of primary cilia in mammalian cells

21 January 2018

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Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

21 January 2018

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Immotile-cilia syndrome and the cilia of the eye.

21 January 2018

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Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers

21 January 2018

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DYNEINS: molecular structure and cellular function

21 January 2018

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The dynein heavy chain: structure, mechanics and evolution

21 January 2018

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Assembly and motility of eukaryotic cilia and flagella. Lessons from Chlamydomonas reinhardtii

21 January 2018

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Identification, tissue specific expression, and chromosomal localisation of several human dynein heavy chain genes

21 January 2018

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Exploring the function of inner and outer dynein arms with Chlamydomonas mutants

21 January 2018

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Bending patterns of Chlamydomonas flagella: IV. Mutants with defects in inner and outer dynein arms indicate differences in dynein arm function

21 January 2018

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Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene

21 January 2018

1 reference

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

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

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Identification of a 5? splice site mutation in theRPGR gene in a family with X-linked retinitis pigmentosa (RP3)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

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/10.1080%2F07853890510011985

Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Genotype-phenotype correlations in PCD patients carrying DNAH5 mutations

21 January 2018

1 reference

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

21 January 2018

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RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

21 January 2018

1 reference

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Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Identification of the human ortholog of the t-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Isolation and expression of the human hPF20 gene orthologous to Chlamydomonas PF20: evaluation as a candidate for axonemal defects of respiratory cilia and sperm flagella.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890510011985

10.1080/07853890510011985

21 January 2018

Identifiers

DOI

1 reference

13 August 2017

1 reference