Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations (Q92667743)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

1 May 2020

title

Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

primary ciliary dyskinesia

1 May 2020

main subject

1 reference

Zhuoyao Guo

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

1 May 2020

Weicheng Chen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

1 May 2020

Jianfeng Huang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

1 May 2020

Libo Wang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

1 May 2020

Liling Qian

5

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1 May 2020

publication date

12 June 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

Journal of Human Genetics

1 May 2020

published in

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1 May 2020

volume

64

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1 May 2020

issue

8

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1 May 2020

page(s)

711-719

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

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

1 May 2020

cites work

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7 January 2021

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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects

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7 January 2021

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

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7 January 2021

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

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7 January 2021

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

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7 January 2021

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

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7 January 2021

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

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7 January 2021

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7 January 2021

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7 January 2021

Technical and practical issues for tidal breathing measurements of nasal nitric oxide in children

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7 January 2021

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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Clinical and genetic spectrum of a large cohort of children with epilepsy in China

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De novo mutations in schizophrenia implicate synaptic networks

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

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7 January 2021

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

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7 January 2021

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

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7 January 2021

Normal values of nasal NO and exhaled NO in young Chinese people aged 9 - 22 years

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7 January 2021

Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

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7 January 2021

10.1038/S10038-019-0609-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31186518 AND SRC:MED&resulttype=core&format=json

1 May 2020

1 reference