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SLC26A9 SNP RS7512462 IS NOT ASSOCIATED WITH LUNG DISEASE SEVERITY OR LUNG FUNCTION RESPONSE TO IVACAFTOR IN CYSTIC FIBROSIS PATIENTS WITH G551D-CFTR

Journal of cystic fibrosis, 2021-03, Vol.20 (5), p.851-856

2021

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Primary Ciliary Dyskinesia

Clinics in chest medicine, 2016-09, Vol.37 (3), p.449

2016

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Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

Nature communications, 2014-12, Vol.5 (1), p.5727-5727, Article 5727

2014

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Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

American journal of respiratory and critical care medicine, 2013-10, Vol.188 (8), p.913-922

2013

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Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Pediatric pulmonology, 2016-02, Vol.51 (2), p.115-132

2016

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Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

PLoS genetics, 2020-08, Vol.16 (8), p.e1008691-e1008691

2020

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

American journal of respiratory and critical care medicine, 2019-01, Vol.199 (2), p.190-198

2019

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

American journal of respiratory and critical care medicine, 2015-02, Vol.191 (3), p.316-324

2015

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Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia

American journal of respiratory and critical care medicine, 2020-08, Vol.202 (3), p.476-477

2020

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Genetic defects in ciliary structure and function

Annual review of physiology, 2007-01, Vol.69 (1), p.423-450

2007

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Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

PLoS genetics, 2019-02, Vol.15 (2), p.e1008007-e1008007

2019

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Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Annals of the American Thoracic Society, 2016-08, Vol.13 (8), p.1305-1313

2016

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Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

Genetics in medicine, 2009-07, Vol.11 (7), p.473-487

2009

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Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

The Journal of clinical investigation, 2022-09, Vol.132 (18)

2022

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Environmental risks for nontuberculous mycobacteria. Individual exposures and climatic factors in the cystic fibrosis population

Annals of the American Thoracic Society, 2014-09, Vol.11 (7), p.1032-1038

2014

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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

American journal of human genetics, 2013-08, Vol.93 (2), p.357-367

2013

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Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat

PloS one, 2014-10, Vol.9 (10), p.e107271-e107271

2014

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

American journal of human genetics, 2012-10, Vol.91 (4), p.685-693

2012

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Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation

PloS one, 2020-11, Vol.15 (11), p.e0239189-e0239189

2020

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Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

American journal of human genetics, 2009-12, Vol.85 (6), p.883-889

2009

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Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

Journal of human genetics, 2020-01, Vol.65 (2), p.175-180

2020

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Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

American journal of human genetics, 2013-01, Vol.92 (1), p.99-106

2013

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Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population

PloS one, 2018-10, Vol.13 (10), p.e0205257-e0205257

2018

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Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

International journal of molecular sciences, 2022-02, Vol.23 (3), p.1753

2022

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Primary ciliary dyskinesia in Japan: systematic review and meta-analysis

BMC pulmonary medicine, 2019-07, Vol.19 (1), p.135-135, Article 135

2019

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SLC26A9 SNP RS7512462 IS NOT ASSOCIATED WITH LUNG DISEASE SEVERITY OR LUNG FUNCTION RESPONSE TO IVACAFTOR IN CYSTIC FIBROSIS PATIENTS WITH G551D-CFTR

Primary Ciliary Dyskinesia

Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia

Primary Ciliary Dyskinesia: Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia

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

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

Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia

Genetic defects in ciliary structure and function

Genetic association and transcriptome integration identify contributing genes and tissues at cystic fibrosis modifier loci

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough

Environmental risks for nontuberculous mycobacteria. Individual exposures and climatic factors in the cystic fibrosis population

ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

Sperm-associated antigen 6 (SPAG6) deficiency and defects in ciliogenesis and cilia function: polarity, density, and beat

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

Mining GWAS and eQTL data for CF lung disease modifiers by gene expression imputation

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia

Analysis of a large cohort of cystic fibrosis patients with severe liver disease indicates lung function decline does not significantly differ from that of the general cystic fibrosis population

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

Primary ciliary dyskinesia in Japan: systematic review and meta-analysis

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