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Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association

The European respiratory journal, 2017-11, Vol.50 (5), p.1700314-1700314

2017

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Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study

Lung, 2024-06, Vol.202 (3), p.291-298

2024

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

PLoS genetics, 2009-03, Vol.5 (3), p.e1000422-e1000422

2009

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Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Nature genetics, 2014-06, Vol.46 (6), p.646-651

2014

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MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Nature communications, 2014-07, Vol.5 (1), p.4418-4418, Article 4418

2014

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

Orphanet journal of rare diseases, 2014-01, Vol.9 (1), p.11-11

2014

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Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

American journal of respiratory cell and molecular biology, 2015-10, Vol.53 (4), p.563-573

2015

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DYX1C1 is required for axonemal dynein assembly and ciliary motility

Nature genetics, 2013-09, Vol.45 (9), p.995-1003

2013

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Differential antiviral activities of respiratory syncytial virus (RSV) inhibitors in human airway epithelium

Journal of antimicrobial chemotherapy, 2018-07, Vol.73 (7), p.1823-1829

2018

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Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?

The European respiratory journal, 2013-10, Vol.42 (4), p.1159-1161

2013

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The Influence of Nebulized Drugs on Nasal Ciliary Activity

Journal of aerosol medicine and pulmonary drug delivery, 2016-08, Vol.29 (4), p.378-385

2016

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Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

Human mutation, 1999, Vol.13 (3), p.197-202

1999

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

The Journal of clinical investigation, 1998-01, Vol.101 (2), p.487-496

1998

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Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis

Journal of hepatology, 2009-01, Vol.50 (1), p.150-157

2009

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Cilia, Ciliary Movement, and Mucociliary Transport

Nasal Physiology and Pathophysiology of Nasal Disorders, 2023, p.29-40

2023

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Testing of Transport and Measurement of Ciliary Activity

Nasal Physiology and Pathophysiology of Nasal Disorders, 2023, p.363-367

2023

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Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells

BMC physiology, 2001-05, Vol.1 (1), p.3-3, Article 3

2001

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Localization of α4m integrin at sites of mesenchyme condensation during embryonic mouse development

Differentiation (London), 1995-09, Vol.59 (2), p.79-86

1995

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Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy: e1000422

PLoS genetics, 2009-03, Vol.5 (3)

2009

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Mutations of the Cystic Fibrosis Gene and Intermediate Sweat Chloride Levels in Children

American journal of respiratory and critical care medicine, 2002-03, Vol.165 (6), p.757-761

2002

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Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel

FEBS letters, 2005-06, Vol.579 (16), p.3392-3396

2005

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Characterization of 19 Disease-Associated Missense Mutations in the Regulatory Domain of the Cystic Fibrosis Transmembrane Conductance Regulator

Human molecular genetics, 1998-10, Vol.7 (11), p.1761-1769

1998

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Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression

Biochemical and biophysical research communications, 2003-05, Vol.304 (2), p.248-252

2003

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Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association

Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study

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

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

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

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Differential antiviral activities of respiratory syncytial virus (RSV) inhibitors in human airway epithelium

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%?

The Influence of Nebulized Drugs on Nasal Ciliary Activity

Mutation analysis in adenylosuccinate lyase deficiency: Eight novel mutations in the re-evaluated full ADSL coding sequence

Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

Cystic fibrosis transmembrane conductance regulator gene polymorphisms in patients with primary sclerosing cholangitis

Cilia, Ciliary Movement, and Mucociliary Transport

Testing of Transport and Measurement of Ciliary Activity

Functional interaction between TRP4 and CFTR in mouse aorta endothelial cells

Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Localization of α4m integrin at sites of mesenchyme condensation during embryonic mouse development

Ciliary Beating Recovery in Deficient Human Airway Epithelial Cells after Lentivirus Ex Vivo Gene Therapy: e1000422

Mutations of the Cystic Fibrosis Gene and Intermediate Sweat Chloride Levels in Children

Interaction of the protein phosphatase 2A with the regulatory domain of the cystic fibrosis transmembrane conductance regulator channel

Characterization of 19 Disease-Associated Missense Mutations in the Regulatory Domain of the Cystic Fibrosis Transmembrane Conductance Regulator

Functional analysis of CFTR chloride channel activity in cells with elevated MDR1 expression

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