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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

American journal of human genetics, 2012-10, Vol.91 (4), p.672-684

2012

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

American journal of human genetics, 2015-10, Vol.97 (4), p.546-554

2015

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SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

American journal of respiratory cell and molecular biology, 2020-03, Vol.62 (3), p.382-396

2020

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

Nature genetics, 2011-01, Vol.43 (1), p.79-84

2011

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Quantitative 99mTc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia

ERJ open research, 2023-09, Vol.9 (5)

2023

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Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia

ERJ open research, 2023-11, Vol.9 (6), p.685

2023

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Lung Function in Patients with Primary Ciliary Dyskinesia: A Cross-Sectional and 3-Decade Longitudinal Study

American journal of respiratory and critical care medicine, 2010-06, Vol.181 (11), p.1262-1268

2010

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Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations

American journal of medical genetics. Part C, Seminars in medical genetics, 2022-03, Vol.190 (1), p.20-35

2022

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Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard

The European respiratory journal, 2023-04, Vol.61 (4), p.2202031

2023

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Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia

Pediatric pulmonology, 2014-12, Vol.49 (12), p.1243-1250

2014

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Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection

The European respiratory journal, 2018-06, Vol.51 (6), p.1702503-1702503

2018

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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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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

BMC proceedings, 2018-12, Vol.12 (Suppl 16), p.64-15, Article 64

2018

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A retrospective review of Achromobacter species and antibiotic treatments in patients with primary ciliary dyskinesia

Chronic respiratory disease, 2021-11, Vol.18, p.14799731211061600-14799731211061600

2021

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Proof of Concept: Very Rapid Tidal Breathing Nasal Nitric Oxide Sampling Discriminates Primary Ciliary Dyskinesia from Healthy Subjects

Lung, 2019-04, Vol.197 (2), p.209-216

2019

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Quantitative 99m Tc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia

ERJ open research, 2023-09, Vol.9 (5), p.345

2023

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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

American journal of human genetics, 2013-08, Vol.93 (2), p.346-356

2013

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The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

ERJ open research, 2022-07, Vol.8 (3), p.139

2022

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Chronic pulmonary alterations in children with long-lasting productive cough

Ugeskrift for læger, 2009-01, Vol.171 (5), p.322

2009

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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

BMC proceedings, 2018, Vol.12, p.64-64

2018

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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

American journal of human genetics, 2014-09, Vol.95 (3), p.257-274

2014

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Lesions of the lacrimal drainage system: a clinicopathological study of 643 biopsy specimens of the lacrimal drainage system in Denmark 1910−1999

Acta ophthalmologica Scandinavica, 2005-02, Vol.83 (1), p.94-99

2005

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Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

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

SPEF2- and HYDIN -Mutant Cilia Lack the Central Pair-associated Protein SPEF2, Aiding Primary Ciliary Dyskinesia Diagnostics

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

Quantitative 99mTc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia

Pulmonary radioaerosol mucociliary clearance assessment: searching for genotype-specific differences and potential as an outcome measure in primary ciliary dyskinesia

International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives

Lung Function in Patients with Primary Ciliary Dyskinesia: A Cross-Sectional and 3-Decade Longitudinal Study

Chronic airway disease in primary ciliary dyskinesia—spiced with geno–phenotype associations

Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard

Multicenter analysis of body mass index, lung function, and sputum microbiology in primary ciliary dyskinesia

Infant nasal nitric oxide over time: natural evolution and impact of respiratory tract infection

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

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

A retrospective review of Achromobacter species and antibiotic treatments in patients with primary ciliary dyskinesia

Proof of Concept: Very Rapid Tidal Breathing Nasal Nitric Oxide Sampling Discriminates Primary Ciliary Dyskinesia from Healthy Subjects

Quantitative 99m Tc-albumin colloid nasal mucociliary clearance as an outcome in primary ciliary dyskinesia

Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN

Nature Genetics

Chronic pulmonary alterations in children with long-lasting productive cough

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Lesions of the lacrimal drainage system: a clinicopathological study of 643 biopsy specimens of the lacrimal drainage system in Denmark 1910−1999

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