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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

Frontiers in pediatrics, 2017-06, Vol.5, p.135

2017

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

American journal of human genetics, 2018-12, Vol.103 (6), p.995-1008

2018

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Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

The European respiratory journal, 2014-12, Vol.44 (6), p.1579-1588

2014

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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 nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

Nature genetics, 2013-03, Vol.45 (3), p.262-268

2013

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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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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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Ciliary function and motor protein composition of human fallopian tubes

Human reproduction (Oxford), 2015-12, Vol.30 (12), p.2871-2880

2015

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DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

American journal of respiratory cell and molecular biology, 2016-08, Vol.55 (2), p.213-224

2016

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An international registry for primary ciliary dyskinesia

The European respiratory journal, 2016-03, Vol.47 (3), p.849-859

2016

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The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

The European respiratory journal, 2017-01, Vol.49 (1), p.1601181-1601181

2017

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Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia?

Ultrastructural pathology, 2017-11, Vol.41 (6), p.386-389

2017

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Meningitis without Rash after Reactivation of Varicella Vaccine Strain in a 12-Year-Old Immunocompetent Boy

Vaccines (Basel), 2023-01, Vol.11 (2), p.309

2023

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Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia

Pediatric research, 2016-05, Vol.79 (5), p.731-735

2016

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European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

The European respiratory journal, 2017-01, Vol.49 (1), p.1601090-1601090

2017

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Diagnosis and management of primary ciliary dyskinesia

Cilia (London), 2015-01, Vol.4 (1), p.2-2, Article 2

2015

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Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

American journal of human genetics, 2017-01, Vol.100 (1), p.160-168

2017

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Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways

Developmental cell, 2017-12, Vol.43 (6), p.744-762.e11

2017

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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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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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Chest physiotherapy can affect the lung clearance index in cystic fibrosis patients

Pediatric pulmonology, 2017-05, Vol.52 (5), p.625-631

2017

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Metabolic rate analysis of healthy preterm and full-term infants during the first weeks of life

The American journal of clinical nutrition, 2009-12, Vol.90 (6), p.1517-1524

2009

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Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial

The lancet respiratory medicine, 2020-05, Vol.8 (5), p.493-505

2020

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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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Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

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

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

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

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

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

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

Ciliary function and motor protein composition of human fallopian tubes

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

An international registry for primary ciliary dyskinesia

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia?

Meningitis without Rash after Reactivation of Varicella Vaccine Strain in a 12-Year-Old Immunocompetent Boy

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Diagnosis and management of primary ciliary dyskinesia

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

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

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

Chest physiotherapy can affect the lung clearance index in cystic fibrosis patients

Metabolic rate analysis of healthy preterm and full-term infants during the first weeks of life

Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial

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

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