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

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure

(2013) Christelle Vallet et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2013) Maureen Wirschell et al.   NATURE GENETICS

CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

(2013) Amjad Horani et al.   PLoS One

Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

(2012) Amjad Horani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia

(2012) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

(2012) Alexandros Onoufriadis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ciliary Beat Pattern Analysis Below 37°C May Increase Risk of Primary Ciliary Dyskinesia Misdiagnosis

(2012) Claire L. Jackson et al.   CHEST

Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis

(2012) Massimo Pifferi et al.   EUROPEAN RESPIRATORY JOURNAL

Multi-ethnic reference values for spirometry for the 3–95-yr age range: the global lung function 2012 equations

(2012) Philip H. Quanjer et al.   EUROPEAN RESPIRATORY JOURNAL

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

(2012) Jennifer R Panizzi et al.   NATURE GENETICS

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

(2012) Hannah M Mitchison et al.   NATURE GENETICS

Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit?: Table 1

(2012) Claire Hogg et al.   THORAX

Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required

(2011) C. O'Callaghan et al.   EUROPEAN RESPIRATORY JOURNAL

Lung Function in Patients with Primary Ciliary Dyskinesia

(2010) June K. Marthin et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

(2010) C. E. Kuehni et al.   EUROPEAN RESPIRATORY JOURNAL

References for growth and pubertal development from birth to 21 years in Flanders, Belgium

(2009) M. Roelants et al.   ANNALS OF HUMAN BIOLOGY

A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia

(2009) J. F. Papon et al.   EUROPEAN RESPIRATORY JOURNAL