Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

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

(2013) Maureen Wirschell et al.   NATURE GENETICS

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

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

(2012) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

(2012) Dinu Antony et al.   HUMAN MUTATION

Mutations in Radial Spoke Head Genes and Ultrastructural Cilia Defects in East-European Cohort of Primary Ciliary Dyskinesia Patients

(2012) Ewa Ziętkiewicz et al.   PLoS One

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

(2009) A. Barbato et al.   EUROPEAN RESPIRATORY JOURNAL

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

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

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

(2009) Margaret W Leigh et al.   GENETICS IN MEDICINE

Increased nasal epithelial ciliary beat frequency associated with lifestyle tobacco smoke exposure

(2009) Haibo Zhou et al.   INHALATION TOXICOLOGY