Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Cooling of Cilia Allows Functional Analysis of the Beat Pattern for Diagnostic Testing

(2010) Claire M. Smith et al.   CHEST

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

(2010) Anita Becker-Heck et al.   NATURE GENETICS

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm Defects

(2009) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Diagnostic Testing of Patients Suspected of Primary Ciliary Dyskinesia

(2009) Wendy A. Stannard et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

High prevalence of primary ciliary dyskinesia in a British Asian population

(2009) C O'Callaghan et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

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

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia

(2009) M Failly et al.   JOURNAL OF MEDICAL GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it

(2009) Claire Hogg   Paediatric Respiratory Reviews

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

(2008) Niki Tomas Loges et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nasal nitric oxide for early diagnosis of familial primary ciliary dyskinesia

(2008) A Bodini et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

(2008) Heymut Omran et al.   NATURE

DNAI1 Mutations Explain Only 2% of Primary Ciliary Dykinesia

(2008) Mike Failly et al.   RESPIRATION

Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: Practical issues in children

(2008) Giorgio L. Piacentini et al.   RESPIRATORY MEDICINE

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

(2007) Georg C. Schwabe et al.   HUMAN MUTATION