Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure

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

(2016) Gerard W. Dougherty et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options

(2016) James J L Tee et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Systematic Analysis ofCCNOVariants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

(2016) Israel Amirav et al.   HUMAN MUTATION

Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis

(2016) Panayiotis Kouis et al.   PEDIATRIC RESEARCH

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

(2015) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

(2015) Ludovic Jeanson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Features of Childhood Primary Ciliary Dyskinesia by Genotype and Ultrastructural Phenotype

(2015) Stephanie D. Davis et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

(2015) Adrien Frommer et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

(2015) Adam J. Shapiro et al.   PEDIATRIC PULMONOLOGY

Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

(2014) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia

(2014) Adam J Shapiro et al.   CHEST

Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography

(2014) Thomas Burgoyne et al.   Cytoskeleton

Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population

(2014) Jillian P Casey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Johanna Raidt et al.   EUROPEAN RESPIRATORY JOURNAL

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

(2014) Alexandros Onoufriadis et al.   HUMAN MOLECULAR GENETICS

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

(2014) Julia Wallmeier et al.   NATURE GENETICS

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

(2014) Mieke Boon et al.   Orphanet Journal of Rare Diseases

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

(2014) Mieke Boon et al.   Nature Communications

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

(2013) Christina Austin-Tse et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

(2013) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary Ciliary Dyskinesia. Recent Advances in Diagnostics, Genetics, and Characterization of Clinical Disease

(2013) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

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

(2013) M. Leigh Anne Daniels et al.   HUMAN MUTATION

The N-DRC forms a conserved biochemical complex that maintains outer doublet alignment and limits microtubule sliding in motile axonemes

(2013) Raqual Bower et al.   MOLECULAR BIOLOGY OF THE CELL

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

(2013) Maureen Wirschell et al.   NATURE GENETICS

Picking up speed: advances in the genetics of primary ciliary dyskinesia

(2013) Amjad Horani et al.   PEDIATRIC RESEARCH

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

(2013) Amjad Horani et al.   PLoS One

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

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

From a Single Whole Exome Read to Notions of Clinical Screening: Primary Ciliary Dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

(2012) Muslim M. AlSaadi et al.   ANNALS 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

Delineation ofCCDC39/CCDC40mutation spectrum and associated phenotypes in primary ciliary dyskinesia

(2012) Sylvain Blanchon et al.   JOURNAL OF MEDICAL GENETICS

RPGRmutations might cause reduced orientation of respiratory cilia

(2012) Zuzanna Bukowy-Bieryłło et al.   PEDIATRIC PULMONOLOGY

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

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

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD

(2011) Jane S. Lucas et al.   HUMAN MUTATION

Mutations ofDNAH11in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

(2011) Michael R Knowles et al.   THORAX

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

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

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

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

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutations

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