A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
Open Access
- 19 October 2009
- journal article
- research article
- Published by European Respiratory Society (ERS) in European Respiratory Journal
- Vol. 35 (5), 1057-1063
- https://doi.org/10.1183/09031936.00046209
Abstract
Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis of primary ciliary dyskinesia (PCD). We report our extensive experience of TEM analysis in a large series of patients in order to evaluate its feasibility and results.Keywords
This publication has 16 references indexed in Scilit:
- Primary ciliary dyskinesia: improving the diagnostic approachCurrent Opinion in Pediatrics, 2009
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair AbnormalitiesAmerican Journal of Human Genetics, 2009
- Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneinsNature, 2008
- DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein ArmAmerican Journal of Human Genetics, 2008
- Primary ciliary dyskinesia: current state of the artArchives of Disease in Childhood, 2007
- Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused byDNAH11mutationsHuman Mutation, 2007
- A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaProceedings of the National Academy of Sciences of the United States of America, 2007
- The Ciliopathies: An Emerging Class of Human Genetic DisordersAnnual Review of Genomics and Human Genetics, 2006
- RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosaJournal of Medical Genetics, 2005
- Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetryNature Genetics, 2002