Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective
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Title
Progress in Diagnosing Primary Ciliary Dyskinesia: The North American Perspective
Authors
Keywords
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Journal
Diagnostics
Volume 11, Issue 7, Pages 1278
Publisher
MDPI AG
Online
2021-07-16
DOI
10.3390/diagnostics11071278
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Note: Only part of the references are listed.- TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
- (2020) Lucie Thomas et al. AMERICAN JOURNAL OF HUMAN GENETICS
- International consensus guideline for reporting transmission electron microscopy results in the diagnosis of Primary Ciliary Dyskinesia (BEAT PCD TEM Criteria)
- (2020) Amelia Shoemark et al. EUROPEAN RESPIRATORY JOURNAL
- A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance
- (2020) Raghu R. Chivukula et al. NATURE MEDICINE
- Limitations of Nasal Nitric Oxide Testing in Primary Ciliary Dyskinesia: Comment on “Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline”
- (2020) Adam J Shapiro et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Clinical features and management of children with primary ciliary dyskinesia in England
- (2020) Bruna Rubbo et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Homozygous truncating NEK10 mutation, associated with primary ciliary dyskinesia: a case report
- (2020) Fuad Al Mutairi et al. BMC Pulmonary Medicine
- Mutation of CFAP57, a protein required for the asymmetric targeting of a subset of inner dynein arms in Chlamydomonas, causes primary ciliary dyskinesia
- (2020) Ximena M. Bustamante-Marin et al. PLoS Genetics
- Late Diagnosis of Infants with PCD and Neonatal Respiratory Distress
- (2020) Myrofora Goutaki et al. Journal of Clinical Medicine
- Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
- (2019) Ximena M. Bustamante-Marin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases
- (2019) Zofia N. Zysman-Colman et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia
- (2019) Bruna Rubbo et al. CHEST
- Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility
- (2019) Chunyu Liu et al. JOURNAL OF MEDICAL GENETICS
- Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)
- (2019) Wensheng Liu et al. JOURNAL OF MEDICAL GENETICS
- High-Speed Videomicrosopy Analysis Presents Limitations in Diagnosis of Primary Ciliary Dyskinesia
- (2019) Adam J Shapiro et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics
- (2019) Sandra Cindrić et al. AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
- ERS and ATS diagnostic guidelines for primary ciliary dyskinesia: similarities and differences in approach to diagnosis
- (2019) Amelia Shoemark et al. EUROPEAN RESPIRATORY JOURNAL
- De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
- (2019) Julia Wallmeier et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Errors in Methodology Affect Diagnostic Accuracy of High-Speed Videomicroscopy Analysis in Primary Ciliary Dyskinesia
- (2019) Adam J. Shapiro et al. CHEST
- Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia
- (2019) Ximena M. Bustamante-Marin et al. JOURNAL OF HUMAN GENETICS
- C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
- (2018) Mahmoud R. Fassad et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline
- (2018) Adam J. Shapiro et al. AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
- Adenoid hypertrophy affects screening for primary ciliary dyskinesia using nasal nitric oxide
- (2018) Tomas Rybnikar et al. INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
- Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
- (2018) Niki T. Loges et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
- (2018) Serge Bonnefoy et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutation of serine/threonine protein kinase 36 (STK36 ) causes primary ciliary dyskinesia with a central pair defect
- (2017) Christine Edelbusch et al. HUMAN MUTATION
- High prevalence ofCCDC103p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
- (2017) Amelia Shoemark et al. THORAX
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
- (2016) Jane S. Lucas et al. EUROPEAN RESPIRATORY JOURNAL
- 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
- 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
- Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
- (2015) Christian R. Marshall et al. G3-Genes Genomes Genetics
- 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
- 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 and Neonatal Respiratory Distress
- (2014) Tara Mullowney et al. PEDIATRICS
- Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesia
- (2014) Jianfeng Lin et al. Nature Communications
- Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias
- (2014) Amanda Harris et al. BMC Pulmonary Medicine
- Nasal Nitric Oxide Levels and Nasal Polyposis in Children and Adolescents With Cystic Fibrosis
- (2014) Karin M. de Winter–de Groot et al. JAMA Otolaryngology-Head & Neck Surgery
- 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
- Impact of Cilia Ultrastructural Examination on the Diagnosis of Primary Ciliary Dyskinesia
- (2013) Tregony Simoneau et al. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
- Hand-Held Tidal Breathing Nasal Nitric Oxide Measurement – A Promising Targeted Case-Finding Tool for the Diagnosis of Primary Ciliary Dyskinesia
- (2013) June Kehlet Marthin et al. PLoS One
- Nitric oxide in primary ciliary dyskinesia
- (2012) Woolf T. Walker et al. EUROPEAN RESPIRATORY JOURNAL
- RPGRmutations might cause reduced orientation of respiratory cilia
- (2012) Zuzanna Bukowy-Bieryłło et al. PEDIATRIC PULMONOLOGY
- Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
- (2011) A Shoemark et al. JOURNAL OF CLINICAL PATHOLOGY
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