Clinical and molecular characteristics of primary ciliary dyskinesia - Concepedia

Concepedia

Publication | Open Access

Clinical and molecular characteristics of primary ciliary dyskinesia

DOI Full Paper Access

10

Citations

26

References

2021

Year

Mohammed Alzaid, Khalid Al-Mobaireek, Mohammed Almannai, Gawahir Mukhtar, Safa Eltahir, Adnan Zafar, Abdulali P. Zada, Wadha Alotaibi

International Journal of Pediatrics and Adolescent Medicine

Abstract

We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.

References

	Year	Citations
Primary Ciliary Dyskinesia Peadar G. Noone, Margaret W. Leigh, Aruna Sannuti, American Journal of Respiratory and Critical Care Medicine Recurrent Otitis MediaNeurological DisorderRespiratory DiseasesNasal Nitric OxidePathogenesis	2003	840
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia Jane S. Lucas, Angelo Barbato, Samuel A. Collins, European Respiratory Journal AsthmaDisease DiagnosisAllergyModified Delphi SurveyNasal Nitric Oxide	2016	678
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children Claudia E. Kuehni, T. Frischer, Marie‐Pierre F. Strippoli, European Respiratory Journal AsthmaDiagnosed PcdRespiratory DiseasesPediatricsDiagnosis	2010	360
DYX1C1 is required for axonemal dynein assembly and ciliary motility Nature Genetics Axonemal Dynein AssemblyPathologyCytoskeletonMedicineCell Biology	2013	291
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia Hannah M. Mitchison, Miriam Schmidts, Niki T. Loges, Nature Genetics PathologyDegenerative DiseaseNeuropathologyMedicineCell Biology	2012	279
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia Laura Behan, Borislav D. Dimitrov, Claudia E. Kuehni, European Respiratory Journal	2016	276
Standardizing Nasal Nitric Oxide Measurement as a Test for Primary Ciliary Dyskinesia Margaret W. Leigh, Milan J. Hazucha, Kunal Chawla, Annals of the American Thoracic Society	2013	264
Laterality Defects Other Than Situs Inversus Totalis in Primary Ciliary Dyskinesia Adam J. Shapiro, Stephanie D. Davis, Thomas W. Ferkol, CHEST Journal Primary Ciliary DyskinesiaCiliary BodyNeuropathology	2014	229
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6 Maimoona A. Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, The American Journal of Human Genetics PathologyNeuropathologyMedicineCell BiologyZmynd10 Is Mutated	2013	201
High-Resolution CT of Patients with Primary Ciliary Dyskinesia Marcus P. Kennedy, Peadar G. Noone, Margaret W. Leigh, American Journal of Roentgenology	2007	200

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