Associated Papers
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
Toro MDC et al.
Genes, 2022
Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases.
Antony D et al.
Frontiers in Genetics, 2022
Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula.
Al-Mutairi DA et al.
Frontiers in Genetics, 2022
Genetic basis of human left-right asymmetry disorders.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Raidt J et al.
The European Respiratory Journal, 2014
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome.
Leigh MW et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2009
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Loges NT et al.
American Journal of Human Genetics, 2008
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