Associated Papers
[Clinical and genetic analysis of a patient with FSIP2 compound heterozygous variants causing multiple morphological abnormalities of sperm flagella].
Chen YQ et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2025
Identification of a Homozygous Mutation of CCDC40 in a Chinese Infertile Man with MMAF and PCD-like Phenotypes.
Liu Z et al.
Genetic Testing and Molecular Biomarkers, 2024
38837151 (PubMed )
Supplement: sj-pdf-4-gtm-10.1089_gtmb.2023.0263.pdf
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
Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella.
Xu Y et al.
Pharmacogenomics and Personalized Medicine, 2022
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Pifferi M et al.
Annals of the American Thoracic Society, 2021
33760720 (PubMed )
Supplement: pifferi_data_supplement.pdf
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
Fassad MR et al.
Journal of Medical Genetics, 2020
Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia.
Fassad MR et al.
Clinical Genetics, 2020
Clinical and Genetic Analysis of Children with Kartagener Syndrome.
Pereira R et al.
Cells, 2019
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