Associated Papers
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
Genetic etiological spectrum of sperm morphological abnormalities.
Arora M et al.
Journal of Assisted Reproduction and Genetics, 2024
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
Pathogenic gene variants in CCDC39, CCDC40, RSPH1, RSPH9, HYDIN, and SPEF2 cause defects of sperm flagella composition and male infertility.
Aprea I et al.
Frontiers in Genetics, 2023
Molecular defects in primary ciliary dyskinesia are associated with agenesis of the frontal and sphenoid paranasal sinuses and chronic rhinosinusitis.
Schramm A et al.
Frontiers in Molecular Biosciences, 2023
Limitations of Nasal Nitric Oxide Measurement for Diagnosis of Primary Ciliary Dyskinesia with Normal Ultrastructure.
Raidt J et al.
Annals of the American Thoracic Society, 2022
35202559 (PubMed )
Supplement: raidt_data_supplement.pdf
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
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