Associated Papers
The intricate dance of RNA-binding proteins: unveiling the mechanisms behind male infertility.
Gao Y et al.
Human Reproduction Update, 2026
Noncoding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia.
Briggs L et al.
American Journal of Respiratory and Critical Care Medicine, 2025
40758541 (PubMed )
Supplement: briggs_data_supplement.pdf
[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
The Molecular Basis of Multiple Morphological Abnormalities of Sperm Flagella and Its Impact on Clinical Practice.
Zhou Y et al.
Genes, 2024
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
Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
Wilken A et al.
Cells, 2024
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf
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
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