Associated Papers
Biallelic c.2709del and c.3020T>G cause DNAH11-related primary ciliary dyskinesia presenting with Kartagener syndrome: Possible novel phenotype of diffuse-twisting wave-like movements of airway epithelial cell populations.
Umeda A et al.
Respiratory Investigation, 2025
Genetic aspects of congenital heart disease in heterotaxy syndrome.
Ahmad Rafie NN et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology, 2025
Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility.
Guo S et al.
Human Genomics, 2024
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Xu Y et al.
Journal of Human Genetics, 2023
Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.
Yi T et al.
Frontiers in Genetics, 2022
A novel DNAH11 variant segregating in a sibship with heterotaxy and implications for genetic counseling.
Namavarian A et al.
Molecular Genetics & Genomic Medicine, 2020
DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome.
Liu S et al.
Scientific Reports, 2019
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome.
Yue Y et al.
Frontiers in Genetics, 2019
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