Associated Papers
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Kondratyeva EI et al.
International Journal of Molecular Sciences, 2025
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
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
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
[Clinical and genetic characteristics of a case of primary ciliary dyskinesia caused by new frameshift mutation of the DNAH5 gene].
Li MY et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2024
Analysis of Aberrant Splicing Events and Gene Expression Outliers in Primary Ciliary Dyskinesia.
Hijikata M et al.
American Journal of Respiratory Cell and Molecular Biology, 2023
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari S et al.
Genes, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.
Nöthe-Menchen T et al.
Circulation. Genomic and Precision Medicine, 2019
A Japanese Case of Primary Ciliary Dyskinesia with DNAH5 Mutations.
Orimo M et al.
Internal Medicine (tokyo, Japan), 2019
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.
Djakow J et al.
Pediatric Pulmonology, 2012
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
Failly M et al.
Journal of Medical Genetics, 2009
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N et al.
American Journal of Respiratory and Critical Care Medicine, 2006
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
Olbrich H et al.
Nature Genetics, 2002