Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
MYH9-related inherited thrombocytopenia: the genetic spectrum, underlying mechanisms, clinical phenotypes, diagnosis, and management approaches.
Shen K et al.
Research and Practice in Thrombosis and Haemostasis, 2024
39309229 (PubMed )
Supplement: mmc3.xlsx › ClinVar
Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.
Casas-Mao D et al.
The Journal of Biological Chemistry, 2024
38042490 (PubMed )
Supplement: mmc1.docx
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients.
Canzi P et al.
Acta Otorhinolaryngologica Italica : Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico-facciale, 2016
Cochlear implantation is safe and effective in patients with MYH9-related disease.
Pecci A et al.
Orphanet Journal of Rare Diseases, 2014
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A et al.
Human Mutation, 2014
MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations.
De Rocco D et al.
European Journal of Medical Genetics, 2013
Select a paper to view details