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
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
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 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Natesirinilkul R et al.
Pediatric Blood & Cancer, 2021
Identification of a Novel MYH9 Mutation in a Young Adult With Inherited Thrombocytopenia and Recurrent Seizures by Targeted Exome Sequencing.
Yang EJ et al.
Journal of Pediatric Hematology/oncology, 2020
Genetic classification and confirmation of inherited platelet disorders: current status in Korea.
Shim YJ
Clinical and Experimental Pediatrics, 2020
A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature.
Ai Q et al.
Medicine, 2020
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.
Saposnik B et al.
Molecular Genetics & Genomic Medicine, 2014
Cochlear implantation is safe and effective in patients with MYH9-related disease.
Pecci A et al.
Orphanet Journal of Rare Diseases, 2014
Beware of hidden trains: simultaneous discovery of a MYH9-related disease and chronic lymphocytic leukaemia.
Chaquin M et al.
British Journal of Haematology, 2014
Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.
Sun XH et al.
Acta Haematologica, 2013
[Clinical features and gene analyses of six patients with MYH9-related disease].
Sun XH et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012
A Trp33Arg mutation at exon 1 of the MYH9 gene in a Korean patient with May-Hegglin anomaly.
Jang MJ et al.
Yonsei Medical Journal, 2012