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
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 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
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L et al.
Human Mutation, 2020
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
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
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
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Savoia A et al.
Thrombosis and Haemostasis, 2010
MYH9-related platelet disorders.
Althaus K et al.
Seminars in Thrombosis and Hemostasis, 2009
Description of a novel mutation leading to MYH9-related disease.
Burt RA et al.
Thrombosis Research, 2008
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
Selleng K et al.
European Journal of Haematology, 2007
Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.
Kunishima S et al.
European Journal of Haematology, 2007
Genotype-phenotype correlation in MYH9-related thrombocytopenia.
Dong F et al.
British Journal of Haematology, 2005
Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders.
Pujol-Moix N et al.
Haematologica, 2004
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Deutsch S et al.
Blood, 2003
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M et al.
Medicine, 2003
Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9.
Mhatre AN et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2003
Macrothrombocytopenia and progressive deafness: a new genetic syndrome.
Brodie HA et al.
The American Journal of Otology, 1992
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.
Verver EJ et al.
Ear and Hearing, 0