Associated Papers
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 › HGMD
Diagnostic delay of MYH9-related disorder in Japan.
Sakamoto A et al.
British Journal of Haematology, 2024
A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Safiullina SI et al.
Scientific Reports, 2022
36404341 (PubMed )
Supplement: 41598_2022_24098_MOESM1_ESM.pdf
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
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
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
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
Pecci A et al.
Human Molecular Genetics, 2005
Genotype-phenotype correlation in MYH9-related thrombocytopenia.
Dong F et al.
British Journal of Haematology, 2005
Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.
Franke JD et al.
Blood, 2005
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
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome).
Kunishima S et al.
Blood, 2001
Select a paper to view details