Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.
Tandukar B et al.
Nature Communications, 2025
Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.
Tandukar B et al.
Biorxiv : the Preprint Server for Biology, 2024
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
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
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
Familial macro thrombocytopenia: role of genetics where morphology fails.
Chaudhary H et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2020
Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.
Asensio-Juárez G et al.
Cells, 2020
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
Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation.
Tanaka M et al.
Internal Medicine (tokyo, Japan), 2019
MYH9-related disorders display heterogeneous kidney involvement and outcome.
Tabibzadeh N et al.
Clinical Kidney Journal, 2019
A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia.
Johnson B et al.
Research and Practice in Thrombosis and Haemostasis, 2018
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
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
Renal manifestations of patients with MYH9-related disorders.
Han KH et al.
Pediatric Nephrology (berlin, Germany), 2011
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
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Pecci A et al.
Human Mutation, 2008
Description of a novel mutation leading to MYH9-related disease.
Burt RA et al.
Thrombosis Research, 2008
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