Associated Papers
The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.
Goto S et al.
Genes, 2026
Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.
Obrisca R et al.
Children (basel, Switzerland), 2025
Bariatric Surgery for a Patient With Myosin Heavy Chain 9-Related Disorders (MYH9RD): A Case Report.
Kim SH et al.
Journal of Metabolic and Bariatric Surgery, 2025
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic.
Cai L et al.
Heliyon, 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
Diagnostic delay of MYH9-related disorder in Japan.
Sakamoto A et al.
British Journal of Haematology, 2024
A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia.
Ikawa Y et al.
Clinical Case Reports, 2024
A nationwide survey of MYH9-related disease in Japan.
Shirai Y et al.
Clinical and Experimental Nephrology, 2024
[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Gao GY et al.
Zhonghua Yi Xue Za Zhi, 2023
A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Safiullina SI et al.
Scientific Reports, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura.
Yilmaz Keskin E et al.
Journal of Pediatric Hematology/oncology, 2021
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
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report.
Cenni C et al.
Diagnostics (basel, Switzerland), 2021
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.
Zhang L et al.
Journal of Clinical Laboratory Analysis, 2021
Myosin Heavy Chain 9 (MYH9)-Related Congenital Macrothrombocytopenia.
Thurlapati A et al.
Cureus, 2021
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 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
Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.
Li B et al.
Journal of Ophthalmology, 2020
MYH9-related disorders display heterogeneous kidney involvement and outcome.
Tabibzadeh N et al.
Clinical Kidney Journal, 2019
MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane.
Smith AS et al.
American Journal of Hematology, 2019
Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis.
Saes JL et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2019
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
De novo MYH9 mutation in congenital scalp hemangioma.
Fomchenko EI et al.
Cold Spring Harbor Molecular Case Studies, 2018
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
Pecci A et al.
Gene, 2018
Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders.
Hao J et al.
Annals of Hematology, 2018
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe E et al.
British Journal of Haematology, 2017
Genotype-phenotype Correlation of the p.R1165C Mutation in the MYH9 Disorder: Report of a Japanese Pedigree.
Okano S et al.
Journal of Pediatric Hematology/oncology, 2015
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Westbury SK et al.
Genome Medicine, 2015
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.
Sánchez-Guiu I et al.
Orphanet Journal of Rare Diseases, 2014
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
Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.
Necchi V et al.
Thrombosis and Haemostasis, 2013
A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice.
Tuzovic L et al.
Rare Diseases (austin, Tex.), 2013
MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.
Economou M et al.
Journal of Pediatric Hematology/oncology, 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
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Pecci A et al.
Plos One, 2012
Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes).
Girolami A et al.
Journal of Thrombosis and Thrombolysis, 2011
Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.
Balduini CL et al.
British Journal of Haematology, 2011