Associated Papers
Clinical and Genetic Characterization of 269 Patients With Suspected Inherited Platelet Disorders: The Padua Monocentric Experience.
Ferrari S et al.
International Journal of Laboratory Hematology, 2026
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
Clinical and genetic characteristics of 40 patients with nonmuscle myosin heavy chain 9-related disease (MYH9-RD) misdiagnosed as immune thrombocytopenia: a retrospective analysis in China.
Arif AR et al.
Journal of Thrombosis and Haemostasis : Jth, 2025
myh9b is a critical non-muscle myosin II encoding gene that interacts with myh9a and myh10 during zebrafish development in both compensatory and redundant pathways.
Rolfs LA et al.
G3 (bethesda, Md.), 2025
Human congenital cataract mutation in MYH9 alters F-actin organization and cell functions.
Yuan H et al.
International Journal of Ophthalmology, 2025
Pregnancy in May-Hegglin Anomaly: Diagnostic Challenges and Management Considerations.
Mastanzade M et al.
Case Reports in Hematology, 2025
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
MYH9-Related Disorder (MYH9-RD): An Under-Recognized Family of Giants Among the Inherited Thrombocytopenias.
Khor ZX et al.
Cureus, 2024
Unveiling the hidden clues: Döhle body-like inclusions as morphological markers for MYH9-related disorders: A case report.
Zhang Y et al.
Medicine, 2023
[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Gao GY et al.
Zhonghua Yi Xue Za Zhi, 2023
Proteomic landscapes of inherited platelet disorders with different etiologies.
Kreft IC et al.
Journal of Thrombosis and Haemostasis : Jth, 2023
A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities.
Safiullina SI et al.
Scientific Reports, 2022
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 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
[Gene analysis and clinical features of MYH9-related disease].
Luo XJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia.
Natesirinilkul R et al.
Pediatric Blood & Cancer, 2021
A De Novo Mutation in MYH9 in a Child With Severe and Prolonged Macrothrombocytopenia.
Li K et al.
Journal of Pediatric Hematology/oncology, 2021
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy.
Ren P et al.
Frontiers in Genetics, 2021
Whole exome sequencing for diagnosis of hereditary thrombocytopenia.
Mekchay P et al.
Medicine, 2020
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
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
Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
Najafi A et al.
Clinical Genetics, 2020
Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.
Bury L et al.
Human Mutation, 2020
The role of an accurate diagnosis of inherited thrombocytopenia as the basis for an effective treatment. A case of MYH9 syndrome treated with a TPO-RA.
Porrazzo M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 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
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
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.
Bastida JM et al.
Haematologica, 2018
Thrombocytopenia and CD34 expression is decoupled from α-granule deficiency with mutation of the first growth factor-independent 1B zinc finger.
Rabbolini DJ et al.
Journal of Thrombosis and Haemostasis : Jth, 2017
Congenital macrothrombocytopenia is a heterogeneous disorder in India.
Ali S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2016
Preoperative use of platelets in a 6-year-old with acute appendicitis and a myosin heavy chain 9-related disorder: a case report and review of literature.
Eichel Y et al.
Transfusion, 2016
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
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
R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura.
Sung CC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2014
Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.
Pecci A
International Journal of Hematology, 2013
Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.
Sun XH et al.
Acta Haematologica, 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
[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