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
De Novo MYH9-Related Macrothrombocytopenia in a Toddler: Insights From Platelet Mass Index.
Kyriakidis I et al.
British Journal of Hospital Medicine (london, England : 2005), 2026
Clinical and Molecular Spectrum of MYH9-Thrombocytopenia: Insights from a Single Centric Pediatric Cohort.
Obrisca R et al.
Children (basel, Switzerland), 2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
Natural history of the severe subtype of MYH9-related disease (Epstein syndrome).
Shinno K et al.
European Journal of Internal Medicine, 2025
MYH9-related disease with a normal platelet count.
Nakatani R et al.
Cen Case Reports, 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
Unraveling MYH9-related disease: A case study on misdiagnosis with idiopathic thrombocytopenic purpura, confirmed through genetic.
Cai L et al.
Heliyon, 2024
Successful hematopoietic stem cell transplantation in MYH9-related congenital thrombocytopenia.
Miśkiewicz-Bujna J et al.
Pediatric Blood & Cancer, 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
The role of genomic disorders in chronic kidney failure of undetermined aetiology ≤50 years.
Granhøj J et al.
Clinical Kidney Journal, 2024
Diagnostic delay of MYH9-related disorder in Japan.
Sakamoto A et al.
British Journal of Haematology, 2024
Idiopathic collapsing glomerulopathy is associated with APOL1 high-risk genotypes or Mendelian variants in most affected individuals in a highly admixed population.
Neves PD et al.
Kidney International, 2024
A Case of Myosin Heavy Chain 9-Related Disorder Following Splenectomy Due to Misdiagnosis of Idiopathic Thrombocytopenic Purpura.
Arslan Davulcu E et al.
Cureus, 2024
A nationwide survey of MYH9-related disease in Japan.
Shirai Y et al.
Clinical and Experimental Nephrology, 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
Case Report: MYH9-related disease caused by Ala44Pro mutation in a child with a previous diagnosis of chronic immune thrombocytopenia.
Niwa K et al.
Frontiers in Pediatrics, 2024
[Analysis of clinical phenotype and gene mutation characteristics of MYH9-related disorder].
Gao GY et al.
Zhonghua Yi Xue Za Zhi, 2023
Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia
Bülbül MC et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2023
Umbilical cord blood transplantation for MYH9-related disorders.
Li J et al.
Pediatric Blood & Cancer, 2022
The surgical management of a patient with chronic renal failure and macrothrombocytopenia related to the MYH9 gene mutation: A case report.
Costa RF et al.
Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry, 2022
Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.
Gilad O et al.
Haematologica, 2022
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
"MYH9 mutation and squamous cell cancer of the tongue in a young adult: a novel case report".
Yabe TE et al.
Diagnostic Pathology, 2022
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
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
[MYH9 related disease with thrombocytopenia: a case report and literature review].
Zhou H et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 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
Rare inherited kidney diseases: an evolving field in Nephrology.
Cunha MFMD et al.
Jornal Brasileiro De Nefrologia, 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
Management of patients with severe Epstein syndrome: Review of four patients who received living-donor renal transplantation.
Hashimoto J et al.
Nephrology (carlton, Vic.), 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
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
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L et al.
British Journal of Haematology, 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