| scholarly article | Q13442814 |
| review article | Q7318358 |
| P50 | author | Alessandro Pecci | Q56750104 |
| Anna Savoia | Q42550945 | ||
| P2093 | author name string | Carlo L Balduini | |
| P2860 | cites work | Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents. | Q51828942 |
| MYH9-Related Disease | Q56531470 | ||
| MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype | Q57589452 | ||
| Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome) | Q57589515 | ||
| MYH9-related disease: Report on five German families and description of a novel mutation | Q57943440 | ||
| Altered cytoskeleton organization in platelets from patients with MYH9-related disease | Q24301322 | ||
| Mutations in human nonmuscle myosin IIA found in patients with May-Hegglin anomaly and Fechtner syndrome result in impaired enzymatic function | Q24306891 | ||
| Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9 | Q24534496 | ||
| Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants | Q28215517 | ||
| Defects in cell adhesion and the visceral endoderm following ablation of nonmuscle myosin heavy chain II-A in mice | Q28511656 | ||
| Targeted disruption of mouse ortholog of the human MYH9 responsible for macrothrombocytopenia with different organ involvement: hematological, nephrological, and otological studies of heterozygous KO mice | Q28590788 | ||
| Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains | Q28592819 | ||
| Myosin IIA associates with NK cell lytic granules to enable their interaction with F-actin and function at the immunological synapse | Q30493556 | ||
| The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. | Q33331942 | ||
| Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium | Q33333965 | ||
| Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. | Q33333969 | ||
| Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). | Q33335770 | ||
| Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. | Q33339198 | ||
| Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders | Q33341716 | ||
| Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene | Q33341848 | ||
| Cloning of the murine non-muscle myosin heavy chain IIA gene ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes | Q33341898 | ||
| Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome | Q33347101 | ||
| First description of somatic mosaicism in MYH9 disorders | Q33364644 | ||
| Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation | Q33365223 | ||
| Genotype-phenotype correlation in MYH9-related thrombocytopenia | Q33367809 | ||
| Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations | Q33368433 | ||
| Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families | Q33371763 | ||
| Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations | Q33373973 | ||
| The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway | Q33374705 | ||
| Megakaryocyte-restricted MYH9 inactivation dramatically affects hemostasis while preserving platelet aggregation and secretion. | Q33376049 | ||
| Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease | Q33377670 | ||
| Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). | Q33379734 | ||
| Coronary Thrombosis in a Patient with May-Hegglin Anomaly | Q33379765 | ||
| Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation. | Q33381908 | ||
| Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines | Q33382216 | ||
| Identification of three in-frame deletion mutations in MYH9 disorders suggesting an important hot spot for small rearrangements in MYH9 exon 24. | Q33384610 | ||
| Safety of the thrombopoiesis-stimulating agents for the treatment of immune thrombocytopenia | Q33385046 | ||
| Management of bleeding and of invasive procedures in patients with platelet disorders and/or thrombocytopenia: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET). | Q33385523 | ||
| Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. | Q33386154 | ||
| The risk of spinal haematoma following neuraxial anaesthesia or lumbar puncture in thrombocytopenic individuals | Q33386354 | ||
| Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. | Q33388338 | ||
| Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease | Q33388450 | ||
| Platelet formation | Q33390619 | ||
| Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations | Q33391889 | ||
| Renal manifestations of patients with MYH9-related disorders | Q33393528 | ||
| Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions | Q33396285 | ||
| May-Hegglin anomaly: a defect in megakaryocyte fragmentation? | Q33467026 | ||
| Hereditary macrothrombocytopathia, nephritis and deafness | Q33468115 | ||
| Fechtner syndrome: report of a third family and literature review | Q33493378 | ||
| Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings. | Q33502379 | ||
| Functional compensation of the low platelet count by increased individual platelet size in a patient with May-Hegglin anomaly presenting with acute myocardial infarction | Q33503196 | ||
| Myosins: a diverse superfamily | Q33866577 | ||
| TRPM7 regulates myosin IIA filament stability and protein localization by heavy chain phosphorylation | Q35971600 | ||
| Testing for chronic kidney disease: a position statement from the National Kidney Foundation | Q36894958 | ||
| Human platelet myosin. II. In vitro assembly and structure of myosin filaments | Q40343376 | ||
| Localization in stereocilia, plasma membrane, and mitochondria suggests diverse roles for NMHC-IIa within cochlear hair cells | Q42576575 | ||
| Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly | Q45038566 | ||
| Cloning and developmental expression of nonmuscle myosin IIA (Myh9) in the mammalian inner ear. | Q46410215 | ||
| Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene | Q46635884 | ||
| Replacement of nonmuscle myosin II-B with II-A rescues brain but not cardiac defects in mice. | Q48159739 | ||
| Cochlear implants for DFNA17 deafness. | Q50460267 | ||
| Expression of Myh9 in the mammalian cochlea: localization within the stereocilia. | Q50463098 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | thrombocytopenia | Q585285 |
| P304 | page(s) | 161-174 | |
| P577 | publication date | 2011-05-04 | |
| P1433 | published in | British Journal of Haematology | Q4970200 |
| P1476 | title | Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias | |
| P478 | volume | 154 |
| Q50317102 | A Japanese pedigree with a p.A95V mutation in the MYH9 gene demonstrates inherited macrothrombocytopenia without Alport manifestations. |
| Q33415349 | A blood film that could have averted a splenectomy |
| Q92048542 | A case report of optic neuropathy following dacryocystorhinostomy in a 57-year-old female patient with May-Hegglin anomaly |
| Q34994891 | A critical role of the Thy28-MYH9 axis in B cell-specific expression of the Pax5 gene in chicken B cells |
| Q45779870 | A new feature of the MYH9-related syndrome: chronic transaminase elevation |
| Q47382489 | A novel MYH9 mutation in a patient with MYH9 disorders and platelet size-specific effect of romiplostim on macrothrombocytopenia |
| Q92913732 | A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature |
| Q24319165 | ACTN1 mutations cause congenital macrothrombocytopenia |
| Q33401062 | Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. |
| Q89207822 | Anesthetic management without perioperative platelet transfusion for cervical laminectomy and laminoplasty in a case of May-Hegglin anomaly |
| Q33442532 | Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias |
| Q33404660 | Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease |
| Q33416191 | Cochlear implantation is safe and effective in patients with MYH9-related disease |
| Q33432986 | Congenital macrothrombocytopenia is a heterogeneous disorder in India |
| Q33411778 | Congenital platelet disorders and understanding of platelet function |
| Q47579431 | Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia |
| Q33422383 | Diagnosis and treatment of inherited thrombocytopenias. |
| Q89804990 | Diagnosis of Inherited Platelet Disorders on a Blood Smear |
| Q33441497 | Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. |
| Q33401595 | Does size matter in platelet production? |
| Q33441794 | Epidural anesthesia for labor and delivery in a patient with May-Hegglin anomaly: a case report |
| Q31127014 | Establishment of mouse model of MYH9 disorders: heterozygous R702C mutation provokes macrothrombocytopenia with leukocyte inclusion bodies, renal glomerulosclerosis and hearing disability |
| Q49333515 | Further classification of neutrophil non-muscle myosin heavy chain-IIA localization for efficient genetic diagnosis of MYH9 disorders. |
| Q33402780 | Genetics of familial forms of thrombocytopenia |
| Q26830918 | Immune thrombocytopenia |
| Q33417741 | Immune thrombocytopenia: epidemiological and clinical features of 216 patients in northwestern Turkey |
| Q33439366 | Inherited Thrombocytopenia with a Different Type of Gene Mutation: A Brief Literature Review and Two Case Studies |
| Q91644908 | Inherited Thrombocytopenia: Update on Genes and Genetic Variants Which may be Associated With Bleeding |
| Q90754316 | Inherited platelet disorders : Management of the bleeding risk |
| Q33406532 | Inherited thrombocytopenias frequently diagnosed in adults |
| Q42940560 | Inherited thrombocytopenias in the era of personalized medicine. |
| Q33432109 | Inherited thrombocytopenias-recent advances in clinical and molecular aspects |
| Q59384150 | Insights in Megakaryopoiesis and Platelet Biogenesis from Studies of Inherited Thrombocytopenias |
| Q33413048 | Lessons in platelet production from inherited thrombocytopenias |
| Q33852054 | Life without double-headed non-muscle myosin II motor proteins |
| Q26770863 | Linkage between the mechanisms of thrombocytopenia and thrombopoiesis |
| Q52884676 | MYH9 gene mutations associated with bleeding. |
| Q47245529 | MYH9-macrothrombocytopenia caused by a novel variant (E1421K) initially presenting as apparent neonatal alloimmune thrombocytopenia. |
| Q33411280 | MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. |
| Q33414028 | MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations |
| Q33404204 | MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations |
| Q50352928 | MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature. |
| Q38879947 | Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease |
| Q33422658 | Molecular basis of inherited thrombocytopenias |
| Q33397121 | Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A. |
| Q33960799 | Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders |
| Q30840174 | Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia |
| Q61805335 | Myosin Heavy Chain 9: Oncogene or Tumor Suppressor Gene? |
| Q50037115 | Myosin IIa signal von Willebrand factor release. |
| Q33423143 | Myosin heavy chain-9-related disorders (MYH9-RD): a case report |
| Q33418701 | Myosin-II repression favors pre/proplatelets but shear activation generates platelets and fails in macrothrombocytopenia |
| Q38037315 | Myosinopathies: pathology and mechanisms |
| Q99557388 | Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures |
| Q90341718 | Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants |
| Q26778962 | Non-muscle myosin II in disease: mechanisms and therapeutic opportunities |
| Q33411102 | Nonmuscle myosin heavy chain IIA is a critical factor contributing to the efficiency of early infection of severe fever with thrombocytopenia syndrome virus |
| Q33407443 | Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists |
| Q37089075 | Perinatal Management for a Pregnant Woman with an MYH9 Disorder |
| Q33407292 | Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study |
| Q42423815 | Post-translational arginylation as a novel regulator of platelet function |
| Q33426526 | 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 |
| Q33415697 | R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. |
| Q90750202 | Rare inherited kidney diseases: an evolving field in Nephrology |
| Q93052469 | Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation |
| Q64244340 | Rho-Family Small GTPases: From Highly Polarized Sensory Neurons to Cancer Cells |
| Q30844127 | Role for formin-like 1-dependent acto-myosin assembly in lipid droplet dynamics and lipid storage. |
| Q30364931 | Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients |
| Q50425905 | Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents. |
| Q33430058 | Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan |
| Q38220681 | Spectrum of the mutations in Bernard-Soulier syndrome |
| Q33414128 | Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: first report in Korea |
| Q41487980 | The Centenary of Immune Thrombocytopenia-Part 2: Revising Diagnostic and Therapeutic Approach |
| Q33411165 | The abnormal proplatelet formation in MYH9-related macrothrombocytopenia results from an increased actomyosin contractility and is rescued by myosin IIA inhibition. |
| Q33400733 | The case ∣ proteinuria and low platelet count |
| Q26740409 | The contribution of mouse models to the understanding of constitutional thrombocytopenia |
| Q50353854 | The first two cases of MYH9 disorders in Thailand: an international collaborative study. |
| Q33414744 | Thrombocytopenia: an update |
| Q33396732 | Thrombotic events in MYH9 gene-related autosomal macrothrombocytopenias (old May-Hegglin, Sebastian, Fechtner and Epstein syndromes). |
| Q33414751 | Update on the causes of platelet disorders and functional consequences. |
| Q38183490 | What is the role of genetic testing in the investigation of patients with suspected platelet function disorders? |
| Q36529502 | inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations |
Search more.