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SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopeniaCorrelation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chainsSevere to profound deafness may be associated with MYH9-related disease: report of 4 patientsEx vivo immunosuppressive effects of mesenchymal stem cells on Crohn's disease mucosal T cells are largely dependent on indoleamine 2,3-dioxygenase activity and cell-cell contact.Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders.MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.Low-dose thalidomide ameliorates cytopenias and splenomegaly in myelofibrosis with myeloid metaplasia: a phase II trial.Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.The expression of CXCR4 is down-regulated on the CD34+ cells of patients with myelofibrosis with myeloid metaplasia.Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation.Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect.Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicityThe case ∣ proteinuria and low platelet count.Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.Inherited thrombocytopenias: the evolving spectrum.Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiencyMYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlationsUbiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia.Diagnosis and management of inherited thrombocytopenias.Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life studyPathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists.MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics.Lessons in platelet production from inherited thrombocytopenias.Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Alessandro Pecci
@ast
Alessandro Pecci
@en
Alessandro Pecci
@es
Alessandro Pecci
@nl
type
label
Alessandro Pecci
@ast
Alessandro Pecci
@en
Alessandro Pecci
@es
Alessandro Pecci
@nl
prefLabel
Alessandro Pecci
@ast
Alessandro Pecci
@en
Alessandro Pecci
@es
Alessandro Pecci
@nl
P1053
E-9288-2012
P106
P1153
7004634370
P21
P31
P3829
P496
0000-0001-9202-7013