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Lista de obras de Alessandro Pecci

5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia

artículo científico publicado en 2017

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis

artículo científico publicado en 2011

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

artículo científico publicado en 2010

A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.

artículo científico publicado en 2017

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

artículo científico publicado en 2014

ANKRD26-related thrombocytopenia and myeloid malignancies

artículo científico publicado en 2013

Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.

artículo científico publicado en 2012

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia

artículo científico publicado en 2014

Apoptosis in Relation to CD34 Antigen Expression in Normal and Myelodysplastic Bone Marrow

Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule

Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

artículo científico publicado en 2006

Bleeding risk of surgery and its prevention in patients with inherited platelet disorders

artículo científico publicado en 2017

Cell cycle distribution of cord blood-derived haematopoietic progenitor cells and their recruitment into the S-phase of the cell cycle

artículo científico publicado en 2000

Chaperone molecules concentrate together with the ubiquitin-proteasome system inside particulate cytoplasmic structures: possible role in metabolism of misfolded proteins

artículo científico publicado en 2015

Circulating CD34+, CD133+, and Vascular Endothelial Growth Factor Receptor 2–Positive Endothelial Progenitor Cells in Myelofibrosis With Myeloid Metaplasia

Clinical and biological effects of treatment with amifostine in myelodysplastic syndromes

artículo científico publicado en 2002

Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

artículo científico publicado en 2010

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

artículo científico publicado en 2011

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients

artículo científico publicado en 2008

Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia

artículo científico publicado en 2016

Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type

artículo científico publicado en 2012

Cochlear implantation is safe and effective in patients with MYH9-related disease

artículo científico publicado en 2014

Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

artículo científico publicado en 2012

Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains

scientific journal article

Cutaneous involvement by post-polycythemia vera myelofibrosis

artículo científico publicado en 2013

Desmopressin and super platelets

scientific article published on 01 March 2014

Diagnosis and management of inherited thrombocytopenias

artículo científico publicado en 2013

Diagnosis and treatment of inherited thrombocytopenias.

artículo científico publicado en 2015

Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.

artículo científico publicado en 2017

Diagnostic and clinical relevance of the number of circulating CD34+ cells in myelofibrosis with myeloid metaplasia

Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

artículo científico publicado en 2010

Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia

scientific article published on 08 May 2019

Endothelial colony-forming cells from patients with chronic myeloproliferative disorders lack the disease-specific molecular clonality marker

scientific article published on 23 July 2009

Ex 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.

artículo científico publicado en 2015

Expression of p53, Bcl-2 and Ras Oncoproteins and Apoptosis Levels in Acute Leukaemias and Myelodysplastic Syndromes

artículo científico publicado el 1 de julio de 2001

Expression, activation, and subcellular localization of the Rap1 GTPase in cord blood-derived human megakaryocytes

artículo científico publicado en 2004

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

artículo científico publicado en 2015

Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

artículo científico publicado en 2010

Hereditary thrombocytopenias: a growing list of disorders

artículo científico publicado en 2017

Identification of the first duplication in MYH9-related disease: a hot spot for unequal crossing-over within exon 24 of the MYH9 gene

artículo científico publicado en 2009

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

artículo científico publicado en 2002

Increased circulating hematopoietic and endothelial progenitor cells in the early phase of acute myocardial infarction

scientific article published on 02 September 2004

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

artículo científico publicado en 2017

Inherited thrombocytopenias-recent advances in clinical and molecular aspects

artículo científico publicado en 2016

Inherited thrombocytopenias: the evolving spectrum.

artículo científico publicado en 2012

Lessons in platelet production from inherited thrombocytopenias

artículo científico publicado en 2014

Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia

scientific article published on 27 December 2018

Low-dose thalidomide ameliorates cytopenias and splenomegaly in myelofibrosis with myeloid metaplasia: a phase II trial.

artículo científico publicado en 2004

MYH9 gene mutations associated with bleeding

artículo científico publicado en 2017

MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene

artículo científico publicado en 2009

MYH9-related disease mutations cause abnormal red blood cell morphology through increased myosin-actin binding at the membrane

artículo científico publicado en 2019

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

artículo científico publicado en 2003

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

artículo científico publicado en 2013

MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations

artículo científico publicado en 2012

MYH9-related disorders: report on a patient of Greek origin presenting with macroscopic hematuria and presenile cataract, caused by an R1165C mutation.

artículo científico publicado en 2012

MYH9related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype

Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation

artículo científico publicado en 2009

Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome

artículo científico publicado en 2015

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

artículo científico publicado en 2011

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

artículo científico publicado en 2011

Mutations of RUNX1 in families with inherited thrombocytopenia.

artículo científico publicado en 2017

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

artículo científico publicado en 2013

Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells

artículo científico publicado en 2011

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

artículo científico publicado en 2015

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

artículo científico publicado en 2015

Pathogenesis and management of inherited thrombocytopenias: rationale for the use of thrombopoietin-receptor agonists

artículo científico publicado el 1 de mayo de 2013

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations

artículo científico publicado en 2005

Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia

artículo científico publicado en 2006

Phosphorylation of the myosin IIA tailpiece regulates single myosin IIA molecule association with lytic granules to promote NK-cell cytotoxicity

artículo científico publicado en 2011

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders

artículo científico publicado en 2014

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

artículo científico publicado en 2009

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

artículo científico publicado en 2013

Platelets from glioblastoma patients promote angiogenesis of tumor endothelial cells and exhibit increased VEGF content and release

artículo científico publicado en 2016

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

artículo científico publicado en 2008

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

artículo científico publicado en 2008

R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17.

artículo científico publicado en 2014

Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias

artículo científico publicado en 2011

Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).

artículo científico publicado en 2008

Revealing eltrombopag's promotion of human megakaryopoiesis through AKT/ERK-dependent pathway activation

artículo científico publicado en 2016

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients

artículo científico publicado en 2016

Spectrum of the mutations in Bernard-Soulier syndrome

artículo científico publicado en 2014

Spleen neoangiogenesis in patients with myelofibrosis with myeloid metaplasia

artículo científico publicado en 2004

The case ∣ proteinuria and low platelet count

artículo científico publicado en 2012

The expression of CXCR4 is down-regulated on the CD34+ cells of patients with myelofibrosis with myeloid metaplasia

artículo científico publicado en 2007

The irreversibility of platelet aggregation is regulated by myosin IIA, but is not compromised in MYH9-related disease

Thrombopoietin is not uniquely responsible for thrombocytosis in inflammatory disorders

artículo científico publicado en 2007

Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim

artículo científico publicado en 2017

Ubiquitin/proteasome-rich particulate cytoplasmic structures (PaCSs) in the platelets and megakaryocytes of ANKRD26-related thrombo-cytopenia

artículo científico publicado en 2012

Unexplained recurrent venous thrombosis in a patient withMYH9-related disease

scholarly article by Paula G. Heller et al published January 2006 in Platelets

Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC

artículo científico publicado en 2019

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia

artículo científico publicado en 2015