Lista de obras - Valeria Bozzi - Dominio Público Uruguay

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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 receptor for advanced glycation end products in sarcoid granulomas.

artículo científico publicado en 2006

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

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

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

scientific article published on 27 December 2018

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

artículo científico publicado en 2009

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

scientific article published on 11 July 2018

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

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

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

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

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

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

artículo científico publicado en 2016

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

artículo científico publicado en 2008

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function

article

Lista de obras de Valeria Bozzi

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

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

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

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

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

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.

Expression of receptor for advanced glycation end products in sarcoid granulomas.

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

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

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

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

MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder

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

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

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

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

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

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

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

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

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

Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function