List of works - Valeria Bozzi

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

scientific article published on 18 January 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 9 February 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

scientific article published in December 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. ⬇️

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

scientific article

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

scientific article

Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano.

scientific article

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

scientific article

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

scientific article

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

article

List of works by 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