Publications by authors named "Valeria Bozzi"

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Characterization of a novel mutation in a family with thrombocytopenia and other congenital malformations.
Daniele Ammeti, Serena Barozzi, Alessandro Pecci, Melania Eva Zanchetta, Edward Cesnik, Valeria Bozzi

Haematologica· November 2025

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Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.
Laureano J Kamiya, Serena Barozzi, Federica Isidori, Daiana Ganiewich, Geraldine De Luca, Valeria Bozzi

Br J Haematol· December 2024

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Isolated thrombocytopenia in pregnancy: A monocentric retrospective study of 63 pregnancies in 59 women.
Giulia Freddi, Enea Parimbelli, Federico Vai, Silvana Quaglini, Valeria Bozzi

EJHaem· December 2024

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Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Antonio Marzollo, Stefania Zampieri, Serena Barozzi, Muhammad Abrar Yousaf, Jade Quartararo, Valeria Bozzi

Br J Haematol· July 2024

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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Roberta Bottega, Valeria Bozzi

Haematologica· July 2023

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Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.
Vittorio Abbonante, Alessandro Malara, Martina Chrisam, Samuele Metti, Paolo Soprano, Valeria Bozzi

Autophagy· March 2023

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GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Valeria Bozzi

Haematologica· March 2022

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Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel germline mutation.
Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Valeria Bozzi

Haematologica· January 2022

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A Novel Mutation in Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
Serena Barozzi, Valeria Bozzi, Daniela De Rocco, Tania Giangregorio, Patrizia Noris

Int J Mol Sci· September 2021

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Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.
Serena Barozzi, Christian A Di Buduo, Caterina Marconi, Valeria Bozzi, Marco Seri

Haematologica· March 2021

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Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia.
Carlo Zaninetti, Serena Barozzi, Valeria Bozzi, Paolo Gresele, Carlo L Balduini

Am J Hematol· August 2019

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Loss-of-function mutations in cause a new form of inherited thrombocytopenia.
Caterina Marconi, Christian A Di Buduo, Kellie LeVine, Serena Barozzi, Michela Faleschini, Valeria Bozzi

Blood· March 2019

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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.
Carlo Zaninetti, Daniela De Rocco, Tania Giangregorio, Valeria Bozzi, Judit Demeter

Hamostaseologie· February 2019

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Thrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim.
Alessandro Pecci, Iman Ragab, Valeria Bozzi, Daniela De Rocco, Serena Barozzi

EMBO Mol Med· January 2018

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5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia.
Caterina Marconi, Ilaria Canobbio, Valeria Bozzi, Tommaso Pippucci, Giorgia Simonetti

J Hematol Oncol· January 2017

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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Federica Melazzini, Flavia Palombo, Alessandra Balduini, Daniela De Rocco, Caterina Marconi, Valeria Bozzi

Haematologica· November 2016

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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.
Rachele Ciccocioppo, Giuseppina C Cangemi, Peter Kruzliak, Alessandra Gallia, Elena Betti, Valeria Bozzi

Stem Cell Res Ther· July 2015

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Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
Patrizia Noris, Ginevra Biino, Alessandro Pecci, Elisa Civaschi, Anna Savoia, Valeria Bozzi

Blood· August 2014

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MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Alessandro Pecci, Catherine Klersy, Paolo Gresele, Kieran J D Lee, Daniela De Rocco, Valeria Bozzi

Hum Mutat· February 2014

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Alteration of liver enzymes is a feature of the MYH9-related disease syndrome.
Alessandro Pecci, Ginevra Biino, Tiziana Fierro, Valeria Bozzi, Annamaria Mezzasoma

PLoS One· September 2012

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Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells.
Alessandro Pecci, Valeria Bozzi, Emanuele Panza, Serena Barozzi, Cristian Gruppi

Thromb Haemost· October 2011

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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
Anna Savoia, Annalisa Pastore, Daniela De Rocco, Elisa Civaschi, Mariateresa Di Stazio, Valeria Bozzi

Haematologica· March 2011

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Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Tommaso Pippucci, Anna Savoia, Silverio Perrotta, Núria Pujol-Moix, Patrizia Noris, Valeria Bozzi

Am J Hum Genet· January 2011

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Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations.
Alessandro Pecci, Paolo Gresele, Catherine Klersy, Anna Savoia, Patrizia Noris, Valeria Bozzi

Blood· December 2010

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Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.
Anna Savoia, Daniela De Rocco, Emanuele Panza, Valeria Bozzi, Raffaella Scandellari

Thromb Haemost· April 2010

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