Serena Barozzi

Pavia, Italy

Last Updated: 09/26/2026

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Found 27 publications

CHARACTERIZATION OF A SERIES OF PATIENTS WITH GNE-RELATED THROMBOCYTOPENIA: INSIGHTS INTO PATHOGENESIS, DIAGNOSIS, AND TREATMENT.

CHARACTERIZATION OF A SERIES OF PATIENTS WITH GNE-RELATED THROMBOCYTOPENIA: INSIGHTS INTO PATHOGENESIS, DIAGNOSIS, AND TREATMENT.

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 23, 2026

A polygenic etiology for inherited thrombocytopenias of unknown origin.

A polygenic etiology for inherited thrombocytopenias of unknown origin.

Journal: HemaSphere

Published: March 06, 2026

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations.

Journal: Haematologica

Published: December 23, 2024

Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis.

Journal: British journal of haematology

Published: July 23, 2024

Isolated thrombocytopenia in pregnancy: A monocentric retrospective study of 63 pregnancies in 59 women.

Isolated thrombocytopenia in pregnancy: A monocentric retrospective study of 63 pregnancies in 59 women.

Journal: EJHaem

Published: May 10, 2024

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.

Journal: British journal of haematology

Published: January 19, 2024

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

ACTN1-related thrombocytopenia: Homozygosity for an ACTN1 variant results in a more severe phenotype.

Journal: British journal of haematology

Published: November 13, 2023

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.

Journal: Annals of hematology

Published: October 21, 2022

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.

Journal: Haematologica

Published: March 04, 2022

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.

Journal: International journal of molecular sciences

Published: August 19, 2021

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.

Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC.

Journal: Haematologica

Published: September 10, 2020

Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia.

Spontaneous splenic rupture due to extramedullary haematopoiesis in a patient with inherited thrombocytopenia.

Journal: Blood transfusion = Trasfusione del sangue

Published: July 22, 2020

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Last Updated: 09/26/2026