List of works - Loredana Bury

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

scientific article published on 15 April 2016

A novel congenital dysprothrombinemia leading to defective prothrombin maturation

scientific article published on 08 September 2014

A novel mechanism regulating human platelet activation by MMP-2-mediated PAR1 biased signaling

scientific article

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

scientific article published on 8 February 2018

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

scientific article

Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders

scientific article published on 21 April 2015

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

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

scientific article published on 6 April 2017

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

scientific article published on 09 June 2019

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

scientific article

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.

scientific article published on 25 July 2014

First Diagnosis of Hemophilia B in a Nonagenarian.

scientific article

Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?

scientific article published on 27 July 2017

Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation.

scientific article published on 10 March 2016

Inherited platelet disorders in women

scientific article published on 01 September 2019

Interaction with damaged vessel wall in vivo in humans induces platelets to express CD40L resulting in endothelial activation with no effect of aspirin intake

scientific article published on 04 March 2011

Laboratory diagnosis of clinically relevant platelet function disorders

scientific article published on 01 May 2018

Maraviroc Intensification Modulates Atherosclerotic Progression in HIV-Suppressed Patients at High Cardiovascular Risk. A Randomized, Crossover Pilot Study

article

Mechanisms of thrombocytopenia in platelet-type von Willebrand disease

scientific article published on 17 January 2019

Megakaryocytes differentially sort mRNAs for matrix metalloproteinases and their inhibitors into platelets: a mechanism for regulating synthetic events.

scientific article

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

scientific article published on 15 October 2019

Of mice and men: genes relevant to thrombosis and bleeding

scientific article published on 01 December 2018

Outside-In Signalling Generated by a Constitutively Activated Integrin αIIbβ3 Impairs Proplatelet Formation in Human Megakaryocytes ⬇️

scientific article published on April 23, 2012

Platelet function assays in diagnosis: an update

scientific article published on 16 January 2019

Possible incorrect genotyping of heterozygous factor V Leiden and Prothrombin 20210 gene mutations by the GeneXpert assay

article

Prochemerin cleavage by factor XIa links coagulation and inflammation

scientific article published on 20 November 2017

Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression

scientific article published on 12 July 2016

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

scientific article published on 16 December 2019

t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia

scientific article published on 04 July 2008

List of works by Loredana Bury

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

A novel congenital dysprothrombinemia leading to defective prothrombin maturation

A novel mechanism regulating human platelet activation by MMP-2-mediated PAR1 biased signaling

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

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

Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders

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

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

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia

Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.

First Diagnosis of Hemophilia B in a Nonagenarian.

Increase of von Willebrand factor with aging in type 1 von Willebrand disease: fact or fiction?

Inherited Platelet Function Disorders: Algorithms for Phenotypic and Genetic Investigation.

Inherited platelet disorders in women

Interaction with damaged vessel wall in vivo in humans induces platelets to express CD40L resulting in endothelial activation with no effect of aspirin intake

Laboratory diagnosis of clinically relevant platelet function disorders

Maraviroc Intensification Modulates Atherosclerotic Progression in HIV-Suppressed Patients at High Cardiovascular Risk. A Randomized, Crossover Pilot Study

Mechanisms of thrombocytopenia in platelet-type von Willebrand disease

Megakaryocytes differentially sort mRNAs for matrix metalloproteinases and their inhibitors into platelets: a mechanism for regulating synthetic events.

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants

Of mice and men: genes relevant to thrombosis and bleeding

Outside-In Signalling Generated by a Constitutively Activated Integrin αIIbβ3 Impairs Proplatelet Formation in Human Megakaryocytes ⬇️

Platelet function assays in diagnosis: an update

Possible incorrect genotyping of heterozygous factor V Leiden and Prothrombin 20210 gene mutations by the GeneXpert assay

Prochemerin cleavage by factor XIa links coagulation and inflammation

Two novel ITGA2B mutations in a Glanzmann thrombasthaenia family associated with different platelet phenotypic expression

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

t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia