List of works - Patrizia Noris

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders

scientific article published on 16 April 2015

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

scientific article

ANKRD26-related thrombocytopenia and myeloid malignancies

scientific article published on 01 September 2013

Abdominal lymphographic pattern in connective tissue diseases is quite similar to that observed in lymphocytic lymphoma

scientific article published on 01 October 1989

Acquired cyclic thrombocytopenia-thrombocytosis with periodic defect of platelet function.

scientific article

Activation of the hemostatic process in patients with unruptured aortic aneurysm before and in the first week after surgical repair.

scientific article published in September 1997

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

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

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

scientific article

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

scientific article

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

scientific article

Cryopreservation of human platelets using dimethyl sulfoxide and glycerol-glucose: effects on "in vitro" platelet function

scientific article published on 01 March 1993

Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome

scientific article published on 01 December 1994

Defect of platelet aggregation and adhesion induced by autoantibodies against platelet glycoprotein IIIa

scientific article published on August 3, 1992

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

scientific article

Donor-recipient incompatibility at CD31-codon 563 is a major risk factor for acute graft-versus-host disease after allogeneic bone marrow transplantation from a human leucocyte antigen-matched donor

scientific article published on 01 September 2001

Effect of 52 monoclonal antibodies against platelet membrane on platelet aggregation and release reaction

scientific article published on 01 September 1990

Effect of anagrelide on platelet count and function in patients with thrombocytosis and myeloproliferative disorders.

scientific article

Effect of different sample preparation methods on the results of the impedance technique in the study of platelet hyper- and hypo-function in whole blood

scientific article published on 01 July 1993

Effect of endothelial cells on platelet aggregation in platelet rich plasma (PRP) and whole blood

scientific article published on 01 July 1990

Factors influencing post-transfusional platelet increment in pediatric patients given hematopoietic stem cell transplantation.

scientific article published in December 2001

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

article

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

scientific article

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

scientific article

Hemophagocytic syndrome responding to high-dose gammaglobulin as presenting feature of sarcoidosis

scientific article published on 01 January 1997

Heparin infusion facilitates ex vivo spontaneous platelet aggregation in patients with acute myocardial infarction who have undergone thrombolytic therapy

scientific article published on 01 July 1993

Heparin modifies platelet count and function in patients who have undergone thrombolytic therapy for acute myocardial infarction

scientific article published on 01 May 1993

In vitro and in vivo effects of desmopressin on platelet function.

scientific article published in October 1999

In vitro platelet aggregation defects in patients with myeloproliferative disorders and high platelet counts: are they laboratory artefacts?

scientific article published in March 2009

Incompatibility for CD31 and human platelet antigens and acute graft-versus-host disease after bone marrow transplantation

scientific article published on 01 September 1999

Inherited thrombocytopenias in the era of personalized medicine.

scientific article published on February 2015

Inherited thrombocytopenias.

scientific article

Inherited thrombocytopenias: the evolving spectrum.

scientific article

Innovation in the field of thrombocytopenias: achievements since the beginning of the century and promises for the future.

scientific article published in January 2016

Investigational drugs in thrombotic thrombocytopenic purpura.

scientific article

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

scientific article

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

scientific article

Max(a), a new low-frequency platelet-specific antigen localized on glycoprotein IIb, is associated with neonatal alloimmune thrombocytopenia.

scientific article

Mean platelet volume for distinguishing between inherited thrombocytopenias and immune thrombocytopenia--response to Beyan

scientific article published on 16 August 2013

Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro

scientific article published on 15 February 2011

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

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

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

scientific article published on 18 June 2015

Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia

scientific article published on 01 January 2006

Personalized reference intervals for platelet count reduce the number of subjects with unexplained thrombocytopenia.

scientific article published on 8 May 2015

Platelet aggregation in platelet-rich plasma and whole blood in 120 patients with myeloproliferative disorders

scientific article published on 01 January 1991

Platelet composition and function in patients undergoing cardiopulmonary bypass for heart surgery

scientific article published on 01 March 1996

Platelet count and aging.

scientific article published on June 2014

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

scientific article

Platelet function after in vivo and in vitro treatment with thrombolytic agents

scientific article published on 01 February 1992

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

scientific article

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

scientific article

Platelet-Independent defect in hemostasis associated with sirolimus use.

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

Qualitative and quantitative platelet defect with bleeding symptoms as presenting feature of non Hodgkin lymphomas.

scientific article

Reversal of thrombin-induced deactivation of CD39/ATPDase in endothelial cells by HMG-CoA reductase inhibition: effects on Rho-GTPase and adenosine nucleotide metabolism.

scientific article

Ristocetin-induced platelet agglutination stimulates GPIIb/IIIa-dependent calcium influx

scientific article published on 01 April 1995

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

scientific journal article

Safety and efficacy of low-dose fondaparinux (1.5 mg) for the prevention of venous thromboembolism in acutely ill medical patients with renal impairment: the FONDAIR study

scientific article published on 01 November 2012

Small red blood cells mimicking platelets.

scientific article published in June 2014

Spectrum of the mutations in Bernard-Soulier syndrome

scientific article

The effect of red cells on platelet aggregation: a study with the electronic whole blood aggregometer

scientific article published on 01 June 1988

Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

scientific article

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

scientific article

Thrombopoietin is not uniquely responsible for thrombocytosis in inflammatory disorders

scientific article published on 01 December 2007

Thrombopoietin levels in patients with primary and reactive thrombocytosis

scientific article published on 01 November 1997

Transfusion of platelet concentrates cryopreserved with ThromboSol plus low-dose dimethylsulphoxide in patients with severe thrombocytopenia: a pilot study.

scientific article

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

[Menometrorrhagia in adolescents: is it the first expression of congenital defects of hemostasis?]

scientific article published on 01 October 2001

von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets.

scientific article

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia

scientific article

List of works by Patrizia Noris

A review of platelet secretion assays for the diagnosis of inherited platelet secretion disorders

ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization

ANKRD26-related thrombocytopenia and myeloid malignancies

Abdominal lymphographic pattern in connective tissue diseases is quite similar to that observed in lymphocytic lymphoma

Acquired cyclic thrombocytopenia-thrombocytosis with periodic defect of platelet function.

Activation of the hemostatic process in patients with unruptured aortic aneurysm before and in the first week after surgical repair.

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

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

Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

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

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

Cryopreservation of human platelets using dimethyl sulfoxide and glycerol-glucose: effects on "in vitro" platelet function

Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome

Defect of platelet aggregation and adhesion induced by autoantibodies against platelet glycoprotein IIIa

Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome.

Donor-recipient incompatibility at CD31-codon 563 is a major risk factor for acute graft-versus-host disease after allogeneic bone marrow transplantation from a human leucocyte antigen-matched donor

Effect of 52 monoclonal antibodies against platelet membrane on platelet aggregation and release reaction

Effect of anagrelide on platelet count and function in patients with thrombocytosis and myeloproliferative disorders.

Effect of different sample preparation methods on the results of the impedance technique in the study of platelet hyper- and hypo-function in whole blood

Effect of endothelial cells on platelet aggregation in platelet rich plasma (PRP) and whole blood

Factors influencing post-transfusional platelet increment in pediatric patients given hematopoietic stem cell transplantation.

Genetics, clinical and pathological features of glomerulonephrites associated with mutations of nonmuscle myosin IIA (Fechtner syndrome)

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.

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

Hemophagocytic syndrome responding to high-dose gammaglobulin as presenting feature of sarcoidosis

Heparin infusion facilitates ex vivo spontaneous platelet aggregation in patients with acute myocardial infarction who have undergone thrombolytic therapy

Heparin modifies platelet count and function in patients who have undergone thrombolytic therapy for acute myocardial infarction

In vitro and in vivo effects of desmopressin on platelet function.

In vitro platelet aggregation defects in patients with myeloproliferative disorders and high platelet counts: are they laboratory artefacts?

Incompatibility for CD31 and human platelet antigens and acute graft-versus-host disease after bone marrow transplantation

Inherited thrombocytopenias in the era of personalized medicine.

Inherited thrombocytopenias.

Inherited thrombocytopenias: the evolving spectrum.

Innovation in the field of thrombocytopenias: achievements since the beginning of the century and promises for the future.

Investigational drugs in thrombotic thrombocytopenic purpura.

MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness

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

Max(a), a new low-frequency platelet-specific antigen localized on glycoprotein IIb, is associated with neonatal alloimmune thrombocytopenia.

Mean platelet volume for distinguishing between inherited thrombocytopenias and immune thrombocytopenia--response to Beyan

Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

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

Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms

Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia

Personalized reference intervals for platelet count reduce the number of subjects with unexplained thrombocytopenia.

Platelet aggregation in platelet-rich plasma and whole blood in 120 patients with myeloproliferative disorders

Platelet composition and function in patients undergoing cardiopulmonary bypass for heart surgery

Platelet count and aging.

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

Platelet function after in vivo and in vitro treatment with thrombolytic agents

Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia.

Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study

Platelet-Independent defect in hemostasis associated with sirolimus use.

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.

Qualitative and quantitative platelet defect with bleeding symptoms as presenting feature of non Hodgkin lymphomas.

Reversal of thrombin-induced deactivation of CD39/ATPDase in endothelial cells by HMG-CoA reductase inhibition: effects on Rho-GTPase and adenosine nucleotide metabolism.

Ristocetin-induced platelet agglutination stimulates GPIIb/IIIa-dependent calcium influx

SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia

Safety and efficacy of low-dose fondaparinux (1.5 mg) for the prevention of venous thromboembolism in acutely ill medical patients with renal impairment: the FONDAIR study

Small red blood cells mimicking platelets.

Spectrum of the mutations in Bernard-Soulier syndrome

The effect of red cells on platelet aggregation: a study with the electronic whole blood aggregometer

Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings.

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

Thrombopoietin is not uniquely responsible for thrombocytosis in inflammatory disorders

Thrombopoietin levels in patients with primary and reactive thrombocytosis

Transfusion of platelet concentrates cryopreserved with ThromboSol plus low-dose dimethylsulphoxide in patients with severe thrombocytopenia: a pilot study.

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

[Menometrorrhagia in adolescents: is it the first expression of congenital defects of hemostasis?]

von Willebrand disease type 2B must be always considered in the differential diagnosis of genetic thrombocytopenias with giant platelets.

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia