L. Baronciani

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The molecular basis ofvon Willebrand disease

L. Baronciani, 2019, Molecular Hematology 4e.

Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS‐IPS study

F. Rosendaal, P. Mannucci, A. Tosetto, 2022, Journal of thrombosis and haemostasis : JTH.

Role of von Willebrand factor in the haemostasis.

F. Peyvandi, I. Garagiola, L. Baronciani, 2011, Blood transfusion = Trasfusione del sangue.

Platelet morphological changes in 2 patients with von Willebrand disease type 3 caused by large homozygous deletions of the von Willebrand factor gene

P. Nurden, A. Federici, A. Nurden, 2009, Haematologica.

Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

J. Goudemand, C. Halldén, S. Lethagen, 2007, Blood.

Pro-coagulant imbalance in patients with community acquired pneumonia assessed on admission and one month after hospital discharge

F. Peyvandi, V. Monzani, A. Tripodi, 2021, Clinical chemistry and laboratory medicine.

The ADAMTS13‐von Willebrand factor axis in COVID‐19 patients

G. Grasselli, F. Blasi, F. Peyvandi, 2020, Journal of Thrombosis and Haemostasis.

Evaluation of a fully automated von Willebrand factor assay panel for the diagnosis of von Willebrand disease

P. Bucciarelli, F. Peyvandi, L. Baronciani, 2020, Haemophilia : the official journal of the World Federation of Hemophilia.

Increasing levels of von Willebrand factor and factor VIII with age in patients affected by von Willebrand disease

S. le Cessie, F. Rosendaal, F. Peyvandi, 2020, Journal of thrombosis and haemostasis : JTH.

How we make an accurate diagnosis of von Willebrand disease.

F. Peyvandi, L. Baronciani, 2020, Thrombosis research.

Management of Inherited von Willebrand Disease in Italy: Results from the Retrospective Study on 1234 Patients

A. Iorio, P. Mannucci, M. Morfini, 2011, Seminars in thrombosis and hemostasis.

An association of candidate gene haplotypes and bleeding severity in von Willebrand disease type 2A, 2B, and 2M pedigrees

S. Head, D. Salomon, T. Mondala, 2006, Journal of thrombosis and haemostasis : JTH.

Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.

A. Srivastava, P. Mannucci, A. Federici, 2003, Blood cells, molecules & diseases.

Glucose-6-phosphate dehydrogenase activity and protein turnover in erythroblasts separated by velocity sedimentation at unit gravity and percoll gradient centrifugation

P. Ninfali, F. Palma, L. Baronciani, 1991, Molecular and Cellular Biochemistry.

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

L. Baronciani, E. Beutler, 1995, The Journal of clinical investigation.

Acquired von Willebrand syndrome type 2 A in a JAK 2-positive essential thrombocythaemia-affected member of a large von Willebrand disease family with a novel autosomal dominant A 1716 P mutation

A. Federici, P. Gresele, L. Baronciani, 2018 .

Acquired von Willebrand syndrome type 2A in a JAK2-positive essential thrombocythaemia -affected member of a large von Willebrand disease family with a novel autosomal dominant A1716P mutation

A. Federici, P. Gresele, L. Baronciani, 2011, Thrombosis and Haemostasis.

Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.

T. Lappin, D. Mahoney, A. Adekile, 1995, Blood cells, molecules & diseases.

Molecular analysis of G6PD variants in northern Italy: a study on the population from the Ferrara district

M. Magnani, E. Beutler, A. Ruzzo, 1993, Human Genetics.

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination

P. Bucciarelli, F. Peyvandi, L. Baronciani, 2015, Journal of thrombosis and haemostasis : JTH.

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients

C. Cordiglieri, F. Peyvandi, L. Baronciani, 2022, Haemophilia : the official journal of the World Federation of Hemophilia.

Prevalence of type 2b ‘Malmö/New York’ von Willebrand disease in Italy: the role of von Willebrand factor gene conversion

G. Castaman, A. Federici, L. Baronciani, 2008, Journal of thrombosis and haemostasis : JTH.

Biochemical characterization of a recombinant von Willebrand factor (VWF) with combined type 2B and type 1 defects in the VWF gene in two patients with a type 2A phenotype of von Willebrand disease

A. Federici, L. Baronciani, M. Canciani, 2007, Journal of thrombosis and haemostasis : JTH.

Different bleeding risk in type 2A and 2M von Willebrand disease: a 2‐year prospective study in 107 patients: a reply to a rebuttal

G. Castaman, A. Federici, L. Baronciani, 2012 .

von Willebrand factor collagen binding assay in von Willebrand disease type 2A, 2B, and 2M

P. Mannucci, A. Federici, A. Federici, 2006, Journal of thrombosis and haemostasis : JTH.

Evaluation of the Utility of von Willebrand Factor Propeptide in the Differential Diagnosis of von Willebrand Disease and Acquired von Willebrand Syndrome

P. Bucciarelli, F. Peyvandi, L. Baronciani, 2018, Seminars in Thrombosis and Hemostasis.

Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization

P. Mannucci, A. Federici, L. Baronciani, 2009, Journal of thrombosis and haemostasis : JTH.

A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.

A. Federici, C. Mazurier, L. Baronciani, 2004, Haematologica.

Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia.

A. Zanella, G. Sirchia, A. Iolascon, 1996, Blood.

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

P. Noris, A. Federici, C. Balduini, 2006, Platelets.

Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients.

P. Mannucci, P. D. de Groot, P. Lenting, 2009, Blood.

Clinical, Laboratory, and Molecular Markers of Type 3 von Willebrand Disease

J. Eikenboom, A. Federici, L. Baronciani, 2011 .

Predictors of von Willebrand disease diagnosis in individuals with borderline von Willebrand factor plasma levels

F. Rosendaal, P. Bucciarelli, F. Peyvandi, 2015, Journal of thrombosis and haemostasis : JTH.

Comparison of von Willebrand factor platelet‐binding activity assays: ELISA overreads type 2B with loss of HMW multimers

R. Montgomery, G. Castaman, F. Peyvandi, 2020, Journal of thrombosis and haemostasis : JTH.

An international collaborative study to compare different von Willebrand factor glycoprotein Ib binding activity assays: the COMPASS‐VWF study

R. Montgomery, G. Castaman, F. Peyvandi, 2018, Journal of thrombosis and haemostasis : JTH.

A two‐centre comparative evaluation of new automated assays for von Willebrand factor ristocetin cofactor activity and antigen

F. Peyvandi, L. Baronciani, F. Stufano, 2014, Haemophilia : the official journal of the World Federation of Hemophilia.

Bleeding symptoms in patients diagnosed as type 3 von Willebrand disease: Results from 3WINTERS‐IPS, an international and collaborative cross‐sectional study

P. Mannucci, J. Oldenburg, M. Morfini, 2020, Journal of thrombosis and haemostasis : JTH.

Molecular diagnosis of von Willebrand disease

F. Peyvandi, A. Goodeve, L. Baronciani, 2017, Haemophilia : the official journal of the World Federation of Hemophilia.

Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from patients with von Willebrand disease type 2B.

P. Nurden, A. Federici, A. Nurden, 2010, Blood.

Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS.

P. Mannucci, A. Tosetto, J. Goudemand, 2021, Blood advances.

Molecular Characterization of a Multiethnic Group of 21 Patients with Type 3 von Willebrand Disease

P. Mannucci, P. Mannucci, A. Federici, 2000, Thrombosis and Haemostasis.

An association of candidate gene haplotypes and bleeding severity in von Willebrand disease (VWD) type 1 pedigrees.

J. Koziol, S. Head, D. Salomon, 2004, Blood.

Rapid purification of glucose-6-phosphate dehydrogenase from mammal's erythrocytes.

P. Ninfali, S. Rapa, L. Baronciani, 1990, Preparative biochemistry.

Muscle expression of glucose‐6‐phosphate dehydrogenase deficiency in different variants

N. Bresolin, P. Ninfali, A. Bardoni, 1995, Clinical genetics.

Molecular characterization of the PK‐LR gene in sixteen pyruvate kinase‐deficient patients

A. Zanella, P. Bianchi, F. Cotton, 2001, British journal of haematology.

A variant of the EPB3 gene of the anti‐Lepore type in hereditary spherocytosis

A. Zanella, G. Sirchia, G. Barosi, 1997, British journal of haematology.

Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.

A. Zanella, G. Sirchia, P. Bianchi, 1997, Blood.

Mutations in pyruvate kinase

E. Beutler, L. Baronciani, 1996, Human mutation.

Hematologically important mutations: red cell pyruvate kinase (2nd update).

A. Zanella, P. Bianchi, L. Baronciani, 1998, Blood cells, molecules & diseases.

Prenatal diagnosis of pyruvate kinase deficiency.

L. Baronciani, E. Beutler, L. Baronciani, 1994, Blood.

Acetaldehyde oxidation by aldehyde dehydrogenase loaded erythrocytes.

M. Magnani, L. Rossi, P. Ninfali, 1992, Advances in experimental medicine and biology.

G6PD “campinas:” A deficient enzyme with a mutation at the far 3′ end of the gene

E. Beutler, F. Tricta, L. Baronciani, 1993, Human mutation.

Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay

P. Mannucci, S. Duga, M. Platé, 2010, Haematologica.

Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

L. Baronciani, L Baronciani, E Beutler, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Willebrand Disease (VWD) type 1 pedigrees An association of candidate gene haplotypes and bleeding severity in Von

J. Koziol, D. Salomon, A. Federici, 2013 .

Von Willebrand Disease (vwd) Type 1 Pedigrees an Association of Candidate Gene Haplotypes and Bleeding Severity In

J. Koziol, S. Head, D. Salomon, 2022 .

Abnormal Large Platelets Are Associated Not Only with von Willebrand Disease (VWD) Type 2B (Including Type 2B/1 New York) but Also with Severe Type 3: A Potential Role for von Willebrand Factor (VWF) in Megakaryocytopoiesis.

P. Nurden, A. Federici, A. Nurden, 2007 .

Expression studies on a novel type 2B variant of the von Willebrand factor gene (R1308L) characterized by defective collagen binding

A. Federici, L. Baronciani, M. Canciani, 2005, Journal of thrombosis and haemostasis : JTH.

von Willebrand disease type 1 mutation p.Arg1379Cys and the variant p.Ala1377Val synergistically determine a 2M phenotype in four Italian patients

F. Peyvandi, L. Baronciani, M. T. Pagliari, 2016, Haemophilia : the official journal of the World Federation of Hemophilia.

CLINICAL AND MOLECULAR PREDICTORS OF THROMBOCYTOPENIA AND RISK OF BLEEDING IN PATIENTS WITH VON WILLEBRAND DISEASE TYPE 2B: A COHORT STUDY OF 67 PATIENTS Running title: Thrombocytopenia and bleeding risk in VWD 2B

P. Mannucci, P. Lenting, P. Bucciarelli, 2008 .

Molecular Mapping of the Chloride-binding Site in von Willebrand Factor (VWF)

P. Mannucci, A. Federici, R. De Cristofaro, 2006, Journal of Biological Chemistry.

The type 2B p.R1306W natural mutation of von Willebrand factor dramatically enhances the multimer sensitivity to shear stress

M. Papi, M. Spirito, A. Arcovito, 2013, Journal of thrombosis and haemostasis : JTH.

Relevance of chloride binding to von Willebrand factor in type 2B von Willebrand disease patients

R. De Cristofaro, F. Peyvandi, A. Federici, 2010, Journal of thrombosis and haemostasis : JTH.

Differential diagnosis between type 2A and 2B von Willebrand disease in a child with a previously undescribed de novo mutation

F. Peyvandi, L. Baronciani, M. T. Pagliari, 2018, Haemophilia : the official journal of the World Federation of Hemophilia.

Glucose-6-phosphate dehydrogenase Lodi844C: a study on its expression in blood cells and muscle.

N. Bresolin, G. Comi, G. Scarlato, 1991, Enzyme.

A synonymous (c.3390C>T) or a splice‐site (c.3380‐2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE)

F. Peyvandi, L. Baronciani, M. T. Pagliari, 2013, Journal of thrombosis and haemostasis : JTH.

A comparative study in patients with type 2 von Willebrand disease using 4 different platelet-dependent von Willebrand factor assays

F. Peyvandi, L. Baronciani, M. T. Pagliari, 2023, Research and practice in thrombosis and haemostasis.

Abnormal VWF modifies megakaryocytopoiesis: studies of platelets and megakaryocyte cultures from von Willebrand disease type 2B patients Short Title: Abnormal platelet production in human VWD2B

P. Nurden, M. Vitale, A. Federici, 2010 .

Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease

P. Mannucci, A. Federici, A. Federici, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients

A. Federici, F. Peyvandi, R. Asselta, 2012, American journal of hematology.

A two-step approach (Enzyme-linked immunosorbent assay and confirmation assay) to detect antibodies against von Willebrand factor in patients with Acquired von Willebrand Syndrome.

F. Peyvandi, L. Baronciani, F. Stufano, 2014, Thrombosis research.

New glucose-6-phosphate dehydrogenase mutations from various ethnic groups

E. Beutler, G. Vaca, L. Baronciani, 1992 .

Hematologically important mutations: red cell pyruvate kinase.

A. Zanella, P. Bianchi, L. Baronciani, 1996, Blood cells, molecules & diseases.

Glucose-6-phosphate dehydrogenase activity in dorsal root ganglia of vitamin E-deficient rats.

R. Cuppini, P. Ninfali, S. Rapa, 1991, Annals of nutrition & metabolism.

Goat immunoglobulin purification on phosphocellulose and DEAE Affi-Gel blue.

F. Mannello, P. Ninfali, S. Rapa, 1994, Preparative biochemistry.

Studies with the Nanobody That Detects the Gain-of-Function of von Willebrand Factor in a Cohort of Patients with Type 2B von Willebrand Disease: Correlation with Platelet Count, VWF Multimers and Molecular Defects.

P. Mannucci, P. Lenting, A. Federici, 2006 .

A new case of adenylate kinase associated with hemolytic anemia due to anon sense mutation in AK-1 gene ARG107->stop. CGA->TGA

A. Zanella, P. Bianchi, F. Barraco, 1997 .

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases

L. Baronciani, A. Cairo, Omid Seidizadeh, 2023, npj Genomic Medicine.

Evaluation of an heterogeneous group of patients with von Willebrand disease using an assay alternative to ristocetin induced platelet agglutination

P. Bucciarelli, L. Baronciani, M. T. Pagliari, 2015, Journal of thrombosis and haemostasis : JTH.

A synonymous (c.3390C>T) or a splice‐site (c.3380‐2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE)

L. Baronciani, M. T. Pagliari, M. Canciani, 2013, Journal of thrombosis and haemostasis : JTH.

Pulmonary tumour thrombotic microangiopathy in a young man: clinical and immunohistochemical characterisation of a rare complication of gastric signet-ring cell carcinoma.

F. Peyvandi, A. Artoni, G. Lopez, 2021, Blood transfusion = Trasfusione del sangue.

A comparative evaluation of a new fully automated assay for von Willebrand factor collagen binding activity to an established method

F. Peyvandi, L. Baronciani, F. Stufano, 2018, Haemophilia : the official journal of the World Federation of Hemophilia.

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2

F. Peyvandi, L. Baronciani, M. T. Pagliari, 2022, Blood advances.