List of works - Sonja Schneppenheim

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis

scientific article

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

scientific article published on March 29, 2010

Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis

scientific article published on 08 October 2009

Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease

scientific article

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

scientific article published in June 2005

Von Willebrand factor regulates complement on endothelial cells.

scientific article published on 25 May 2016

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

scientific article published on March 24, 2010

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels

scientific article

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor

scientific article published on 06 March 2014

Plasmin Cleaves Von Willebrand Factor at K1491-R1492 in the A1-A2 Linker Region in a Shear- and Glycan-Dependent Manner In Vitro

scientific article

Inherited Thrombotic Thrombocytopenic Purpura in Children

scientific article published on May 11, 2014

von Willebrand factor is dimerized by protein disulfide isomerase

scientific article

Acquired type 2A von Willebrand syndrome caused by aortic valve disease corrects during valve surgery

scientific article published on January 28, 2011

Distinct mechanisms account for acquired von Willebrand syndrome in plasma cell dyscrasias

scientific article published on 04 April 2016

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization

scientific article published on 01 July 2004

Response to DDAVP in children with von Willebrand disease type 2.

scientific article published in May 2009

Acquired hemophilia A and von Willebrand syndrome in a patient with late-onset systemic lupus erythematosus

scientific article published on August 20, 2014

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

scientific article

Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations

scientific article published on July 9, 2013

Correction of acquired von Willebrand syndrome by transcatheter aortic valve implantation

scientific article published on December 1, 2014

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.

scientific article published on 19 March 2018

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient

scientific article published on May 7, 2013

First-in-Man Emergency Use of Plasminogen Replacement for Respiratory Failure Due to Congenital Hypoplasminogenemia

scholarly article

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation

scientific article published on 04 May 2020

Novel Insights into the Clinical Phenotype and Pathophysiology Underlying Low VWF Levels: The Low Von Willebrand Factor in Ireland Cohort (LoVIC) Study

scholarly article

Characterization of VWF gene conversions causing von Willebrand disease

article

Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging

scientific article published in PLoS ONE

Spectrum Of The Acquired Von Willebrand Syndrome In a Large Cohort Of Patients Diagnosed In a Single Institution

scholarly article

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

scientific article published on 25 June 2016

The Acquired Von Willebrand Syndrome in Patients with Monoclonal IgA Proteins Is Rare but May be Clinically Severe

scholarly article

Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations

scientific article published on 29 April 2019

Link between von Willebrand factor multimers, relapses and coronary microcirculation in patients with thrombotic thrombocytopenic purpura in remission

scientific article published on 12 November 2018

List of works by Sonja Schneppenheim

Impact of mutations in the von Willebrand factor A2 domain on ADAMTS13-dependent proteolysis

A cluster of mutations in the D3 domain of von Willebrand factor correlates with a distinct subgroup of von Willebrand disease: type 2A/IIE

Shear-induced unfolding activates von Willebrand factor A2 domain for proteolysis

Expression and characterization of von Willebrand factor dimerization defects in different types of von Willebrand disease

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.

Von Willebrand factor regulates complement on endothelial cells.

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF

Novel insights into the clinical phenotype and pathophysiology underlying low VWF levels

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor

Plasmin Cleaves Von Willebrand Factor at K1491-R1492 in the A1-A2 Linker Region in a Shear- and Glycan-Dependent Manner In Vitro

Inherited Thrombotic Thrombocytopenic Purpura in Children

von Willebrand factor is dimerized by protein disulfide isomerase

Acquired type 2A von Willebrand syndrome caused by aortic valve disease corrects during valve surgery

Distinct mechanisms account for acquired von Willebrand syndrome in plasma cell dyscrasias

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization

Response to DDAVP in children with von Willebrand disease type 2.

Acquired hemophilia A and von Willebrand syndrome in a patient with late-onset systemic lupus erythematosus

The problem of novel FVIII missense mutations for haemophilia A genetic counseling.

Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations

Correction of acquired von Willebrand syndrome by transcatheter aortic valve implantation

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.

Identification of a homozygous Cys410Ser mutation in the von Willebrand factor D2 domain causing type 2A(IIC) von Willebrand disease phenotype in an Iranian patient

First-in-Man Emergency Use of Plasminogen Replacement for Respiratory Failure Due to Congenital Hypoplasminogenemia

Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation

Novel Insights into the Clinical Phenotype and Pathophysiology Underlying Low VWF Levels: The Low Von Willebrand Factor in Ireland Cohort (LoVIC) Study

Characterization of VWF gene conversions causing von Willebrand disease

Advancing multimer analysis of von Willebrand factor by single-molecule AFM imaging

Spectrum Of The Acquired Von Willebrand Syndrome In a Large Cohort Of Patients Diagnosed In a Single Institution

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

The Acquired Von Willebrand Syndrome in Patients with Monoclonal IgA Proteins Is Rare but May be Clinically Severe

Alteration in GPIIb/IIIa Binding of VWD-Associated von Willebrand Factor Variants with C-Terminal Missense Mutations

Link between von Willebrand factor multimers, relapses and coronary microcirculation in patients with thrombotic thrombocytopenic purpura in remission