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von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein

Journal of thrombosis and haemostasis, 2011-07, Vol.9, p.209-215

2011

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

Journal of thrombosis and haemostasis, 2009-12, Vol.7 (12), p.2096-2105

2009

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Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

Journal of thrombosis and haemostasis, 2006-10, Vol.4 (10), p.2103-2114

2006

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Platelet‐dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH

Journal of thrombosis and haemostasis, 2015-07, Vol.13 (7), p.1345-1350

2015

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

Journal of thrombosis and haemostasis, 2016-09, Vol.14 (9), p.1725-1735

2016

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A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD)

Journal of thrombosis and haemostasis, 2006-04, Vol.4 (4), p.766-773

2006

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

Journal of thrombosis and haemostasis, 2018-08, Vol.16 (8), p.1604-1613

2018

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High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB)

Bone marrow transplantation (Basingstoke), 2014-03, Vol.49 (3), p.370-375

2014

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Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor

Haematologica (Roma), 2008-01, Vol.93 (1), p.137-140

2008

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Angeborenes und erworbenes von-Willebrand-Syndrom

Hämostaseologie, 2008, Vol.28 (5), p.312-319

2008

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Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM‐1VWD)

Journal of thrombosis and haemostasis, 2008-05, Vol.6 (5), p.762-771

2008

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

Haemophilia : the official journal of the World Federation of Hemophilia, 2013-11, Vol.19 (6), p.e344-e348

2013

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Interactions of von Willebrand factor and ADAMTS13 in von Willebrand disease and thrombotic thrombocytopenic purpura

Hämostaseologie, 2014, Vol.34 (3), p.215-225

2014

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Glial papillary tumour of the spinal cord with SMARCB1/INI1‐loss and favourable long‐term outcome

Neuropathology and applied neurobiology, 2018-02, Vol.44 (2), p.229-232

2018

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Laboratory diagnosis of von Willebrand disease

Hämostaseologie, 2010-11, Vol.30 (4), p.203-206

2010

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Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady

Klinische Padiatrie, 2015-05, Vol.227 (3), p.171

2015

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Identification of novel NOTCH1 mutations: Increasing our knowledge of the NOTCH signaling pathway

Pediatric blood & cancer, 2014-05, Vol.61 (5), p.788-796

2014

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Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease

Haemophilia : the official journal of the World Federation of Hemophilia, 2014-07, Vol.20 (4), p.e311-e317

2014

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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

Haemophilia : the official journal of the World Federation of Hemophilia, 2013-07, Vol.19 (4), p.e261-e264

2013

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Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project

Klinische Padiatrie, 2015-05, Vol.227 (3), p.131-136

2015

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Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry

Hämostaseologie, 2013, Vol.33 (2), p.138-143

2013

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Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry

Klinische Padiatrie, 2014-05, Vol.226 (3), p.143-148

2014

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48. GTH-Jahrestagung 2004

Hämostaseologie, 2004, Vol.24 (1), p.3-3

Schneppenheim, R.

2004

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Von-Willebrand-Syndrom und thrombotisch-thrombozytopenische Purpura: Zwei Seiten des von-Willebrand-Faktors

Hämostaseologie, 2004, Vol.24 (1), p.7-7

Schneppenheim, R.

2004

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An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary

Journal of thrombosis and haemostasis, 2008-10, Vol.6 (10), p.1729-1735

2008

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von Willebrand factor: the complex molecular genetics of a multidomain and multifunctional protein

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

Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor

Platelet‐dependent von Willebrand factor activity. Nomenclature and methodology: communication from the SSC of the ISTH

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

A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD)

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

High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB)

Inflammation-associated ADAMTS13 deficiency promotes formation of ultra-large von Willebrand factor

Angeborenes und erworbenes von-Willebrand-Syndrom

Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM‐1VWD)

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

Interactions of von Willebrand factor and ADAMTS13 in von Willebrand disease and thrombotic thrombocytopenic purpura

Glial papillary tumour of the spinal cord with SMARCB1/INI1‐loss and favourable long‐term outcome

Laboratory diagnosis of von Willebrand disease

Delayed Diagnosis of Platelet-type von Willebrand Disease in a 72-year-old Lady

Identification of novel NOTCH1 mutations: Increasing our knowledge of the NOTCH signaling pathway

Germline de novo mutations and linkage markers vs. DNA sequencing for carrier detection in von Willebrand disease

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

Platelet-type von Willebrand Disease: Diagnostic Challenges. Flaws and Pitfalls Experienced in the THROMKID Quality Project

Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry

Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors - experience of the EU-RHAB registry

48. GTH-Jahrestagung 2004

Von-Willebrand-Syndrom und thrombotisch-thrombozytopenische Purpura: Zwei Seiten des von-Willebrand-Faktors

An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary

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