Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

Autor: Daniel J. Hampshire, George J. Burghel, Jenny Goudemand, Laura C. S. Bouvet, Jeroen C. J. Eikenboom, Reinhard Schneppenheim, Ulrich Budde, Ian R. Peake, Anne C. Goodeve

Publikováno v: Haematologica, Vol 95, Iss 12 (2010)

Externí odkaz: https://doaj.org/article/62f86cd2f2b34f259b073543b6ec6dba

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

Autor: Zahra Badiee, Omidreza Zekavat, Reinhard Schneppenheim, Gholamreza Toogeh, Peyman Eshghi, Hamid Hoorfar, Bijan Keikhaei, Andreas Tiede, Luciano Baronciani, Jenny Goudemand, Mehran Karimi, Maria Gabriella Mazzucconi, Maria Fernanda Lopez Fernandez, Marc Trossaert, Massimo Morfini, Jeroen Eikenboom, Cosimo Ettorre, Eva Zetterberg, Imre Bodó, Anne Goodeve, Alberto Tosetto, Ian R. Peake, Ulrich Budde, Pier Mannuccio Mannucci, Augusto B. Federici, Johannes Oldenburg, Erik Berntorp, Javier Battle, Charles R. M. Hay, Rafael Parra Lòpez, Giancarlo Castaman, Flora Peyvandi, Mohammad Reza Baghaipour, Riitta Lassila, Frank W.G. Leebeek

Publikováno v: Journal of Thrombosis and Haemostasis, 18(9), 2145-2154. WILEY
Journal of Thrombosis and Haemostasis, 18(9), 2145-2154. Wiley-Blackwell Publishing Ltd

Background Type 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD. Aims To ev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::539b43dc591d07131948ed6bc02f6e50
http://hdl.handle.net/1887/3184909

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort

Autor: Rachael E. Coyle, Nawal S. Al-Shammari, Türkiz Gürsel, Sarah L. Messenger, Ahlam M. Al-Buhairan, Ian R. Peake, Anne Goodeve, Daniel J. Hampshire, Adel M. Abuzenadah, Michaela Eckert, Ashley Cartwright, Ulrich Budde, Jørgen Ingerslev

Publikováno v: Thrombosis and Haemostasis. 110:264-274

SummarySeveral cohort studies have investigated the molecular basis of von Willebrand disease (VWD); however, these have mostly focused on European and North American populations. This study aimed to investigate mutation spectrum in 26 index cases (I

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7999ec4f2a04ff0e70205e5af28c664f
https://doi.org/10.1160/th13-02-0135

The laboratory diagnosis of haemophilia: Recommendations by the Laboratory Activities Committee of the World Federation of Hemophilia

Autor: Sanford Gitel, Steve Kitchen, Ian R. Peake, Ariella Zivelin, Uri Seligsohn

Publikováno v: Haemophilia : the official journal of the World Federation of Hemophilia. 1(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1ce309a84374353463fbb383e46ba6c
https://pubmed.ncbi.nlm.nih.gov/27214532

Prospective Observation on the Use of Von Willebrand Factor (VWF) Concentrates in a Large Cohort of Type 3 Von Willebrand Disease (VWD): Interim (18-months) Analyses on 149 Cases Enrolled into the 3Winters-Ips Project

Autor: Marc Trossaert, Jenny Goudemand, Maria Fernanda Lopez Fernandez, Peyman Eshghi, Mohammad-Reza Baghaipour, Rafael Parra Lòpez, Hamid Hoorfar, Ian R. Peake, Augusto B. Federici, Alberto Tosetto, Bijan Keikhaei, Zahra Badiee, Renato Marino, Frank W.G. Leebeek, Giancarlo Castaman, C. R. M. Hay, Simona Maria Siboni, Mehran Karimi, Riitta Lassila, Flora Peyvandi, Cristina Santoro, Jeroen Eikenboom

Publikováno v: Blood. 132:2464-2464

Although rare, type 3 von Willebrand disease (VWD3) is of major interest because of its severe clinical presentation, the need for replacement therapy with von Willebrand Factor (VWF) concentrates and the risk of anti-VWF inhibitors. To better charac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41457d8122f406ac616170eaf9b2e5a7
https://doi.org/10.1182/blood-2018-99-112447