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| Von Willebrand factor propeptide and pathophysiological mechanisms in European and Iranian patients with type 3 von Willebrand disease enrolled in the 3WINTERS-IPS study. Journal of thrombosis and haemostasis : JTH 2022 Jan . Pagliari Maria Teresa, Rosendaal Frits R, Ahmadinejad Minoo, Badiee Zahra, Baghaipour Mohammad-Reza, Baronciani Luciano, Benítez Hidalgo Olga, Bodó Imre, Budde Ulrich, Castaman Giancarlo, Eshghi Peyman, Goudemand Jenny, Karimi Mehran, Keikhaei Bijan, Lassila Riitta, Leebeek Frank W G, Lopez Fernandez Maria Fernanda, Mannucci Pier Mannuccio, Marino Renato, Oldenburg Johannes, Peake Ian, Santoro Cristina, Schneppenheim Reinhard, Tiede Andreas, Toogeh Gholamreza, Tosetto Alberto, Trossaert Marc, Yadegari Hamideh, Zetterberg Eva M K, Peyvandi Flora, Federici Augusto B, Eikenboom Jero |
| von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene. Blood 2021 Feb . Sadler Brooke, Christopherson Pamela, Haller Gabe, Montgomery Robert R, Di Paola Jorge, Investigators The Zimmerman Progr |
| Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort. Thrombosis and haemostasis 2020 Mar 120 (3): 437-448. Borràs Nina, Garcia-Martínez Iris, Batlle Javier, Pérez-Rodríguez Almudena, Parra Rafael, Altisent Carme, López-Fernández María Fernanda, Costa Pinto Joana, Batlle-López Fernando, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Mingot-Castellano María Eva, Navarro Nira, Pérez-Montes Rocío, Marcellini Shally, Moreto Ana, Herrero Sonia, Soto Inmaculada, Fernández-Mosteirín Núria, Jiménez-Yuste Víctor, Alonso Nieves, de Andrés-Jacob Aurora, Fontanes Emilia, Campos Rosa, Paloma María José, Bermejo Nuria, Berrueco Rubén, Mateo José, Arribalzaga Karmele, Marco Pascual, Palomo Ángeles, Castro Quismondo Nerea, Iñigo Belén, Del Mar Nieto María, Vidal Rosa, Martínez María Paz, Aguinaco Reyes, Tenorio Maria, Ferreiro María, García-Frade Javier, Rodríguez-Huerta Ana María, Cuesta Jorge, Rodríguez-González Ramón, García-Candel Faustino, Dobón Manuela, Aguilar Carlos, Corrales Irene, Vidal Francis |
| Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients. Thrombosis and haemostasis 2018 Jul . Lind-Halldén Christina, Manderstedt Eric, Carlberg Daniel, Lethagen Stefan, Halldén Christ |
| Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD. Research and practice in thrombosis and haemostasis 2018 Apr 2 (2): 390-398. Flood Veronica H, Johnsen Jill M, Kochelek Caroline, Slobodianuk Tricia L, Christopherson Pamela A, Haberichter Sandra L, Udani Rupa, Bellissimo Daniel B, Friedman Kenneth D, Montgomery Robert |
| Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients. PloS one 2018 13 (2): e0192024. Manderstedt Eric, Lind-Halldén Christina, Lethagen Stefan, Halldén Christ |
| Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. Haematologica 2017 Sep . Borràs Nina, Batlle Javier, Pérez-Rodríguez Almudena, López-Fernández María Fernanda, Rodríguez-Trillo Ángela, Lourés Esther, Cid Ana Rosa, Bonanad Santiago, Cabrera Noelia, Moret Andrés, Parra Rafael, Mingot-Castellano María Eva, Balda Ignacia, Altisent Carme, Pérez-Montes Rocío, Fisac Rosa María, Iruín Gemma, Herrero Sonia, Soto Inmaculada, de Rueda Beatriz, Jimimenez-Yuste Victor, Alonso Nieves, Vilariño Dolores, Arija Olga, Campos Rosa, Paloma María José, Bermejo Nuria, Berrueco Rubén, Mateo José, Arribalzaga Karmele, Marco Pascual, Palomo Ángeles, Sarmiento Lizheidy, Iñigo Belén, Nieto María Del Mar, Vidal Rosa, Martínez María Paz, Aguinaco Reyes, César Jesús María, Ferreiro María, García-Frade Javier, Rodríguez-Huerta Ana María, Cuesta Jorge, Rodríguez-González Ramón, García-Candel Faustino, Cornudella Rosa, Aguilar Carlos, Vidal Francisco, Corrales Ire |
| Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex technique. Thrombosis and haemostasis 2017 May . Liang Qian, Qin Huanhuan, Ding Qiulan, Xie Xiaoling, Wu Runhui, Wang Hongli, Hu Yiqun, Wang Xuefe |
| Association between Genetic Polymorphism and Risk of von Willebrand Disease in Pakistan. BioMed research international 2017 2017 1070471. Arshad Najma, Nawaz Syed Kashif, Iqbal Riffat, Arshad Muhammad, Musheer Farhana, Naz Amber, Mushtaq Iqra, Jaleel Sa |
| Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes. Thrombosis and haemostasis 2016 Oct 117 (1): . Bastida Bermeja Jose Maria, González-Porras Jose Ramon, Jiménez Cristina, Benito Rocio, Ordoñez Gonzalo R, Álvarez-Román Maria Teresa, Fontecha M Elena, Janusz Kamila, Castillo David, Fisac Rosa María, García-Frade Luis Javier, Aguilar Carlos, Martínez María Paz, Bermejo Nuria, Herrero Sonia, Balanzategui Ana, Martin-Antorán Jose Manuel, Ramos Rafael, Cebeiro Maria Jose, Pardal Emilia, Aguilera Carmen, Pérez-Gutierrez Belen, Prieto Manuel, Riesco Susana, Mendoza Maria Carmen, Benito Ana, Hortal Benito-Sendin Ana, Jiménez-Yuste Víctor, Hernández-Rivas Jesus Maria, García-Sanz Ramon, González-Díaz Marcos, Sarasquete Maria Eugen |
| Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States. Blood 2016 05 127 (20): 2481-8. Flood Veronica H, Christopherson Pamela A, Gill Joan Cox, Friedman Kenneth D, Haberichter Sandra L, Bellissimo Daniel B, Udani Rupa A, Dasgupta Mahua, Hoffmann Raymond G, Ragni Margaret V, Shapiro Amy D, Lusher Jeanne M, Lentz Steven R, Abshire Thomas C, Leissinger Cindy, Hoots W Keith, Manco-Johnson Marilyn J, Gruppo Ralph A, Boggio Lisa N, Montgomery Kate T, Goodeve Anne C, James Paula D, Lillicrap David, Peake Ian R, Montgomery Robert |
Genome-wide association studies identify genetic loci for low von Willebrand factor levels.
European journal of human genetics : EJHG 2015 Oct . van Loon Janine, Dehghan Abbas, Weihong Tang, Trompet Stella, McArdle Wendy L, Asselbergs Folkert F W, Chen Ming-Huei, Lopez Lorna M, Huffman Jennifer E, Leebeek Frank W G, Basu Saonli, Stott David J, Rumley Ann, Gansevoort Ron T, Davies Gail, Wilson James J F, Witteman Jacqueline C M, Cao Xiting, de Craen Anton J M, Bakker Stephan J L, Psaty Bruce M, Starr John M, Hofman Albert, Wouter Jukema J, Deary Ian J, Hayward Caroline, van der Harst Pim, Lowe Gordon D O, Folsom Aaron R, Strachan David P, Smith Nicolas, de Maat Moniek P M, O'Donnell Christoph |
| Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm. Thrombosis and haemostasis 2015 Aug 114 (6): . Batlle J, Pérez-Rodríguez A, Corrales I, López-Fernández M F, Rodríguez-Trillo Á, Lourés E, Cid A R, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellanos M E, Balda I, Altisent C, Pérez-Montes R, Fisac R M, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma M J, Bermejo N, Toll T, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto M, Vidal R, Martínez M P, Aguinaco R, César J M, Ferreiro M, García-Frade J, Rodríguez-Huerta A M, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Borràs N, Vidal |
| von Willebrand factor propeptide and the phenotypic classification of von Willebrand disease. Blood 2015 May 125 (19): 3006-13. Sanders Yvonne V, Groeneveld Dafna, Meijer Karina, Fijnvandraat Karin, Cnossen Marjon H, van der Bom Johanna G, Coppens M, de Meris Joke, Laros-van Gorkom Britta A P, Mauser-Bunschoten Eveline P, Leebeek Frank W G, Eikenboom Jeroen, |
| A common VWF exon 28 haplotype in the Turkish population. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2013 Sep 19 (5): 550-6. Berber Ergul, Pehlevan Funda, Akin Mehmet, Capan Ozlem Yalcin, Kavakli Kaan, Çaglayan S Han |
| Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood 2013 Jul 122 (4): 590-7. Johnsen Jill M, Auer Paul L, Morrison Alanna C, Jiao Shuo, Wei Peng, Haessler Jeffrey, Fox Keolu, McGee Sean R, Smith Joshua D, Carlson Christopher S, Smith Nicholas, Boerwinkle Eric, Kooperberg Charles, Nickerson Deborah A, Rich Stephen S, Green David, Peters Ulrike, Cushman Mary, Reiner Alex P, |
| Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes. Journal of thrombosis and haemostasis : JTH 2013 Feb 11 (2): 261-9. Wang Q Y, Song J, Gibbs R A, Boerwinkle E, Dong J F, Yu F |
| Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients. PloS one 2012 7 (7): 7. van Loon JE, Sanders YV, de Wee EM, Kruip MJ, de Maat MP, Leebeek FW |
| Classification of exon 18 linked variants of VWF gene in von Willebrand disease. International journal of molecular epidemiology and genetics 2012 3 (1): 77-83. Shahbazi Shirin, Alavi Sara, Mahdian Re |
| Genetic determinants of plasma von Willebrand factor antigen levels: a target gene SNP and haplotype analysis of ARIC cohort. Blood 2011 May 117 (19): 5224-30. Campos Marco, Sun Wei, Yu Fuli, Barbalic Maja, Tang Weihong, Chambless Lloyd E, Wu Kenneth K, Ballantyne Christie, Folsom Aaron R, Boerwinkle Eric, Dong Jing-F |
| von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels. Journal of thrombosis and haemostasis : JTH 2010 Sep 8 (9): 1986-93. Hickson N, Hampshire D, Winship P, Goudemand J, Schneppenheim R, Budde U, Castaman G, Rodeghiero F, Federici A B, James P, Peake I, Eikenboom J, Goodeve A, |
| Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor. Blood 2010 Jul 116 (2): 280-6. Flood Veronica H, Gill Joan Cox, Morateck Patricia A, Christopherson Pamela A, Friedman Kenneth D, Haberichter Sandra L, Branchford Brian R, Hoffmann Raymond G, Abshire Thomas C, Di Paola Jorge A, Hoots W Keith, Leissinger Cindy, Lusher Jeanne M, Ragni Margaret V, Shapiro Amy D, Montgomery Robert |
| Impact of thrombogenic mutations on clinical phenotypes of von Willebrand disease. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2010 Jun 16 (3): 281-7. Ahmad Firdos, Kannan Meganathan, Yadav Vinita, Biswas Arijit, Saxena Re |
| Impact of 789Ala/Ala genotype on quantitative type of von Willebrand disease. Annals of hematology 2009 May 88 (5): 479-83. Ahmad Firdos, Kannan Meganathan, Biswas Arijit, Saxena Re |
| Measurement of von Willebrand factor-FVIII binding activity in patients with suspected von Willebrand disease type 2N: application of an ELISA-based assay in a reference laboratory. Haemophilia : the official journal of the World Federation of Hemophilia 2009 May 15 (3): 788-96. Zhukov O, Popov J, Ramos R, Vause C, Ruden S, Sferruzza A, Dlott J, Sahud |
| Distribution of von Willebrand factor levels in young women with and without bleeding symptoms: influence of ABO blood group and promoter haplotypes. Thrombosis and haemostasis 2008 Jun 99 (6): 1013-8. Lethagen S, Hillarp A, Ekholm C, Mattson E, Halldén C, Friberg B |
| Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population. Acta haematologica 2006 115 (1-2): 64-7. Trasi Sucheta, Mohanty Dipika, Pathare Anil, Shetty Shrimati, Ghosh Kanjaks |
| Von Willebrand gene tracking by single-tube automated fluorescent analysis of four short tandem repeat polymorphisms. Thrombosis and haemostasis 2005 May 93 (5): 976-81. Vidal Francisco, Julià Antoni, Altisent Carme, Puig Lluís, Gallardo Doiniq |
| A novel type 2A (Group II) von Willebrand disease mutation (L1503Q) associated with loss of the highest molecular weight von Willebrand factor multimers. Journal of thrombosis and haemostasis : JTH 2004 Jul 2 (7): 1135-42. O'Brien L A, Sutherland J J, Hegadorn C, Benford K, Racz H, Rapson D, Hough C, Lillicrap |
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