Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 57 Records) |
| Query Trace: von Willebrand Disease and VWF[original query] |
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| [Genetic and prenatal diagnosis of a pedigree affected with type 3 von Willebrand disease]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 10 34 (5): 654-657. Zhu Haiyan, Ji Chuny |
| The elusive and heterogeneous pattern of type 2M von Willebrand disease: A diagnostic challenge. European journal of haematology 2018 8 . Casonato Alessandra, Galletta Eva, Daidone Vivia |
| 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 |
| High proportion of patients with bleeding of unknown cause in persons with a mild-to-moderate bleeding tendency: Results from the Vienna Bleeding Biobank (VIBB). Haemophilia : the official journal of the World Federation of Hemophilia 2018 2 24 (3): 405-413. Gebhart J, Hofer S, Panzer S, Quehenberger P, Sunder-Plassmann R, Hoermann G, Eigenbauer E, Haslacher H, Kepa S, Kyrle P A, Eichinger S, Knöbl P, Eischer L, Mannhalter C, Ay C, Pabinger |
| 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 |
| Clinically relevant differences between assays for von Willebrand factor activity. Journal of thrombosis and haemostasis : JTH 2018 10 16 (12): 2413-2424. Boender J, Eikenboom J, van der Bom J G, Meijer K, de Meris J, Fijnvandraat K, Cnossen M H, Laros-van Gorkom B A P, van Heerde W L, Mauser-Bunschoten E P, de Maat M P M, Leebeek F W G, |
| Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients. TH open : companion journal to thrombosis and haemostasis 2019 6 2 (1): e39-e48. Manderstedt Eric, Lind-Halldén Christina, Lethagen Stefan, Halldén Christ |
| Genetic variants of VWF gene in type 2 von Willebrand disease. Haemophilia : the official journal of the World Federation of Hemophilia 2019 3 25 (2): e78-e85. Freitas Samuel da Silva, Rezende Suely Meireles, de Oliveira Luciana Correa, Prezotti Alessandra Nunes Loureiro, Renni Marília Sande, Corsini Camila Amormino, Amorim Marcos Vinícius de Almeida, Matosinho Carolina Guimarães Ramos, Carvalho Maria Raquel Santos, Chaves Daniel Gonçalv |
| Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study. Thrombosis and haemostasis 2019 2 119 (4): 594-605. Vangenechten Inge, Smejkal Petr, Zapletal Ondrej, Michiels Jan Jacques, Berneman Zwi, Zavrelova Jiri, Blatný Jan, Penka Miroslav, Gadisseur Ala |
| 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 |
| Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients. TH open : companion journal to thrombosis and haemostasis 2020 11 4 (4): e322-e331. Manderstedt Eric, Lind-Halldén Christina, Lethagen Stefan, Halldén Christ |
| Type 2N VWD: Conclusions from the Spanish PCM-EVW-ES project. Haemophilia : the official journal of the World Federation of Hemophilia 2021 9 27 (6): 1007-1021. Pérez-Rodríguez Almudena, Batlle Javier, Pinto Joana Costa, Corrales Irene, Borràs Nina, Garcia-Martínez Iris, Cid Ana Rosa, Bonanad Santiago, Parra Rafael, Mingot-Castellano María Eva, Navarro Nira, Altisent Carmen, Pérez-Montes Rocío, Moretó Ana, Herrero Sonia, Soto Inmaculada, Mosteirín Nuria Fernández, Jiménez-Yuste Víctor, Jacob Aurora de Andrés, Fontanes Emilia, Mateo José, Quismondo Nerea Castro, Batlle Fernando, Vidal Francisco, López-Fernández María Fernanda, |
| Genotypes of European and Iranian patients with type 3 von Willebrand disease enrolled in 3WINTERS-IPS. Blood advances 2021 8 5 (15): 2987-3001. Baronciani Luciano, Peake Ian, Schneppenheim Reinhard, Goodeve Anne, Ahmadinejad Minoo, Badiee Zahra, Baghaipour Mohammad-Reza, Benitez Olga, Bodó Imre, Budde Ulrich, Cairo Andrea, Castaman Giancarlo, Eshghi Peyman, Goudemand Jenny, Hassenpflug Wolf, Hoorfar Hamid, Karimi Mehran, Keikhaei Bijan, Lassila Riitta, Leebeek Frank W G, Lopez Fernandez Maria Fernanda, Mannucci Pier Mannuccio, Marino Renato, Nikši? Nikolas, Oyen Florian, Santoro Cristina, Tiede Andreas, Toogeh Gholamreza, Tosetto Alberto, Trossaert Marc, Zetterberg Eva M K, Eikenboom Jeroen, Federici Augusto B, Peyvandi Flo |
| von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene. Blood 2021 Feb . Sadler Brooke, Christopherson Pamela A, Haller Gabe, Montgomery Robert R, Di Paola Jor |
| Variants p.Pro2063Ser and p.Arg324* co-segregate in type 3 von Willebrand disease patients from Southern Brazil. Haemophilia : the official journal of the World Federation of Hemophilia 2021 2 27 (2): e204-e213. Ornaghi Ana Paula, Meireles Mariana Rost, Botton Mariana Rodrigues, Salzano Francisco Mauro, Bandinelli Eliane, Matte Ursu |
| Genetic and Bioinformatic Strategies to Improve Diagnosis in Three Inherited Bleeding Disorders in Bogotá, Colombia. Genes 2021 11 12 (11): . Lago Juliana, Groot Helena, Navas Diego, Lago Paula, Gamboa María, Calderón Dayana, Polanía-Villanueva Diana |
| Phenotypic and Genotypic Signatures of VWF Exon 18 in Eastern Saudi Patients Previously Diagnosed with Type 1 von Willebrand Disease. International journal of general medicine 2022 6 15 5385-5394. Alzahrani Faisal M, Al Faris Asma A, Bashawri Layla A, Hassan Fathelrahman Mahdi, El-Masry Omar S, Aldossary Maryam A, Al Sultan Osama, Borgio J Francis, Alsahli Mohammed A, Goodeve An |
| Importance of Genotyping in von Willebrand Disease to Elucidate Pathogenic Mechanisms and Variability in Phenotype. HemaSphere 2022 6 6 (6): e718. Atiq Ferdows, Boender Johan, van Heerde Waander L, Tellez Garcia Juan M, Schoormans Selene C, Krouwel Sandy, Cnossen Marjon H, Laros-van Gorkom Britta A P, de Meris Joke, Fijnvandraat Karin, van der Bom Johanna G, Meijer Karina, van Galen Karin P M, Eikenboom Jeroen, Leebeek Frank W |
| Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease. Genes 2022 6 13 (6): . Naveed Muhammad Asif, Abid Aiysha, Ali Nadir, Hassan Yaqoob, Amar Ali, Javed Aymen, Qamar Khansa, Mustafa Ghulam, Raza Ali, Saleem Umera, Hussain Shabbir, Shakoor Madiha, Khaliq Shagufta, Mohsin Shahi |
| Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease. Croatian medical journal 2022 5 63 (2): 166-175. Lapi? Ivana, Radi? Antolic Margareta, Boban Ana, Coen Herak Desiree, Rogi? Dunja, Zadro Rena |
| Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease. Blood advances 2022 4 6 (18): 5317-5326. Atiq Ferdows, Heijdra Jessica, Snijders Fleur, Boender Johan, Kempers Eva, van Heerde Waander L, Maas Dominique P M S M, Krouwel Sandy, Schoormans Selene C, de Meris Joke, Schols Saskia E M, van Galen Karin P M, van der Bom Johanna G, Cnossen Marjon H, Meijer Karina, Fijnvandraat Karin, Eikenboom Jeroen, Leebeek Frank W |
| The Lesson Learned from the New c.2547-1G?>?T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect. Thrombosis and haemostasis 2022 2 122 (9): 1479-1485. Casonato Alessandra, Cozzi Maria Rita, Ferrari Silvia, Rubin Beatrice, Gianesello Lisa, De Marco Luigi, Daidone Vivia |
| Analysis of von Willebrand Disease in the "Heart of Europe". TH open : companion journal to thrombosis and haemostasis 2022 10 6 (4): e335-e346. Vangenechten Inge, Smejkal Petr, Zavrelova Jiri, Zapletal Ondrej, Wild Alexander, Michiels Jan Jacques, Berneman Zwi, Blatny Jan, Batorova Angelika, Prigancova Tatiana, Penka Miroslav, Gadisseur Ala |
| 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 |
| Characterization of copy-number variants in a large cohort of patients with von Willebrand disease reveals a relationship between disrupted regions and disease type. Research and practice in thrombosis and haemostasis 2023 12 7 (7): 102232. Brooke Sadler, Pamela A Christopherson, Crystal L Perry, Daniel B Bellissimo, Sandra L Haberichter, Gabe Haller, Lilian Antunes, Veronica H Flood, Jorge Di Paola, Robert R Montgomery, |
| The common VWF variant p.Y1584C: Detailed pathogenic examination of an enigmatic sequence change. Journal of thrombosis and haemostasis : JTH 2023 12 . Pamela A Christopherson, Nathalie Tijet, Sandra L Haberichter, Veronica H Flood, Justyne Ross, Colleen Notley, Orla Rawley, Robert R Montgomery, Zimmerman Project Investigators, Paula D James, David Lillicr |
| Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases. NPJ genomic medicine 2023 10 8 (1): 31. Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Luca Valenti, Flora Peyvan |
| Genetic Variants, Thrombocytopenia and Clinical Phenotype of type 2B von Willebrand Disease: a median 16-year follow-up study. Journal of thrombosis and haemostasis : JTH 2024 9 . Calvin B van Kwawegen, Ferdows Atiq, Dara Endenburg, Karin Fijnvandraat, Karin P M van Galen, Marjon H Cnossen, Saskia E M Schols, Marieke J H A Kruip, Waander L van Heerde, Joke de Meris, Johanna G van der Bom, Jeroen Eikenboom, Karina Meijer, Frank W G Leebeek, |
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