Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 122 Records) |
| Query Trace: Disease and VWF[original query] |
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| 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 |
| Molecular classification of blood and bleeding disorder genes. NPJ genomic medicine 2021 Jul 6 (1): 62. Baz Batoul, Abouelhoda Mohamed, Owaidah Tarek, Dasouki Majed, Monies Dorota, Al Tassan Na |
| von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study. Clinical immunology (Orlando, Fla.) 2021 7 229 108794. Chen Yun-Ying, Han Sha-Sha, Cao Yang, Yu Xiao-Juan, Zhu Li, Luo Jin-Cai, Song Wen-Chao, Yu Feng, Mao Yong-Hui, Zhao Ming-H |
| 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 |
| The Genetic Risk for COVID-19 Severity Is Associated With Defective Immune Responses. Frontiers in immunology 2022 5 13 859387. Kuijpers Yunus, Chu Xiaojing, Jaeger Martin, Moorlag Simone J C F M, Koeken Valerie A C M, Zhang Bowen, de Nooijer Aline, Grondman Inge, Gupta Manoj Kumar, Janssen Nico, Mourits Vera P, de Bree L Charlotte J, de Mast Quirijn, van de Veerdonk Frank L, Joosten Leo A B, Li Yang, Netea Mihai G, Xu Cheng-Ji |
| 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 |
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.
Journal of thrombosis and haemostasis : JTH 2022 3 20 (6): 1331-1349. Temprano-Sagrera Gerard, Sitlani Colleen M, Bone William P, Martin-Bornez Miguel, Voight Benjamin F, Morrison Alanna C, Damrauer Scott M, de Vries Paul S, Smith Nicholas L, Sabater-Lleal Mar |
| 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 |
| Genetic Variation in ADAMTS13 is Related to VWF Levels, Atrial Fibrillation and Cerebral Ischemic Events. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2022 28 10760296221141893. Warlo Ellen M K, Bratseth Vibeke, Pettersen Alf-Åge R, Holme Pål Andre, Arnesen Harald, Seljeflot Ingebjørg, Opstad Trine |
| Clinical and genetic determinants of the fatty liver-coagulation balance interplay in individuals with metabolic dysfunction. JHEP reports : innovation in hepatology 2022 10 4 (12): 100598. Valenti Luca, Tripodi Armando, La Mura Vincenzo, Pelusi Serena, Bianco Cristiana, Scalambrino Erica, Margarita Sara, Malvestiti Francesco, Ronzoni Luisa, Clerici Marigrazia, D'Ambrosio Roberta, Fraquelli Mirella, Carpani Rossana, Prati Daniele, Peyvandi Flo |
| 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 |
| Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.
Blood advances 2022 11 . Garrett Melanie E, Soldano Karen L, Erwin Kyle N, Zhang Yingze, Gordeuk Victor R, Gladwin Mark T, Telen Marilyn J, Ashley-Koch Allison |
| Integrative analysis of cuproptosis-associated genes for predicting immunotherapy response in single-cell and multi-cohort studies. The journal of gene medicine 2023 9 e3600. Hua Li, Yichen Wang, Guangxiao Li, Jian Xiong, Lingshan Qin, Qirong Wen, Chaomin Y |
| Comorbid association of obstructive sleep apnea (OSA) and thrombotic primary antiphospholipid syndrome (tPAPS): A more severe phenotype? Clinical immunology (Orlando, Fla.) 2023 9 256 109781. Gustavo Guimarães Moreira Balbi, Flavio Signorelli, Ana Paula Gandara, Indira Azam, Silvana de Barros, Dilson Marreiros, Pedro Rodrigues Genta, Paulo Andrade Lotufo, Isabela M Benseñor, Luciano F Drager, Danieli Andra |
| Association of Genetic and Allelic Variants of Von Willebrand Factor (VWF), Glutathione S-Transferase and Tumor Necrosis Factor Alpha with Ischemic Stroke Susceptibility and Progression in the Saudi Population. Life (Basel, Switzerland) 2023 5 13 (5): . Mohammed M Jalal, Rashid Mir, Abdullah Hamadi, Malik A Altayar, Imadeldin Elfaki, Jameel Barnawi, Almohanad A Alkayyal, Mouminah Amr, Jabali Hadeel, Mamdoh S Moawadh, Basim S O Alsaedi, Marwan H Alhelali, Aadil Yous |
| 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 |
| Focused panel sequencing points to genetic predisposition in non-cirrhotic intrahepatic portal hypertension patients in India. Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology 2023 10 . Rekha Aaron, Kalpana Premkumar, Aaron Chapla, B Vijayalekshmi, Uday Zachariah, Elwyn Elias, Thomas Alex Kodiatte, Dolly Daniel, John Jude, K A Balasubramanian, Sukesh C Nair, Nihal Thomas, Banumathi Ramakrishna, C E Eapen, Ashish Go |
| 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, |
| Systematic Review of Genetic Modifiers Associated with the Development and/or Progression of Nephropathy in Patients with Sickle Cell Disease. International journal of molecular sciences 2024 5 25 (10): . Veerle Labarque, Emmanuel Chide Okocha, |
| Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients. Annals of hematology 2024 12 . Jie Wang, Qiang Li, Yan Cheng, Aihui Wang, Cuicui Qiao, Jingru Shao, Tiantian Wang, Hehe Wang, Xueqin Zhang, Man-Chiu Poon, Xinsheng Zhang, Yunhai Fa |
- Page last reviewed:Feb 1, 2024
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