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Select item 93037081.

The dominant p.Thr274Pro mutation in the von Willebrand factor propeptide causes the von Willebrand disease type 1 phenotype in two unrelated patients

Maria Teresa Pagliari, Luciano Baronciani, Chiara Cordiglieri, Paola Colpani, Giovanna Cozzi, Simona M. Siboni, Flora Peyvandi

Haemophilia. 2022 Mar; 28(2): 292–300. Published online 2022 Jan 22. doi: 10.1111/hae.14494

PMCID:: PMC9303708

Abstract Article PDF–4.9M

Select item 101655132.

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia

Faisal Mousa Alzahrani, Asma Abdulrazaq Al Faris, Saeed Sattar Shaikh, Fathelrahman Mahdi Hassan, Maryam Ahmed Aldossary, Osama Al Sultan, Nasreldin Elhadi, Sulaiman Salman Alabsi, Mohammed Alsahli, Layla Abdulmohsen Bashawri, Muzaheed Muzaheed, Anne Goodeve

J Med Life. 2023 Mar; 16(3): 428–433. doi: 10.25122/jml-2022-0276

PMCID:: PMC10165513

Abstract Article PDF–192K

Select item 65058643.

von Willebrand disease type 1 in Doberman Pinscher dogs: genotyping and prevalence of the mutation in the Buenos Aires region, Argentina

Julian A. Crespi, Laura S. Barrientos, Guillermo Giovambattista

J Vet Diagn Invest. 2018 Mar; 30(2): 310–314. Published online 2017 Dec 22. doi: 10.1177/1040638717750429

PMCID:: PMC6505864

Abstract Article PDF–765K

Select item 104487964.

Coexpression of factor VIII and factor von Willebrand variants in a woman with heavy menstrual bleeding

Alessandro Casini, Michal Yaron, Alexander Couzens, Pierre Fontana, Marguerite Neerman-Arbez

Blood Coagul Fibrinolysis. 2023 Jun; 34(4): 250–253. Published online 2023 Apr 4. doi: 10.1097/MBC.0000000000001217

PMCID:: PMC10448796

Abstract Article PDF–98K

Select item 88410735.

Disruption of the glomerular basement membrane associated with nutcracker syndrome and double inferior vena cava in Noonan syndrome: a case report

Ayumi Omori, Kan Katayama, Ryosuke Saiki, Satoru Masui, Kei Suzuki, Yoshinori Kanii, Kayo Tsujimoto, Shiro Nakamori, Tairo Kurita, Tomohiro Murata, Takahiro Inoue, Kaoru Dohi

BMC Nephrol. 2022; 23: 65. Published online 2022 Feb 12. doi: 10.1186/s12882-022-02671-4

PMCID:: PMC8841073

Abstract Article PDF–2.2M

Select item 39343716.

The molecular characterization of von Willebrand disease: Good in parts

P.D. James, D. Lillicrap

Br J Haematol. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Br J Haematol. 2013 Apr; 161(2): 166–176. Published online 2013 Feb 14. doi: 10.1111/bjh.12249

PMCID:: PMC3934371

Abstract Article PDF–1.6M

Select item 88011337.

Silent variant in F8:c.222G>T (p.Thr74Thr) causes a partial exon skipping in a patient with mild hemophilia A

Anna Letelier, Rolf Ljung, Anna Olsson, Nadine G. Andersson

Mol Genet Genomic Med. 2022 Jan; 10(1): e1856. Published online 2021 Dec 28. doi: 10.1002/mgg3.1856

PMCID:: PMC8801133

Abstract Article PDF–512K

Select item 83519008.

von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene

Brooke Sadler, Pamela A. Christopherson, Gabe Haller, Robert R. Montgomery, Jorge Di Paola

Blood. 2021 Jun 10; 137(23): 3277–3283. Prepublished online 2021 Feb 8. doi: 10.1182/blood.2020009999

Correction in:: Blood. 2022 Sep 15; 140(11): 1327.

PMCID:: PMC8351900

Abstract Article

Select item 45122349.

Evaluation of von Willebrand factor phenotypes and genotypes in Hemophilia A patients with and without identified F8 mutations

Brian Boylan, Anne S. Rice, Christine De Staercke, M. Elaine Eyster, Hassan M. Yaish, Christine M. Knoll, Christopher J. Bean, Connie H. Miller, the Hemophilia Inhibitor Research Study Investigators

J Thromb Haemost. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: J Thromb Haemost. 2015 Jun; 13(6): 1036–1042. Published online 2015 May 9. doi: 10.1111/jth.12902

PMCID:: PMC4512234

Abstract Article PDF–183K

Select item 498878110.

Diagnostic Value of Measuring Platelet Von Willebrand Factor in Von Willebrand Disease

Alessandra Casonato, Maria Grazia Cattini, Viviana Daidone, Elena Pontara, Antonella Bertomoro, Paolo Prandoni

PLoS One. 2016; 11(8): e0161310. Published online 2016 Aug 17. doi: 10.1371/journal.pone.0161310

PMCID:: PMC4988781

Abstract Article PDF–260K

Select item 614261011.

Advances in the diagnosis and treatment of Von Willebrand disease

Ruchika Sharma, Veronica H. Flood

Hematology Am Soc Hematol Educ Program. 2017 Dec 8; 2017(1): 379–384. doi: 10.1182/asheducation-2017.1.379

PMCID:: PMC6142610

Abstract Article PDF–620K

Select item 487422812.

Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States

Veronica H. Flood, Pamela A. Christopherson, Joan Cox Gill, Kenneth D. Friedman, Sandra L. Haberichter, Daniel B. Bellissimo, Rupa A. Udani, Mahua Dasgupta, Raymond G. Hoffmann, Margaret V. Ragni, Amy D. Shapiro, Jeanne M. Lusher, Steven R. Lentz, Thomas C. Abshire, Cindy Leissinger, W. Keith Hoots, Marilyn J. Manco-Johnson, Ralph A. Gruppo, Lisa N. Boggio, Kate T. Montgomery, Anne C. Goodeve, Paula D. James, David Lillicrap, Ian R. Peake, Robert R. Montgomery

Blood. 2016 May 19; 127(20): 2481–2488. Prepublished online 2016 Feb 9. doi: 10.1182/blood-2015-10-673681

PMCID:: PMC4874228

Abstract Article

Select item 1012591113.

A transcriptome analysis of basal and stimulated VWF release from endothelial cells derived from patients with type 1 VWD

Robert Kloosterman, Matteo Zago-Schmitt, Julie Grabell, Lisa Thibeault, Patricia A. De Lima, Mackenzie Bowman, Kathrin Tyryshkin, Charles C. T. Hindmarch, Neil Renwick, Paula James

Blood Adv. 2023 Apr 25; 7(8): 1477–1487. Published online 2022 Sep 21. doi: 10.1182/bloodadvances.2022007884

PMCID:: PMC10125911

Abstract Article PDF–3.6M

Select item 982140714.

Diagnostic pitfalls and conundrums in type 1 von Willebrand disease

Robert F. Sidonio, Michelle Lavin

Hematology Am Soc Hematol Educ Program. 2022 Dec 9; 2022(1): 618-623. Published online 2022 Dec 9. doi: 10.1182/hematology.2022000389

PMCID:: PMC9821407

Abstract Article PDF–198K

Select item 361763715.

Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells

Richard D. Starke, Koralia E. Paschalaki, Clare E. F. Dyer, Kimberly J. Harrison-Lavoie, Jacqueline A. Cutler, Thomas A. J. McKinnon, Carolyn M. Millar, Daniel F. Cutler, Mike A. Laffan, Anna M. Randi

Blood. 2013 Apr 4; 121(14): 2773–2784. Prepublished online 2013 Jan 25. doi: 10.1182/blood-2012-06-435727

PMCID:: PMC3617637

Abstract Article

Select item 496590816.

Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism

Lindsey Hawke, Mackenzie L. Bowman, Man-Chiu Poon, Mary-Frances Scully, Georges-Etienne Rivard, Paula D. James

Blood. 2016 Jul 28; 128(4): 584–593. Prepublished online 2016 Jun 17. doi: 10.1182/blood-2015-10-678052

PMCID:: PMC4965908

Abstract Article

Select item 364377117.

No increase in bleeding identified in type 1 VWD subjects with D1472H sequence variation

Veronica H. Flood, Kenneth D. Friedman, Joan Cox Gill, Sandra L. Haberichter, Pamela A. Christopherson, Brian R. Branchford, Raymond G. Hoffmann, Thomas C. Abshire, Amy L. Dunn, Jorge A. Di Paola, W. Keith Hoots, Deborah L. Brown, Cindy Leissinger, Jeanne M. Lusher, Margaret V. Ragni, Amy D. Shapiro, Robert R. Montgomery

Blood. 2013 May 2; 121(18): 3742–3744. Prepublished online 2013 Mar 21. doi: 10.1182/blood-2012-12-471672

PMCID:: PMC3643771

Abstract Article

Select item 298148418.

Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease

Maha Othman, Yvette Chirinian, Christine Brown, Colleen Notley, Nicholas Hickson, Daniel Hampshire, Suzanne Buckley, Simon Waddington, Alan L. Parker, Andrew Baker, Paula James, David Lillicrap

Blood. 2010 Nov 4; 116(18): 3645–3652. Prepublished online 2010 Aug 9. doi: 10.1182/blood-2009-12-261131

PMCID:: PMC2981484

Abstract Article

Select item 579414119.

Genetic variation in the C-type lectin receptor CLEC4M in type 1 von Willebrand Disease patients

Eric Manderstedt, Christina Lind-Halldén, Stefan Lethagen, Christer Halldén

PLoS One. 2018; 13(2): e0192024. Published online 2018 Feb 1. doi: 10.1371/journal.pone.0192024

PMCID:: PMC5794141

Abstract Article PDF–2.1M

Select item 672784320.

The Role of Genetics in the Pathogenesis and Diagnosis of Type 1 von Willebrand Disease

Veronica H Flood, Jessica Garcia, Sandra L. Haberichter

Curr Opin Hematol. Author manuscript; available in PMC 2020 Sep 1.

Published in final edited form as: Curr Opin Hematol. 2019 Sep; 26(5): 331–335. doi: 10.1097/MOH.0000000000000524

PMCID:: PMC6727843

Abstract Article PDF–115K

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