Publications:

Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances

Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA

Publication Date: 2022-06-28

Variant appearance in text: VWF: C524Y

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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Cryptic non-canonical splice site activation is part of the mechanism that abolishes multimer organization in the c.2269_2270del von Willebrand factor.

Haematologica

Daidone, Viviana V; Galletta, Eva E; De Marco, Luigi L; Casonato, Alessandra A

Publication Date: 2020-04

Variant appearance in text: VWF: C524Y

PubMed Link: 31320553

Variant Present in the following documents:

• 1051120.pdf

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

Plos One

Casonato, Alessandra A; Cattini, Maria Grazia MG; Daidone, Viviana V; Pontara, Elena E; Bertomoro, Antonella A; Prandoni, Paolo P

Publication Date: 2016

Variant appearance in text: VWF: C524Y

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

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Collagen binding provides a sensitive screen for variant von Willebrand disease.

Clinical Chemistry

Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Christopherson, Pamela A PA; Jacobi, Paula M PM; Hoffmann, Raymond G RG; Montgomery, Robert R RR; Haberichter, Sandra L SL; ,

Publication Date: 2013-04

Variant appearance in text: VWF: C524Y

PubMed Link: 23340442

Variant Present in the following documents:

• Main text

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