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: C788Y

PubMed Link: 35192687

Variant Present in the following documents:

• advancesADV2021005431C-suppl1.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: VWF: C788Y

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3
• 12859_2015_673_MOESM2_ESM.xls, sheet 1

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Solution structure of the major factor VIII binding region on von Willebrand factor.

Blood

Shiltagh, Nuha N; Kirkpatrick, John J; Cabrita, Lisa D LD; McKinnon, Tom A J TA; Thalassinos, Konstantinos K; Tuddenham, Edward G D EG; Hansen, D Flemming DF

Publication Date: 2014-06-26

Variant appearance in text: VWF: C788Y

PubMed Link: 24700780

Variant Present in the following documents:

• Main text

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A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.

Haematologica

Casonato, Alessandra A; Daidone, Viviana V; Barbon, Giovanni G; Pontara, Elena E; Di Pasquale, Irene I; Gallinaro, Lisa L; Marullo, Letizia L; Bertorelle, Giorgio G

Publication Date: 2013-01

Variant appearance in text: VWF: C788Y

PubMed Link: 22875612

Variant Present in the following documents:

• Main text

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