Publications:

Phenotypic and genetic characterizations of the Milan cohort of von Willebrand disease type 2.

Blood Advances

Seidizadeh, Omid O; Baronciani, Luciano L; Pagliari, Maria Teresa MT; Cozzi, Giovanna G; Colpani, Paola P; Cairo, Andrea A; Siboni, Simona Maria SM; Biguzzi, Eugenia E; Peyvandi, Flora F

Publication Date: 2022-07-12

Variant appearance in text: VWF: Leu1696Arg

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216.pdf

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.

Journal Of Thrombosis And Haemostasis : Jth

Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K

Publication Date: 2021-10

Variant appearance in text: VWF: 5087T>G; Leu1696Arg

PubMed Link: 34355501

Variant Present in the following documents:

• JTH-19-2612-s004.xlsx, sheet 1

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Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms.

Blood Advances

Cartwright, Ashley A; Webster, Simon J SJ; de Jong, Annika A; Dirven, Richard J RJ; Bloomer, Lisa D S LDS; Al-Buhairan, Ahlam M AM; Budde, Ulrich U; Halldén, Christer C; Habart, David D; Goudemand, Jenny J; Peake, Ian R IR; Eikenboom, Jeroen C J JCJ; Goodeve, Anne C AC; Hampshire, Daniel J DJ

Publication Date: 2020-07-14

Variant appearance in text: VWF: Leu1696Arg

PubMed Link: 32609846

Variant Present in the following documents:

• Main text

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A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Medicine

Veyradier, Agnès A; Boisseau, Pierre P; Fressinaud, Edith E; Caron, Claudine C; Ternisien, Catherine C; Giraud, Mathilde M; Zawadzki, Christophe C; Trossaert, Marc M; Itzhar-Baïkian, Nathalie N; Dreyfus, Marie M; d'Oiron, Roseline R; Borel-Derlon, Annie A; Susen, Sophie S; Bezieau, Stéphane S; Denis, Cécile V CV; Goudemand, Jenny J; ,

Publication Date: 2016-03

Variant appearance in text: VWF: Leu1696Arg

PubMed Link: 26986123

Variant Present in the following documents:

• Main text
• medi-95-e3038.pdf

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Von Willebrand Factor Abnormalities Studied in the Mouse Model: What We Learned about VWF Functions.

Mediterranean Journal Of Hematology And Infectious Diseases

Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cécile V CV

Publication Date: 2013

Variant appearance in text: VWF: L1696R

PubMed Link: 23936618

Variant Present in the following documents:

• Main text
• mjhid-5-1-e2013047.pdf

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