Publications:

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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: Cys1157Phe

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216.pdf

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The Manifold Cellular Functions of von Willebrand Factor.

Cells

Mojzisch, Angelika A; Brehm, Maria A MA

Publication Date: 2021-09-08

Variant appearance in text: VWF: Cys1157Phe

PubMed Link: 34572000

Variant Present in the following documents:

• Main text
• cells-10-02351.pdf

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The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Genomics, Proteomics & Bioinformatics

Sun, Jing J; Zhang, Yanfang Y; Wang, Minhui M; Guan, Qian Q; Yang, Xiujia X; Ou, Jin Xia JX; Yan, Mingchen M; Wang, Chengrui C; Zhang, Yan Y; Li, Zhi-Hao ZH; Lan, Chunhong C; Mao, Chen C; Zhou, Hong-Wei HW; Hao, Bingtao B; Zhang, Zhenhai Z

Publication Date: 2020-10

Variant appearance in text: VWF: 3470G>T; Cys1157Phe

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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Von Willebrand Disease: From In Vivo to In Vitro Disease Models.

Hemasphere

de Boer, Suzan S; Eikenboom, Jeroen J

Publication Date: 2019-10

Variant appearance in text: VWF: C1157F

PubMed Link: 31942548

Variant Present in the following documents:

• Main text
• hs9-3-e297.pdf

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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: Cys1157Phe

PubMed Link: 26986123

Variant Present in the following documents:

• Main text
• medi-95-e3038.pdf

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The molecular genetics of von Willebrand disease.

Turkish Journal Of Haematology : Official Journal Of Turkish Society Of Haematology

Berber, Ergül E

Publication Date: 2012-12

Variant appearance in text: VWF: C1157F

PubMed Link: 24385719

Variant Present in the following documents:

• TJH-29-313.pdf

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Functional architecture of Weibel-Palade bodies.

Blood

Valentijn, Karine M KM; Sadler, J Evan JE; Valentijn, Jack A JA; Voorberg, Jan J; Eikenboom, Jeroen J

Publication Date: 2011-05-12

Variant appearance in text: VWF: Cys1157Phe

PubMed Link: 21266719

Variant Present in the following documents:

• Main text

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Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage.

Journal Of Thrombosis And Haemostasis : Jth

Haberichter, S L SL; Allmann, A M AM; Jozwiak, M A MA; Montgomery, R R RR; Gill, J C JC

Publication Date: 2009-04

Variant appearance in text: VWF: C1157F

PubMed Link: 19192112

Variant Present in the following documents:

• Main text

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