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: Cys1130Phe

PubMed Link: 35452508

Variant Present in the following documents:

• Main text
• advancesADV2022007216.pdf

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Novel cysteine substitution p.(Cys1084Tyr) causes variable expressivity of qualitative and quantitative VWF defects.

Blood Advances

Rawley, Orla O; Swystun, Laura L LL; Brown, Christine C; Nesbitt, Kate K; Rand, Margaret M; Hossain, Taneya T; Klaassen, Robert R; James, Paula D PD; Carcao, Manuel D MD; Lillicrap, David D

Publication Date: 2022-05-10

Variant appearance in text: VWF: Cys1130Phe

PubMed Link: 35020809

Variant Present in the following documents:

• Main text
• advancesADV2021005928.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: 3389G>T; Cys1130Phe

PubMed Link: 32827758

Variant Present in the following documents:

• mmc12.xlsx, sheet 1

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New advances in the diagnosis of von Willebrand disease.

Hematology. American Society Of Hematology. Education Program

Sharma, Ruchika R; Haberichter, Sandra L SL

Publication Date: 2019-12-06

Variant appearance in text: VWF: 3389G>T; Cys1130Phe

PubMed Link: 31808831

Variant Present in the following documents:

• Main text

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Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

Annals Of Laboratory Medicine

Kim, Hee Jung HJ; Kim, Soon Ki SK; Yoo, Ki Young KY; Lee, Ki O KO; Yun, Jae Won JW; Kim, Sun Hee SH; Kim, Hee Jin HJ; Park, Sang Kyu SK

Publication Date: 2019-11

Variant appearance in text: VWF: C1130F

PubMed Link: 31240882

Variant Present in the following documents:

• Main text
• alm-39-545.pdf

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Pregnancy and delivery in women with von Willebrand disease.

European Journal Of Haematology

Castaman, Giancarlo G; James, Paula D PD

Publication Date: 2019-08

Variant appearance in text: VWF: C1130F

PubMed Link: 31107984

Variant Present in the following documents:

• Main text

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Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA.

Haematologica

Borràs, Nina N; Orriols, Gerard G; Batlle, Javier J; Pérez-Rodríguez, Almudena A; Fidalgo, Teresa T; Martinho, Patricia P; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Parra, Rafael R; Altisent, Carme C; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Mingot-Castellano, María Eva ME; Navarro, Nira N; Pérez-Montes, Rocío R; Marcellin, Sally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández-Mosteirín, Núria N; Jiménez-Yuste, Víctor V; Alonso, Nieves N; de Andrés-Jacob, Aurora A; Fontanes, Emilia E; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Ruben R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Quismondo, Nerea Castro NC; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Jesús María JM; Ferreiro, María M; García-Frade, Javier J; Rodríguez-Huerta, Ana María AM; Cuesta, Jorge J; Rodríguez-González, Ramón R; García-Candel, Faustino F; Dobón, Manuela M; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2019-03

Variant appearance in text: VWF: Cys1130Phe

PubMed Link: 30361419

Variant Present in the following documents:

• Main text
• 1040587.pdf

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Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers.

Research And Practice In Thrombosis And Haemostasis

Bowyer, Annette E AE; Goodfellow, Karen J KJ; Seidel, Holger H; Westhofen, Philipp P; Stufano, Francesca F; Goodeve, Anne A; Kitchen, Stephen S; Makris, Michael M

Publication Date: 2018-10

Variant appearance in text: VWF: C1130F

PubMed Link: 30349898

Variant Present in the following documents:

• Main text

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New treatment approaches to von Willebrand disease.

Hematology. American Society Of Hematology. Education Program

Lavin, Michelle M; O'Donnell, James S JS

Publication Date: 2016-12-02

Variant appearance in text: VWF: C1130F

PubMed Link: 27913547

Variant Present in the following documents:

• Main text

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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: C1130F

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

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Changes of von Willebrand Factor during Pregnancy in Women with and without von Willebrand Disease.

Mediterranean Journal Of Hematology And Infectious Diseases

Castaman, Giancarlo G

Publication Date: 2013

Variant appearance in text: VWF: C1130F

PubMed Link: 23936623

Variant Present in the following documents:

• Main text
• mjhid-5-1-e2013052.pdf

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VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease.

Blood

Eikenboom, Jeroen J; Federici, Augusto B AB; Dirven, Richard J RJ; Castaman, Giancarlo G; Rodeghiero, Francesco F; Budde, Ulrich U; Schneppenheim, Reinhard R; Batlle, Javier J; Canciani, Maria Teresa MT; Goudemand, Jenny J; Peake, Ian I; Goodeve, Anne A; ,

Publication Date: 2013-03-21

Variant appearance in text: VWF: C1130F

PubMed Link: 23349392

Variant Present in the following documents:

• Main text

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von Willebrand factor: at the crossroads of bleeding and thrombosis.

International Journal Of Hematology

Denis, Cécile V CV; Lenting, Peter J PJ

Publication Date: 2012-04

Variant appearance in text: VWF: Cys1130Phe

PubMed Link: 22477538

Variant Present in the following documents:

• Main text

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Biogenesis of Weibel-Palade bodies in von Willebrand's disease variants with impaired von Willebrand factor intrachain or interchain disulfide bond formation.

Haematologica

Wang, Jiong-Wei JW; Groeneveld, Dafna J DJ; Cosemans, Guy G; Dirven, Richard J RJ; Valentijn, Karine M KM; Voorberg, Jan J; Reitsma, Pieter H PH; Eikenboom, Jeroen J

Publication Date: 2012-06

Variant appearance in text: VWF: 3389G>T; Cys1130Phe

PubMed Link: 22207689

Variant Present in the following documents:

• Main text

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Reduced survival of type 2B von Willebrand factor, irrespective of large multimer representation or thrombocytopenia.

Haematologica

Casonato, Alessandra A; Gallinaro, Lisa L; Cattini, Maria Grazia MG; Pontara, Elena E; Padrini, Roberto R; Bertomoro, Antonella A; Daidone, Viviana V; Pagnan, Antonio A

Publication Date: 2010-08

Variant appearance in text: VWF: C1130F

PubMed Link: 20305138

Variant Present in the following documents:

• Main text

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Accelerated clearance alone explains ultra-large multimers in von Willebrand disease Vicenza.

Journal Of Thrombosis And Haemostasis : Jth

Gézsi, A A; Budde, U U; Deák, I I; Nagy, E E; Mohl, A A; Schlammadinger, A A; Boda, Z Z; Masszi, T T; Sadler, J E JE; Bodó, I I

Publication Date: 2010-06

Variant appearance in text: VWF: C1130F

PubMed Link: 20088930

Variant Present in the following documents:

• Main text

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Pregnancy and delivery in women with von Willebrand's disease and different von Willebrand factor mutations.

Haematologica

Castaman, Giancarlo G; Tosetto, Alberto A; Rodeghiero, Francesco F

Publication Date: 2010-06

Variant appearance in text: VWF: C1130F

PubMed Link: 19951969

Variant Present in the following documents:

• Main text

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Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine

Torres, Richard R; Fedoriw, Yuri Y

Publication Date: 2009-06

Variant appearance in text: VWF: C1130F

PubMed Link: 19665675

Variant Present in the following documents:

• Main text

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Identification of type 1 von Willebrand disease patients with reduced von Willebrand factor survival by assay of the VWF propeptide in the European study: molecular and clinical markers for the diagnosis and management of type 1 VWD (MCMDM-1VWD).

Blood

Haberichter, Sandra L SL; Castaman, Giancarlo G; Budde, Ulrich U; Peake, Ian I; Goodeve, Anne A; Rodeghiero, Francesco F; Federici, Augusto B AB; Batlle, Javier J; Meyer, Dominique D; Mazurier, Claudine C; Goudemand, Jenny J; Eikenboom, Jeroen J; Schneppenheim, Reinhard R; Ingerslev, Jorgen J; Vorlova, Zdena Z; Habart, David D; Holmberg, Lars L; Lethagen, Stefan S; Pasi, John J; Hill, Frank G H FG; Montgomery, Robert R RR

Publication Date: 2008-05-15

Variant appearance in text: VWF: C1130F

PubMed Link: 18344424

Variant Present in the following documents:

• Main text

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Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.

Blood

Haberichter, Sandra L SL; Balistreri, Michael M; Christopherson, Pamela P; Morateck, Patricia P; Gavazova, Stefana S; Bellissimo, Daniel B DB; Manco-Johnson, Marilyn J MJ; Gill, Joan Cox JC; Montgomery, Robert R RR

Publication Date: 2006-11-15

Variant appearance in text: VWF: C1130F

PubMed Link: 16835381

Variant Present in the following documents:

• Main text

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