Publications:

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The landscape of tolerated genetic variation in humans and primates.

Biorxiv : The Preprint Server For Biology

Gao, Hong H; Hamp, Tobias T; Ede, Jeffrey J; Schraiber, Joshua G JG; McRae, Jeremy J; Singer-Berk, Moriel M; Yang, Yanshen Y; Dietrich, Anastasia A; Fiziev, Petko P; Kuderna, Lukas L; Sundaram, Laksshman L; Wu, Yibing Y; Adhikari, Aashish A; Field, Yair Y; Chen, Chen C; Batzoglou, Serafim S; Aguet, Francois F; Lemire, Gabrielle G; Reimers, Rebecca R; Balick, Daniel D; Janiak, Mareike C MC; Kuhlwilm, Martin M; Orkin, Joseph D JD; Manu, Shivakumara S; Valenzuela, Alejandro A; Bergman, Juraj J; Rouselle, Marjolaine M; Silva, Felipe Ennes FE; Agueda, Lidia L; Blanc, Julie J; Gut, Marta M; de Vries, Dorien D; Goodhead, Ian I; Harris, R Alan RA; Raveendran, Muthuswamy M; Jensen, Axel A; Chuma, Idriss S IS; Horvath, Julie J; Hvilsom, Christina C; Juan, David D; Frandsen, Peter P; de Melo, Fabiano R FR; Bertuol, Fabricio F; Byrne, Hazel H; Sampaio, Iracilda I; Farias, Izeni I; Valsecchi do Amaral, João J; Messias, Mariluce M; da Silva, Maria N F MNF; Trivedi, Mihir M; Rossi, Rogerio R; Hrbek, Tomas T; Andriaholinirina, Nicole N; Rabarivola, Clément J CJ; Zaramody, Alphonse A; Jolly, Clifford J CJ; Phillips-Conroy, Jane J; Wilkerson, Gregory G; Abee, Christian C; Simmons, Joe H JH; Fernandez-Duque, Eduardo E; Kanthaswamy, Ee E; Shiferaw, Fekadu F; Wu, Dongdong D; Zhou, Long L; Shao, Yong Y; Zhang, Guojie G; Keyyu, Julius D JD; Knauf, Sascha S; Le, Minh D MD; Lizano, Esther E; Merker, Stefan S; Navarro, Arcadi A; Batallion, Thomas T; Nadler, Tilo T; Khor, Chiea Chuen CC; Lee, Jessica J; Tan, Patrick P; Lim, Weng Khong WK; Kitchener, Andrew C AC; Zinner, Dietmar D; Gut, Ivo I; Melin, Amanda A; Guschanski, Katerina K; Schierup, Mikkel Heide MH; Beck, Robin M D RMD; Umapathy, Govindhaswamy G; Roos, Christian C; Boubli, Jean P JP; Lek, Monkol M; Sunyaev, Shamil S; O'Donnell, Anne A; Rehm, Heidi H; Xu, Jinbo J; Rogers, Jeffrey J; Marques-Bonet, Tomas T; Farh, Kyle Kai-How KK

Publication Date: 2023-05-02

Variant appearance in text: VWF: 3614G>A; Arg1205His

PubMed Link: 37205491

Variant Present in the following documents:

• media-2.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: VWF: 3614G>A; Arg1205His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Macrophage Galactose Lectin Contributes to the Regulation of FVIII (Factor VIII) Clearance in Mice.

Arteriosclerosis, Thrombosis, And Vascular Biology

Ward, Soracha E SE; Guest, Thomas T; Byrne, Ciara C; Lopes, Patricia P; O'Sullivan, Jamie M JM; Doherty, Dearbhla D; O'Connell, David D; Gutierrez Llaneza, Sara S; Chion, Alain A; Fazavana, Judicael J; Fallon, Padraic G PG; Preston, Roger J S RJS; Johnsen, Jill M JM; Pipe, Steven W SW; Turecek, Peter L PL; O'Donnell, James S JS; ,

Publication Date: 2023-02-02

Variant appearance in text: VWF: R1205H

PubMed Link: 36727518

Variant Present in the following documents:

• atv-43-540.pdf

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Origin and timing of de novo variants implicated in type 2 von Willebrand disease.

Journal Of Cellular And Molecular Medicine

Chen, Ming M; Shen, Ming-Ching MC; Chang, Shun-Ping SP; Ma, Gwo-Chin GC; Huang, Ying-Chih YC; Lin, Ching-Yeh CY

Publication Date: 2022-11

Variant appearance in text: VWF: R1205H

PubMed Link: 36226571

Variant Present in the following documents:

• JCMM-26-5403.pdf

View BVdb publication page

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Von Willebrand disease type Vicenza: In search of a classification for the archetype of reduced von Willebrand factor survival.

Ejhaem

Casonato, Alessandra A; Galletta, Eva E; Galvanin, Federico F; Daidone, Viviana V

Publication Date: 2021-08

Variant appearance in text: VWF: R1205H

PubMed Link: 35844701

Variant Present in the following documents:

• Main text
• JHA2-2-340.pdf

View BVdb publication page

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Identification of von Willebrand factor D4 domain mutations in patients of Afro-Caribbean descent: In vitro characterization.

Research And Practice In Thrombosis And Haemostasis

Dubois, Marie-Daniéla MD; Peyron, Ivan I; Pierre-Louis, Olivier-Nicolas ON; Pierre-Louis, Serge S; Rabout, Johalène J; Boisseau, Pierre P; de Jong, Annika A; Susen, Sophie S; Goudemand, Jenny J; Neviere, Rémi R; Fuseau, Pascal P; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C

Publication Date: 2022-05

Variant appearance in text: VWF: R1205H

PubMed Link: 35734101

Variant Present in the following documents:

• RTH2-6-e12737.pdf

View BVdb publication page

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The p.P1127S pathogenic variant lowers von Willebrand factor levels through higher affinity for the macrophagic scavenger receptor LRP1: Clinical phenotype and pathogenic mechanisms.

Journal Of Thrombosis And Haemostasis : Jth

Sacco, Monica M; Lancellotti, Stefano S; Branchini, Alessio A; Tardugno, Maira M; Testa, Maria Francesca MF; Lunghi, Barbara B; Bernardi, Francesco F; Pinotti, Mirko M; Giusti, Betti B; Castaman, Giancarlo G; De Cristofaro, Raimondo R

Publication Date: 2022-08

Variant appearance in text: VWF: R1205H

PubMed Link: 35596664

Variant Present in the following documents:

• Main text
• JTH-20-1818.pdf

View BVdb publication page

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Enhanced VWF clearance in Low VWF pathogenesis - limitations of VWFpp/VWF:Ag ratio and clinical significance.

Blood Advances

Doherty, Dearbhla D; Lavin, Michelle M; Byrne, Mary B MB; Nolan, Margaret M; O'Sullivan, Jamie M JM; Ryan, Kevin K; O'Connell, Niamh M NM; Haberichter, Sandra L SL; Christopherson, Pamela P; Di Paola, Jorge J; James, Paula D PD; O'Donnell, James S JS

Publication Date: 2022-05-06

Variant appearance in text: VWF: R1205H

PubMed Link: 35523118

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Desmopressin response depends on the presence and type of genetic variants in patients with type 1 and type 2 von Willebrand disease.

Blood Advances

Atiq, Ferdows F; Heijdra, Jessica J; Snijders, Fleur F; Boender, Johan J; Kempers, Eva E; van Heerde, Waander L WL; Maas, Dominique P M S M DPMSM; Krouwel, Sandy S; Schoormans, Selene C SC; de Meris, Joke J; Schols, Saskia E M SEM; van Galen, Karin P M KPM; van der Bom, Johanna G JG; Cnossen, Marjon H MH; Meijer, Karina K; Fijnvandraat, Karin K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2022-09-27

Variant appearance in text: VWF: R1205H

PubMed Link: 35446929

Variant Present in the following documents:

• Main text
• advancesADV2021006757.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: R1205H

PubMed Link: 35020809

Variant Present in the following documents:

• advancesADV2021005928.pdf

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[ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Xue, F F; Yang, R C RC

Publication Date: 2021-05-14

Variant appearance in text: VWF: R1205H

PubMed Link: 34218576

Variant Present in the following documents:

• cjh-42-05-358.pdf

View BVdb publication page

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: VWF: 3614G>A; Arg1205His

PubMed Link: 33807613

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sialylation on O-linked glycans protects von Willebrand factor from macrophage galactose lectin-mediated clearance.

Haematologica

Ward, Soracha E SE; O'Sullivan, Jamie M JM; Moran, Alan B AB; Spencer, Daniel I R DIR; Gardner, Richard A RA; Sharma, Jyotika J; Fazavana, Judicael J; Monopoli, Marco M; McKinnon, Thomas A J TAJ; Chion, Alain A; Haberichter, Sandra S; O'Donnell, James S JS

Publication Date: 2022-03-01

Variant appearance in text: VWF: R1205H

PubMed Link: 33763999

Variant Present in the following documents:

• Main text
• 107668.pdf
• 2020_274720_WARD_SUPPL.pdf

View BVdb publication page

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Von Willebrand Factor Multimer Densitometric Analysis: Validation of the Clinical Accuracy and Clinical Implications in Von Willebrand Disease.

Hemasphere

Boender, Johan J; Atiq, Ferdows F; Cnossen, Marjon H MH; van der Bom, Johanna G JG; Fijnvandraat, Karin K; de Meris, Joke J; de Maat, Moniek P M MPM; van Galen, Karin P M KPM; Laros-van Gorkom, Britta A P BAP; Meijer, Karina K; Eikenboom, Jeroen J; Leebeek, Frank W G FWG

Publication Date: 2021-03

Variant appearance in text: VWF: R1205H

PubMed Link: 33623884

Variant Present in the following documents:

• Main text
• hs9-5-e542.pdf

View BVdb publication page

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Molecular coevolution of coagulation factor VIII and von Willebrand factor.

Blood Advances

Zakas, Philip M PM; Coyle, Christopher W CW; Brehm, Anja A; Bayer, Marion M; Solecka-Witulska, Barbara B; Radford, Caelan E CE; Brown, Christine C; Nesbitt, Kate K; Dwyer, Courtney C; Kannicht, Christoph C; Spencer, H Trent HT; Gaucher, Eric A EA; Doering, Christopher B CB; Lillicrap, David D

Publication Date: 2021-02-09

Variant appearance in text: VWF: R1205H

PubMed Link: 33560395

Variant Present in the following documents:

• Main text

View BVdb publication page

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Development of a dual hybrid AAV vector for endothelial-targeted expression of von Willebrand factor.

Gene Therapy

Barbon, Elena E; Kawecki, Charlotte C; Marmier, Solenne S; Sakkal, Aboud A; Collaud, Fanny F; Charles, Severine S; Ronzitti, Giuseppe G; Casari, Caterina C; Christophe, Olivier D OD; Denis, Cécile V CV; Lenting, Peter J PJ; Mingozzi, Federico F

Publication Date: 2021-01-17

Variant appearance in text: VWF: R1205H

PubMed Link: 33456057

Variant Present in the following documents:

• 41434_2020_Article_218.pdf

View BVdb publication page

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Multimerin 1 supports platelet function in vivo and binds to specific GPAGPOGPX motifs in fibrillar collagens that enhance platelet adhesion.

Journal Of Thrombosis And Haemostasis : Jth

Leatherdale, Alexander A; Parker, D'Andra D; Tasneem, Subia S; Wang, Yiming Y; Bihan, Dominique D; Bonna, Arkadiusz A; Hamaia, Samir W SW; Gross, Peter L PL; Ni, Heyu H; Doble, Bradley W BW; Lillicrap, David D; Farndale, Richard W RW; Hayward, Catherine P M CPM

Publication Date: 2021-02

Variant appearance in text: VWF: R1205H

PubMed Link: 33179420

Variant Present in the following documents:

• JTH-19-547.pdf

View BVdb publication page

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Improving diagnosis of von Willebrand disease: Reference ranges for von Willebrand factor multimer distribution.

Research And Practice In Thrombosis And Haemostasis

Vangenechten, Inge I; Gadisseur, Alain A

Publication Date: 2020-08

Variant appearance in text: VWF: Arg1205His

PubMed Link: 32864553

Variant Present in the following documents:

• RTH2-4-1024-s004.xlsx, sheet 1

View BVdb publication page

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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: Arg1205His

PubMed Link: 32609846

Variant Present in the following documents:

• Main text

View BVdb publication page

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Biological mechanisms underlying inter-individual variation in factor VIII clearance in haemophilia.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Turecek, Peter L PL; Johnsen, Jill M JM; Pipe, Steven W SW; O'Donnell, James S JS; ,

Publication Date: 2020-07

Variant appearance in text: VWF: R1205H

PubMed Link: 32596930

Variant Present in the following documents:

• HAE-26-575.pdf

View BVdb publication page

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Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

Journal Of Thrombosis And Haemostasis : Jth

Szederjesi, Attila A; Baronciani, Luciano L; Budde, Ulrich U; Castaman, Giancarlo G; Colpani, Paola P; Lawrie, Andrew S AS; Liu, Yuan Y; Montgomery, Robert R; Peyvandi, Flora F; Schneppenheim, Reinhard R; Patzke, Jürgen J; Bodó, Imre I

Publication Date: 2020-10

Variant appearance in text: VWF: R1205H

PubMed Link: 32573891

Variant Present in the following documents:

• Main text

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: VWF: 3614G>A; Arg1205His

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

View BVdb publication page

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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: 3614G>A; R1205H

PubMed Link: 31240882

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R1205H

PubMed Link: 31107984

Variant Present in the following documents:

• Main text

View BVdb publication page

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Shear stress and platelet-induced tensile forces regulate ADAMTS13-localization within the platelet thrombus.

Research And Practice In Thrombosis And Haemostasis

Shida, Yasuaki Y; Swystun, Laura L LL; Brown, Christine C; Mewburn, Jeffrey J; Nesbitt, Kate K; Danisment, Ozge O; Riches, Jonathan Jacob JJ; Hough, Christine C; Lillicrap, David D

Publication Date: 2019-04

Variant appearance in text: VWF: R1205H

PubMed Link: 31011709

Variant Present in the following documents:

• RTH2-3-254.pdf

View BVdb publication page

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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: R1205H

PubMed Link: 30349898

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common VWF sequence variants associated with higher VWF and FVIII are less frequent in subjects diagnosed with type 1 VWD.

Research And Practice In Thrombosis And Haemostasis

Flood, Veronica H VH; Johnsen, Jill M JM; Kochelek, Caroline C; Slobodianuk, Tricia L TL; Christopherson, Pamela A PA; Haberichter, Sandra L SL; Udani, Rupa R; Bellissimo, Daniel B DB; Friedman, Kenneth D KD; Montgomery, Robert R RR

Publication Date: 2018-04

Variant appearance in text: VWF: R1205H

PubMed Link: 30046743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Combined effects of two mutations in von Willebrand disease 2M phenotype.

Research And Practice In Thrombosis And Haemostasis

Woods, Adriana I AI; Paiva, Juvenal J; Kempfer, Ana C AC; Primrose, Debora M DM; Blanco, Alicia N AN; Sanchez-Luceros, Analía A; Lazzari, María A MA

Publication Date: 2018-01

Variant appearance in text: VWF: R1205H

PubMed Link: 30046717

Variant Present in the following documents:

• RTH2-2-162.pdf

View BVdb publication page

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Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project.

Plos One

Pérez-Rodríguez, Almudena A; Batlle, Javier J; Corrales, Irene I; Borràs, Nina N; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Navarro, Nira N; Altisent, Carmen C; Pérez-Montes, Rocío R; Marcellini, Shally S; Moreto, Ana A; Herrero, Sonia S; Soto, Inmaculada I; Fernández Mosteirín, Nuria 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, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Castro Quismondo, Nerea N; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; Tenorio, Maria M; 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; Batlle, Fernando F; Vidal, Francisco F; López-Fernández, María Fernanda MF

Publication Date: 2018

Variant appearance in text: VWF: Arg1205His

PubMed Link: 29924855

Variant Present in the following documents:

• Main text
• pone.0197876.s002.pdf
• pone.0197876.pdf

View BVdb publication page

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Macrophage scavenger receptor SR-AI contributes to the clearance of von Willebrand factor.

Haematologica

Wohner, Nikolett N; Muczynski, Vincent V; Mohamadi, Amel A; Legendre, Paulette P; Proulle, Valérie V; Aymé, Gabriel G; Christophe, Olivier D OD; Lenting, Peter J PJ; Denis, Cécile V CV; Casari, Caterina C

Publication Date: 2018-04

Variant appearance in text: VWF: R1205H

PubMed Link: 29326120

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.

Haematologica

Borràs, Nina N; Batlle, Javier J; Pérez-Rodríguez, Almudena A; López-Fernández, María Fernanda MF; Rodríguez-Trillo, Ángela Á; Lourés, Esther E; Cid, Ana Rosa AR; Bonanad, Santiago S; Cabrera, Noelia N; Moret, Andrés A; Parra, Rafael R; Mingot-Castellano, María Eva ME; Balda, Ignacia I; Altisent, Carme C; Pérez-Montes, Rocío R; Fisac, Rosa María RM; Iruín, Gemma G; Herrero, Sonia S; Soto, Inmaculada I; de Rueda, Beatriz B; Jiménez-Yuste, Víctor V; Alonso, Nieves N; Vilariño, Dolores D; Arija, Olga O; Campos, Rosa R; Paloma, María José MJ; Bermejo, Nuria N; Berrueco, Rubén R; Mateo, José J; Arribalzaga, Karmele K; Marco, Pascual P; Palomo, Ángeles Á; Sarmiento, Lizheidy L; Iñigo, Belén B; Nieto, María Del Mar MDM; Vidal, Rosa R; Martínez, María Paz MP; Aguinaco, Reyes R; César, 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; Cornudella, Rosa R; Aguilar, Carlos C; Vidal, Francisco F; Corrales, Irene I

Publication Date: 2017-12

Variant appearance in text: VWF: Arg1205His

PubMed Link: 28971901

Variant Present in the following documents:

• Main text
• 2017.168765.BORRAS_SUPPL.pdf
• 1022005.pdf

View BVdb publication page

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[Detection and analysis of plasma VWF levels in healthy Chinese by automatic standardized assay].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Zhang, P P; Yu, Z Q ZQ; Zhang, X H XH; Zhang, W W; Bai, X X; Cao, L J LJ; Su, J J; Sha, P P PP; Wang, Z Y ZY; Ruan, C G CG

Publication Date: 2017-02-14

Variant appearance in text: VWF: R1205H

PubMed Link: 28279040

Variant Present in the following documents:

• cjh-38-02-146.pdf

View BVdb publication page

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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: R1205H

PubMed Link: 27913547

Variant Present in the following documents:

• Main text

View BVdb publication page

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Diagnosing von Willebrand disease: genetic analysis.

Hematology. American Society Of Hematology. Education Program

Goodeve, Anne A

Publication Date: 2016-12-02

Variant appearance in text: VWF: Arg1205His

PubMed Link: 27913546

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: R1205H

PubMed Link: 27532107

Variant Present in the following documents:

• Main text
• pone.0161310.pdf

View BVdb publication page

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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: Arg1205His

PubMed Link: 26986123

Variant Present in the following documents:

• Main text
• medi-95-e3038.pdf

View BVdb publication page

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Mutations driving CLL and their evolution in progression and relapse.

Nature

Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ

Publication Date: 2015-10-22

Variant appearance in text: VWF: 3614G>A; R1205H

PubMed Link: 26466571

Variant Present in the following documents:

• NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1

View BVdb publication page

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[The research progress of Von Willebrand disease].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Yin, Jie J; Ruan, Changgeng C

Publication Date: 2015-07

Variant appearance in text: VWF: R1205H

PubMed Link: 26304092

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• cjh-36-07-616.pdf

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Molecular and clinical predictors of inhibitor risk and its prevention and treatment in mild hemophilia A.

Blood

Castaman, Giancarlo G; Fijnvandraat, Karin K

Publication Date: 2014-10-09

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PubMed Link: 25139352

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The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology.

British Journal Of Haematology

Laffan, Mike A MA; Lester, Will W; O'Donnell, James S JS; Will, Andrew A; Tait, Robert Campbell RC; Goodeve, Anne A; Millar, Carolyn M CM; Keeling, David M DM

Publication Date: 2014-11

Variant appearance in text: VWF: R1205H

PubMed Link: 25113304

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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: R1205H

PubMed Link: 24385719

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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: R1205H

PubMed Link: 23936623

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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: R1205H

PubMed Link: 23936618

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• Main text
• mjhid-5-1-e2013047.pdf

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The molecular characterization of von Willebrand disease: good in parts.

British Journal Of Haematology

James, P D PD; Lillicrap, D D

Publication Date: 2013-04

Variant appearance in text: VWF: R1205H

PubMed Link: 23406206

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Characterizing polymorphisms and allelic diversity of von Willebrand factor gene in the 1000 Genomes.

Journal Of Thrombosis And Haemostasis : Jth

Wang, Q Y QY; Song, J J; Gibbs, R A RA; Boerwinkle, E E; Dong, J F JF; Yu, F L FL

Publication Date: 2013-02

Variant appearance in text: VWF: R1205H

PubMed Link: 23216583

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In vivo analysis of the role of O-glycosylations of von Willebrand factor.

Plos One

Badirou, Idinath I; Kurdi, Mohamad M; Legendre, Paulette P; Rayes, Julie J; Bryckaert, Marijke M; Casari, Caterina C; Lenting, Peter J PJ; Christophe, Olivier D OD; Denis, Cecile V CV

Publication Date: 2012

Variant appearance in text: VWF: R1205H

PubMed Link: 22616016

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• pone.0037508.pdf

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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: Arg1205His

PubMed Link: 22477538

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von Willebrand factor (VWF) propeptide binding to VWF D'D3 domain attenuates platelet activation and adhesion.

Blood

Madabhushi, Sri R SR; Shang, Chengwei C; Dayananda, Kannayakanahalli M KM; Rittenhouse-Olson, Kate K; Murphy, Mary M; Ryan, Thomas E TE; Montgomery, Robert R RR; Neelamegham, Sriram S

Publication Date: 2012-05-17

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PubMed Link: 22452980

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Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood

Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL

Publication Date: 2012-05-10

Variant appearance in text: VWF: R1205H

PubMed Link: 22431572

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von Willebrand disease: clinical and laboratory lessons learned from the large von Willebrand disease studies.

American Journal Of Hematology

James, Paula D PD; Lillicrap, David D

Publication Date: 2012-05

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PubMed Link: 22389132

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VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

Blood

Bellissimo, Daniel B DB; Christopherson, Pamela A PA; Flood, Veronica H VH; Gill, Joan Cox JC; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Shapiro, Amy D AD; Abshire, Thomas C TC; Leissinger, Cindy C; Hoots, W Keith WK; Lusher, Jeanne M JM; Ragni, Margaret V MV; Montgomery, Robert R RR

Publication Date: 2012-03-01

Variant appearance in text: VWF: R1205H

PubMed Link: 22197721

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Pathologic mechanisms of type 1 VWD mutations R1205H and Y1584C through in vitro and in vivo mouse models.

Blood

Pruss, Cynthia M CM; Golder, Mia M; Bryant, Andrea A; Hegadorn, Carol A CA; Burnett, Erin E; Laverty, Kimberly K; Sponagle, Kate K; Dhala, Aly A; Notley, Colleen C; Haberichter, Sandra S; Lillicrap, David D

Publication Date: 2011-04-21

Variant appearance in text: VWF: R1205H

PubMed Link: 21346256

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von Willebrand disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

James, Paula D PD; Goodeve, Anne C AC

Publication Date: 2011-05

Variant appearance in text: VWF: 3614G>A; Arg1205His

PubMed Link: 21289515

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Clinical utility gene card for: von Willebrand disease.

European Journal Of Human Genetics : Ejhg

Cumming, Anthony M AM; Keeney, Stephen S; Jenkins, P Vincent PV; Nash, Michael J MJ; O'Donnell, James S JS

Publication Date: 2011-05

Variant appearance in text: VWF: Arg1205His

PubMed Link: 21206511

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von Willebrand's disease diagnosis and laboratory issues.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia

Castaman, G G; Montgomery, R R RR; Meschengieser, S S SS; Haberichter, S L SL; Woods, A I AI; Lazzari, M A MA

Publication Date: 2010-07

Variant appearance in text: VWF: R1205H

PubMed Link: 20590859

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von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels.

Journal Of Thrombosis And Haemostasis : Jth

Hickson, N N; Hampshire, D D; Winship, P P; Goudemand, J J; Schneppenheim, R R; Budde, U U; Castaman, G G; Rodeghiero, F F; Federici, A B AB; James, P P; Peake, I I; Eikenboom, J J; Goodeve, A A; ,

Publication Date: 2010-09

Variant appearance in text: VWF: R1205H

PubMed Link: 20492463

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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: R1205H

PubMed Link: 20305138

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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: R1205H

PubMed Link: 20088930

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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: R1205H

PubMed Link: 19951969

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Models for prediction of factor VIII half-life in severe haemophiliacs: distinct approaches for blood group O and non-O patients.

Plos One

Fischer, Kathelijn K; Pendu, Ronan R; van Schooten, Carina J CJ; van Dijk, Karin K; Denis, Cécile V CV; van den Berg, H Marijke HM; Lenting, Peter J PJ

Publication Date: 2009-08-25

Variant appearance in text: VWF: R1205H

PubMed Link: 19707594

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• pone.0006745.pdf

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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

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PubMed Link: 19665675

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Clinical and laboratory versus molecular markers for a correct classification of von Willebrand disease.

Haematologica

Federici, Augusto B AB; Canciani, Maria T MT

Publication Date: 2009-05

Variant appearance in text: VWF: R1205H

PubMed Link: 19407316

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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: R1205H

PubMed Link: 18344424

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