Publications:

Next-generation sequencing of von Willebrand factor and coagulation factor VIII genes: a cross-sectional study in Croatian adult patients diagnosed with von Willebrand disease.

Croatian Medical Journal

Lapić, Ivana I; Radić Antolic, Margareta M; Boban, Ana A; Coen Herak, Desiree D; Rogić, Dunja D; Zadro, Renata R

Publication Date: 2022-04-30

Variant appearance in text: VWF: 2878C>T; Arg960Trp

PubMed Link: 35505650

Variant Present in the following documents:

• Main text
• CroatMedJ_63_0166.pdf

View BVdb publication page

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: Arg960Trp

PubMed Link: 29924855

Variant Present in the following documents:

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

View BVdb publication page

Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs370984712

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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: 2878C>T; Arg960Trp

PubMed Link: 28971901

Variant Present in the following documents:

• 2017.168765.BORRAS_SUPPL.pdf

View BVdb publication page

Genetic heterogeneity in a large cohort of Indian type 3 von Willebrand disease patients.

Plos One

Kasatkar, Priyanka P; Shetty, Shrimati S; Ghosh, Kanjaksha K

Publication Date: 2014

Variant appearance in text: VWF: 2878C>T

PubMed Link: 24675615

Variant Present in the following documents:

• Main text

View BVdb publication page