Unraveling the Influence of Common von Willebrand factor variants on von Willebrand Disease Phenotype: An Exploratory Study on the Molecular and Clinical Profile of von Willebrand Disease in Spain Cohort.

Autor: Borràs N; Congenital Coagulopathies, Banc de Sang i Teixits, Barcelona, Spain.; Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain., Garcia-Martínez I; Congenital Coagulopathies, Banc de Sang i Teixits, Barcelona, Spain.; Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain., Batlle J; Department of Hematology, Complexo Hospitalario Universitario A Coruña, INIBIC, A Coruña, Spain., Pérez-Rodríguez A; Department of Hematology, Complexo Hospitalario Universitario A Coruña, INIBIC, A Coruña, Spain., Parra R; Congenital Coagulopathies, Banc de Sang i Teixits, Barcelona, Spain.; Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain., Altisent C; Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain., López-Fernández MF; Department of Hematology, Complexo Hospitalario Universitario A Coruña, INIBIC, A Coruña, Spain., Costa Pinto J; Department of Hematology, Complexo Hospitalario Universitario A Coruña, INIBIC, A Coruña, Spain., Batlle-López F; Department of Research, Lapisoft SA, A Coruña, Spain., Cid AR; Department of Hematology, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Bonanad S; Department of Hematology, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Cabrera N; Department of Hematology, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Moret A; Department of Hematology, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Mingot-Castellano ME; Department of Hematology, Hospital Regional Universitario de Málaga, Málaga, Spain.; Hospital Universitario Virgen del Rocio, Sevilla, Spain., Navarro N; Department of Hematology, Hospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain., Pérez-Montes R; Department of Hematology, Hospital Universitario Marqués de Valdecilla, Santander, Spain., Marcellini S; Department of Hematology, Salud Castilla y León, Segovia, Spain., Moreto A; Department of Hematology, Hospital Universitario Cruces, Barakaldo, Spain., Herrero S; Department of Hematology, Hospital Universitario de Guadalajara, Guadalajara, Spain., Soto I; Department of Hematology, Hospital Universitario Central de Asturias, Oviedo, Spain., Fernández-Mosteirín N; Department of Hematology, Hospital Universitario Miguel Servet, Zaragoza, Spain., Jiménez-Yuste V; Department of Hematology, Hospital Universitario La Paz, Madrid, Spain., Alonso N; Department of Hematology, Hospital Infanta Cristina, Badajoz, Spain., de Andrés-Jacob A; Department of Hematology, Complexo Hospitalario Universitario Santiago de Compostela, Spain., Fontanes E; Department of Hematology, Hospital Universitario Lucus Augusti, Lugo, Spain., Campos R; Department of Hematology, Hospital Jerez de la Frontera, Cádiz, Spain., Paloma MJ; Department of Hematology, Hospital Virgen del Camino, Pamplona, Spain., Bermejo N; Department of Hematology, Hospital San Pedro de Alcántara, Cáceres, Spain., Berrueco R; Department of Hematology, Hospital Sant Joan de Deu, Barcelona, Spain., Mateo J; Department of Hematology, Hospital Sta Creu i St Pau, Barcelona, Spain., Arribalzaga K; Department of Hematology, Hospital Universitario Fundación Alcorcón, Madrid, Spain., Marco P; Department of Hematology, Hospital General de Alicante, Alicante, Spain., Palomo Á; Department of Hematology, Hospital Regional Universitario de Málaga, Málaga, Spain., Castro Quismondo N; Department of Hematology, Hospital Universitario 12 de Octubre, Madrid, Spain., Iñigo B; Department of Hematology, Hospital Clínico San Carlos, Madrid, Spain., Del Mar Nieto M; Department of Hematology, Complejo Hospitalario de Jaén, Jaén, Spain., Vidal R; Department of Hematology, Fundación Jiménez Díaz, Madrid, Spain., Martínez MP; Department of Hematology, Hospital Nuestra Sra. de Sonsoles, Ávila, Spain., Aguinaco R; Department of Hematology, Hospital Joan XXIII, Tarragona, Spain., Tenorio M; Department of Hematology, Hospital Ramón y Cajal, Madrid, Spain., Ferreiro M; Department of Hematology, Hospital Montecelo, Pontevedra, Spain., García-Frade J; Department of Hematology, Hospital Río Hortega, Valladolid, Spain., Rodríguez-Huerta AM; Department of Hematology, Hospital Gregorio Marañón, Madrid, Spain., Cuesta J; Department of Hematology, Hospital Virgen de la Salud, Toledo, Spain., Rodríguez-González R; Department of Hematology, Hospital Severo Ochoa, Madrid, Spain., García-Candel F; Department of Hematology, Hospital Universitario Virgen Arrixaca, Murcia, Spain., Dobón M; Department of Hematology, Hospital Lozano Blesa, Zaragoza, Spain., Aguilar C; Department of Hematology, Hospital Santa Bárbara, Soria, Spain., Corrales I; Congenital Coagulopathies, Banc de Sang i Teixits, Barcelona, Spain.; Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain., Vidal F; Congenital Coagulopathies, Banc de Sang i Teixits, Barcelona, Spain.; Transfusional Medicine, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Barcelona, Spain.; CIBER de Enfermedades Cardiovasculares (CIBERCV), Barcelona, Spain.

Publikováno v: Thrombosis and haemostasis [Thromb Haemost] 2020 Mar; Vol. 120 (3), pp. 437-448. Date of Electronic Publication: 2020 Mar 05.

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

Autor: Borràs N; Banc de Sang i Teixits, Barcelona, Spain.; Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Spain., Batlle J; Complexo Hospitalario Universitario A Coruña, INIBIC, Spain., Pérez-Rodríguez A; Complexo Hospitalario Universitario A Coruña, INIBIC, Spain., López-Fernández MF; Complexo Hospitalario Universitario A Coruña, INIBIC, Spain., Rodríguez-Trillo Á; Complexo Hospitalario Universitario A Coruña, INIBIC, Spain., Lourés E; Complexo Hospitalario Universitario A Coruña, INIBIC, Spain., Cid AR; Hospital Universitario y Politécnico La Fe, Valencia, Spain., Bonanad S; Hospital Universitario y Politécnico La Fe, Valencia, Spain., Cabrera N; Hospital Universitario y Politécnico La Fe, Valencia, Spain., Moret A; Hospital Universitario y Politécnico La Fe, Valencia, Spain., Parra R; Banc de Sang i Teixits, Barcelona, Spain.; Hospital Universitari Vall d'Hebron, Barcelona, Spain., Mingot-Castellano ME; Hospital Regional Universitario de Málaga, Spain., Balda I; Hospital Universitario Dr. Negrín, Las Palmas de Gran Canaria, Spain., Altisent C; Hospital Universitari Vall d'Hebron, Barcelona, Spain., Pérez-Montes R; Hospital Universitario Marqués de Valdecilla, Santander, Spain., Fisac RM; Salud Castilla y León, Segovia, Spain., Iruín G; Hospital Universitario Cruces, Barakaldo, Spain., Herrero S; Hospital Universitario de Guadalajara, Spain., Soto I; Hospital Universitario Central de Asturias, Oviedo, Spain., de Rueda B; Hospital Universitario Miguel Servet, Zaragoza, Spain., Jiménez-Yuste V; Hospital Universitario La Paz, Madrid, Spain., Alonso N; Hospital Infanta Cristina, Badajoz, Spain., Vilariño D; Complejo Hospitalario Universitario Santiago de Compostela, Spain., Arija O; Hospital Universitario Lucus Augusti, Lugo, Spain., Campos R; Hospital Jerez de la Frontera, Cádiz, Spain., Paloma MJ; Hospital Virgen del Camino, Pamplona, Spain., Bermejo N; Hospital San Pedro de Alcántara, Cáceres, Spain., Berrueco R; Hospital Sant Joan de Deu, Barcelona, Spain., Mateo J; Hospital de la Santa Creu i Sant Pau, Barcelona, Spain., Arribalzaga K; Hospital Universitario Fundación de Alcorcón, Madrid, Spain., Marco P; Hospital General de Alicante, Spain., Palomo Á; Hospital Regional Universitario de Málaga, Spain., Sarmiento L; Hospital Universitario 12 de Octubre, Madrid, Spain., Iñigo B; Hospital Clínico San Carlos, Madrid, Spain., Nieto MDM; Complejo Hospitalario de Jaén, Spain., Vidal R; Fundación Jiménez Díaz, Madrid, Spain., Martínez MP; Hospital Nuestra Señora de Sonsoles, Ávila, Spain., Aguinaco R; Hospital Universitario de Tarragona Joan XXIII, Spain., César JM; Hospital Ramón y Cajal, Madrid, Spain., Ferreiro M; Hospital Montecelo, Pontevedra, Spain., García-Frade J; Hospital del Río Hortega, Valladolid, Spain., Rodríguez-Huerta AM; Hospital Gregorio Marañón, Madrid, Spain., Cuesta J; Hospital Virgen de la Salud, Toledo, Spain., Rodríguez-González R; Hospital Severo Ochoa, Madrid, Spain., García-Candel F; Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain., Cornudella R; Hospital Clínico Universitario Lozano Blesa, Zaragoza, Spain., Aguilar C; Hospital Santa Bárbara, Soria, Spain., Vidal F; Banc de Sang i Teixits, Barcelona, Spain icorrales@bst.cat fvidal@bst.cat.; Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Spain.; CIBER de Enfermedades Cardiovasculares, Spain., Corrales I; Banc de Sang i Teixits, Barcelona, Spain icorrales@bst.cat fvidal@bst.cat.; Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona (VHIR-UAB), Spain.

Publikováno v: Haematologica [Haematologica] 2017 Dec; Vol. 102 (12), pp. 2005-2014. Date of Electronic Publication: 2017 Sep 29.

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm.

Autor: Batlle J; Francisco Javier Batlle Fonrodona, M. D., Servicio de Hematología y Hemoterapia. INIBIC., Complexo Hospitalario Universitario A Coruña, Edificio Hospital Materno Infantil, Carretera del Pasaje s/n, 15006 - A Coruña, Spain, Tel.: +34 981 178000 Ext. 292113, Fax: +34 981 178392, E-mail: francisco.javier.batlle.fonrodona@sergas.es., Pérez-Rodríguez A, Corrales I, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Pérez-Montes R, Fisac RM, Iruín G, Herrero S, Soto I, de Rueda B, Jiménez-Yuste V, Alonso N, Vilariño D, Arija O, Campos R, Paloma MJ, Bermejo N, Toll T, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto Mdel M, Vidal R, Martínez MP, Aguinaco R, César JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Cornudella R, Aguilar C, Borràs N, Vidal F

Publikováno v: Thrombosis and haemostasis [Thromb Haemost] 2016 Jan; Vol. 115 (1), pp. 40-50. Date of Electronic Publication: 2015 Aug 06.