المؤلفون: Nina Borràs, Gerard Orriols, Javier Batlle, Almudena Pérez-Rodríguez, Teresa Fidalgo, Patricia Martinho, María Fernanda López-Fernández, Ángela Rodríguez-Trillo, Esther Lourés, Rafael Parra, Carme Altisent, Ana Rosa Cid, Santiago Bonanad, Noelia Cabrera, Andrés Moret, María Eva Mingot-Castellano, Nira Navarro, Rocío Pérez-Montes, Sally Marcellin, Ana Moreto, Sonia Herrero, Inmaculada Soto, Núria Fernández-Mosteirín, Víctor Jiménez-Yuste, Nieves Alonso, Aurora de Andrés-Jacob, Emilia Fontanes, Rosa Campos, María José Paloma, Nuria Bermejo, Ruben Berrueco, José Mateo, Karmele Arribalzaga, Pascual Marco, Ángeles Palomo, Nerea Castro Quismondo, Belén Iñigo, María del Mar Nieto, Rosa Vidal, María Paz Martínez, Reyes Aguinaco, Jesús María Tenorio, María Ferreiro, Javier García-Frade, Ana María Rodríguez-Huerta, Jorge Cuesta, Ramón Rodríguez-González, Faustino García-Candel, Manuela Dobón, Carlos Aguilar, Francisco Vidal, Irene Corrales

المصدر: Haematologica, Vol 104, Iss 3 (2019)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/8816; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/7c03a806ded0430bbd20a5f487bab2f2

المؤلفون: Javier Del Rey, Francisco Vidal, Lorena Ramírez, Nina Borràs, Irene Corrales, Iris Garcia, Olga Martinez-Pasarell, Silvia F Fernandez, Raquel Garcia-Cruz, Aïda Pujol, Alberto Plaja, Itziar Salaverria, Maria Oliver-Bonet, Jordi Benet, Joaquima Navarro

المصدر: PLoS ONE, Vol 13, Iss 10, p e0205692 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6192598?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b806091b3eea4698a9646a26ca135b76

المؤلفون: Almudena Pérez-Rodríguez, Javier Batlle, Irene Corrales, Nina Borràs, Ángela Rodríguez-Trillo, Esther Lourés, Ana Rosa Cid, Santiago Bonanad, Noelia Cabrera, Andrés Moret, Rafael Parra, María Eva Mingot-Castellano, Nira Navarro, Carmen Altisent, Rocío Pérez-Montes, Shally Marcellini, Ana Moreto, Sonia Herrero, Inmaculada Soto, Nuria Fernández Mosteirín, Víctor Jiménez-Yuste, Nieves Alonso, Aurora de Andrés Jacob, Emilia Fontanes, Rosa Campos, María José Paloma, Nuria Bermejo, Rubén Berrueco, José Mateo, Karmele Arribalzaga, Pascual Marco, Ángeles Palomo, Nerea Castro Quismondo, Belén Iñigo, María Del Mar Nieto, Rosa Vidal, María Paz Martínez, Reyes Aguinaco, Maria Tenorio, María Ferreiro, Javier García-Frade, Ana María Rodríguez-Huerta, Jorge Cuesta, Ramón Rodríguez-González, Faustino García-Candel, Manuela Dobón, Carlos Aguilar, Fernando Batlle, Francisco Vidal, María Fernanda López-Fernández

المصدر: PLoS ONE, Vol 13, Iss 6, p e0197876 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC6010290?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/5e94502fc1b040e6a7ae3d310804e4e9

المؤلفون: Nina Borràs, Javier Batlle, Almudena Pérez-Rodríguez, María Fernanda López-Fernández, Ángela Rodríguez-Trillo, Esther Lourés, Ana Rosa Cid, Santiago Bonanad, Noelia Cabrera, Andrés Moret, Rafael Parra, María Eva Mingot-Castellano, Ignacia Balda, Carme Altisent, Rocío Pérez-Montes, Rosa María Fisac, Gemma Iruín, Sonia Herrero, Inmaculada Soto, Beatriz de Rueda, Víctor Jiménez-Yuste, Nieves Alonso, Dolores Vilariño, Olga Arija, Rosa Campos, María José Paloma, Nuria Bermejo, Rubén Berrueco, José Mateo, Karmele Arribalzaga, Pascual Marco, Ángeles Palomo, Lizheidy Sarmiento, Belén Iñigo, María del Mar Nieto, Rosa Vidal, María Paz Martínez, Reyes Aguinaco, Jesús María César, María Ferreiro, Javier García-Frade, Ana María Rodríguez-Huerta, Jorge Cuesta, Ramón Rodríguez-González, Faustino García-Candel, Rosa Cornudella, Carlos Aguilar, Francisco Vidal, Irene Corrales

المصدر: Haematologica, Vol 102, Iss 12 (2017)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/8278; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/f9c77ced58a54a6f8612070fc4587bf5

المؤلفون: Laura Martin-Fernandez, Giovana Gavidia-Bovadilla, Irene Corrales, Helena Brunel, Lorena Ramírez, Sonia López, Juan Carlos Souto, Francisco Vidal, José Manuel Soria

المصدر: PLoS ONE, Vol 12, Iss 4, p e0176301 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5405990?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f4110fd961c8494abf2de34f04d238df

المؤلفون: Irene Corrales, Susana Catarino, Júlia Ayats, David Arteta, Carmen Altisent, Rafael Parra, Francisco Vidal

المصدر: Haematologica, Vol 97, Iss 7 (2012)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6342; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/07088ac900c84d518bf79d077a9880ec

المؤلفون: Irene Corrales, Lorena Ramírez, Júlia Ayats, Carme Altisent, Rafael Parra, Francisco Vidal

المصدر: Haematologica, Vol 95, Iss 11 (2010)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/5800; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/cd8a37945b834bc8afd6567e3340d4cb

المؤلفون: Francisco Vidal Pérez, Maria Fernanda López Fernández, Almudena Pérez Rodríguez, Irene Corrales Insa, Ana Rosa Cid Haro

المساهمون: Francisco Javier Batlle Fonrodona, Senior Researcher INIBIC. A Coruña. SPAIN

المصدر: Molecular and Clinical Profile of Von Willebrand Disease (VWD) in Spain (PCM-EVW-ES). Recruitment Extension, Further Data Analysis, Improvement of Registry Platform, Diagnosis and Management of VWD Application Development
Lillicrap D. von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy. Hematology Am Soc Hematol Educ Program. 2013;2013:254-60. doi: 10.1182/asheducation-2013.1.254.
Batlle J, Perez-Rodriguez A, Corrales I, Lopez-Fernandez MF, Rodriguez-Trillo A, Loures E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Perez-Montes R, Fisac RM, Iruin G, Herrero S, Soto I, de Rueda B, Jimenez-Yuste V, Alonso N, Vilarino D, Arija O, Campos R, Paloma MJ, Bermejo N, Toll T, Mateo J, Arribalzaga K, Marco P, Palomo A, Sarmiento L, Inigo B, Nieto Mdel M, Vidal R, Martinez MP, Aguinaco R, Cesar JM, Ferreiro M, Garcia-Frade J, Rodriguez-Huerta AM, Cuesta J, Rodriguez-Gonzalez R, Garcia-Candel F, Cornudella R, Aguilar C, Borras N, Vidal F. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm. Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6.
Batlle J, Perez-Rodriguez A, Pinto JC, Fraga EL, Rodriguez-Trillo Tch A, Fernanda Lopez-Fernandez M. Diagnosis and management of von Willebrand disease in Spain. Semin Thromb Hemost. 2011 Jul;37(5):503-10. doi: 10.1055/s-0031-1281036. Epub 2011 Nov 18.
Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Hashemi Soteh M, Baronciani L, Hallden C, Guilliatt A, Lester W, Peake I. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood. 2007 Jan 1;109(1):112-21. doi: 10.1182/blood-2006-05-020784. Epub 2006 Sep 19. Erratum In: Blood. 2008 Mar 15;111(6):3299-300.
Hashemi Soteh M, Peake IR, Marsden L, Anson J, Batlle J, Meyer D, Fressinaud E, Mazurier C, Goudemand J, Eikenboom J, Goodeve A; MCMDM-1VWD Study Group. Mutational analysis of the von Willebrand factor gene in type 1 von Willebrand disease using conformation sensitive gel electrophoresis: a comparison of fluorescent and manual techniques. Haematologica. 2007 Apr;92(4):550-3. doi: 10.3324/haematol.10606.
Budde U, Schneppenheim R, Eikenboom J, Goodeve A, Will K, Drewke E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Perez A, Meyer D, Mazurier C, Goudemand J, Ingerslev J, Habart D, Vorlova Z, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I. Detailed von Willebrand factor multimer analysis in patients with von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 von Willebrand disease (MCMDM-1VWD). J Thromb Haemost. 2008 May;6(5):762-71. doi: 10.1111/j.1538-7836.2008.02945.x. Epub 2008 Mar 1.
Haberichter SL, Castaman G, Budde U, Peake I, Goodeve A, Rodeghiero F, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill FG, Montgomery RR. 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. 2008 May 15;111(10):4979-85. doi: 10.1182/blood-2007-09-110940. Epub 2008 Mar 14.
Costa-Pinto J, Perez-Rodriguez A, del C Gomez-del-Castillo M, Loures E, Rodriguez-Trillo A, Batlle J, Lopez-Fernandez MF. Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies. Haemophilia. 2014 Jul;20(4):559-67. doi: 10.1111/hae.12380.
Batlle J, Lopez-Fernandez MF, Fraga EL, Trillo AR, Perez-Rodriguez MA. Von Willebrand factor/factor VIII concentrates in the treatment of von Willebrand disease. Blood Coagul Fibrinolysis. 2009 Mar;20(2):89-100. doi: 10.1097/MBC.0b013e3283254570.
Eikenboom J, Hilbert L, Ribba AS, Hommais A, Habart D, Messenger S, Al-Buhairan A, Guilliatt A, Lester W, Mazurier C, Meyer D, Fressinaud E, Budde U, Will K, Schneppenheim R, Obser T, Marggraf O, Eckert E, Castaman G, Rodeghiero F, Federici AB, Batlle J, Goudemand J, Ingerslev J, Lethagen S, Hill F, Peake I, Goodeve A. Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study. J Thromb Haemost. 2009 Aug;7(8):1304-12. doi: 10.1111/j.1538-7836.2009.03486.x. Epub 2009 Jun 30.
Eikenboom J, Van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G, Federici AB, Batlle J, Meyer D, Mazurier C, Goudemand J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost. 2006 Apr;4(4):774-82. doi: 10.1111/j.1538-7836.2006.01823.x.
Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici AB, Batlle J, Meyer D, Fressinaud E, Mazurier C, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Lethagen S, Pasi J, Hill F, Peake I. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost. 2006 Apr;4(4):766-73. doi: 10.1111/j.1538-7836.2006.01847.x.
Rodeghiero F, Castaman G, Tosetto A, Batlle J, Baudo F, Cappelletti A, Casana P, De Bosch N, Eikenboom JC, Federici AB, Lethagen S, Linari S, Srivastava A. The discriminant power of bleeding history for the diagnosis of type 1 von Willebrand disease: an international, multicenter study. J Thromb Haemost. 2005 Dec;3(12):2619-26. doi: 10.1111/j.1538-7836.2005.01663.x. Erratum In: J Thromb Haemost. 2006 Apr;4(4):925.
Penas N, Perez-Rodriguez A, Torea JH, Loures E, Noya MS, Lopez-Fernandez MF, Batlle J. von Willebrand disease R1374C: type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia). Am J Hematol. 2005 Nov;80(3):188-96. doi: 10.1002/ajh.20470.
Corrales I, Ramirez L, Altisent C, Parra R, Vidal F. The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients' platelets and leukocytes. J Thromb Haemost. 2011 Apr;9(4):679-88. doi: 10.1111/j.1538-7836.2011.04204.x.
Corrales I, Ramirez L, Ayats J, Altisent C, Parra R, Vidal F. Integration of molecular and clinical data of 40 unrelated von Willebrand Disease families in a Spanish locus-specific mutation database: first release including 58 mutations. Haematologica. 2010 Nov;95(11):1982-4. doi: 10.3324/haematol.2010.028977. Epub 2010 Aug 26. No abstract available.
Corrales I, Ramirez L, Altisent C, Parra R, Vidal F. Rapid molecular diagnosis of von Willebrand disease by direct sequencing. Detection of 12 novel putative mutations in VWF gene. Thromb Haemost. 2009 Mar;101(3):570-6. doi: 10.1160/th08-08-0500.
Tosetto A, Rodeghiero F, Castaman G, Goodeve A, Federici AB, Batlle J, Meyer D, Goudemand J, Eikenboom J, Schneppenheim R, Budde U, Ingerslev J, Lethagen S, Hill FG, Peake I. A comparison between two semi-quantitative bleeding scales for the diagnosis and assessment of bleeding severity in type 1 von Willebrand disease. Haemophilia. 2011 Jan;17(1):165-6. doi: 10.1111/j.1365-2516.2010.02381.x. No abstract available.
Castaman G, Goodeve A, Eikenboom J; European Group on von Willebrand Disease. Principles of care for the diagnosis and treatment of von Willebrand disease. Haematologica. 2013 May;98(5):667-74. doi: 10.3324/haematol.2012.077263.
Eikenboom J, Federici AB, Dirven RJ, Castaman G, Rodeghiero F, Budde U, Schneppenheim R, Batlle J, Canciani MT, Goudemand J, Peake I, Goodeve A; MCMDM-1VWD Study Group. VWF propeptide and ratios between VWF, VWF propeptide, and FVIII in the characterization of type 1 von Willebrand disease. Blood. 2013 Mar 21;121(12):2336-9. doi: 10.1182/blood-2012-09-455089. Epub 2013 Jan 24.
Mancuso DJ, Tuley EA, Westfield LA, Worrall NK, Shelton-Inloes BB, Sorace JM, Alevy YG, Sadler JE. Structure of the gene for human von Willebrand factor. J Biol Chem. 1989 Nov 25;264(33):19514-27.
Sadler JE, Budde U, Eikenboom JC, Favaloro EJ, Hill FG, Holmberg L, Ingerslev J, Lee CA, Lillicrap D, Mannucci PM, Mazurier C, Meyer D, Nichols WL, Nishino M, Peake IR, Rodeghiero F, Schneppenheim R, Ruggeri ZM, Srivastava A, Montgomery RR, Federici AB; Working Party on von Willebrand Disease Classification. Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor. J Thromb Haemost. 2006 Oct;4(10):2103-14. doi: 10.1111/j.1538-7836.2006.02146.x. Epub 2006 Aug 2.
Bellissimo DB, Christopherson PA, Flood VH, Gill JC, Friedman KD, Haberichter SL, Shapiro AD, Abshire TC, Leissinger C, Hoots WK, Lusher JM, Ragni MV, Montgomery RR. VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population. Blood. 2012 Mar 1;119(9):2135-40. doi: 10.1182/blood-2011-10-384610. Epub 2011 Dec 23.
Flood VH, Gill JC, Christopherson PA, Bellissimo DB, Friedman KD, Haberichter SL, Lentz SR, Montgomery RR. Critical von Willebrand factor A1 domain residues influence type VI collagen binding. J Thromb Haemost. 2012 Jul;10(7):1417-24. doi: 10.1111/j.1538-7836.2012.04746.x.
Borras N, Batlle J, Perez-Rodriguez A, Lopez-Fernandez MF, Rodriguez-Trillo A, Loures E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Balda I, Altisent C, Perez-Montes R, Fisac RM, Iruin G, Herrero S, Soto I, de Rueda B, Jimenez-Yuste V, Alonso N, Vilarino D, Arija O, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo A, Sarmiento L, Inigo B, Nieto MDM, Vidal R, Martinez MP, Aguinaco R, Cesar JM, Ferreiro M, Garcia-Frade J, Rodriguez-Huerta AM, Cuesta J, Rodriguez-Gonzalez R, Garcia-Candel F, Cornudella R, Aguilar C, Vidal F, Corrales I. Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients. Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29.
Perez-Rodriguez A, Batlle J, Corrales I, Borras N, Rodriguez-Trillo A, Loures E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Perez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernandez Mosteirin N, Jimenez-Yuste V, Alonso N, de Andres Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo A, Castro Quismondo N, Inigo B, Nieto MDM, Vidal R, Martinez MP, Aguinaco R, Tenorio M, Ferreiro M, Garcia-Frade J, Rodriguez-Huerta AM, Cuesta J, Rodriguez-Gonzalez R, Garcia-Candel F, Dobon M, Aguilar C, Batlle F, Vidal F, Lopez-Fernandez MF. 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. 2018 Jun 20;13(6):e0197876. doi: 10.1371/journal.pone.0197876. eCollection 2018.
Borras N, Orriols G, Batlle J, Perez-Rodriguez A, Fidalgo T, Martinho P, Lopez-Fernandez MF, Rodriguez-Trillo A, Loures E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Perez-Montes R, Marcellin S, Moreto A, Herrero S, Soto I, Fernandez-Mosteirin N, Jimenez-Yuste V, Alonso N, de Andres-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo A, Quismondo NC, Inigo B, Nieto MDM, Vidal R, Martinez MP, Aguinaco R, Tenorio JM, Ferreiro M, Garcia-Frade J, Rodriguez-Huerta AM, Cuesta J, Rodriguez-Gonzalez R, Garcia-Candel F, Dobon M, Aguilar C, Vidal F, Corrales I. Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA. Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25.
Batlle J, Perez-Rodriguez A, Corrales I, Borras N, Costa Pinto J, Lopez-Fernandez MF, Vidal F; PCM-EVW-ES Investigators Team. Update on Molecular Testing in von Willebrand Disease. Semin Thromb Hemost. 2019 Oct;45(7):708-719. doi: 10.1055/s-0039-1679922. Epub 2019 Apr 30.
Borras N, Garcia-Martinez I, Batlle J, Perez-Rodriguez A, Parra R, Altisent C, Lopez-Fernandez MF, Costa Pinto J, Batlle-Lopez F, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Perez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernandez-Mosteirin N, Jimenez-Yuste V, Alonso N, de Andres-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo A, Castro Quismondo N, Inigo B, Del Mar Nieto M, Vidal R, Martinez MP, Aguinaco R, Tenorio M, Ferreiro M, Garcia-Frade J, Rodriguez-Huerta AM, Cuesta J, Rodriguez-Gonzalez R, Garcia-Candel F, Dobon M, Aguilar C, Corrales I, Vidal F. 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. Thromb Haemost. 2020 Mar;120(3):437-448. doi: 10.1055/s-0040-1702227. Epub 2020 Mar 5.

المؤلفون: Meritxell Llorens-Revull, Brenda Martínez-González, Josep Quer, Juan Ignacio Esteban, Gonzalo Núñez-Moreno, Pablo Mínguez, Idoia Burgui, Ricardo Ramos-Ruíz, María Eugenia Soria, Angie Rico, Mar Riveiro-Barciela, Silvia Sauleda, María Piron, Irene Corrales, Francesc E. Borràs, Francisco Rodríguez-Frías, Ariadna Rando, Clara Ramírez-Serra, Silvia Camós, Esteban Domingo, Marta Bes, Celia Perales, Maria Isabel Costafreda

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 15; Pages: 12183

مصطلحات موضوعية: extracellular vesicle isolation, miRNA sequencing, diagnostic biomarker

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms241512183

الاتاحة: https://doi.org/10.3390/ijms241512183

المؤلفون: José Martínez-González, Laia Cañes, Judith Alonso, Carme Ballester-Servera, Antonio Rodríguez-Sinovas, Irene Corrales, Cristina Rodríguez

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 21; Pages: 11371

مصطلحات موضوعية: NOR-1, cardiovascular remodeling, atherosclerosis, abdominal aortic aneurysm

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms222111371

الاتاحة: https://doi.org/10.3390/ijms222111371

المؤلفون: Laura Martin-Fernandez, Iris Garcia-Martínez, Sonia Lopez, Angel Martinez-Perez, Noelia Vilalta, Melania Plaza, Carla Moret, Ana Viñuela, Andrew A. Brown, Nikolaos I. Panousis, Alfonso Buil, Emmanouil T. Dermitzakis, Irene Corrales, Juan Carlos Souto, Francisco Vidal, Jose Manuel Soria

المصدر: Thrombosis and Haemostasis. 123:438-452

مصطلحات موضوعية: Hematology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::29bd7921881c6077546d83ff300f10bd
https://doi.org/10.1055/s-0043-1760844

المؤلفون: Irene Corrales, Javier Batlle, Francisco Vidal, María Fernanda López-Fernández, Almudena Pérez-Rodríguez, Nina Borràs, Joana Costa Pinto

المصدر: Blood Coagulation & Fibrinolysis. 33:S12-S14

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Mucocutaneous zone, Disease, Hemophilia A, Bioinformatics, Haemophilia, Von Willebrand factor, hemic and lymphatic diseases, von Willebrand Factor, Von Willebrand disease, Humans, Medicine, Family history, Coagulation Disorder, biology, Clinical Laboratory Techniques, business.industry, Hematology, General Medicine, medicine.disease, Penetrance, von Willebrand Diseases, biology.protein, Blood Coagulation Tests, business, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379a8bb77864ed293af6ab22e80d3514
https://doi.org/10.1097/mbc.0000000000001093

المؤلفون: Francisco Vidal, Marta Martorell, Lorena Ramírez, Irene Corrales, Sofia Alonso, María Teresa Álvarez-Román, Nina Borràs, Ramiro Núñez, Iris Garcia-Martínez, Juan Eduardo Megías-Vericat, Carme Altisent, Rafael Parra

المصدر: Thrombosis and Haemostasis. 120:1395-1406

مصطلحات موضوعية: Adult, congenital, hereditary, and neonatal diseases and abnormalities, Candidate gene, Adolescent, Receptors, Cell Surface, Endogeny, Hemophilia A, Polymorphism, Single Nucleotide, ABO Blood-Group System, law.invention, Young Adult, Pharmacokinetics, law, hemic and lymphatic diseases, ABO blood group system, Humans, Medicine, Lectins, C-Type, Allele, Child, Factor VIII, business.industry, Hematology, Galactosyltransferases, Recombinant Proteins, Pharmacogenomic Testing, Pharmacogenomics, Immunology, Recombinant DNA, Personalized medicine, business, Cell Adhesion Molecules

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49d299669be0248e327885f0be43ecfa
https://doi.org/10.1055/s-0040-1714214

المؤلفون: Francisco Vidal, M. Pino, Carme Altisent, Maribel Diaz-Ricart, Irene Corrales, Nina Borràs, Ana Belen Moreno-Castaño, Gines Escolar, Marta Palomo, Sergi Torramade-Moix, R Parra, A. Ramos

المصدر: Platelets. 32:697-700

مصطلحات موضوعية: Adult, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, fungi, food and beverages, Hematology, General Medicine, Computational biology, Middle Aged, 030204 cardiovascular system & hematology, medicine.disease, Molecular analysis, Young Adult, von Willebrand Diseases, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, hemic and lymphatic diseases, Von Willebrand disease, medicine, Humans, Female, Identification (biology), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8dca5dcc541e219a0ef2814d2f13289
https://doi.org/10.1080/09537104.2020.1784403

المؤلفون: Mar Sánchez, Francisco Vidal, Emma Enrich, Nina Borràs, Francesc Rudilla, Lluís Martorell, Irene Corrales, Eva Campos, Sergi Querol

المصدر: Bone Marrow Transplantation. 55:1623-1631

مصطلحات موضوعية: Transplantation, business.industry, Histocompatibility Testing, medicine.medical_treatment, High-Throughput Nucleotide Sequencing, Hematology, Human leukocyte antigen, DNA sequencing, Blood Grouping and Crossmatching, Cord blood, Immunology, Humans, Medicine, Typing, Allele, business, Alleles, Cord blood transplantation, HLA-DRB1 Chains, Allotransplantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a107df417ed78613aae166f53ea6e47
https://doi.org/10.1038/s41409-020-0890-9

المؤلفون: Irene Corrales

المصدر: Blood coagulationfibrinolysis : an international journal in haemostasis and thrombosis. 33(Suppl 1)

مصطلحات موضوعية: Mutation, High-Throughput Nucleotide Sequencing, Humans, Hematology, General Medicine, Disease Susceptibility, Sequence Analysis, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8427891d447682c182b0de0d29d2b943
https://pubmed.ncbi.nlm.nih.gov/35088770

المؤلفون: Irene Corrales, José Martínez-González

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Chemistry, Pharmacology (medical), Cardiology and Cardiovascular Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99e021a453d084df1e91a23bfb0f4ba9
http://hdl.handle.net/10261/260221

المؤلفون: Francisco Vidal, Inmaculada Soto, Rocío Pérez-Montes, Almudena Pérez-Rodríguez, Maria Eva Mingot-Castellano, Ana Rosa Cid, Nerea Castro Quismondo, Aurora de Andrés Jacob, Javier Batlle, Iris Garcia-Martínez, Joana Costa Pinto, Nira Navarro, Emilia Fontanes, Carmen Altisent, Rafael Parra, Sonia Herrero, Víctor Jiménez-Yuste, Ana Moreto, investigators, Nuria Fernández Mosteirín, Santiago Bonanad, Fernando Batlle, Nina Borràs, María Fernanda López-Fernández, Irene Corrales, José Mateo

المصدر: HAEMOPHILIA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname

مصطلحات موضوعية: Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, diagnosis, Genetic counseling, Haemophilia A, von Willebrand Disease, Type 2, medicine.disease_cause, Haemophilia, Hemophilia A, Genetic analysis, Asymptomatic, FVIIIB, diagnosis, therapy, type 2N [VWD, VWF], Von Willebrand factor, hemic and lymphatic diseases, von Willebrand Factor, Von Willebrand disease, Medicine, Humans, VWF, Genetics (clinical), VWD, Mutation, therapy, type 2N, Factor VIII, biology, business.industry, Homozygote, Hematology, General Medicine, medicine.disease, von Willebrand Diseases, Immunology, biology.protein, cardiovascular system, FVIIIB, medicine.symptom, business, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1409f3bc56df28d9a16184945ff761d6
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=5896

المؤلفون: Nira Navarro, Rubén Berrueco, Irene Corrales, José Mateo, Manuela Dobón, Joana Costa Pinto, María Ferreiro, Ángeles Palomo, Almudena Pérez-Rodríguez, Javier García-Frade, Santiago Bonanad, Javier Batlle, Iris Garcia-Martínez, Emilia Fontanes, Shally Marcellini, Reyes Aguinaco, María José Paloma, Maria Cristina Tenório, Carme Altisent, Ana María Rodríguez-Huerta, Carlos Aguilar, Nieves Alonso, Ramón Rodríguez-González, Rosa Vidal, Aurora de Andrés-Jacob, Karmele Arribalzaga, Faustino García-Candel, María del Mar Nieto, Belén Iñigo, Sonia Herrero, Víctor Jiménez-Yuste, Ana Moreto, Rafael Parra, Nerea Castro Quismondo, Pascual Marco, Andrés Moret, Nina Borràs, Ana Rosa Cid, N. Cabrera, Fernando Batlle-López, Nuria Bermejo, Nuria Fernández-Mosteirín, María Paz Martínez, Rosa Campos, María Fernanda López-Fernández, Jorge Cuesta, Francisco Vidal, Inmaculada Soto, Rocío Pérez-Montes, Maria Eva Mingot-Castellano

المصدر: THROMBOSIS AND HAEMOSTASIS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante

مصطلحات موضوعية: 0301 basic medicine, Nonsynonymous substitution, Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Missense, single nucleotide variants, Locus (genetics), Hemorrhage, 030204 cardiovascular system & hematology, association study, Polymorphism, Single Nucleotide, 03 medical and health sciences, Young Adult, von willebrand disease, 0302 clinical medicine, Von Willebrand factor, ABO blood group system, hemic and lymphatic diseases, von Willebrand Factor, Von Willebrand disease, medicine, Humans, Computer Simulation, Prospective Studies, Registries, Factor VIII, biology, Haplotype, Homozygote, Hematology, Middle Aged, medicine.disease, Phenotype, von willebrand factor, von Willebrand Diseases, 030104 developmental biology, Haplotypes, Spain, Immunology, biology.protein, Epistasis, Regression Analysis, Female, circulatory and respiratory physiology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff8c95cf9d8af3d42959ca95bac6410
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17496

المؤلفون: Irene Corrales, María Fernanda López-Fernández, Nina Borràs, Almudena Pérez-Rodríguez, Francisco Vidal, Javier Batlle, Joana Costa Pinto

المصدر: Seminars in thrombosis and hemostasis. 45(7)

مصطلحات موضوعية: Von Willebrand Factor Gene, congenital, hereditary, and neonatal diseases and abnormalities, business.industry, Hematology, Limiting, 030204 cardiovascular system & hematology, Bioinformatics, medicine.disease, Laboratory testing, 03 medical and health sciences, von Willebrand Diseases, 0302 clinical medicine, Phenotype, hemic and lymphatic diseases, von Willebrand Factor, Von Willebrand disease, medicine, Humans, Molecular Targeted Therapy, Family history, Cardiology and Cardiovascular Medicine, business, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb320e9487053a4c93710138705a5d1
https://pubmed.ncbi.nlm.nih.gov/31041796