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Items: 1 to 50 of 64

1.

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

Borràs N, Orriols G, Batlle J, Pérez-Rodríguez A, Fidalgo T, Martinho P, López-Fernández MF, Rodríguez-Trillo Á, Lourés E, Parra R, Altisent C, Cid AR, Bonanad S, Cabrera N, Moret A, Mingot-Castellano ME, Navarro N, Pérez-Montes R, Marcellin S, Moreto A, Herrero S, Soto I, Fernández-Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés-Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Quismondo NC, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio JM, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Vidal F, Corrales I.

Haematologica. 2019 Mar;104(3):587-598. doi: 10.3324/haematol.2018.203166. Epub 2018 Oct 25.

2.

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

Pérez-Rodríguez A, Batlle J, Corrales I, Borràs N, Rodríguez-Trillo Á, Lourés E, Cid AR, Bonanad S, Cabrera N, Moret A, Parra R, Mingot-Castellano ME, Navarro N, Altisent C, Pérez-Montes R, Marcellini S, Moreto A, Herrero S, Soto I, Fernández Mosteirín N, Jiménez-Yuste V, Alonso N, de Andrés Jacob A, Fontanes E, Campos R, Paloma MJ, Bermejo N, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Castro Quismondo N, Iñigo B, Nieto MDM, Vidal R, Martínez MP, Aguinaco R, Tenorio M, Ferreiro M, García-Frade J, Rodríguez-Huerta AM, Cuesta J, Rodríguez-González R, García-Candel F, Dobón M, Aguilar C, Batlle F, Vidal F, López-Fernández MF.

PLoS One. 2018 Jun 20;13(6):e0197876. doi: 10.1371/journal.pone.0197876. eCollection 2018.

3.

Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders.

Bastida JM, Lozano ML, Benito R, Janusz K, Palma-Barqueros V, Del Rey M, Hernández-Sánchez JM, Riesco S, Bermejo N, González-García H, Rodriguez-Alén A, Aguilar C, Sevivas T, López-Fernández MF, Marneth AE, van der Reijden BA, Morgan NV, Watson SP, Vicente V, Hernández-Rivas JM, Rivera J, González-Porras JR.

Haematologica. 2018 Jan;103(1):148-162. doi: 10.3324/haematol.2017.171132. Epub 2017 Oct 5.

4.

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

Borràs N, Batlle J, Pérez-Rodríguez A, 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, Berrueco R, Mateo J, Arribalzaga K, Marco P, Palomo Á, Sarmiento L, Iñigo B, Nieto MDM, 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, Vidal F, Corrales I.

Haematologica. 2017 Dec;102(12):2005-2014. doi: 10.3324/haematol.2017.168765. Epub 2017 Sep 29.

5.

Characteristics and management of primary and other immune thrombocytopenias: Spanish registry study.

Palau J, Sancho E, Herrera M, Sánchez S, Mingot ME, Upegui RI, Rodríguez Salazar MJ, de la Cruz F, Fernández MC, González López TJ, Hernández JJ, Ríos E, López-Fernández MF, García M, Hernández JÁ, Sanz MA.

Hematology. 2017 Sep;22(8):484-492. doi: 10.1080/10245332.2017.1311442. Epub 2017 Apr 17.

PMID:
28415913
6.

Efficacy and safety of long-acting recombinant fusion protein linking factor IX with albumin in haemophilia B patients undergoing surgery.

Négrier C, Abdul Karim F, Lepatan LM, Lienhart A, López-Fernández MF, Mahlangu J, Pabinger I, Li Y, Wolko D, Voigt C, Jacobs I, Santagostino E.

Haemophilia. 2016 Jul;22(4):e259-66. doi: 10.1111/hae.12972. Epub 2016 Jun 22.

PMID:
27333467
7.

Efficacy and safety of pegylated full-length recombinant factor VIII with extended half-life for perioperative haemostasis in haemophilia A patients.

Brand B, Gruppo R, Wynn TT, Griskevicius L, Lopez Fernandez MF, Chapman M, Dvorak T, Pavlova BG, Abbuehl BE.

Haemophilia. 2016 Jul;22(4):e251-8. doi: 10.1111/hae.12963. Epub 2016 Jun 21.

PMID:
27328112
8.

Practical aspects of factor concentrate use in patients with von Willebrand disease undergoing invasive procedures: a European survey.

Windyga J, Dolan G, Altisent C, Katsarou O, López Fernández MF, Zülfikar B; EHTSB.

Haemophilia. 2016 Sep;22(5):739-51. doi: 10.1111/hae.12955. Epub 2016 Jun 13.

PMID:
27292438
9.

Spanish Consensus Guidelines on prophylaxis with bypassing agents in patients with haemophilia and inhibitors.

López-Fernández MF, Altisent Roca C, Álvarez-Román MT, Canaro Hirnyk MI, Mingot-Castellano ME, Jiménez-Yuste V, Cid Haro AR, Pérez-Garrido R, Sedano Balbas C.

Thromb Haemost. 2016 May 2;115(5):872-95. doi: 10.1160/TH15-07-0568. Epub 2016 Feb 4. Review.

PMID:
26842562
10.

Spanish consensus guidelines on prophylaxis with bypassing agents for surgery in patients with haemophilia and inhibitors.

Mingot-Castellano ME, Álvarez-Román MT, López-Fernández MF, Altisent-Roca C, Canaro-Hirnyk MI, Jiménez-Yuste V, Cid-Haro AR, Pérez-Garrido R, Sedano-Balbas C.

Eur J Haematol. 2016 May;96(5):461-74. doi: 10.1111/ejh.12730. Epub 2016 Feb 4. Review.

PMID:
26714021
11.

Remission and platelet responses with romiplostim in primary immune thrombocytopenia: final results from a phase 2 study.

Newland A, Godeau B, Priego V, Viallard JF, López Fernández MF, Orejudos A, Eisen M.

Br J Haematol. 2016 Jan;172(2):262-73. doi: 10.1111/bjh.13827. Epub 2015 Nov 5.

PMID:
26537623
12.

Replacement therapy in inherited factor VII deficiency: occurrence of adverse events and relation with surgery.

Napolitano M, Dolce A, Batorova A, Giansily-Blaizot M, Ingerslev J, Mirbehbahani N, Di Minno MN, Lopez Fernandez MF, Karimi M, Charoenkwan P, Kavakli K, Mariani G.

Haemophilia. 2015 Nov;21(6):e513-7. doi: 10.1111/hae.12782. Epub 2015 Aug 7. No abstract available.

PMID:
26249164
13.

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

Batlle J, 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.

Thromb Haemost. 2016 Jan;115(1):40-50. doi: 10.1160/TH15-04-0282. Epub 2015 Aug 6.

PMID:
26245874
14.

Practical aspects of DDAVP use in patients with von Willebrand Disease undergoing invasive procedures: a European survey.

Windyga J, Dolan G, Altisent C, Katsarou O, López Fernández MF, Zülfikar B; EHTSB.

Haemophilia. 2016 Jan;22(1):110-20. doi: 10.1111/hae.12763. Epub 2015 Jul 24.

PMID:
26207933
15.

Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study.

Sánchez-Guiu I, Antón AI, Padilla J, Velasco F, Lucia JF, Lozano M, Cid AR, Sevivas T, Lopez-Fernandez MF, Vicente V, González-Manchón C, Rivera J, Lozano ML.

Orphanet J Rare Dis. 2014 Dec 24;9:213. doi: 10.1186/s13023-014-0213-6.

16.

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.

Pérez-Rodríguez A, Lourés E, Rodríguez-Trillo Á, Costa-Pinto J, García-Rivero A, Batlle-López A, Batlle J, López-Fernández MF.

Thromb Res. 2014 Dec;134(6):1171-5. doi: 10.1016/j.thromres.2014.09.004. Epub 2014 Sep 10. Review.

PMID:
25242241
17.

Diagnosis of inherited von Willebrand disease: comparison of two methodologies and analysis of the discrepancies.

Costa-Pinto J, Pérez-Rodríguez A, del C Goméz-del-Castillo M, Lourés E, Rodríguez-Trillo A, Batlle J, López-Fernández MF.

Haemophilia. 2014 Jul;20(4):559-67.

PMID:
25077350
18.

A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome.

Pérez-Rodríguez A, Batlle-López A, Blanco R, Varela I, León J, Delgado MD, Lourés E, Rodríguez-Trillo A, García-Rivero A, Costa-Pinto J, Batlle J, López-Fernández MF.

Thromb Haemost. 2014 Nov;112(5):1065-8. doi: 10.1160/TH14-02-0116. Epub 2014 Jul 24. No abstract available.

PMID:
25057114
19.

Acquired von Willebrand syndrome and mitral valve prosthesis leakage. A pilot study.

Pérez-Rodríguez A, Pinto JC, Lourés E, Rodríguez-Trillo A, Cuenca JJ, Batlle J, López-Fernández MF.

Eur J Haematol. 2011 Nov;87(5):448-56. doi: 10.1111/j.1600-0609.2011.01664.x. Epub 2011 Jul 26.

PMID:
21668503
20.

Sequential combined bypassing therapy is safe and effective in the treatment of unresponsive bleeding in adults and children with haemophilia and inhibitors.

Gringeri A, Fischer K, Karafoulidou A, Klamroth R, López-Fernández MF, Mancuso E; European Haemophilia Treatment Standardisation Board (EHTSB).

Haemophilia. 2011 Jul;17(4):630-5. doi: 10.1111/j.1365-2516.2010.02467.x. Epub 2011 Feb 15.

PMID:
21323801
21.

Non-genetic risk factors and the development of inhibitors in haemophilia: a comprehensive review and consensus report.

Astermark J, Altisent C, Batorova A, Diniz MJ, Gringeri A, Holme PA, Karafoulidou A, Lopez-Fernández MF, Reipert BM, Rocino A, Schiavoni M, von Depka M, Windyga J, Fijnvandraat K; European Haemophilia Therapy Standardisation Board.

Haemophilia. 2010 Sep 1;16(5):747-66. doi: 10.1111/j.1365-2516.2010.02231.x. Epub 2010 Apr 14. Review.

PMID:
20398077
22.

Pharmacogenetics of acenocoumarol in patients with extreme dose requirements.

Pérez-Andreu V, Roldán V, López-Fernández MF, Antón AI, Alberca I, Corral J, Montes R, García-Barberá N, Ferrando F, Vicente V, González-Conejero R.

J Thromb Haemost. 2010 May;8(5):1012-7. doi: 10.1111/j.1538-7836.2010.03800.x. Epub 2010 Feb 9.

23.

Von Willebrand factor/factor VIII concentrates in the treatment of von Willebrand disease.

Batlle J, López-Fernández MF, Fraga EL, Trillo AR, Pérez-Rodríguez MA.

Blood Coagul Fibrinolysis. 2009 Mar;20(2):89-100. doi: 10.1097/MBC.0b013e3283254570. Review.

PMID:
19786936
24.

Autosomal dominant C1149R von Willebrand disease: phenotypic findings and their implications.

Pérez-Rodríguez A, García-Rivero A, Lourés E, López-Fernández MF, Rodríguez-Trillo A, Batlle J.

Haematologica. 2009 May;94(5):679-86. doi: 10.3324/haematol.2008.003301. Epub 2009 Mar 13.

25.

Type 2M von Willebrand disease: a variant of type 2A?

Batlle J, Pérez-Rodríguez A, Franqueira MD, López-Fernández MF.

J Thromb Haemost. 2008 Feb;6(2):388-90. Epub 2007 Nov 23. No abstract available.

26.

[Lessons about recombinant activated factor VII. Ten years since its registration for use in hemophilia complicated with inhibitor].

Batlle J, López Fernández MF.

Med Clin (Barc). 2007 Sep 22;129(10):382-6. Spanish. No abstract available.

PMID:
17915135
27.

[The "Seville" Consensus Document on Alternatives to Allogenic Blood Transfusion. Sociedades españolas de Anestesiología (SEDAR), Medicina Intensiva (SEMICYUC), Hematología y Hemoterapia (AEHH), Transfusión sanguínea (SETS) Trombosis y Hemostasia (SETH)].

Alberca I, Asuero MS, Bóveda JL, Carpio N, Contreras E, Fernández-Mondéjar E, Forteza A, García-Erce JA, García de Lorenzo A, Gomar C, Gómez A, Llau JV, López-Fernández MF, Moral V, Muñoz M, Páramo JA, Torrabadella P, Quintana M, Sánchez C.

Med Clin (Barc). 2006 Jul 18;127 Suppl 1:3-20. Spanish.

PMID:
17020674
28.

von Willebrand disease R1374C: type 2A or 2M? A challenge to the revised classification. High frequency in the northwest of Spain (Galicia).

Penas N, Pérez-Rodríguez A, Torea JH, Lourés E, Noya MS, López-Fernández MF, Batlle J.

Am J Hematol. 2005 Nov;80(3):188-96.

29.

Advances in the therapy of von Willebrand disease.

Batlle J, Noya MS, Giangrande P, Lopez-Fernandez MF.

Haemophilia. 2002 May;8(3):301-7. Review.

PMID:
12010427
30.

Type 2B von Willebrand's disease due to Val1316Met mutation. Heterogeneity in the same sibship.

Rendal E, Penas N, Larrabeiti B, Pérez A, Vale A, López-Fernández MF, Batlle J.

Ann Hematol. 2001 Jun;80(6):354-60.

PMID:
11475150
31.

[Correction].

Batlle J, López Fernández MF.

Sangre (Barc). 1999 Jun;44(3):247. Spanish. No abstract available.

PMID:
10481597
32.

[The importance of studying factor V Leiden and the 20210 [correction of 29210A] allele of the prothrombin gene in thromboembolic disease.

Batlle J, López Fernández MF.

Sangre (Barc). 1999 Feb;44(1):3-6. Spanish. No abstract available. Erratum in: Sangre (Barc) 1999 Jun;44(3):247.

PMID:
10323089
33.

Alloantibody from a patient with severe von Willebrand disease inhibits von Willebrand factor-FVIII interaction.

Batlle J, Lourés E, Vila P, Hernández MC, Méndez JA, Torea J, Rendal E, Couselo MJ, Filgueira A, López Fernández MF.

Ann Hematol. 1997 Sep;75(3):111-5.

PMID:
9368480
34.

Antibodies to factor VIII in plasma of patients with hemophilia A and normal subjects.

Batlle J, Gómez E, Rendal E, Torea J, Lourés E, Couselo M, Vila P, Sedano C, Tusell X, Magallón M, Quintana M, González-Boullosa R, López-Fernández MF.

Ann Hematol. 1996 May;72(5):321-6.

PMID:
8645745
35.

Hemophilia A or von Willebrand disease?

Batlle J, Blanco-Lopez MJ, Domenech M, Baiget M, Rocha R, Lopez-Fernandez MF.

Ann Hematol. 1994 Dec;69(6):317-9.

PMID:
7993941
36.

Prevalence, follow-up and clinical significance of the anticardiolipin antibodies in normal subjects.

Vila P, Hernández MC, López-Fernández MF, Batlle J.

Thromb Haemost. 1994 Aug;72(2):209-13.

PMID:
7831653
37.

Proteolytic processing of von Willebrand factor subunit: heterogeneity in type-IIA von Willebrand disease.

Batlle J, Lasierra J, Villamor AF, Navarro JL, Pardo A, Campos M, Justiça B, López Fernández MF.

Ann Hematol. 1994 Mar;68(3):111-5.

PMID:
8167176
38.

[Therapy of disseminated intravascular coagulation in acute promyelocytic leukemias. Apropos of 19 cases].

Rodríguez Gómez M, López Fernández MF, Batlle J.

Sangre (Barc). 1993 Dec;38(6):449-53. Spanish.

PMID:
8171380
39.

Primary leiomyosarcoma of the superior vena cava with massive thrombosis treated by local fibrinolysis.

Marini M, Tovar E, López-Fernández MF, Pombo F, Rodríguez E.

Br J Radiol. 1992 Dec;65(780):1131-2. No abstract available.

PMID:
1286424
40.

[Importance of the study of the binding of factor VIII to von Willebrand factor in hemophilia A].

Batlle J, Blanco-López MJ, Castiñeira MP, López-Fernández MF.

Sangre (Barc). 1992 Jun;37(3):211-24. Spanish. No abstract available.

PMID:
1359656
41.

Further evidence for recessive inheritance of von Willebrand disease with abnormal binding of von Willebrand factor to factor VIII.

López-Fernández MF, Blanco-López MJ, Castiñeira MP, Batlle J.

Am J Hematol. 1992 May;40(1):20-7.

PMID:
1566742
42.

Abnormal proteolytic degradation of von Willebrand factor after desmopressin infusion in a new subtype of von Willebrand disease (ID).

Lopez-Fernandez MF, Gonzalez-Boullosa R, Blanco-Lopez MJ, Perez M, Batlle J.

Am J Hematol. 1991 Mar;36(3):163-70.

PMID:
1996556
43.

Acquired von Willebrand disease in multiple myeloma secondary to absorption of von Willebrand factor by plasma cells.

Richard C, Cuadrado MA, Prieto M, Batlle J, López Fernández MF, Rodriguez Salazar ML, Bello C, Recio M, Santoro T, Gomez Casares MT, et al.

Am J Hematol. 1990 Oct;35(2):114-7.

PMID:
2205095
44.

High levels of plasma FVIII and vWF in the toxic epidemic syndrome patients.

López-Fernández MF, López-Berges C, Fermoso J, Martín-Pascual A, Sánchez-Hernández JJ, López-Borrasca A, Batlle J.

Thromb Haemost. 1989 Sep 29;62(2):690-3.

PMID:
2510349
45.

Secretion of von Willebrand factor from platelets.

Lopez-Fernandez MF, Batlle J, Ruggeri ZM, Zimmerman TS.

Methods Enzymol. 1989;169:244-51. No abstract available.

PMID:
2785631
46.

Further specificity characterization of von Willebrand factor inhibitors developed in two patients with severe von Willebrand disease.

López-Fernández MF, Martin R, López-Berges C, Ramos F, Bosch N, Batlle J.

Blood. 1988 Jul;72(1):116-20.

47.

Type IIB von Willebrand's disease associated with a complex thrombocytopenic thrombocytopathy.

López-Fernández MF, López-Berges C, Martín-Bernal JA, Sánchez R, Villarón LG, Díez-Jarilla J, Batlle J.

Am J Hematol. 1988 Apr;27(4):291-8.

PMID:
3258474
48.

Abnormal structure of von Willebrand factor in myeloproliferative syndrome is associated to either thrombotic or bleeding diathesis.

López-Fernández MF, López-Berges C, Martín R, Pardo A, Ramos FJ, Batlle J.

Thromb Haemost. 1987 Aug 4;58(2):753-7.

PMID:
3499682
49.

Proteolytic degradation of von Willebrand factor after DDAVP administration in normal individuals.

Batlle J, Lopez-Fernandez MF, Lopez-Borrasca A, Lopez-Berges C, Dent JA, Berkowitz SD, Ruggeri ZM, Zimmerman TS.

Blood. 1987 Jul;70(1):173-6.

50.

Assessment of multimeric structure and ristocetin-induced binding to platelets of von Willebrand factor present in cryoprecipitate and different factor VIII concentrates.

López-Fernández MF, López-Berges C, Corral M, García-Talavera JR, López Borrasca A, Batlle J.

Vox Sang. 1987;52(1-2):15-9.

PMID:
3111088

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