학술논문

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'학술논문' 에서의 검색결과 4건 | 목록 1~10

  • 7 . Report
    Molecular and Clinical Profile of Von Willebrand Disease in Spain (PCM-EVW-ES)
    저자
    by Francisco Vidal Pérez; Maria Fernanda López Fernández; Almudena Pérez Rodríguez; Irene Corrales Insa; Ana Rosa Cid Haro, et al. 
    소스
    Llrap D. von Wlebrand dease: advances pathogenet understandg, dgnos, and therapy. Hematology Am Soc Hematol Educ Program. 2013;2013:254-60. do 10.1182/asheducatn-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.
    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
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