Common large partial VWF gene deletion does not cause alloantibody formation in the Hungarian type 3 von Willebrand disease population
暂无分享,去创建一个
H. Losonczy | L. Nemes | T. Masszi | R. Schneppenheim | T. Obser | F. Oyen | I. Bodó | G. Radványi | A. Mohl | E. Nagy | Á. Schlammadinger | Z. Boda | A. Marosi | A. Várkonyi | R. Jáger | Z. Szélessy | K. Vezendy | B. Vilimi | ZS. SZÉLESSY | Zoltán Boda | Reinhard Schneppenheim | Eszter Nagy | Tamas Masszi | Imre Bodó | Hajna Losonczy | László Nemes
[1] E. Berber. The Molecular Genetics of von Willebrand Disease , 2012, Turkish journal of haematology : official journal of Turkish Society of Haematology.
[2] D. Hampshire,et al. von Willebrand factor variant p.Arg924Gln marks an allele associated with reduced von Willebrand factor and factor VIII levels , 2010, Journal of thrombosis and haemostasis : JTH.
[3] P. James,et al. An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution , 2009, Journal of thrombosis and haemostasis : JTH.
[4] P. Collins,et al. A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3. , 2009, Blood.
[5] Z. Berneman,et al. Laboratory and Molecular Characteristics of Recessive von Willebrand Disease Type 2C (2A Subtype IIC) of Variable Severity due to Homozygous or Double Heterozygous Mutations in the D1 and D2 Domains , 2009, Acta Haematologica.
[6] R. Marschalek,et al. An Alu‐mediated novel large deletion is the most frequent cause of type 3 von Willebrand disease in Hungary , 2008, Journal of thrombosis and haemostasis : JTH.
[7] R. Marschalek,et al. A common 253‐kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3 , 2007, Journal of thrombosis and haemostasis : JTH.
[8] R. Peñaloza,et al. [Molecular biology of von Willebrand disease]. , 2007, Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion.
[9] L. O'Brien,et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. , 2007, Blood.
[10] P. Collins,et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease , 2006, Thrombosis and Haemostasis.
[11] M. Lazzari,et al. R924Q substitution encoded within exon 21 of the von Willebrand Factor gene related to mild bleeding phenotype , 2006, Thrombosis and Haemostasis.
[12] D. Cooper,et al. A novel Alu-mediated 61-kb deletion of the von Willebrand factor (VWF) gene whose breakpoints co-locate with putative matrix attachment regions. , 2006, Blood cells, molecules & diseases.
[13] A. Tosetto,et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM‐1 VWD) , 2006, Journal of thrombosis and haemostasis : JTH.
[14] Rajiv K. Saxena,et al. Gene conversions are a common cause of von Willebrand disease , 2005, British journal of haematology.
[15] A. Federici. Clinical diagnosis of von Willebrand disease , 2004, Haemophilia : the official journal of the World Federation of Hemophilia.
[16] A. Goodeve,et al. Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature , 2004, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.
[17] R. Linde,et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population , 1994, Human Genetics.
[18] A. Srivastava,et al. Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients. , 2003, Blood cells, molecules & diseases.
[19] R. Favier,et al. Two novel mutations, Q1053H and C1060R, located in the D3 domain of von Willebrand factor, are responsible for decreased FVIII‐binding capacity , 2003, British journal of haematology.
[20] É. Fressinaud,et al. Molecular Genetics of Type 2 von Willebrand Disease , 2002, International journal of hematology.
[21] J. Eikenboom,et al. Congenital von Willebrand disease type 3: clinical manifestations, pathophysiology and molecular biology. , 2001, Best practice & research. Clinical haematology.
[22] P. Mannucci,et al. Clinical manifestations and complications of childbirth and replacement therapy in 385 Iranian patients with type 3 von Willebrand disease. , 2000, British journal of haematology.
[23] P. Mannucci,et al. Molecular Characterization of a Multiethnic Group of 21 Patients with Type 3 von Willebrand Disease , 2000, Thrombosis and Haemostasis.
[24] R. Bertina,et al. Characterization of the Genetic Defects in Recessive Type 1 and Type 3 von Willebrand Disease Patients of Italian Origin , 1998, Thrombosis and Haemostasis.
[25] D. Ginsburg,et al. Von Willebrand disease. , 2008, Pediatric clinics of North America.
[26] C. Mazurier,et al. Characterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease , 1994 .
[27] P. Mannucci,et al. Characterization of Partial Gene Deletions in Type III von Willebrand Disease with Alloantibody Inhibitors , 1994, Thrombosis and Haemostasis.
[28] M. Blombäck,et al. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. , 1994, Genomics.
[29] P. Reitsma,et al. Mutations in Severe, Type III von Willebrand’s Disease in the Dutch Population: Candidate Missense and Nonsense Mutations Associated with Reduced Levels of von Willebrand Factor Messenger RNA , 1992, Thrombosis and Haemostasis.
[30] C. Mazurier,et al. Expression of von Willebrand factor "Normandy": an autosomal mutation that mimics hemophilia A. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[31] R. Cody,et al. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[32] D. Mancuso,et al. Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual. , 1990, Blood.
[33] J. Koziol,et al. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[34] A. Federici,et al. Gene deletions correlate with the development of alloantibodies in von Willebrand disease. , 1987, The Journal of clinical investigation.
[35] P. Mannucci,et al. Atherosclerosis and von Willebrand factor , 1984, British journal of haematology.
[36] P. Mannucci,et al. Incidence of severe von Willebrand's disease. , 1982, The New England journal of medicine.