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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).
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. Goodeve A, et al. Among authors: ingerslev j. Blood. 2007 Jan 1;109(1):112-21. doi: 10.1182/blood-2006-05-020784. Epub 2006 Sep 19. Blood. 2007. PMID: 16985174 Free article.
Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort.
Hampshire DJ, Abuzenadah AM, Cartwright A, Al-Shammari NS, Coyle RE, Eckert M, Al-Buhairan AM, Messenger SL, Budde U, Gürsel T, Ingerslev J, Peake IR, Goodeve AC. Hampshire DJ, et al. Among authors: ingerslev j. Thromb Haemost. 2013 Aug;110(2):264-74. doi: 10.1160/TH13-02-0135. Epub 2013 May 23. Thromb Haemost. 2013. PMID: 23702511 Free PMC article.
Response to desmopressin is influenced by the genotype and phenotype in type 1 von Willebrand disease (VWD): results from the European Study MCMDM-1VWD.
Castaman G, Lethagen S, Federici AB, Tosetto A, Goodeve A, Budde U, Batlle J, Meyer D, Mazurier C, Fressinaud E, Goudemand J, Eikenboom J, Schneppenheim R, Ingerslev J, Vorlova Z, Habart D, Holmberg L, Pasi J, Hill F, Peake I, Rodeghiero F. Castaman G, et al. Among authors: ingerslev j. Blood. 2008 Apr 1;111(7):3531-9. doi: 10.1182/blood-2007-08-109231. Epub 2008 Jan 29. Blood. 2008. PMID: 18230755 Free article. Clinical Trial.
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).
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. Haberichter SL, et al. Among authors: ingerslev j. Blood. 2008 May 15;111(10):4979-85. doi: 10.1182/blood-2007-09-110940. Epub 2008 Mar 14. Blood. 2008. PMID: 18344424 Free PMC article.
Diagnosis of von Willebrand disease.
Ingerslev J, Gürsel T. Ingerslev J, et al. Haemophilia. 1999 May;5 Suppl 2:50-6. doi: 10.1046/j.1365-2516.1999.0050s2050.x. Haemophilia. 1999. PMID: 23401900
Expression of 14 von Willebrand factor mutations identified in patients with type 1 von Willebrand disease from the MCMDM-1VWD study.
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. Eikenboom J, et al. Among authors: ingerslev j. J Thromb Haemost. 2009 Aug;7(8):1304-12. doi: 10.1111/j.1538-7836.2009.03486.x. Epub 2009 Jun 30. J Thromb Haemost. 2009. PMID: 19566550 Free article.
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, Ketterling RP, Kazazian HH Jr, Négrier C, Vinciguerra C, Gitschier J, Goossens M, Girodon E, Ghanem N, Plassa F, Lavergne JM, Vidaud M, Costa JM, Laurian Y, Lin SW, Lin SR, Shen MC, Lillicrap D, Taylor SA, Windsor S, Valleix SV, Nafa K, Sultan Y, Delpech M, Vnencak-Jones CL, Phillips JA 3rd, Ljung RC, Koumbarelis E, Gialeraki A, Mandalaki T, Jenkins PV, Collins PW, Pasi KJ, Goodeve A, Peake I, Preston FE, Schwartz M, Scheibel E, Ingerslev J, Cooper DN, Millar DS, Kakkar VV, Giannelli F, Naylor JA, Tizzano EF, Baiget M, Domenech M, Altisent C, Tusell J, Beneyto M, Lorenzo JI, Gaucher C, Mazurier C, Peerlinck K, Matthijs G, Cassiman JJ, Vermylen J, Mori PG, Acquila M, Caprino D, Inaba H. Antonarakis SE, et al. Among authors: ingerslev j. Blood. 1995 Sep 15;86(6):2206-12. Blood. 1995. PMID: 7662970 Free article.
292 results