Clinical utility gene card for: von Willebrand disease.
作者信息
Cumming Anthony M, Keeney Stephen, Jenkins P Vincent, Nash Michael J, O'Donnell James S
机构信息
Molecular Diagnostics Centre, University Department of Haematology, Manchester Royal Infirmary, Manchester, UK.
出版信息
Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.222. Epub 2011 Jan 5.
Abstract
摘要
相似文献
1
Clinical utility gene card for: von Willebrand disease.
Eur J Hum Genet. 2011 May;19(5). doi: 10.1038/ejhg.2010.222. Epub 2011 Jan 5.
2
Diagnosis and treatment of von Willebrand disease.
Hematol Oncol Clin North Am. 2004 Dec;18(6):1277-99, viii. doi: 10.1016/j.hoc.2004.07.006.
3
Genetic testing in von Willebrand disease: a rebuttal.
J Thromb Haemost. 2010 Apr;8(4):860; author reply 861. doi: 10.1111/j.1538-7836.2010.03765.x. Epub 2010 Jan 21.
4
von Willebrand Disease in Pediatrics: Evaluation and Management.
Hematol Oncol Clin North Am. 2019 Jun;33(3):425-438. doi: 10.1016/j.hoc.2019.01.010.
5
[Inborn and acquired von Willebrand disease].
Hamostaseologie. 2008 Dec;28(5):312-9.
6
Genetic testing for von Willebrand disease: the case for.
J Thromb Haemost. 2010 Jan;8(1):13-6. doi: 10.1111/j.1538-7836.2009.03670.x. Epub 2009 Oct 26.
7
Diagnosis and treatment of von Willebrand disease: new perspectives and nuances.
Haemophilia. 2007 Dec;13 Suppl 5:3-14. doi: 10.1111/j.1365-2516.2007.01581.x.
8
A practical approach to genetic testing for von Willebrand disease.
Mayo Clin Proc. 2006 May;81(5):679-91. doi: 10.4065/81.5.679.
9
von Willebrand disease: recent advances in pathophysiology and treatment.
Am J Med Sci. 1998 Aug;316(2):77-86. doi: 10.1097/00000441-199808000-00003.
10
von Willebrand Disease: A Concise Review and Update for the Practicing Physician.
Clin Appl Thromb Hemost. 2017 Nov;23(8):900-910. doi: 10.1177/1076029616675969. Epub 2016 Dec 5.
本文引用的文献
1
Genetic testing in von Willebrand disease: a rebuttal.
J Thromb Haemost. 2010 Apr;8(4):860; author reply 861. doi: 10.1111/j.1538-7836.2010.03765.x. Epub 2010 Jan 21.
2
Genetic testing for von Willebrand disease: the case for.
J Thromb Haemost. 2010 Jan;8(1):13-6. doi: 10.1111/j.1538-7836.2009.03670.x. Epub 2009 Oct 26.
3
The mutation spectrum associated with type 3 von Willebrand disease in a cohort of patients from the north west of England.
Haemophilia. 2009 Sep;15(5):1048-57. doi: 10.1111/j.1365-2516.2009.02059.x. Epub 2009 Jul 10.
4
Genetic testing for von Willebrand disease: the case against.
J Thromb Haemost. 2010 Jan;8(1):6-12. doi: 10.1111/j.1538-7836.2009.03482.x. Epub 2009 May 12.
5
The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors' Organisation Haemophilia Genetics Laboratory Network.
Haemophilia. 2008 Sep;14(5):1099-111. doi: 10.1111/j.1365-2516.2008.01813.x. Epub 2008 Jul 14.
6
Genetic defects in von Willebrand disease type 3 in Indian and Greek patients.
Blood Cells Mol Dis. 2008 Sep-Oct;41(2):219-22. doi: 10.1016/j.bcmd.2008.03.004. Epub 2008 May 16.
7
The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.
Blood. 2007 Jan 1;109(1):145-54. doi: 10.1182/blood-2006-05-021105..
8
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease.
Thromb Haemost. 2006 Nov;96(5):630-41.
9
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.
10
Molecular defects in type 3 von Willebrand disease: updated results from 40 multiethnic patients.
Blood Cells Mol Dis. 2003 May-Jun;30(3):264-70. doi: 10.1016/s1079-9796(03)00033-0.
Zotero 插件