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EAHAD VARIANT DATABASES | eahad-db.org Reviews
https://eahad-db.org
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eahad-db.org
EAHAD VARIANT DATABASES
http://www.eahad-db.org/citations.html.php
If you find our databases useful, please reference our publications:. Factor IX Mutation Database:. Rallapalli, pm, Kemball-Cook, G., Tuddenham, E.G., Gomez, K., and Perkins, S.J. 2013. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of haemophilia B. 11(7):1329-1340 available from: PM:23617593. VWF Online Database (VWFdb). 37(5):470-479 available from: PM:22102189. 2010 , EAHAD.
EAHAD VARIANT DATABASES
http://www.eahad-db.org/db-policy.html.php
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Mutation Databases. Are maintained and provided as a public service for the clinical, diagnostic and coagulation factor research communities. Beyond limited editorial control and some integrity checks, the quality and accuracy of the record is the responsibility of the submitter, not of the database. The database curators will work with submitters and users of the database to achieve the best quality resource pos...
EAHAD VARIANT DATABASES
http://www.eahad-db.org/people.html.php
Organisation of the EAHAD Variant Databases Project. The EAHAD Coagulation Factors Variant Database Project is administered by the following groups:. EAHAD Variant Database Steering Group. EAHAD Variant Database Curator Group. EAHAD Individual Variant DB Advisory Committees. 2010 , EAHAD. No part of this site may be copied or used in any way without permission.
EAHAD VARIANT DATABASES
http://www.eahad-db.org/submit.html.php
We encourage the submission of coagulation factor variant data from clinical genetics facilities. Variant data is held in both an enhanced EAHAD online DB and in an LOVD-format DB. The basic data in each is identical, and submission of your data to either will, after curation, result in addition of that data to both online DBs. You may submit variant data in one of three different ways. Contact the named gene variant curators (see below) if you would like advice as to the best method for you. 2010 , EAHAD.
EAHAD VARIANT DATABASES
http://www.eahad-db.org/acknowledgment.html.php
EAHAD acknowledges financial support from Pfizer and CSL Behring. 2010 , EAHAD. No part of this site may be copied or used in any way without permission.
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VWFdb Submit Variant
http://vwf.group.shef.ac.uk/submit.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. The new variant registry requires users to register as submitters in order to submit new variant and patient data to VWFdb. Details on how to register as a submitter are given below. If you are already registered as a submitter log in to your account. Before entering a variant submitters are requested to ensure that the variant nomenclature. Is accurate using the Mutalyzer. Tool ( Wildeman et al. Data can only be added for one patient pe...
VWFdb Feedback
http://www.vwf.group.shef.ac.uk/feedback.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. Please use the form below to report any errors / omissions in VWFdb. Any suggestions for additional content will also be welcome. This page is maintained by Dan Hampshire. Department of Cardiovascular Science. 2014 Dr. Dan Hampshire, Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield.
VWFdb References
http://www.vwf.group.shef.ac.uk/references.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. This page is currently under construction. Apologies for any inconvenience caused. This page is maintained by Dan Hampshire. Of the Department of Cardiovascular Science. At the University of Sheffield. 2014 Dr. Dan Hampshire, Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield.
VWFdb Diagnostics/Research
http://www.vwf.group.shef.ac.uk/diagnostic.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. In addition to the information made available on VWFdb, the following resources may also be of use to VWD investigators working in both diagnostics and research laboratories. Please note:. The VWF database manager cannot guarantee the accuracy of the information provided by these external resources. Additional background information on VWD. Summary on VWD ( Goodeve and James. DNA and VWF amino acid sequences. Additional information on VWF.
VWFdb Figures
http://www.vwf.group.shef.ac.uk/figures.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. This page is currently under construction. Apologies for any inconvenience caused. This page is maintained by Dan Hampshire. Of the Department of Cardiovascular Science. At the University of Sheffield. 2014 Dr. Dan Hampshire, Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield.
VWFdb Credits
http://www.vwf.group.shef.ac.uk/credits.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. VWFdb is curated and maintained by Dr. Dan Hampshire, Department of Cardiovascular Science, University of Sheffield, UK. A steering committee has also been established to assist with the curation of submitted variants and to recommend enhancements to VWFdb. Current VWFdb steering committee members:. This page is maintained by Dan Hampshire. Department of Cardiovascular Science.
VWFdb Useful Links
http://www.vwf.group.shef.ac.uk/links.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. The European Association for Haemophilia and Allied Disorders (EAHAD). The International Society on Thrombosis and Haemostasis (ISTH). The Platelet Type von Willebrand disease (PT-VWD) Registry and Database. Von Willebrand factor and von Willebrand disease information reported on Online Mendelian Inheritance in Man (OMIM). The Human Genome Variation Society (HGVS). This page is maintained by Dan Hampshire.
VWFdb Variant Registry
http://www.vwf.group.shef.ac.uk/variant.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. VWFdb now utilises the Leiden Open (source) Variation Database (LOVD) system ( Fokkema et al. To document variation in VWF. This new format combines mutations and polymorphisms into a single registry, eliminating previous confusion due to several VWF. A full alphabetical list of all VWF. Is also available. Should users notice any errors or omissions within the registry please contact. Viewing and searching variant registry.
VWFdb Patient Info
http://www.vwf.group.shef.ac.uk/patient.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. The VWF database manager regrets that he is unable to enter into personal correspondance with patients regarding their von Willebrand disease. International and national haemophilia societies can provide further information about living with von Willebrand disease. The following links should provide some useful information:. The World Federation of Haemophilia (WFH). The UK Haemophilia Society. This page is maintained by Dan Hampshire.
VWFdb Sponsor
http://www.vwf.group.shef.ac.uk/sponsor.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. Funding to support maintenance and improvements to VWFdb is kindly provided by. This page is maintained by Dan Hampshire. Department of Cardiovascular Science. 2014 Dr. Dan Hampshire, Haemostasis Research Group, Department of Cardiovascular Science, University of Sheffield.
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EAHAD VARIANT DATABASES
Welcome to the entry portal for Coagulation Factor Variant Databases supported by the European Association for Haemophilia and Allied Disorders ( EAHAD. The intention of this project is to gather together single gene variant databases involved in clinical bleeding disorders, principally haemophilias A and B and von Willebrand disease, as well as other rarer coagulation factor variants. You may use this portal either to search for reports of known variants, or to submit your own reports for inclusion.
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EAHAD 2014 - 26-28 February 2014 - Brussels Belgium
Dear Colleagues and Friends,. The 7th Annual Congress of the European Association for Haemophilia and Allied Disorders 2014 is to be held in Brussels, the beautiful capital city of Belgium. On behalf of the local Organizing Committee and EAHAD, we have the true honor and the great pleasure to invite you to this very special event. EAHAD objectives are to foster science advancement in the field relating to inherited and acquired bleeding disorders in Europe,. Pleasant and friendly environment. Opening of ...
EAHAD 2016
Accreditation & CME. ABSTRACTS & PRESENTATION GUIDELINES. Dear colleagues and friends. On behalf of the EAHAD and the local Organizing Committee, we have the pleasure and honor to invite you to Malmö, Sweden and the 9th Annual Congress of the European Association for Haemophilia and Allied Disorders to be held on February 3-5, 2016. Looking forward to seeing you all in Malmö 2016! Associate Professor Jan Astermark. President of the Organizing Committee. The website is kindly sponsored by:. 5 October, 2015.
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