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dc.contributor.authorShinar, Y
dc.contributor.authorObici, L
dc.contributor.authorAksentijevich, I
dc.contributor.authorBennetts, B
dc.contributor.authorAustrup, F
dc.contributor.authorCeccherini, I
dc.contributor.authorCosta, J M
dc.contributor.authorDe Leener, A
dc.contributor.authorGattorno, M
dc.contributor.authorKania, U
dc.contributor.authorKone-Paut, I
dc.contributor.authorLezer, S
dc.contributor.authorLivneh, A
dc.contributor.authorMoix, I
dc.contributor.authorNishikomori, R
dc.contributor.authorOzen, Seza
dc.contributor.authorPhylactou, L
dc.contributor.authorRisom, L
dc.contributor.authorRowczenio, D
dc.contributor.authorSarkisian, T
dc.contributor.authorvan Gijn, M E
dc.contributor.authorWitsch-Baumgartner, M
dc.contributor.authorMorris, M
dc.contributor.authorHoffman, H M
dc.contributor.authorTouitou, I
dc.date.accessioned2019-12-10T10:38:18Z
dc.date.available2019-12-10T10:38:18Z
dc.date.issued2012
dc.identifier.issn0003-4967
dc.identifier.urihttps://doi.org/10.1136/annrheumdis-2011-201271
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500529/
dc.identifier.urihttp://hdl.handle.net/11655/14049
dc.description.abstractHereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing., Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.
dc.relation.isversionof10.1136/annrheumdis-2011-201271
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleGuidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalAnnals of the Rheumatic Diseases
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume71
dc.identifier.issue10
dc.identifier.startpage1599
dc.identifier.endpage1605
dc.description.indexPubMed
dc.description.indexWoS
dc.description.indexScopus


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