Literature DB >> 12520004

The MetaFMF website: a high quality tool for meta-analysis of FMF.

Denis Pugnère1, Manuel Ruiz, Cyril Sarrauste de Menthière, Benjamin Masdoua, Jacques Demaille, Isabelle Touitou.   

Abstract

We present here the MetaFMF database (freely accessible at http://fmf.igh.cnrs.fr/metaFMF/index_us.html) that attempts to gather and unify, in a common resource, data on phenotype-genotype correlation in familial Mediterranean fever (FMF). A single accession form, including a large number of quality controls, has been implemented such that data, collected worldwide, are included in an homogeneous manner. The inclusion criterion has the objective to avoid interpretational bias: patients will be included only if they bear at least two mutations. The clinical form has been set up by an International editorial board (12 FMF expert centres), which guarantees the validity of the data. Data are anonymous and submitted by a secure interface, in which the researcher is logged in with a specific ID and password. A pilot study on 211 patients has shown the feasibility and relevance of this project. We anticipate that the use of MetaFMF will enable reliable assessment of phenotype-genotype correlations in FMF, and define a set of severe versus mild mutations/genotypes. It should also highlight reasons for previous inconsistencies in such correlations.

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Year:  2003        PMID: 12520004      PMCID: PMC165544          DOI: 10.1093/nar/gkg097

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  3 in total

Review 1.  The spectrum of Familial Mediterranean Fever (FMF) mutations.

Authors:  I Touitou
Journal:  Eur J Hum Genet       Date:  2001-07       Impact factor: 4.246

2.  A candidate gene for familial Mediterranean fever.

Authors: 
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

3.  Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Authors: 
Journal:  Cell       Date:  1997-08-22       Impact factor: 41.582

  3 in total
  1 in total

1.  INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations.

Authors:  Cyril Sarrauste de Menthière; Stéphane Terrière; Denis Pugnère; Manuel Ruiz; Jacques Demaille; Isabelle Touitou
Journal:  Nucleic Acids Res       Date:  2003-01-01       Impact factor: 16.971

  1 in total

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