Literature DB >> 25407006

Clinical utility gene card for: prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes).

Martina Witsch-Baumgartner1, Isabelle Touitou2.   

Abstract

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Year:  2014        PMID： 25407006      PMCID： PMC4795104          DOI： 10.1038/ejhg.2014.257

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy.

Authors:  Isabelle Jéru; Véronique Hentgen; Sylvain Normand; Philippe Duquesnoy; Emmanuelle Cochet; Adriana Delwail; Gilles Grateau; Sandrine Marlin; Serge Amselem; Jean-Claude Lecron
Journal:  Arthritis Rheum       Date:  2011-07

2.  Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics.

Authors:  E Lainka; U Neudorf; P Lohse; C Timmann; M Bielak; S Stojanov; K Huss; R von Kries; T Niehues
Journal:  Klin Padiatr       Date:  2010-11-05       Impact factor: 1.349

3.  Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France.

Authors:  L Cuisset; I Jeru; B Dumont; A Fabre; E Cochet; J Le Bozec; M Delpech; S Amselem; I Touitou
Journal:  Ann Rheum Dis       Date:  2010-11-24       Impact factor: 19.103

4.  Criteria for the diagnosis of familial Mediterranean fever.

Authors:  A Livneh; P Langevitz; D Zemer; N Zaks; S Kees; T Lidar; A Migdal; S Padeh; M Pras
Journal:  Arthritis Rheum       Date:  1997-10

5.  Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever.

Authors:  Mustafa Solak; Handen Yildiz; Resit Koken; Muggan Erdogan; Betul Eser; Tolga Sen; Neslihan Evirgen; Solmaz Erdem; Eurim Arikan
Journal:  Genet Test       Date:  2008-09

6.  Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.

Authors:  Ruhan Duşunsel; Ismail Dursun; Zübeyde Gündüz; M Hakan Poyrazoğlu; Metin Kaya Gürgöze; Munis Dundar
Journal:  Pediatr Int       Date:  2008-04       Impact factor: 1.524

7.  Mutations in NALP12 cause hereditary periodic fever syndromes.

Authors:  I Jéru; P Duquesnoy; T Fernandes-Alnemri; E Cochet; J W Yu; M Lackmy-Port-Lis; E Grimprel; J Landman-Parker; V Hentgen; S Marlin; K McElreavey; T Sarkisian; G Grateau; E S Alnemri; S Amselem
Journal:  Proc Natl Acad Sci U S A       Date:  2008-01-29       Impact factor: 11.205

Review 8.  [Periodic fever syndrome/autoinflammatory syndrome].

Authors:  I Kötter; J Schedel; J B Kümmerle-Deschner
Journal:  Z Rheumatol       Date:  2009-03       Impact factor: 1.372

9.  Guidelines for the genetic diagnosis of hereditary recurrent fevers.

Authors:  Y Shinar; L Obici; I Aksentijevich; B Bennetts; F Austrup; I Ceccherini; J M Costa; A De Leener; M Gattorno; U Kania; I Kone-Paut; S Lezer; A Livneh; I Moix; R Nishikomori; S Ozen; L Phylactou; L Risom; D Rowczenio; T Sarkisian; M E van Gijn; M Witsch-Baumgartner; M Morris; H M Hoffman; I Touitou
Journal:  Ann Rheum Dis       Date:  2012-06-01       Impact factor: 19.103
  9 in total

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