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304 related items for PubMed ID: 16730661

  • 1. Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
    Goulielmos GN, Fragouli E, Aksentijevich I, Sidiropoulos P, Boumpas DT, Eliopoulos E.
    Biochem Biophys Res Commun; 2006 Jul 14; 345(4):1326-32. PubMed ID: 16730661
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  • 4. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.
    Dodé C, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G.
    Am J Med Genet; 2000 Jun 05; 92(4):241-6. PubMed ID: 10842288
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  • 5. The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis.
    Goulielmos GN, Petraki E, Vassou D, Eliopoulos E, Iliopoulos D, Sidiropoulos P, Aksentijevich I, Kardassis D, Boumpas DT.
    Biochem Biophys Res Commun; 2010 Nov 05; 402(1):141-6. PubMed ID: 20934406
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  • 6. Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever.
    Tone Y, Toma T, Toga A, Sakakibara Y, Wada T, Yabe M, Kusafuka H, Yachie A.
    Mod Rheumatol; 2012 Feb 05; 22(1):45-51. PubMed ID: 21562927
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  • 7. MEFV alterations and population genetics analysis in a large cohort of Greek patients with familial Mediterranean fever.
    Giaglis S, Papadopoulos V, Kambas K, Doumas M, Tsironidou V, Rafail S, Kartalis G, Speletas M, Ritis K.
    Clin Genet; 2007 May 05; 71(5):458-67. PubMed ID: 17489852
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  • 8. Unique spectrum of MEFV mutations in Iranian Jewish FMF patients--clinical and demographic significance.
    Shinar Y, Kuchuk I, Menasherow S, Kolet M, Lidar M, Langevitz P, Livneh A.
    Rheumatology (Oxford); 2007 Nov 05; 46(11):1718-22. PubMed ID: 17938136
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  • 9. Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey.
    Yesilada E, Taskapan H, Gulbay G.
    Gene; 2012 Dec 15; 511(2):371-4. PubMed ID: 23031807
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  • 13. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).
    Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dodé C, Pêcheux C, Nédelec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I.
    Hum Mol Genet; 1998 Aug 15; 7(8):1317-25. PubMed ID: 9668175
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  • 15. Familial Mediterranean fever with amyloidosis associated with novel exon 2 mutation (S1791) of the MEFV gene.
    Timmann C, Mersinli O, Kuhne K, Sievertsen J, Griebel MA, Dieckerhoff J, Horstmann RD.
    Blood Cells Mol Dis; 2003 Aug 15; 31(3):320-3. PubMed ID: 14636645
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  • 18. Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.
    Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S.
    Ann Rheum Dis; 2006 Sep 15; 65(9):1154-7. PubMed ID: 16439437
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  • 19. Three family members with familial Mediterranean fever carrying the M694V mutation showed different clinical presentations.
    Erten S, Erzurum C, Altunoglu A.
    Intern Med; 2012 Sep 15; 51(13):1765-8. PubMed ID: 22790142
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