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Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.

Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL.

Medicine (Baltimore). 1998 Jul;77(4):268-97. Review.


The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases.

Centola M, Aksentijevich I, Kastner DL.

Hum Mol Genet. 1998;7(10):1581-8. Review.


Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.

Sood R, Blake T, Aksentijevich I, Wood G, Chen X, Gardner D, Shelton DA, Mangelsdorf M, Orsborn A, Pras E, Balow JE Jr, Centola M, Deng Z, Zaks N, Chen X, Richards N, Fischel-Ghodsian N, Rotter JI, Pras M, Shohat M, Deaven LL, Gumucio DL, Callen DF, Richards RI, Doggett NA, et al.

Genomics. 1997 May 15;42(1):83-95.


Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13.

Fischel-Ghodsian N, Bu X, Prezant TR, Oeztas S, Huang ZS, Bohlman MC, Rotter JI, Shohat M.

Am J Med Genet. 1993 Jul 1;46(6):689-93.


[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A.

Sante. 2004 Oct-Dec;14(4):261-6. Review. French.


Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF).

Chen X, Fischel-Ghodsian N, Cercek A, Hamon M, Ogur G, Lotan R, Danon Y, Shohat M.

Hum Mutat. 1998;11(6):456-60.


A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups.

Balow JE Jr, Shelton DA, Orsborn A, Mangelsdorf M, Aksentijevich I, Blake T, Sood R, Gardner D, Liu R, Pras E, Levy EN, Centola M, Deng Z, Zaks N, Wood G, Chen X, Richards N, Shohat M, Livneh A, Pras M, Doggett NA, Collins FS, Liu PP, Rotter JI, Kastner DL, et al.

Genomics. 1997 Sep 15;44(3):280-91.


Gene localization for an autosomal dominant familial periodic fever to 12p13.

Mulley J, Saar K, Hewitt G, Rüschendorf F, Phillips H, Colley A, Sillence D, Reis A, Wilson M.

Am J Hum Genet. 1998 Apr;62(4):884-9.


Isolation, genomic organization, and expression analysis of the mouse and rat homologs of MEFV, the gene for familial mediterranean fever.

Chae JJ, Centola M, Aksentijevich I, Dutra A, Tran M, Wood G, Nagaraju K, Kingma DW, Liu PP, Kastner DL.

Mamm Genome. 2000 Jun;11(6):428-35.


Two novel mutations R653H and E230K in the Mediterranean fever gene associated with disease.

Timmann C, Muntau B, Kuhne K, Gelhaus A, Horstmann RD.

Mutat Res. 2001 Aug 8;479(1-2):235-9.


Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.

Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen L, Sutherland GR, Richards RI, Ramsburg M, et al.

Am J Hum Genet. 1993 Aug;53(2):451-61.


The spectrum of Familial Mediterranean Fever (FMF) mutations.

Touitou I.

Eur J Hum Genet. 2001 Jul;9(7):473-83. Review.


A candidate gene for familial Mediterranean fever.

French FMF Consortium.

Nat Genet. 1997 Sep;17(1):25-31.


The genetic basis of autosomal dominant familial Mediterranean fever.

Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soytürk M, Akar S, Pepys MB, Tunca M, Hawkins PN.

QJM. 2000 Apr;93(4):217-21.


Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.

Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M.

Eur J Hum Genet. 2001 Jul;9(7):553-5.


Construction of an approximately 700-kb transcript map around the familial Mediterranean fever locus on human chromosome 16p13.3.

Centola M, Chen X, Sood R, Deng Z, Aksentijevich I, Blake T, Ricke DO, Chen X, Wood G, Zaks N, Richards N, Krizman D, Mansfield E, Apostolou S, Liu J, Shafran N, Vedula A, Hamon M, Cercek A, Kahan T, Gumucio D, Callen DF, Richards RI, Moyzis RK, Doggett NA, Collins FS, Liu PP, Fischel-Ghodsian N, Kastner DL.

Genome Res. 1998 Nov;8(11):1172-91.


The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.

Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL.

Am J Hum Genet. 2001 Aug;69(2):301-14. Epub 2001 Jul 6. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.


Familial Mediterranean fever in three Japanese patients, and a comparison of the frequency of MEFV gene mutations in Japanese and Mediterranean populations.

Sugiura T, Kawaguchi Y, Fujikawa S, Hirano Y, Igarashi T, Kawamoto M, Takagi K, Hara M, Kamatani N.

Mod Rheumatol. 2008;18(1):57-9. Epub 2007 Dec 22.


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