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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.


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.


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.


Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL.

Am J Hum Genet. 1999 Apr;64(4):949-62.


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;7(8):1317-25.


A candidate gene for familial Mediterranean fever.

French FMF Consortium.

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


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. Epub 2006 May 15.


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 5;92(4):241-6.


Familial Mediterranean Fever in Crete: a genetic and structural biological approach in a population of 'intermediate risk'.

Fragouli E, Eliopoulos E, Petraki E, Sidiropoulos P, Aksentijevich I, Galanakis E, Kritikos H, Repa A, Fragiadakis G, Boumpas D, Goulielmos GN.

Clin Genet. 2008 Feb;73(2):152-9. doi: 10.1111/j.1399-0004.2007.00948.x. Epub 2007 Dec 29.


Pyrin/marenostrin mutations in familial Mediterranean fever.

Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN.

QJM. 1998 Sep;91(9):603-6.


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.


Familial Mediterranean fever and E148Q pyrin gene mutation in Greece.

Konstantopoulos K, Kanta A, Lilakos K, Papanikolaou G, Meletis I.

Int J Hematol. 2005 Jan;81(1):26-8.


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.


Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.

Dodé C, Hazenberg BP, Pêcheux C, Cattan D, Moulin B, Barthélémy A, Gubler MC, Delpech M, Grateau G.

Nephrol Dial Transplant. 2002 Jul;17(7):1212-7.


MEFV gene 3'-UTR Alu repeat polymorphisms in patients with familial Mediterranean fever.

Ustek D, Ekmekçi C, Oku B, Coşan F, Cakiris A, Abaci N, Celik S, Kamali S, Hatemi G, Kasapçopur O, Ozdoğan H, Gül A.

Clin Exp Rheumatol. 2008 Jul-Aug;26(4 Suppl 50):S72-6.


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.


Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?

Ozen S, Bakkaloglu A, Yilmaz E, Duzova A, Balci B, Topaloglu R, Besbas N.

J Rheumatol. 2003 Sep;30(9):2014-8.

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