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Volumn 93, Issue 4, 2000, Pages 217-221

The genetic basis of autosomal dominant familial Mediterranean fever

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID A PROTEIN; MARENOSTRIN; METHIONINE; PROTEIN; PYRIN; UNCLASSIFIED DRUG;

EID: 0034031649     PISSN: 14602725     EISSN: None     Source Type: Journal    
DOI: 10.1093/qjmed/93.4.217     Document Type: Article
Times cited : (178)

References (13)
  • 1
    • 0014118417 scopus 로고
    • Familial Mediterranean fever. A survey of 470 cases and review of the literature
    • Sohar E, Gafni J, Pras M, Heller H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J Med 1967; 43:227-53.
    • (1967) Am J Med , vol.43 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3    Heller, H.4
  • 2
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17:25-31.
    • (1997) Nat Genet , vol.17 , pp. 25-31
  • 3
    • 0030745449 scopus 로고    scopus 로고
    • Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
    • The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 1997; 90:797-807.
    • (1997) Cell , vol.90 , pp. 797-807
  • 4
    • 7344255810 scopus 로고    scopus 로고
    • Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
    • Bernot A, da Silva C, Petit J-L, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998; 7:1317-25.
    • (1998) Hum Mol Genet , vol.7 , pp. 1317-1325
    • Bernot, A.1    Da Silva, C.2    Petit, J.-L.3
  • 6
    • 0033008274 scopus 로고    scopus 로고
    • MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
    • Livneh A, Langevitz P, Shinar Y, et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Int J Exp Clin Invest 1999; 6:1-6.
    • (1999) Int J Exp Clin Invest , vol.6 , pp. 1-6
    • Livneh, A.1    Langevitz, P.2    Shinar, Y.3
  • 7
    • 0031814513 scopus 로고    scopus 로고
    • 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, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 1998; 77:268-97.
    • (1998) Medicine , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3
  • 8
    • 18244429610 scopus 로고    scopus 로고
    • 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, et al. 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. Am J Hum Genet 1999; 64:949-62.
    • (1999) Am J Hum Genet , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3
  • 9
    • 0033362158 scopus 로고    scopus 로고
    • MEFV-gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - Genetic and therapeutic implications
    • Cazeneuve C, Sarkisian T, Pêcheux C, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - genetic and therapeutic implications. Am J Hum Genet 1999; 65:88-97.
    • (1999) Am J Hum Genet , vol.65 , pp. 88-97
    • Cazeneuve, C.1    Sarkisian, T.2    Pêcheux, C.3
  • 10
    • 0030783102 scopus 로고    scopus 로고
    • Criteria for the diagnosis of familial Mediterranean fever
    • Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40:1879-85.
    • (1997) Arthritis Rheum , vol.40 , pp. 1879-1885
    • Livneh, A.1    Langevitz, P.2    Zemer, D.3
  • 11
    • 0025025397 scopus 로고
    • Evaluation of systemic amyloidosis by scintigraphy with 1231-labeled serum amyloid P component
    • Hawkins PN, Lavender JP, Pepys MB. Evaluation of systemic amyloidosis by scintigraphy with 1231-labeled serum amyloid P component. N Engl J Med 1990; 323:508-13.
    • (1990) N Engl J Med , vol.323 , pp. 508-513
    • Hawkins, P.N.1    Lavender, J.P.2    Pepys, M.B.3
  • 12
    • 0032710431 scopus 로고    scopus 로고
    • Autosomal dominant recurrent fevers. Clinical and genetic aspects
    • McDermott MF. Autosomal dominant recurrent fevers. Clinical and genetic aspects. Rev Rheum 1999; 66:484-91.
    • (1999) Rev Rheum , vol.66 , pp. 484-491
    • McDermott, M.F.1
  • 13
    • 0033515520 scopus 로고    scopus 로고
    • Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    • McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97:133-44.
    • (1999) Cell , vol.97 , pp. 133-144
    • McDermott, M.F.1    Aksentijevich, I.2    Galon, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.