메뉴 건너뛰기




Volumn 57, Issue 6, 2000, Pages 430-434

MEFV mutations in multiplex families with familial Mediterranean fever: Is a particular genotype necessary for amyloidosis?

Author keywords

Amyloidosis; FMF; MEFV mutations

Indexed keywords

ADOLESCENT; ADULT; AMYLOIDOSIS; ARTHRITIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE AMPLIFICATION; GENOTYPE; HOMOZYGOTE; HUMAN; HUMAN CELL; KIDNEY FAILURE; MALE; MISSENSE MUTATION; MOLECULAR CLONING; PERITONITIS; PLEURISY; PRIORITY JOURNAL; SCHOOL CHILD; SIBLING;

EID: 0342859346     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2000.570605.x     Document Type: Article
Times cited : (39)

References (25)
  • 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: 227-253.
    • (1967) Am J Med , vol.43 , pp. 227-253
    • Sohar, E.1    Gafni, J.2    Pras, M.3    Heller, H.4
  • 2
    • 0016201740 scopus 로고
    • Familial Mediterranean fever in Armenians. Analysis of 100 cases
    • Schwabe AD, Peters RS. Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine (Baltimore) 1974: 69: 453-462.
    • (1974) Medicine (Baltimore) , vol.69 , pp. 453-462
    • Schwabe, A.D.1    Peters, R.S.2
  • 3
    • 1842284116 scopus 로고
    • Familial Mediterranean fever (recurrent hereditary polyserositis) in children: Analysis of 88 cases
    • Majeed HA, Barakat M. Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases. Eur J Pediatr 1989: 148: 636-641.
    • (1989) Eur J Pediatr , vol.148 , pp. 636-641
    • Majeed, H.A.1    Barakat, M.2
  • 4
    • 0014503789 scopus 로고
    • Familial Mediterranean fever among the Turkish people
    • Özdemir AI, Sökmen C. Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 1969: 51: 311-316.
    • (1969) Am J Gastroenterol , vol.51 , pp. 311-316
    • Özdemir, A.I.1    Sökmen, C.2
  • 5
    • 0031893195 scopus 로고    scopus 로고
    • Familial Mediterranean fever: From the clinical syndrome to the cloning of the Pyrin gene
    • Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the Pyrin gene. Scand J Rheumatol 1998: 27: 92-97.
    • (1998) Scand J Rheumatol , vol.27 , pp. 92-97
    • Pras, M.1
  • 6
    • 0027201132 scopus 로고
    • Familial mediterranean fever and amyloidosis in children
    • Saatci U, Bakkaloglu A, Ozen S, Besbas N. Familial Mediterranean fever and amyloidosis in children. Acta Paediatr 1993: 82: 705-706.
    • (1993) Acta Paediatr , vol.82 , pp. 705-706
    • Saatci, U.1    Bakkaloglu, A.2    Ozen, S.3    Besbas, N.4
  • 7
    • 0022570984 scopus 로고
    • Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever
    • Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. New Engl J Med 1986: 314: 1001-1005.
    • (1986) New Engl J Med , vol.314 , pp. 1001-1005
    • Zemer, D.1    Pras, M.2    Sohar, E.3    Modan, M.4    Cabili, S.5    Gafni, J.6
  • 8
    • 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
    • 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
  • 9
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium
    • 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
  • 10
    • 0032473920 scopus 로고    scopus 로고
    • Familial Mediterranean fever-Amyloidosis and the Val726Ala mutation
    • Yalçinkaya F, Akar N, Misirlioǧlu M. Familial Mediterranean fever-Amyloidosis and the Val726Ala mutation. New Engl J Med 1998: 338: 993-994.
    • (1998) New Engl J Med , vol.338 , pp. 993-994
    • Yalçinkaya, F.1    Akar, N.2    Misirlioǧlu, M.3
  • 11
    • 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: 268-297.
    • (1998) Medicine , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3
  • 12
    • 0001780779 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in familial Mediterranean fever (A preliminary report)
    • Sonar E, Gafni J, Pras M, eds. Tel Aviv: Freund Publishing House
    • Pras E, Langevitz P, Livneh A et al. Genotype-phenotype correlation in familial Mediterranean fever (A preliminary report). In: Sonar E, Gafni J, Pras M, eds. Familial Mediterranean Fever. Tel Aviv: Freund Publishing House, 1997: 260-264.
    • (1997) Familial Mediterranean Fever , pp. 260-264
    • Pras, E.1    Langevitz, P.2    Livneh, A.3
  • 13
    • 0033362158 scopus 로고    scopus 로고
    • MEFV-Gene analysis in Armenian patients with Familial Mediterranean fever: Diagnostic value and unfavorable renal prognosis of the M694Vhomozygous genotype-genetic and therapeutic implications
    • Cazeneuve C, Sarkisian T, Pecheux C et al. MEFV-Gene analysis in Armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694Vhomozygous 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    Pecheux, C.3
  • 14
    • 13144307083 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)
    • Dewalle M, Domingo C, Rozenbaum M et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998: 6: 95-97.
    • (1998) Eur J Hum Genet , vol.6 , pp. 95-97
    • Dewalle, M.1    Domingo, C.2    Rozenbaum, M.3
  • 15
    • 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. Amyloid 1999: 6: 1-6.
    • (1999) Amyloid , vol.6 , pp. 1-6
    • Livneh, A.1    Langevitz, P.2    Shinar, Y.3
  • 16
    • 0032929738 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in familial Mediterranean fever: Evidence for an association between Met694Val and amyloidosis
    • Shohat M, Magal N, Shohat T et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999: 7: 287-292.
    • (1999) Eur J Hum Genet , vol.7 , pp. 287-292
    • Shohat, M.1    Magal, N.2    Shohat, T.3
  • 17
    • 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: 1879-1885.
    • (1997) Arthritis Rheum , vol.40 , pp. 1879-1885
    • Livneh, A.1    Langevitz, P.2    Zemer, D.3
  • 19
    • 2542509769 scopus 로고    scopus 로고
    • Glomerular lesions other than amyloidosis in patients with familial Mediterranean fever
    • Yalçinkaya F, Tümer N. Glomerular lesions other than amyloidosis in patients with familial Mediterranean fever. Nephrol Dial Transplant 1999: 14: 21-23.
    • (1999) Nephrol Dial Transplant , vol.14 , pp. 21-23
    • Yalçinkaya, F.1    Tümer, N.2
  • 20
    • 0034129448 scopus 로고    scopus 로고
    • Clinical, laboratory and molecular characteristics of children with familial Mediterranean fever-associated vasculitis
    • Tekin M, Yalçinkaya F, Tümer N, Akar N, Misirlioǧlu M, Çakar N. Clinical, laboratory and molecular characteristics of children with familial Mediterranean fever-associated vasculitis. Acta Paediatr 2000: 89: 177-182.
    • (2000) Acta Paediatr , vol.89 , pp. 177-182
    • Tekin, M.1    Yalçinkaya, F.2    Tümer, N.3    Akar, N.4    Misirlioǧlu, M.5    Çakar, N.6
  • 21
    • 0033124080 scopus 로고    scopus 로고
    • Familial mediterranean fever: Clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients
    • Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R. Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 1999: 103: e70.
    • (1999) Pediatrics , vol.103
    • Brik, R.1    Shinawi, M.2    Kepten, I.3    Berant, M.4    Gershoni-Baruch, R.5
  • 22
    • 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: 949-962.
    • (1999) Am J Hum Genet , vol.64 , pp. 949-962
    • Aksentijevich, I.1    Torosyan, Y.2    Samuels, J.3
  • 23
    • 0033630556 scopus 로고    scopus 로고
    • MEFV mutations in Turkish patients suffering from familial Mediterranean fever
    • Akar N, Misirlioǧlu M, Yalçinkaya F et al. MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat (online) 2000: 15: 118-119.
    • (2000) Hum Mutat (Online) , vol.15 , pp. 118-119
    • Akar, N.1    Misirlioǧlu, M.2    Yalçinkaya, F.3
  • 24
    • 0031977279 scopus 로고    scopus 로고
    • Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF)
    • Chen X, Fischel-Ghodsian N, Cercek A et al. Assessment of pyrin gene mutations in Turks with familial Mediterranean fever (FMF). Hum Mutat 1998: 11: 456-460.
    • (1998) Hum Mutat , vol.11 , pp. 456-460
    • Chen, X.1    Fischel-Ghodsian, N.2    Cercek, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.