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Volumn 51, Issue 9, 2005, Pages 1725-1727

Multiplex molecular diagnosis of MEFV mutations in patients with Familial Mediterranean fever by light-cycler real-time PCR

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMYLOIDOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; FAMILIAL MEDITERRANEAN FEVER; GENE; GENE MUTATION; MEFV GENE; REAL TIME POLYMERASE CHAIN REACTION;

EID: 24144453542     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2005.050344     Document Type: Article
Times cited : (5)

References (20)
  • 1
    • 0002116633 scopus 로고
    • Benign paroxysmal peritonitis
    • Siegal S. Benign paroxysmal peritonitis. Ann Intern Med 1945;23:1-21.
    • (1945) Ann Intern Med , vol.23 , pp. 1-21
    • Siegal, S.1
  • 2
    • 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
    • Review
    • Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, 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. [Review]. Medicine (Baltimore) 1998;77:268-97.
    • (1998) Medicine (Baltimore) , vol.77 , pp. 268-297
    • Samuels, J.1    Aksentijevich, I.2    Torosyan, Y.3    Centola, M.4    Deng, Z.5    Sood, R.6
  • 3
    • 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, Pecheux C, Dervichian M, Nedelec B, Reinert P, 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    Pecheux, C.3    Dervichian, M.4    Nedelec, B.5    Reinert, P.6
  • 4
    • 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, Chen X, Dagan T, Mimouni A, et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999;7:287-92.
    • (1999) Eur J Hum Genet , vol.7 , pp. 287-292
    • Shohat, M.1    Magal, N.2    Shohat, T.3    Chen, X.4    Dagan, T.5    Mimouni, A.6
  • 5
    • 0034186466 scopus 로고    scopus 로고
    • Familial Mediterranean fever: Effects of genotype and ethnicity on inflammatory attacks and amyloidosis
    • Mimouni A, Magal N, Stoffman N, Shohat T, Minasian A, Krasnov M, et al. Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis. Pediatrics 2000;105:E70.
    • (2000) Pediatrics , vol.105
    • Mimouni, A.1    Magal, N.2    Stoffman, N.3    Shohat, T.4    Minasian, A.5    Krasnov, M.6
  • 7
    • 2342558725 scopus 로고    scopus 로고
    • The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus
    • Aldea A, Calafell F, Arostegui JI, Lao O, Rius J, Plaza S, et al. The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus. Hum Mutat 2004;23:399.
    • (2004) Hum Mutat , vol.23 , pp. 399
    • Aldea, A.1    Calafell, F.2    Arostegui, J.I.3    Lao, O.4    Rius, J.5    Plaza, S.6
  • 9
    • 0036016985 scopus 로고    scopus 로고
    • M. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
    • Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I, et al. M. Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test 2002;6:15-21.
    • (2002) Genet Test , vol.6 , pp. 15-21
    • Deltas, C.C.1    Mean, R.2    Rossou, E.3    Costi, C.4    Koupepidou, P.5    Hadjiyanni, I.6
  • 10
    • 0037269074 scopus 로고    scopus 로고
    • Discovery of old diseases: The molecular approach
    • Deltas CC. Discovery of old diseases: the molecular approach [Letter]. Eur J Hum Genet 2003;11:3-4.
    • (2003) Eur J Hum Genet , vol.11 , pp. 3-4
    • Deltas, C.C.1
  • 12
    • 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
  • 13
    • 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
  • 14
    • 1542782087 scopus 로고    scopus 로고
    • The tumor necrosis factor α-dependent activation of the human Mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP β and NF κB p65
    • Papin S, Cazeneuve C, Duquesnoy P, Jeru I, Sahali D, Amselem S. The tumor necrosis factor α-dependent activation of the human Mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP β and NF κB p65. J Biol Chem 2003;278:48839-47.
    • (2003) J Biol Chem , vol.278 , pp. 48839-48847
    • Papin, S.1    Cazeneuve, C.2    Duquesnoy, P.3    Jeru, I.4    Sahali, D.5    Amselem, S.6
  • 15
    • 13444249533 scopus 로고    scopus 로고
    • The pyrin family of fever genes. Unmasking genetic determinants of autoinflammatory disease
    • Shinkai K, Kilcline C, Connolly MK, Frieden IJ. The pyrin family of fever genes. Unmasking genetic determinants of autoinflammatory disease. Arch Dermatol 2005;141:242-7.
    • (2005) Arch Dermatol , vol.141 , pp. 242-247
    • Shinkai, K.1    Kilcline, C.2    Connolly, M.K.3    Frieden, I.J.4
  • 16
    • 0032921340 scopus 로고    scopus 로고
    • Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler
    • von Ahsen N, Schutz E, Armstrong VW, Oellerich M. Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofolate reductase (C677T) by real-time fluorescence PCR with the LightCycler. Clin Chem 1999;45:694-6.
    • (1999) Clin Chem , vol.45 , pp. 694-696
    • Von Ahsen, N.1    Schutz, E.2    Armstrong, V.W.3    Oellerich, M.4
  • 17
    • 0033961406 scopus 로고    scopus 로고
    • Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with LightCycler
    • Aoshima T, Sekido Y, Miyazaki T, Kajita M, Mimura S, Watanabe K, et al. Rapid detection of deletion mutations in inherited metabolic diseases by melting curve analysis with LightCycler. Clin Chem 2000;46:119-22.
    • (2000) Clin Chem , vol.46 , pp. 119-122
    • Aoshima, T.1    Sekido, Y.2    Miyazaki, T.3    Kajita, M.4    Mimura, S.5    Watanabe, K.6
  • 18
    • 0032858222 scopus 로고    scopus 로고
    • Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes
    • Mangasser-Stephan K, Tag C, Reiser A, Gressner AM. Rapid genotyping of hemochromatosis gene mutations on the LightCycler with fluorescent hybridization probes. Clin Chem 1999;45:1875-8.
    • (1999) Clin Chem , vol.45 , pp. 1875-1878
    • Mangasser-Stephan, K.1    Tag, C.2    Reiser, A.3    Gressner, A.M.4
  • 19
    • 0032857973 scopus 로고    scopus 로고
    • High-speed detection of the two common a-L-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves
    • Aslanidis C, Nauck M, Schmitz G. High-speed detection of the two common a-L-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves. Clin Chem 1999;45:1872-5.
    • (1999) Clin Chem , vol.45 , pp. 1872-1875
    • Aslanidis, C.1    Nauck, M.2    Schmitz, G.3
  • 20
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of familial Mediterranean fever (FMF) mutations
    • Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations [Review]. Eur J Hum Genet 2001;9:473-83.
    • (2001) Eur J Hum Genet , vol.9 , pp. 473-483
    • Touitou, I.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.