메뉴 건너뛰기




Volumn 12, Issue 1, 2012, Pages 31-37

Familial Mediterranean fever: New phenotypes

Author keywords

Familial Mediterranean fever; Genotypes; Mediterranean fever gene; Phenotypes

Indexed keywords

C REACTIVE PROTEIN; COLCHICINE; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

EID: 84866865074     PISSN: 15689972     EISSN: 18730183     Source Type: Journal    
DOI: 10.1016/j.autrev.2012.07.019     Document Type: Review
Times cited : (75)

References (79)
  • 1
    • 0032574208 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Ben-Chetrit E., Levy M. Familial Mediterranean fever. Lancet 1998, 351:659-664.
    • (1998) Lancet , vol.351 , pp. 659-664
    • Ben-Chetrit, E.1    Levy, M.2
  • 4
    • 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
  • 5
    • 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
  • 6
    • 0034658465 scopus 로고    scopus 로고
    • The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
    • Centola M., Wood G., Frucht D.M., Galon J., Aringer M., Farrell C., et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000, 95:3223-3231.
    • (2000) Blood , vol.95 , pp. 3223-3231
    • Centola, M.1    Wood, G.2    Frucht, D.M.3    Galon, J.4    Aringer, M.5    Farrell, C.6
  • 7
    • 8444230096 scopus 로고    scopus 로고
    • Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever
    • Diaz A., Hu C., Kastner D.L., Schaner P., Reginato A.M., Richards N., et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum 2004, 50:3679-3689.
    • (2004) Arthritis Rheum , vol.50 , pp. 3679-3689
    • Diaz, A.1    Hu, C.2    Kastner, D.L.3    Schaner, P.4    Reginato, A.M.5    Richards, N.6
  • 8
    • 44849122715 scopus 로고    scopus 로고
    • The infevers autoinflammatory mutation online registry: update with new genes and functions
    • Milhavet F., Cuisset L., Hoffman H.M., Slim R., El-Shanti H., Aksentijevich I., et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 2008, 29:803-808.
    • (2008) Hum Mutat , vol.29 , pp. 803-808
    • Milhavet, F.1    Cuisset, L.2    Hoffman, H.M.3    Slim, R.4    El-Shanti, H.5    Aksentijevich, I.6
  • 9
    • 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, 103:70-73.
    • (1999) Pediatrics , vol.103 , pp. 70-73
    • Brik, R.1    Shinawi, M.2    Kepten, I.3    Berant, M.4    Gershoni-Baruch, R.5
  • 10
    • 0034879132 scopus 로고    scopus 로고
    • The spectrum of familial Mediterranean fever (FMF) mutations
    • Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001, 9:473-483.
    • (2001) Eur J Hum Genet , vol.9 , pp. 473-483
    • Touitou, I.1
  • 11
    • 0034879079 scopus 로고    scopus 로고
    • 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., et al. Mutation frequency of Familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001, 9:553-555.
    • (2001) Eur J Hum Genet , vol.9 , pp. 553-555
    • Yilmaz, E.1    Ozen, S.2    Balci, B.3    Duzova, A.4    Topaloglu, R.5    Besbas, N.6
  • 12
    • 0036301113 scopus 로고    scopus 로고
    • Genotype\phenotype correlations in Arab patients with familial Mediterranean fever
    • Majeed H.A., El-Shanti H., Al-Khateeb M.S., Rabaiha Z.A. Genotype\phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum 2002, 31:371-376.
    • (2002) Semin Arthritis Rheum , vol.31 , pp. 371-376
    • Majeed, H.A.1    El-Shanti, H.2    Al-Khateeb, M.S.3    Rabaiha, Z.A.4
  • 13
    • 0036224497 scopus 로고    scopus 로고
    • The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
    • Gershoni-Baruch R., Brik R., Shinawi M., Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002, 10:145-149.
    • (2002) Eur J Hum Genet , vol.10 , pp. 145-149
    • Gershoni-Baruch, R.1    Brik, R.2    Shinawi, M.3    Livneh, A.4
  • 15
    • 0027944979 scopus 로고
    • Consanguineous marriage in Turkey and its impact on fertility and mortality
    • Tunçbilek E., Koç I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994, 58:321-329.
    • (1994) Ann Hum Genet , vol.58 , pp. 321-329
    • Tunçbilek, E.1    Koç, I.2
  • 17
    • 78649399918 scopus 로고    scopus 로고
    • Validation of the new pediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders
    • Kondi A., Hentgen V., Piram M., Letierce A., Guillame-Czitrom S., Koné-Paut I. Validation of the new pediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders. Rheumatology (Oxford) 2010, 49:2200-2203.
    • (2010) Rheumatology (Oxford) , vol.49 , pp. 2200-2203
    • Kondi, A.1    Hentgen, V.2    Piram, M.3    Letierce, A.4    Guillame-Czitrom, S.5    Koné-Paut, I.6
  • 18
    • 79960932533 scopus 로고    scopus 로고
    • Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF
    • Ozçakar Z.B., Yalçinkaya F., Cakar N., Acar B., Bilgiç A.E., Uncu N., et al. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr 2011, 170:1055-1057.
    • (2011) Eur J Pediatr , vol.170 , pp. 1055-1057
    • Ozçakar, Z.B.1    Yalçinkaya, F.2    Cakar, N.3    Acar, B.4    Bilgiç, A.E.5    Uncu, N.6
  • 19
    • 34249894731 scopus 로고    scopus 로고
    • Vasculitis in siblings with familial Mediterranean fever: a report of three cases and review of the literature
    • Balbir-Gurman A., Nahir A.M., Braun-Moscovici Y. Vasculitis in siblings with familial Mediterranean fever: a report of three cases and review of the literature. Clin Rheumatol 2007, 26:1183-1185.
    • (2007) Clin Rheumatol , vol.26 , pp. 1183-1185
    • Balbir-Gurman, A.1    Nahir, A.M.2    Braun-Moscovici, Y.3
  • 21
    • 79651473433 scopus 로고    scopus 로고
    • Chronic inflammation in FMF: markers, risk factors, outcomes and therapy
    • Ben-Zvi I., Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol 2010, 7:105-112.
    • (2010) Nat Rev Rheumatol , vol.7 , pp. 105-112
    • Ben-Zvi, I.1    Livneh, A.2
  • 22
    • 0037309582 scopus 로고    scopus 로고
    • Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation
    • Gershoni-Baruch R., Brik R., Lidar M., Shinawi M., Livneh A. Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation. J Rheumatol 2003, 30:308-312.
    • (2003) J Rheumatol , vol.30 , pp. 308-312
    • Gershoni-Baruch, R.1    Brik, R.2    Lidar, M.3    Shinawi, M.4    Livneh, A.5
  • 23
    • 0037388591 scopus 로고    scopus 로고
    • The contribution of genotypes at the MEFV and SSA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever
    • Gershoni-Baruch R., Brik R., Zacks N., Shinawi M., Lidar M., Livneh A. The contribution of genotypes at the MEFV and SSA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 2003, 48:1149-1155.
    • (2003) Arthritis Rheum , vol.48 , pp. 1149-1155
    • Gershoni-Baruch, R.1    Brik, R.2    Zacks, N.3    Shinawi, M.4    Lidar, M.5    Livneh, A.6
  • 24
    • 0034091243 scopus 로고    scopus 로고
    • Higher than expected carrier rates for FMF in various Jewish ethnic groups
    • Stoffman N., Magal N. Higher than expected carrier rates for FMF in various Jewish ethnic groups. Eur J Hum Genet 2000, 8:307-310.
    • (2000) Eur J Hum Genet , vol.8 , pp. 307-310
    • Stoffman, N.1    Magal, N.2
  • 25
    • 0033008274 scopus 로고    scopus 로고
    • MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
    • Livneh A., Langevitz P., Shinar Y., Zaks N., Kastner D.L., Pras M., 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    Zaks, N.4    Kastner, D.L.5    Pras, M.6
  • 26
    • 0035132987 scopus 로고    scopus 로고
    • Amyloidosis induced, end-stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene
    • Ben-Chetrit E., Backenroth R. Amyloidosis induced, end-stage renal disease in patients with familial Mediterranean fever is highly associated with point mutations in the MEFV gene. Ann Rheum Dis 2001, 60:146-149.
    • (2001) Ann Rheum Dis , vol.60 , pp. 146-149
    • Ben-Chetrit, E.1    Backenroth, R.2
  • 27
    • 0036843133 scopus 로고    scopus 로고
    • MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinico-pathological and molecular study
    • Balci B., Tinaztepe K., Yilmaz E., Guçer S., Ozen S., Topaloǧlu R., et al. MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinico-pathological and molecular study. Nephrol Dial Transplant 2002, 17:1921-1923.
    • (2002) Nephrol Dial Transplant , vol.17 , pp. 1921-1923
    • Balci, B.1    Tinaztepe, K.2    Yilmaz, E.3    Guçer, S.4    Ozen, S.5    Topaloǧlu, R.6
  • 28
    • 0032473920 scopus 로고    scopus 로고
    • Familial Mediterranean fever amyloidosis and the Val1726Ala mutation
    • Yalçinkaya F., Akar N., Misirlioglu M. Familial Mediterranean fever amyloidosis and the Val1726Ala mutation. N Eng J Med 1998, 338:993-994.
    • (1998) N Eng J Med , vol.338 , pp. 993-994
    • Yalçinkaya, F.1    Akar, N.2    Misirlioglu, M.3
  • 29
    • 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
  • 30
    • 33745254724 scopus 로고    scopus 로고
    • The inflammatory process of gout and its treatment
    • Cronstein B.N., Terkeltaub R. The inflammatory process of gout and its treatment. Arthritis Res Ther 2006, 8(Suppl. 1):S3.
    • (2006) Arthritis Res Ther , vol.8 , Issue.SUPPL. 1
    • Cronstein, B.N.1    Terkeltaub, R.2
  • 31
    • 51449124322 scopus 로고    scopus 로고
    • Colchicine: a critical appraisal of its mechanism of action and efficacy in crystal-induced inflammation
    • Nuki G. Colchicine: a critical appraisal of its mechanism of action and efficacy in crystal-induced inflammation. Curr Rheumatol Rep 2008, 10:218-227.
    • (2008) Curr Rheumatol Rep , vol.10 , pp. 218-227
    • Nuki, G.1
  • 32
    • 33644852021 scopus 로고    scopus 로고
    • Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: a possible new outlook through microarray analysis
    • Ben-Chetrit E., Bergmann S., Sood R. Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: a possible new outlook through microarray analysis. Rheumatology (Oxford) 2006, 45:274-282.
    • (2006) Rheumatology (Oxford) , vol.45 , pp. 274-282
    • Ben-Chetrit, E.1    Bergmann, S.2    Sood, R.3
  • 33
    • 17844377905 scopus 로고    scopus 로고
    • Pharmacological and clinical basis of treatment of familial Mediterranean fever (FMF) with colchicine or analogues: an update
    • Cerquaglia C., Diaco M., Nucera G., La Regina M., Montalto M., Manna R. Pharmacological and clinical basis of treatment of familial Mediterranean fever (FMF) with colchicine or analogues: an update. Curr Drug Targets Inflamm Allergy 2005, 4:117-124.
    • (2005) Curr Drug Targets Inflamm Allergy , vol.4 , pp. 117-124
    • Cerquaglia, C.1    Diaco, M.2    Nucera, G.3    La Regina, M.4    Montalto, M.5    Manna, R.6
  • 34
    • 84865085470 scopus 로고    scopus 로고
    • 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient
    • x [Epub ahead of print]
    • Camus D., Shinar Y., Aamar S., Langevitz P., Ben-Zvi I., Livneh A., et al. 'Silent' carriage of two familial Mediterranean fever gene mutations in large families with only a single identified patient. Clin Genet Oct. 14 2011, x [Epub ahead of print]. 10.1111/j.1399-0004.2011.01785.
    • (2011) Clin Genet
    • Camus, D.1    Shinar, Y.2    Aamar, S.3    Langevitz, P.4    Ben-Zvi, I.5    Livneh, A.6
  • 35
    • 0035058571 scopus 로고    scopus 로고
    • Familial Mediterranean fever and menstruation
    • Ben-Chetrit E., Ben-Chetrit A. Familial Mediterranean fever and menstruation. BJOG 2001, 108:403-407.
    • (2001) BJOG , vol.108 , pp. 403-407
    • Ben-Chetrit, E.1    Ben-Chetrit, A.2
  • 36
    • 33744774485 scopus 로고    scopus 로고
    • The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever
    • Lidar M., Yaqubov M., Zaks N., Ben-Horin S., Langevitz P., Livneh A. The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol 2006, 33:1089-1092.
    • (2006) J Rheumatol , vol.33 , pp. 1089-1092
    • Lidar, M.1    Yaqubov, M.2    Zaks, N.3    Ben-Horin, S.4    Langevitz, P.5    Livneh, A.6
  • 38
    • 79959235786 scopus 로고    scopus 로고
    • Familial Mediterranean fever - a review
    • Shohat M., Halpern G.J. Familial Mediterranean fever - a review. Genet Med 2011, 13:487-498.
    • (2011) Genet Med , vol.13 , pp. 487-498
    • Shohat, M.1    Halpern, G.J.2
  • 39
    • 35549004467 scopus 로고    scopus 로고
    • Familial Mediterranean fever: clinical, molecular and management advancements
    • Lidar M., Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007, 65:318-324.
    • (2007) Neth J Med , vol.65 , pp. 318-324
    • Lidar, M.1    Livneh, A.2
  • 42
    • 18744399305 scopus 로고    scopus 로고
    • Arthritis as the sole episodic manifestation of familial Mediterranean fever
    • Lidar M., Kedem R., Mor A., Levartovsky D., Langevitz P., Livneh A. Arthritis as the sole episodic manifestation of familial Mediterranean fever. J Rheumatol 2005, 32:859-862.
    • (2005) J Rheumatol , vol.32 , pp. 859-862
    • Lidar, M.1    Kedem, R.2    Mor, A.3    Levartovsky, D.4    Langevitz, P.5    Livneh, A.6
  • 43
    • 33644875570 scopus 로고    scopus 로고
    • Familial Mediterranean fever in a childhood population in eastern Turkey
    • Ertekin V., Selimoglu M.A., Pirim I. Familial Mediterranean fever in a childhood population in eastern Turkey. Pediatr Int 2005, 47:640-644.
    • (2005) Pediatr Int , vol.47 , pp. 640-644
    • Ertekin, V.1    Selimoglu, M.A.2    Pirim, I.3
  • 44
    • 0001397473 scopus 로고
    • Amyloidosis, the sole manifestation of familial Mediterranean fever: further evidence for its genetic nature
    • Blum A., Gafni J., Sodar E., Shibolet S., Heller H. Amyloidosis, the sole manifestation of familial Mediterranean fever: further evidence for its genetic nature. Ann Inter Med 1962, 57:795-799.
    • (1962) Ann Inter Med , vol.57 , pp. 795-799
    • Blum, A.1    Gafni, J.2    Sodar, E.3    Shibolet, S.4    Heller, H.5
  • 45
    • 0027405593 scopus 로고
    • Familial Mediterranean fever in the colchicine era: the fate of a family
    • Zemer D., Livneh A., Pras M., Sohar E. Familial Mediterranean fever in the colchicine era: the fate of a family. Am J Med Genet 1993, 43:340-344.
    • (1993) Am J Med Genet , vol.43 , pp. 340-344
    • Zemer, D.1    Livneh, A.2    Pras, M.3    Sohar, E.4
  • 46
    • 0014739552 scopus 로고
    • Record survival of siblings with familial Mediterranean fever, phenotype 1 and 2
    • Hurwich B.J., Schwartz J., Goldfarb S. Record survival of siblings with familial Mediterranean fever, phenotype 1 and 2. Arch Intern Med 1970, 125:308-311.
    • (1970) Arch Intern Med , vol.125 , pp. 308-311
    • Hurwich, B.J.1    Schwartz, J.2    Goldfarb, S.3
  • 48
    • 0030843586 scopus 로고    scopus 로고
    • Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis
    • Saatçi U., Ozen S., Ozdemir S., Bakkaloglu A., Besbas N., Topaloglu R., et al. Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 1997, 156:619-623.
    • (1997) Eur J Pediatr , vol.156 , pp. 619-623
    • Saatçi, U.1    Ozen, S.2    Ozdemir, S.3    Bakkaloglu, A.4    Besbas, N.5    Topaloglu, R.6
  • 50
    • 33947251299 scopus 로고    scopus 로고
    • Amyloidosis of familial Mediterranean fever (FMF) - insights to FMF phenotype II
    • 782
    • Livneh A. Amyloidosis of familial Mediterranean fever (FMF) - insights to FMF phenotype II. Harefuah 2006, 145:743-745. 782.
    • (2006) Harefuah , vol.145 , pp. 743-745
    • Livneh, A.1
  • 51
    • 0035882523 scopus 로고    scopus 로고
    • Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state
    • Kogan A., Shinar Y., Lidar M., Revivo A., Langevitz P., Padeh S., et al. Common MEFV mutations among Jewish ethnic groups in Israel: high frequency of carrier and phenotype III states and absence of a perceptible biological advantage for the carrier state. Am J Med Genet 2001, 102:272-276.
    • (2001) Am J Med Genet , vol.102 , pp. 272-276
    • Kogan, A.1    Shinar, Y.2    Lidar, M.3    Revivo, A.4    Langevitz, P.5    Padeh, S.6
  • 52
  • 53
    • 27744593756 scopus 로고    scopus 로고
    • MEFV analysis is of particularly weak diagnostic value for recurrent fever in western European Caucasian patients
    • Tchernitchko D., Moutereay S., Legendre M., Delahaye A., Cazeneuve C., Lacombe C., et al. MEFV analysis is of particularly weak diagnostic value for recurrent fever in western European Caucasian patients. Arthritis Rheum 2005, 52:3603-3605.
    • (2005) Arthritis Rheum , vol.52 , pp. 3603-3605
    • Tchernitchko, D.1    Moutereay, S.2    Legendre, M.3    Delahaye, A.4    Cazeneuve, C.5    Lacombe, C.6
  • 54
    • 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., Cruaud C., Caloustian C., Castet V., et al. Non founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998, 7:1317-1325.
    • (1998) Hum Mol Genet , vol.7 , pp. 1317-1325
    • Bernot, A.1    da Silva, C.2    Petit, J.L.3    Cruaud, C.4    Caloustian, C.5    Castet, V.6
  • 55
    • 0037228468 scopus 로고    scopus 로고
    • Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever
    • Padeh S., Shinar Y., Pras E., Zemer D., Langevitz P., Pras M., et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 2003, 30:185-190.
    • (2003) J Rheumatol , vol.30 , pp. 185-190
    • Padeh, S.1    Shinar, Y.2    Pras, E.3    Zemer, D.4    Langevitz, P.5    Pras, M.6
  • 57
    • 0141669189 scopus 로고    scopus 로고
    • MEFV mutations are increased in Behçet's disease and are associated with vascular involvement
    • Atagunduz P., Ergun T., Direskeneli H. MEFV mutations are increased in Behçet's disease and are associated with vascular involvement. Clin Exp Rheumatol 2003, 21(Suppl. 30):S35-S37.
    • (2003) Clin Exp Rheumatol , vol.21 , Issue.SUPPL. 30
    • Atagunduz, P.1    Ergun, T.2    Direskeneli, H.3
  • 58
    • 0035076326 scopus 로고    scopus 로고
    • A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet disease (FMF-BD)
    • Livneh A., Aksentijevich I., Langevitz P., Torosyan Y., G-Shoham N., Shinar Y., et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet disease (FMF-BD). Eur J Hum Genet 2001, 9:191-196.
    • (2001) Eur J Hum Genet , vol.9 , pp. 191-196
    • Livneh, A.1    Aksentijevich, I.2    Langevitz, P.3    Torosyan, Y.4    G-Shoham, N.5    Shinar, Y.6
  • 59
    • 80755132082 scopus 로고    scopus 로고
    • Familial Mediterranean fever and seronegative arthritis
    • Akkoc N., Gul A. Familial Mediterranean fever and seronegative arthritis. Curr Rheumatol Rep 2011, 13:388-394.
    • (2011) Curr Rheumatol Rep , vol.13 , pp. 388-394
    • Akkoc, N.1    Gul, A.2
  • 60
    • 78249280750 scopus 로고    scopus 로고
    • Association of familial Mediterranean fever-related MEFV variations with ankylosing spondilytis
    • Cosan F., Ustek D., Oku B., Duymaz-Tozkir J., Cakiris A., Abaci N., et al. Association of familial Mediterranean fever-related MEFV variations with ankylosing spondilytis. Arthritis Rheum 2010, 62:3232-3236.
    • (2010) Arthritis Rheum , vol.62 , pp. 3232-3236
    • Cosan, F.1    Ustek, D.2    Oku, B.3    Duymaz-Tozkir, J.4    Cakiris, A.5    Abaci, N.6
  • 61
    • 21344474580 scopus 로고    scopus 로고
    • Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene
    • Rabinovich E., Livneh A., Langevitz P., Brezniak N., Shinar E., Pras M., et al. Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. Ann Rheum Dis 2005, 64:1009-1014.
    • (2005) Ann Rheum Dis , vol.64 , pp. 1009-1014
    • Rabinovich, E.1    Livneh, A.2    Langevitz, P.3    Brezniak, N.4    Shinar, E.5    Pras, M.6
  • 62
    • 0033781619 scopus 로고    scopus 로고
    • Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients
    • Yalçinkaya F., Tekin M., Cakar N., Akar E., Akar N., Tümer N. Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients. QJM 2000, 93:681-684.
    • (2000) QJM , vol.93 , pp. 681-684
    • Yalçinkaya, F.1    Tekin, M.2    Cakar, N.3    Akar, E.4    Akar, N.5    Tümer, N.6
  • 63
    • 0033724484 scopus 로고    scopus 로고
    • Phenotype/genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features
    • Konè-Paut I., Dubuc M., Sportouch J., Minodier P., Garnier J.M., Touitou I. Phenotype/genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology (Oxford) 2000, 39:1275-1279.
    • (2000) Rheumatology (Oxford) , vol.39 , pp. 1275-1279
    • Konè-Paut, I.1    Dubuc, M.2    Sportouch, J.3    Minodier, P.4    Garnier, J.M.5    Touitou, I.6
  • 64
    • 0033910042 scopus 로고    scopus 로고
    • Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
    • Shinar Y., Livneh A., Langevitz P., Zaks N., Aksentijevich I., Koziol D.E., et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000, 27:1703-1707.
    • (2000) J Rheumatol , vol.27 , pp. 1703-1707
    • Shinar, Y.1    Livneh, A.2    Langevitz, P.3    Zaks, N.4    Aksentijevich, I.5    Koziol, D.E.6
  • 65
    • 33645462158 scopus 로고    scopus 로고
    • Two sisters with familial Mediterranean fever: lack of correlation between genotype and phenotype?
    • Kutlay S., Sengul S., Keven K., Erturk S., Erbay B. Two sisters with familial Mediterranean fever: lack of correlation between genotype and phenotype?. J Nephrol 2006, 19:104-107.
    • (2006) J Nephrol , vol.19 , pp. 104-107
    • Kutlay, S.1    Sengul, S.2    Keven, K.3    Erturk, S.4    Erbay, B.5
  • 66
    • 0034164577 scopus 로고    scopus 로고
    • The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?
    • Ben-Chetrit E., Lerer I., Malamud E., Domingo C., Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?. Hum Mutat 2000, 15:385-386.
    • (2000) Hum Mutat , vol.15 , pp. 385-386
    • Ben-Chetrit, E.1    Lerer, I.2    Malamud, E.3    Domingo, C.4    Abeliovich, D.5
  • 67
    • 2142857251 scopus 로고    scopus 로고
    • The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever
    • Tchernitchko D., Legendre M., Cazeneuve C., Delahaye A., Neil F., Amselem S. The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever. Hum Mutat 2003, 22:339-340.
    • (2003) Hum Mutat , vol.22 , pp. 339-340
    • Tchernitchko, D.1    Legendre, M.2    Cazeneuve, C.3    Delahaye, A.4    Neil, F.5    Amselem, S.6
  • 68
    • 70450162174 scopus 로고    scopus 로고
    • Is E148Q a benign polymorphism or a disease-causing mutation?
    • Marek-Yagel D., Bar-Joseph I., Pras E., Berkun Y. Is E148Q a benign polymorphism or a disease-causing mutation?. J Rheumatol 2009, 36:2372.
    • (2009) J Rheumatol , vol.36 , pp. 2372
    • Marek-Yagel, D.1    Bar-Joseph, I.2    Pras, E.3    Berkun, Y.4
  • 69
    • 2642568385 scopus 로고    scopus 로고
    • Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial Mediterranean fever in the Turkish population
    • Bakkaloglu A., Duzova A., Ozen S., Balci B., Besbas N., Topaloglu R., et al. Influence of Serum Amyloid A (SAA1) and SAA2 gene polymorphisms on renal amyloidosis, and on SAA/C-reactive protein values in patients with familial Mediterranean fever in the Turkish population. J Rheumatol 2004, 31:1139-1142.
    • (2004) J Rheumatol , vol.31 , pp. 1139-1142
    • Bakkaloglu, A.1    Duzova, A.2    Ozen, S.3    Balci, B.4    Besbas, N.5    Topaloglu, R.6
  • 71
    • 33846070178 scopus 로고    scopus 로고
    • Arg753Gln TLR-2 polymorphism in familial Mediterranean fever: linking the environment to the phenotype in a monogenic inflammatory disease
    • Ozen S., Berdeli A., Turel B., Kutlay S., Yalçincaya F., Arici M., et al. Arg753Gln TLR-2 polymorphism in familial Mediterranean fever: linking the environment to the phenotype in a monogenic inflammatory disease. J Rheumatol 2006, 33:2498-2500.
    • (2006) J Rheumatol , vol.33 , pp. 2498-2500
    • Ozen, S.1    Berdeli, A.2    Turel, B.3    Kutlay, S.4    Yalçincaya, F.5    Arici, M.6
  • 73
    • 0016201740 scopus 로고
    • Familial Mediterranean fever in Armenians. Analysis of 100 cases
    • Schwabe A.D., Peters R.S. Familial Mediterranean fever in Armenians. Analysis of 100 cases. Medicine (Baltimore) 1974, 53:453-462.
    • (1974) Medicine (Baltimore) , vol.53 , pp. 453-462
    • Schwabe, A.D.1    Peters, R.S.2
  • 74
    • 34248571365 scopus 로고    scopus 로고
    • International study group for phenotype-genotype correlation in familial Mediterranean fever. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
    • Touitou I., Sarkisian T., Medlej-Hashim M., Tunca M., Livneh A., Cattan D., et al. International study group for phenotype-genotype correlation in familial Mediterranean fever. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 2007, 56:1706-1712.
    • (2007) Arthritis Rheum , vol.56 , pp. 1706-1712
    • Touitou, I.1    Sarkisian, T.2    Medlej-Hashim, M.3    Tunca, M.4    Livneh, A.5    Cattan, D.6
  • 75
    • 58849097636 scopus 로고    scopus 로고
    • Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease
    • Ozen S., Aktay N., Lainka E., Duzova A., Bakkaloglu A., Kallinich T. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann Rheum Dis 2009, 68:246-248.
    • (2009) Ann Rheum Dis , vol.68 , pp. 246-248
    • Ozen, S.1    Aktay, N.2    Lainka, E.3    Duzova, A.4    Bakkaloglu, A.5    Kallinich, T.6
  • 76
    • 1642458146 scopus 로고    scopus 로고
    • Decreased prevalence of atopy in paediatric patients with familial Mediterranean fever
    • Sackesen C., Bakkaloglu A., Sekerel B., Ozaltin F., Besbas N., Yilmaz E., et al. Decreased prevalence of atopy in paediatric patients with familial Mediterranean fever. Ann Rheum Dis 2004, 63:187-190.
    • (2004) Ann Rheum Dis , vol.63 , pp. 187-190
    • Sackesen, C.1    Bakkaloglu, A.2    Sekerel, B.3    Ozaltin, F.4    Besbas, N.5    Yilmaz, E.6
  • 77
    • 33645879845 scopus 로고    scopus 로고
    • The relations between attacks and menstrual periods and pregnancies of familial Mediterranean fever patients
    • Akar S., Soyturk M., Onen F., Tunca M. The relations between attacks and menstrual periods and pregnancies of familial Mediterranean fever patients. Rheumatol Int 2006, 26:676-679.
    • (2006) Rheumatol Int , vol.26 , pp. 676-679
    • Akar, S.1    Soyturk, M.2    Onen, F.3    Tunca, M.4
  • 78
    • 33645359493 scopus 로고    scopus 로고
    • Familial Mediterranean fever
    • Onen F. Familial Mediterranean fever. Rheumatol Int 2006, 26:489-496.
    • (2006) Rheumatol Int , vol.26 , pp. 489-496
    • Onen, F.1
  • 79
    • 81455158400 scopus 로고    scopus 로고
    • The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever
    • Ben-Zvi I., Brandt B., Berkun Y., Lidar M., Livneh A. The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever. Gene 2012, 491:260-263.
    • (2012) Gene , vol.491 , pp. 260-263
    • Ben-Zvi, I.1    Brandt, B.2    Berkun, Y.3    Lidar, M.4    Livneh, A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.