메뉴 건너뛰기




Volumn 15, Issue 9, 2007, Pages 911-916

Population genetics of familial Mediterranean fever: A review

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; GENE PRODUCT; MEDITERRANEAN FEVER PROTEIN; PROTEIN MEFV; UNCLASSIFIED DRUG;

EID: 34548186724     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201869     Document Type: Review
Times cited : (55)

References (74)
  • 1
    • 0001780779 scopus 로고    scopus 로고
    • Genotype phenotype correlation in familial Mediterranean fever (a preliminary report)
    • Sohar 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 Sohar E, Gafni J, Pras M (eds).: Familial Mediterranean Fever. Tel Aviv: Freund Publishing House, 1997, pp 260-264.
    • (1997) Familial Mediterranean Fever , pp. 260-264
    • Pras, E.1    Langevitz, P.2    Livneh, A.3
  • 2
    • 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
  • 3
    • 0033527626 scopus 로고    scopus 로고
    • Late-onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics
    • Tamir N, Langevitz P, Zemer D et al: Late-onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Hum Genet 1999; 87 30-35.
    • (1999) Am J Hum Genet , vol.87 , pp. 30-35
    • Tamir, N.1    Langevitz, P.2    Zemer, D.3
  • 4
    • 0033362158 scopus 로고    scopus 로고
    • MEFV-gene analysis in Armenians patients with FMF: Diagnostic value, unfavorable renal prognosis of the M694V homozygous genotype, genetic and therapeutic implications
    • Cazeneuve C, Sarkisian T, Pecheux C et al: MEFV-gene analysis in Armenians patients with FMF: Diagnostic value, 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
  • 5
    • 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
  • 6
    • 0034976206 scopus 로고    scopus 로고
    • The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease
    • Brik R, Shinawi M, Kasinetz L, Gershoni-Baruch R: The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum 2001; 44: 1416-1419.
    • (2001) Arthritis Rheum , vol.44 , pp. 1416-1419
    • Brik, R.1    Shinawi, M.2    Kasinetz, L.3    Gershoni-Baruch, R.4
  • 7
    • 0037388591 scopus 로고    scopus 로고
    • The contribution of genotypes at the MEFV and SAA1 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 SAA1 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
  • 9
    • 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
  • 10
    • 0032473828 scopus 로고    scopus 로고
    • Familial Mediterranean fever gene
    • Holmes A, Booth D, Hawkins P: Familial Mediterranean fever gene. N Engl Med 1998; 338: 992-993.
    • (1998) N Engl Med , vol.338 , pp. 992-993
    • Holmes, A.1    Booth, D.2    Hawkins, P.3
  • 11
    • 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
  • 12
    • 0034782528 scopus 로고    scopus 로고
    • Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148
    • Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN: Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. Q J Med 2001; 94: 527-531.
    • (2001) Q J Med , vol.94 , pp. 527-531
    • Booth, D.R.1    Lachmann, H.J.2    Gillmore, J.D.3    Booth, S.E.4    Hawkins, P.N.5
  • 13
    • 0035146714 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Lebanon: Mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations
    • Mansour I, Delague V, Cazeneuve C et al: Familial Mediterranean fever in Lebanon: Mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M6941 mutations. Eur J Hum Genet 2001; 9: 51-55.
    • (2001) Eur J Hum Genet , vol.9 , pp. 51-55
    • Mansour, I.1    Delague, V.2    Cazeneuve, C.3
  • 14
    • 0034879079 scopus 로고    scopus 로고
    • Mutation frequency of familial Mediterrarean fever and evidence for a high carrier rate in the Turkish population
    • Yilmaz E, Ozen S, Balci B et al: Mutation frequency of familial Mediterrarean 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
  • 15
    • 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 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: E399.
    • (2004) Hum Mutat , vol.23
    • Aldea, A.1    Calafell, F.2    Arostegui, J.I.3
  • 16
    • 0242468414 scopus 로고    scopus 로고
    • Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population
    • Al-Alami JR, Tayeh MK, Najib DA et. al: Familial Mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population. Saudi Med J 2003; 24: 1055-1059.
    • (2003) Saudi Med J , vol.24 , pp. 1055-1059
    • Al-Alami, J.R.1    Tayeh, M.K.2    Najib, D.A.3    et., al.4
  • 18
    • 21344459060 scopus 로고    scopus 로고
    • Genetic screening of familial Mediterranean fever mutations in the Palestinian population
    • Ayesh SK, Nassar SM, Al-Sharef WA, Abu-Libdeh BY, Darwish HM: Genetic screening of familial Mediterranean fever mutations in the Palestinian population. Saudi Med J 2005; 26: 732-737.
    • (2005) Saudi Med J , vol.26 , pp. 732-737
    • Ayesh, S.K.1    Nassar, S.M.2    Al-Sharef, W.A.3    Abu-Libdeh, B.Y.4    Darwish, H.M.5
  • 20
    • 12344314454 scopus 로고    scopus 로고
    • Familial Mediterranean Fever (FMF) in Turkey: Results of a Nationwide Multicenter Study
    • Turkish FMF Study Group
    • Turkish FMF Study Group: Familial Mediterranean Fever (FMF) in Turkey: Results of a Nationwide Multicenter Study. Medicine (Baltimore) 2005; 84: 1-11.
    • (2005) Medicine (Baltimore) , vol.84 , pp. 1-11
  • 21
    • 31344435102 scopus 로고    scopus 로고
    • Prevalence and distribution, of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever
    • Belmahi L, Sefiani A, Fouveau C et al: Prevalence and distribution, of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever. C R Biol 2006; 329 71-74.
    • (2006) C R Biol , vol.329 , pp. 71-74
    • Belmahi, L.1    Sefiani, A.2    Fouveau, C.3
  • 22
    • 33845922909 scopus 로고    scopus 로고
    • Familial Mediterranean fever in the Syrian population: Gene mutation frequencies, carrier rates and phenotype-genotype correlation
    • Mattit H, Joma M, Al-Cheikh S et al: Familial Mediterranean fever in the Syrian population: Gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Med Genet 2006; 49: 481-486.
    • (2006) Eur J Med Genet , vol.49 , pp. 481-486
    • Mattit, H.1    Joma, M.2    Al-Cheikh, S.3
  • 23
    • 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
  • 24
    • 0030657542 scopus 로고    scopus 로고
    • The familial Mediterranean-fever gene - cloned at last
    • Babior BM, Matzner Y: The familial Mediterranean-fever gene - cloned at last. N Eng J Med 1997; 337: 1548-1549.
    • (1997) N Eng J Med , vol.337 , pp. 1548-1549
    • Babior, B.M.1    Matzner, Y.2
  • 25
    • 0034658465 scopus 로고    scopus 로고
    • The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in responsee to infammatory mediators
    • Centola M, Wood G, Frucht DM et al: The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in responsee to infammatory mediators. Blood 2000; 95: 3223-3231.
    • (2000) Blood , vol.95 , pp. 3223-3231
    • Centola, M.1    Wood, G.2    Frucht, D.M.3
  • 26
    • 0034123581 scopus 로고    scopus 로고
    • Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli-Arab population
    • Shinawi M, Brik R, Berant M, Kasinetz L, Gershoni-Baruch R: Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli-Arab population. J Rheumatol 2000; 27: 1492-1495.
    • (2000) J Rheumatol , vol.27 , pp. 1492-1495
    • Shinawi, M.1    Brik, R.2    Berant, M.3    Kasinetz, L.4    Gershoni-Baruch, R.5
  • 28
    • 13144307083 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)
    • Dewalle M, Domingo C, Rozembaum 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    Rozembaum, M.3
  • 29
    • 0033754004 scopus 로고    scopus 로고
    • Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever
    • Cazeneuve C, Ajrapetyan H, Papin S et al: Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000; 67: 1136-1143.
    • (2000) Am J Hum Genet , vol.67 , pp. 1136-1143
    • Cazeneuve, C.1    Ajrapetyan, H.2    Papin, S.3
  • 30
    • 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: E385-e386.
    • (2000) Hum Mutat , vol.15
    • Ben-Chetrit, E.1    Lerer, I.2    Malamud, E.3    Domingo, C.4    Abeliovich, D.5
  • 31
    • 0034031649 scopus 로고    scopus 로고
    • The genetic basis of autosomal dominant familial Mediterranean fever
    • Booth DR, Gilmore JD, Lachmann HJ et al: The genetic basis of autosomal dominant familial Mediterranean fever. Q J Med 2000; 93: 217-221.
    • (2000) Q J Med , vol.93 , pp. 217-221
    • Booth, D.R.1    Gilmore, J.D.2    Lachmann, H.J.3
  • 32
    • 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
  • 33
    • 0036325978 scopus 로고    scopus 로고
    • 1591 T MEFV mutation in a Spanish kindred: Is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
    • Aldea A, Casademont J, Aróstegui JI et al: 1591 T MEFV mutation in a Spanish kindred: Is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier? Hum Mutat 2002; 20: e148-e150.
    • (2002) Hum Mutat , vol.20
    • Aldea, A.1    Casademont, J.2    Aróstegui, J.I.3
  • 34
    • 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, Niel 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    Niel, F.5    Amselem, S.6
  • 35
    • 17644365482 scopus 로고    scopus 로고
    • E148Q is a disease-causing MEFV mutation: A phenotypic evaluation in patients with familial Mediterranean fever
    • Topaloglu R, Ozaltin F, Yilmaz E et al: E148Q is a disease-causing MEFV mutation: A phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis 2005; 64: 750-752.
    • (2005) Ann Rheum Dis , vol.64 , pp. 750-752
    • Topaloglu, R.1    Ozaltin, F.2    Yilmaz, E.3
  • 36
    • 0031983713 scopus 로고    scopus 로고
    • Clinical differences between North African and Iraqi Jews with familial Mediterranean fever
    • Pras E, Livneh A, Balow Jr JE et al: Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998; 75: 216-219.
    • (1998) Am J Med Genet , vol.75 , pp. 216-219
    • Pras, E.1    Livneh, A.2    Balow Jr, J.E.3
  • 38
    • 0031897168 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) clinical and genetic features in Druzes and Iraqi-Jews: A preliminary study
    • Touitou I, Ben-Chetrit E, Notarnicola C et al: Familial Mediterranean fever (FMF) clinical and genetic features in Druzes and Iraqi-Jews: A preliminary study. J Rheumatol 1998; 25: 916-919.
    • (1998) J Rheumatol , vol.25 , pp. 916-919
    • Touitou, I.1    Ben-Chetrit, E.2    Notarnicola, C.3
  • 39
    • 6744260791 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis
    • Yalçýnkaya F, Cakar N, Misirlioglu M et al: Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: Evidence for mutation-independent amyloidosis. Rheumatology 2000; 39: 67-72.
    • (2000) Rheumatology , vol.39 , pp. 67-72
    • Yalçýnkaya, F.1    Cakar, N.2    Misirlioglu, M.3
  • 40
    • 0035076326 scopus 로고    scopus 로고
    • A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD)
    • Livneh A, Aksentijevich I, Langevitz P et al: A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's 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
  • 41
    • 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
  • 42
    • 0035147039 scopus 로고    scopus 로고
    • The MICA region determines the first modifier locus in familial Mediterranean fever
    • Touitou I, Picot M-C, Domingo C et al: The MICA region determines the first modifier locus in familial Mediterranean fever. Arthritis Rheum 2001; 44: 163-169.
    • (2001) Arthritis Rheum , vol.44 , pp. 163-169
    • Touitou, I.1    Picot, M.-C.2    Domingo, C.3
  • 43
    • 0042072901 scopus 로고    scopus 로고
    • Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations
    • Cazeneuve C, Hovannesyan Z, Genevieve D et al: Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum 2003; 48: 2324-2331.
    • (2003) Arthritis Rheum , vol.48 , pp. 2324-2331
    • Cazeneuve, C.1    Hovannesyan, Z.2    Genevieve, D.3
  • 44
    • 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 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
  • 45
    • 0033630556 scopus 로고    scopus 로고
    • MEFV mutations in Turkish patients suffering from familial Mediterranean fever
    • Akar N, Misiroglu M, Yalçýnkaya F et al MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 190; 15: E118-e119.
    • Hum Mutat , vol.190 , Issue.15
    • Akar, N.1    Misiroglu, M.2    Yalçýnkaya, F.3
  • 46
    • 0343674694 scopus 로고    scopus 로고
    • Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
    • Dode C, Pecheux C, Cazeneuve C et al: Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Hum Genet 2000; 92: 241-246.
    • (2000) Am J Hum Genet , vol.92 , pp. 241-246
    • Dode, C.1    Pecheux, C.2    Cazeneuve, C.3
  • 47
    • 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 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
  • 48
    • 34548163647 scopus 로고    scopus 로고
    • Hawkins PN, Gillmore JD, Booth SE et al: Pyrin E148Q is prevalent globally and may upregulate the inflammatory response non-specifically. Abstracts of the familial Mediterranean fever II international conference, 3-7 May, 2000, Antalya, Turkey. Clin Exp Rheumatol 2000; 18: A-4.
    • Hawkins PN, Gillmore JD, Booth SE et al: Pyrin E148Q is prevalent globally and may upregulate the inflammatory response non-specifically. Abstracts of the familial Mediterranean fever II international conference, 3-7 May, 2000, Antalya, Turkey. Clin Exp Rheumatol 2000; 18: A-4.
  • 49
    • 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: 1317-1325..
    • (1998) Hum Mol Genet , vol.7 , pp. 1317-1325
    • Bernot, A.1    da Silva, C.2    Petit, J.-L.3
  • 50
    • 0037262046 scopus 로고    scopus 로고
    • Familial Mediterranean fever is no longer a rare disease in Italy
    • La Regina M, Nucera G, Diaco M et al: Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 2003; 11 50-56.
    • (2003) Eur J Hum Genet , vol.11 , pp. 50-56
    • La Regina, M.1    Nucera, G.2    Diaco, M.3
  • 51
    • 1342324955 scopus 로고    scopus 로고
    • Familial Mediterranean fever seems to be not uncommon in Greece
    • Konstantopoulos K, Kanta A: Familial Mediterranean fever seems to be not uncommon in Greece. Eur J Hum Genet 2004; 12: 85-86.
    • (2004) Eur J Hum Genet , vol.12 , pp. 85-86
    • Konstantopoulos, K.1    Kanta, A.2
  • 52
    • 0036016985 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) is a frequent disease in the Greek-Cypriot population of Cyprus
    • Constantinou Deltas C, Mean R, Rossou E et al: Familial Mediterranean fever (FMF) is a frequent disease in the Greek-Cypriot population of Cyprus. Genet Test 2002; 6: 15-21.
    • (2002) Genet Test , vol.6 , pp. 15-21
    • Constantinou Deltas, C.1    Mean, R.2    Rossou, E.3
  • 53
    • 4244147084 scopus 로고    scopus 로고
    • Linkage study of Turkish familial Mediterranean fever (IMF) to 16p13.3 and evidence for genetic heterogeneity
    • Ozen S, Akarsu AN, Saatci U, Bakkaloglu A, Sarfarazi M: Linkage study of Turkish familial Mediterranean fever (IMF) to 16p13.3 and evidence for genetic heterogeneity. Am J Hum Genet 1996; 59 (Suppl.): A231.
    • (1996) Am J Hum Genet , vol.59 , Issue.SUPPL.
    • Ozen, S.1    Akarsu, A.N.2    Saatci, U.3    Bakkaloglu, A.4    Sarfarazi, M.5
  • 54
    • 19144370332 scopus 로고    scopus 로고
    • Linkage disequilibrium. mapping places the gene causing familial Mediterranean fever close to D16S246
    • Levy EN, Shen Y, Kupelian A et al: Linkage disequilibrium. mapping places the gene causing familial Mediterranean fever close to D16S246. Am J Hum Genet 1996; 58: 523-534.
    • (1996) Am J Hum Genet , vol.58 , pp. 523-534
    • Levy, E.N.1    Shen, Y.2    Kupelian, A.3
  • 55
    • 0031572315 scopus 로고    scopus 로고
    • A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups
    • Balow Jr JE, Shelton DA, Orsborn A et al: A high-resolution genetic map of the familial Mediterranean fever candidate region allows identification of haplotype-sharing among ethnic groups. Genomics 1997; 44: 280-291.
    • (1997) Genomics , vol.44 , pp. 280-291
    • Balow Jr, J.E.1    Shelton, D.A.2    Orsborn, A.3
  • 56
    • 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
  • 57
    • 0027448693 scopus 로고
    • Familial Mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis
    • Aksentijevich I, Pras E, Gruberg L et al: Familial Mediterranean fever (FMF) in Moroccan Jews: Demonstration of a founder effect by extended haplotype analysis.Am J Hum Genet 1993; 53: 644-651.
    • (1993) Am J Hum Genet , vol.53 , pp. 644-651
    • Aksentijevich, I.1    Pras, E.2    Gruberg, L.3
  • 58
    • 0031693188 scopus 로고    scopus 로고
    • The hereditary periodic fever syndromes: Molecular analysis of a new family of inflammatory diseases
    • Centola M, Aksentilevich I, Kastner DL: The hereditary periodic fever syndromes: Molecular analysis of a new family of inflammatory diseases. Hum Mol Genet 1998; 7: 1581-1588.
    • (1998) Hum Mol Genet , vol.7 , pp. 1581-1588
    • Centola, M.1    Aksentilevich, I.2    Kastner, D.L.3
  • 59
    • 0034164558 scopus 로고    scopus 로고
    • Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients
    • Medlej-Hashim M, Rawashdeh M, Chouery E et al: Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients. Hum Mutat 2000; 15: E384.
    • (2000) Hum Mutat , vol.15
    • Medlej-Hashim, M.1    Rawashdeh, M.2    Chouery, E.3
  • 61
    • 0034186466 scopus 로고    scopus 로고
    • Familial Mediterranean fever: Effects of genotype and ethnicity on inflammatory attacks and amyloidosis
    • Mimouni A, Magal N, Stoffman N 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
  • 62
    • 0024446455 scopus 로고
    • Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency
    • Rogers D, Shohat M, Peterson GM et al: Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency. Am J Hum Genet 1989; 34: 168-172.
    • (1989) Am J Hum Genet , vol.34 , pp. 168-172
    • Rogers, D.1    Shohat, M.2    Peterson, G.M.3
  • 65
    • 0026720320 scopus 로고
    • Consanguineous marriage in Jordan
    • Khoury SA, Massad D: Consanguineous marriage in Jordan. Am J Med Genet 1992; 43: 769-775.
    • (1992) Am J Med Genet , vol.43 , pp. 769-775
    • Khoury, S.A.1    Massad, D.2
  • 66
    • 0027363550 scopus 로고
    • Ponsanguinity in north Jordan: Prevalence and pattern
    • Al-Salem M, Rawashdeh N: Ponsanguinity in north Jordan: prevalence and pattern. J Biosoc Sci 1993; 25: 553-556.
    • (1993) J Biosoc Sci , vol.25 , pp. 553-556
    • Al-Salem, M.1    Rawashdeh, N.2
  • 67
    • 0029681944 scopus 로고    scopus 로고
    • Familial Mediterranean fever in Arab children: The high prevalence and gene frequency
    • Rawashdeh M, Majeed HA: Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Eur J Pediatr 1996; 515 540-544.
    • (1996) Eur J Pediatr , vol.515 , pp. 540-544
    • Rawashdeh, M.1    Majeed, H.A.2
  • 68
    • 0031615109 scopus 로고    scopus 로고
    • Recurrent episodic fever. A presenting feature of familial Mediterranean fever
    • Majeed HA, Rawashdeh M, Qubain H: Recurrent episodic fever. A presenting feature of familial Mediterranean fever. J Med Liban 1998; 46 12-15.
    • (1998) J Med Liban , vol.46 , pp. 12-15
    • Majeed, H.A.1    Rawashdeh, M.2    Qubain, H.3
  • 69
    • 0037349294 scopus 로고    scopus 로고
    • Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
    • Chae JJ, Komarow HD, Cheng J et al: Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 2003; 11: 591-604.
    • (2003) Mol Cell , vol.11 , pp. 591-604
    • Chae, J.J.1    Komarow, H.D.2    Cheng, J.3
  • 70
    • 0028090443 scopus 로고
    • Possible protection against asthma in heterozygotes for familial Mediterranean fever
    • Brenner-Ullman A, Melzer-Ofir H, Daniels M, Shohat M: Possible protection against asthma in heterozygotes for familial Mediterranean fever. Am J Med Genet 1994; 53: 172-175.
    • (1994) Am J Med Genet , vol.53 , pp. 172-175
    • Brenner-Ullman, A.1    Melzer-Ofir, H.2    Daniels, M.3    Shohat, M.4
  • 71
    • 0034082327 scopus 로고    scopus 로고
    • Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)
    • Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G: Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 2000; 8: 367-371.
    • (2000) Eur J Hum Genet , vol.8 , pp. 367-371
    • Schollen, E.1    Kjaergaard, S.2    Legius, E.3    Schwartz, M.4    Matthijs, G.5
  • 72
    • 33845943325 scopus 로고    scopus 로고
    • Goats, gerAs, and fever: Are the pyrin mutations responsible for familial Mediterranean fever protective against Brucellosis?
    • Ross JJ: Goats, gerAs, and fever: are the pyrin mutations responsible for familial Mediterranean fever protective against Brucellosis? Med Hypotheses 2006; 68: 499-501.
    • (2006) Med Hypotheses , vol.68 , pp. 499-501
    • Ross, J.J.1
  • 73
    • 0035686887 scopus 로고    scopus 로고
    • Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group
    • Weale ME, Yepiskoposyan L, Jager RF et al: Armenian Y chromosome haplotypes reveal strong regional structure within a single ethno-national group. Hum Genet 2001; 109: 659-674.
    • (2001) Hum Genet , vol.109 , pp. 659-674
    • Weale, M.E.1    Yepiskoposyan, L.2    Jager, R.F.3
  • 74
    • 0345858080 scopus 로고    scopus 로고
    • Variation in Short Tandem Repeats of human Y chromosome
    • Yepiskoposyan LM, Oganesyan NA, Khudoyan AT: Variation in Short Tandem Repeats of human Y chromosome. Genetika 2001; 37: 926-931.
    • (2001) Genetika , vol.37 , pp. 926-931
    • Yepiskoposyan, L.M.1    Oganesyan, N.A.2    Khudoyan, A.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.