-
1
-
-
0014118417
-
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
-
3
-
-
0025866886
-
Long-term colchicine treatment in children with familial Mediterranean fever
-
Zemer D, Livneh A, Danon YL, Pras M, Sohar E. Long-term colchicine treatment in children with familial Mediterranean fever. Arthritis Rheum 1991: 34: 973-977.
-
(1991)
Arthritis Rheum
, vol.34
, pp. 973-977
-
-
Zemer, D.1
Livneh, A.2
Danon, Y.L.3
Pras, M.4
Sohar, E.5
-
5
-
-
16944365196
-
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
-
-
-
6
-
-
0030745449
-
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
-
-
-
7
-
-
4143125654
-
Infevers: An evolving mutation database for auto-inflammatory syndromes
-
Touitou I, Lesage S, McDermott M et al. Infevers: An evolving mutation database for auto-inflammatory syndromes. Hum Mutat 2004: 24: 194-198.
-
(2004)
Hum Mutat
, vol.24
, pp. 194-198
-
-
Touitou, I.1
Lesage, S.2
McDermott, M.3
-
8
-
-
0034658465
-
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 DM 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
-
9
-
-
0034651904
-
Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin
-
Tidow N, Chen X, Muller C et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000: 95: 1451-1455.
-
(2000)
Blood
, vol.95
, pp. 1451-1455
-
-
Tidow, N.1
Chen, X.2
Muller, C.3
-
10
-
-
0035916324
-
The pyrin domain: A possible member of the death domain-fold family implicated in apoptosis and inflammation
-
Martinon F, Hofmann K, Tschopp J. The pyrin domain: A possible member of the death domain-fold family implicated in apoptosis and inflammation. Curr Biol 2001: 11: R118-R120.
-
(2001)
Curr Biol
, vol.11
-
-
Martinon, F.1
Hofmann, K.2
Tschopp, J.3
-
11
-
-
0036657283
-
Fire and ICE: The role of pyrin domain-containing proteins in inflammation and apoptosis
-
Gumucio DL, Diaz A, Schaner P et al. Fire and ICE: The role of pyrin domain-containing proteins in inflammation and apoptosis. Clin Exp Rheumatol 2002: 20: S45-S53.
-
(2002)
Clin Exp Rheumatol
, vol.20
-
-
Gumucio, D.L.1
Diaz, A.2
Schaner, P.3
-
12
-
-
0037436868
-
Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product
-
Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 2003: 302: 575-580.
-
(2003)
Biochem Biophys Res Commun
, vol.302
, pp. 575-580
-
-
Dowds, T.A.1
Masumoto, J.2
Chen, F.F.3
Ogura, Y.4
Inohara, N.5
Nunez, G.6
-
13
-
-
0037349294
-
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
-
14
-
-
0036016985
-
Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
-
Deltas CC, Mean R, Rossou E et al. 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
-
15
-
-
0037262046
-
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
-
16
-
-
2342558725
-
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hotspot" 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 "hotspot" at the MEFV locus. Hum Mutat 2004: 23: 399-406.
-
(2004)
Hum Mutat
, vol.23
, pp. 399-406
-
-
Aldea, A.1
Calafell, F.2
Arostegui, J.I.3
-
17
-
-
0036656524
-
Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: Speculations remain?
-
Ozen S, Balci B, Ozkara S et al. Is there a heterozygote advantage for familial Mediterranean fever carriers against tuberculosis infections: speculations remain? Clin Exp Rheumatol 2002: 20: S57-S58.
-
(2002)
Clin Exp Rheumatol
, vol.20
-
-
Ozen, S.1
Balci, B.2
Ozkara, S.3
-
18
-
-
0034879132
-
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
-
19
-
-
0032522593
-
Familial Mediterranean fever: The genetics of inflammation
-
Kastner DL. Familial Mediterranean fever: The genetics of inflammation. Hosp Pract (Off Ed) 1998: 33: 131-146.
-
(1998)
Hosp Pract (Off Ed)
, vol.33
, pp. 131-146
-
-
Kastner, D.L.1
-
20
-
-
0035091156
-
Episodic evolution of pyrin in primates: Human mutations recapitulate ancestral amino acid states
-
Schaner P, Richards N, Wadhwa A et al. Episodic evolution of pyrin in primates: Human mutations recapitulate ancestral amino acid states. Nat Genet 2001: 27: 318-321.
-
(2001)
Nat Genet
, vol.27
, pp. 318-321
-
-
Schaner, P.1
Richards, N.2
Wadhwa, A.3
-
21
-
-
0037405561
-
Familial Mediterranean fever associated pyrin mutations in Greece
-
Konstantopoulos K, Kanta A, Deltas C et al. Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis 2003: 62: 479-481.
-
(2003)
Ann Rheum Dis
, vol.62
, pp. 479-481
-
-
Konstantopoulos, K.1
Kanta, A.2
Deltas, C.3
-
22
-
-
11144354882
-
Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients
-
Ritis K, Giaglis S, Spathari N et al. Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients. Ann Rheum Dis 2004: 63: 438-443.
-
(2004)
Ann Rheum Dis
, vol.63
, pp. 438-443
-
-
Ritis, K.1
Giaglis, S.2
Spathari, N.3
-
23
-
-
0030783102
-
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
-
24
-
-
23444451748
-
Evaluation of disease severity in familial Mediterranean fever
-
Mor A, Shinar Y, Zaks N et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum 2005: 35: 57-64.
-
(2005)
Semin Arthritis Rheum
, vol.35
, pp. 57-64
-
-
Mor, A.1
Shinar, Y.2
Zaks, N.3
-
25
-
-
0029657862
-
NIRCA: A rapid robust method for screening for unknown point mutations
-
Goldrick MM, Kimball GR, Liu Q, Martin LA, Sommer SS, Tseng JY. NIRCA: A rapid robust method for screening for unknown point mutations. Biotechniques 1996: 21: 106-112.
-
(1996)
Biotechniques
, vol.21
, pp. 106-112
-
-
Goldrick, M.M.1
Kimball, G.R.2
Liu, Q.3
Martin, L.A.4
Sommer, S.S.5
Tseng, J.Y.6
-
26
-
-
1542782087
-
The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65
-
Papin S, Cazeneuve C, Duquesnoy P, Jeru I, Sahali D, Amselem S. The tumor necrosis factor alpha-dependent activation of the human mediterranean fever (MEFV) promoter is mediated by a synergistic interaction between C/EBP beta and NF kappaB p65. J Biol Chem 2003: 278: 48839-48847.
-
(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
-
27
-
-
0003402305
-
-
Geneva, Switzerland: Genetics and Biometry Laboratory, University of Geneva
-
Schneider S, Roessli D, Excoffier L. Arlequin ver. 2.000: A software for population genetics data analysis. Geneva, Switzerland: Genetics and Biometry Laboratory, University of Geneva, 2000.
-
(2000)
Arlequin Ver. 2.000: A Software for Population Genetics Data Analysis
-
-
Schneider, S.1
Roessli, D.2
Excoffier, L.3
-
28
-
-
0000122573
-
PHYLIP -phylogeny inference package (Version 3.2)
-
Felsenstein J. PHYLIP -phylogeny inference package (version 3.2). Cladistics 1989: 5: 164-166.
-
(1989)
Cladistics
, vol.5
, pp. 164-166
-
-
Felsenstein, J.1
-
29
-
-
0347513220
-
DnaSP, DNA polymorphism analyses by the coalescent and other methods
-
Rozas J, Sanchez-Delbarrio JC, Messeguer X, Rozas R. DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 2003: 19: 2496-2497.
-
(2003)
Bioinformatics
, vol.19
, pp. 2496-2497
-
-
Rozas, J.1
Sanchez-Delbarrio, J.C.2
Messeguer, X.3
Rozas, R.4
-
30
-
-
33645883525
-
Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: Evidence for a potential disease-modifying effect?
-
Giaglis S, Mimidis K, Papadopoulos V et al. Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: Evidence for a potential disease-modifying effect? Dig Dis Sci 2006: 51: 687-692.
-
(2006)
Dig Dis Sci
, vol.51
, pp. 687-692
-
-
Giaglis, S.1
Mimidis, K.2
Papadopoulos, V.3
-
31
-
-
0036224497
-
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: 145-159.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 145-159
-
-
Gershoni-Baruch, R.1
Brik, R.2
Shinawi, M.3
Livneh, A.4
-
32
-
-
18244429610
-
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
-
33
-
-
0034879079
-
Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population
-
Yilmaz E, Osen S, Balci B 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
Osen, S.2
Balci, B.3
-
34
-
-
0036656949
-
Molecular diagnosis of FMF: Lessons from a study of 446 unrelated individuals
-
Ben-Chetrit E, Urieli-Shoval S, Calko S, Abeliovich D, Matzner Y. Molecular diagnosis of FMF: Lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 2002: 20: S25-S29.
-
(2002)
Clin Exp Rheumatol
, vol.20
-
-
Ben-Chetrit, E.1
Urieli-Shoval, S.2
Calko, S.3
Abeliovich, D.4
Matzner, Y.5
-
35
-
-
0041402652
-
Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever
-
Zaks N, Shinar Y, Padeh S et al. Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever. Med Assoc J 2003: 5: 585-588.
-
(2003)
Med Assoc J
, vol.5
, pp. 585-588
-
-
Zaks, N.1
Shinar, Y.2
Padeh, S.3
-
36
-
-
12344314454
-
Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study
-
Tunca M, Akar S, Onen F et al. 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
-
-
Tunca, M.1
Akar, S.2
Onen, F.3
-
38
-
-
19544380739
-
The spectrum of familial Mediterranean fever gene mutations in Arabs: Report of a large series
-
Majeed HA, El-Khateeb M, El-Shanti H, Rabaiha ZA, Tayeh M, Najib D. The spectrum of familial Mediterranean fever gene mutations in Arabs: Report of a large series. Semin Arthritis Rheum 2005: 34: 813-818.
-
(2005)
Semin Arthritis Rheum
, vol.34
, pp. 813-818
-
-
Majeed, H.A.1
El-Khateeb, M.2
El-Shanti, H.3
Rabaiha, Z.A.4
Tayeh, M.5
Najib, D.6
-
39
-
-
29544451020
-
Familial Mediterranean fever (FMF) in Lebanon and Jordan: A population genetics study and report of three novel mutations
-
Medlej-Hashim M, Serre JL, Corbani S et al. Familial Mediterranean fever (FMF) in Lebanon and Jordan: A population genetics study and report of three novel mutations. Eur J Med Genet 2005: 48: 412-420.
-
(2005)
Eur J Med Genet
, vol.48
, pp. 412-420
-
-
Medlej-Hashim, M.1
Serre, J.L.2
Corbani, S.3
|