-
1
-
-
16944365196
-
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
-
-
-
2
-
-
0030745449
-
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
-
-
-
3
-
-
0344609221
-
Acute phase response and evolution of familial Mediterranean fever
-
Tunca M, Kirkali G, Soyturk M, Akar S, Pepys MB, Hawkins PN. Acute phase response and evolution of familial Mediterranean fever [letter]. Lancet 1999;353:1415.
-
(1999)
Lancet
, vol.353
, pp. 1415
-
-
Tunca, M.1
Kirkali, G.2
Soyturk, M.3
Akar, S.4
Pepys, M.B.5
Hawkins, P.N.6
-
4
-
-
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, 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;95:3223-31.
-
(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
-
5
-
-
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, Müller C, Kawano S, Gombart AF, Fischel-Ghodsian N, et al. Hematopoietic-specific expression of MEFV, the gene mutated in familial Mediterranean fever, and subcellular localization of its corresponding protein, pyrin. Blood 2000;95:1451-5.
-
(2000)
Blood
, vol.95
, pp. 1451-1455
-
-
Tidow, N.1
Chen, X.2
Müller, C.3
Kawano, S.4
Gombart, A.F.5
Fischel-Ghodsian, N.6
-
6
-
-
0034018155
-
The familial Mediterranean fever protein interacts and colocalizes with a putative Golgi transporter
-
Chen X, Bykhovskaya Y, Tidow N, Hamon M, Bercovitz Z, Spirina O, et al. The familial Mediterranean fever protein interacts and colocalizes with a putative Golgi transporter. Proc Soc Exp Biol Med 2000;224:32-40.
-
(2000)
Proc Soc Exp Biol Med
, vol.224
, pp. 32-40
-
-
Chen, X.1
Bykhovskaya, Y.2
Tidow, N.3
Hamon, M.4
Bercovitz, Z.5
Spirina, O.6
-
7
-
-
0034642299
-
Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin to the nucleus
-
Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, et al. Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin to the nucleus. Hum Mol Genet 2000;9:3001-9.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3001-3009
-
-
Papin, S.1
Duquesnoy, P.2
Cazeneuve, C.3
Pantel, J.4
Coppey-Moisan, M.5
Dargemont, C.6
-
8
-
-
0035437141
-
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
-
Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001;98:851-9.
-
(2001)
Blood
, vol.98
, pp. 851-859
-
-
Mansfield, E.1
Chae, J.J.2
Komarow, H.D.3
Brotz, T.M.4
Frucht, D.M.5
Aksentijevich, I.6
-
9
-
-
7344255810
-
Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
-
Bernot A, Da Silva C, Petit JL, 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;7:1317-25.
-
(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
-
10
-
-
0031724284
-
Pyrin/marenostrin mutations in familial Mediterranean fever
-
Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN. Pyrin/marenostrin mutations in familial Mediterranean fever. QJM 1998;91:603-6.
-
(1998)
QJM
, vol.91
, pp. 603-606
-
-
Booth, D.R.1
Gillmore, J.D.2
Booth, S.E.3
Pepys, M.B.4
Hawkins, P.N.5
-
11
-
-
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, Centola M, Pras E, Chae JJ, 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;64:949-62.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 949-962
-
-
Aksentijevich, I.1
Torosyan, Y.2
Samuels, J.3
Centola, M.4
Pras, E.5
Chae, J.J.6
-
12
-
-
0343674694
-
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, Cattan D, Dervichian M, Goossens M, et al. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet 2000;92:241-6.
-
(2000)
Am J Med Genet
, vol.92
, pp. 241-246
-
-
Dode, C.1
Pecheux, C.2
Cazeneuve, C.3
Cattan, D.4
Dervichian, M.5
Goossens, M.6
-
13
-
-
13144307083
-
Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF)
-
Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998;6:95-7.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 95-97
-
-
Dewalle, M.1
Domingo, C.2
Rozenbaum, M.3
Ben-Chétrit, E.4
Cattan, D.5
Bernot, A.6
-
14
-
-
0033362158
-
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, Pêcheux C, Dervichian M, Nédelec 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
Pêcheux, C.3
Dervichian, M.4
Nédelec, B.5
Reinert, P.6
-
15
-
-
0033008274
-
MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever
-
Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, 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
-
16
-
-
0032929738
-
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
-
17
-
-
0033910042
-
Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever
-
Shinar Y, Livneh A, Langevitz P, Zaks N, Aksentijevich I, Koziol DE, et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000;27:1703-7.
-
(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
-
18
-
-
0034164577
-
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;15:385-6.
-
(2000)
Hum Mutat
, vol.15
, pp. 385-386
-
-
Ben-Chetrit, E.1
Lerer, I.2
Malamud, E.3
Domingo, C.4
Abeliovich, D.5
-
19
-
-
0033527626
-
Late-onset familial Mediterranean fever (FMF): A subset with distinct clinical, demographic, and molecular genetic characteristics
-
Tamir N, Langevitz P, Zemer D, Pras E, Shinar Y, Padeh S, et al. Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics. Am J Med Genet 1999;87:30-5.
-
(1999)
Am J Med Genet
, vol.87
, pp. 30-35
-
-
Tamir, N.1
Langevitz, P.2
Zemer, D.3
Pras, E.4
Shinar, Y.5
Padeh, S.6
-
20
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879-85.
-
(1997)
Arthritis Rheum
, vol.40
, pp. 1879-1885
-
-
Livneh, A.1
Langevitz, P.2
Zemer, D.3
Zaks, N.4
Kees, S.5
Lidar, T.6
-
21
-
-
0033724484
-
Phenotype/genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features
-
Koné-Paut I, Dubuc M, Sportouch J, Minodier P, Garnier JM, Touitou I. Phenotype/genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology (Oxford) 2000;39:1275-9.
-
(2000)
Rheumatology (Oxford)
, vol.39
, pp. 1275-1279
-
-
Koné-Paut, I.1
Dubuc, M.2
Sportouch, J.3
Minodier, P.4
Garnier, J.M.5
Touitou, I.6
-
22
-
-
0034879132
-
The spectrum of familial Mediterranean fever (FMF) mutations
-
Touitou I The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001;9:473-83.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 473-483
-
-
Touitou, I.1
-
23
-
-
0031983713
-
Clinical differences between North African and Iraqi Jews with familial Mediterranean fever
-
Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998;75:216-9.
-
(1998)
Am J Med Genet
, vol.75
, pp. 216-219
-
-
Pras, E.1
Livneh, A.2
Balow J.E., Jr.3
Pras, E.4
Kastner, D.L.5
Pras, M.6
-
24
-
-
0028234056
-
Typing of the granulocyte-specific NA antigens by restriction fragment length polymorphism analysis
-
Stein EL, Bux J, Santoso S, Mueller-Eckhardt C. Typing of the granulocyte-specific NA antigens by restriction fragment length polymorphism analysis. Br J Haematol 1994;87:428-30.
-
(1994)
Br J Haematol
, vol.87
, pp. 428-430
-
-
Stein, E.L.1
Bux, J.2
Santoso, S.3
Mueller-Eckhardt, C.4
-
25
-
-
0032032607
-
Lack of IL-10 and IL-13 production by human polymorphonuclear neutrophils
-
Reglier H, Arce-Vicioso M, Fay M, Gougerot-Pocidalo MA, Chollet-Martin S. Lack of IL-10 and IL-13 production by human polymorphonuclear neutrophils. Cytokine 1998;10:192-8.
-
(1998)
Cytokine
, vol.10
, pp. 192-198
-
-
Reglier, H.1
Arce-Vicioso, M.2
Fay, M.3
Gougerot-Pocidalo, M.A.4
Chollet-Martin, S.5
-
26
-
-
0034093862
-
Semiquantitative reverse transcription-polymerase chain reaction to evaluate the expression patterns of genes involved in the oestrogen pathway
-
Rey JM, Pujol P, Callier P, Cavailles V, Freiss G, Maudelonde T, et al. Semiquantitative reverse transcription-polymerase chain reaction to evaluate the expression patterns of genes involved in the oestrogen pathway. J Mol Endocrinol 2000;24:433-40.
-
(2000)
J Mol Endocrinol
, vol.24
, pp. 433-440
-
-
Rey, J.M.1
Pujol, P.2
Callier, P.3
Cavailles, V.4
Freiss, G.5
Maudelonde, T.6
-
27
-
-
0034031649
-
The genetic basis of autosomal dominant familial Mediterranean fever
-
Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soyturk M, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000;93:217-21.
-
(2000)
QJM
, vol.93
, pp. 217-221
-
-
Booth, D.R.1
Gillmore, J.D.2
Lachmann, H.J.3
Booth, S.E.4
Bybee, A.5
Soyturk, M.6
-
28
-
-
0001043116
-
Serial monitoring of the acute phase response in healthy individuals with wild-type pyrin, heterozygous carriers of the FMF trait and patients with FMF
-
Lachmann HJ, Booth DR, Booth SE, Bybee A, Gallimore JR, Soyturk M, et al. Serial monitoring of the acute phase response in healthy individuals with wild-type pyrin, heterozygous carriers of the FMF trait and patients with FMF [abstract]. Clin Exp Rheumatol 2000;18:B-4.
-
(2000)
Clin Exp Rheumatol
, vol.18
-
-
Lachmann, H.J.1
Booth, D.R.2
Booth, S.E.3
Bybee, A.4
Gallimore, J.R.5
Soyturk, M.6
|