-
2
-
-
0033039501
-
Mutations in the gene encoding mevalonate kinase cause hyper-igD and periodic fever syndrome
-
International Hyper-IgD Study Group
-
Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 1999; 22:178-81.
-
(1999)
Nat Genet
, vol.22
, pp. 178-181
-
-
Drenth, J.P.1
Cuisset, L.2
Grateau, G.3
Vasseur, C.4
Van De Velde-Visser, S.D.5
De Jong, J.G.6
Beckmann, J.S.7
Van Der Meer, J.W.8
Delpech, M.9
-
3
-
-
0032574208
-
Familial Mediterranean fever
-
Ben Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998; 351:659-64.
-
(1998)
Lancet
, vol.351
, pp. 659-664
-
-
Ben Chetrit, E.1
Levy, M.2
-
4
-
-
0028026953
-
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients
-
International Hyper-IgD Study Group.
-
Drenth JP, Haagsma CJ, van der Meer JMW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 1994; 73:133-44.
-
(1994)
Medicine (Baltimore)
, vol.73
, pp. 133-144
-
-
Drenth, J.P.1
Haagsma, C.J.2
Van Der Meer, J.M.W.3
-
5
-
-
0030826517
-
Clinical spectrum of familial Hibernian fever: A 14-year follow-up study of the index case and extended family
-
McDermott EM, Smillie DM, Powell RJ. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family. Mayo Clin Proc 1997; 72:806-17.
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 806-817
-
-
McDermott, E.M.1
Smillie, D.M.2
Powell, R.J.3
-
6
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood C, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Kastner DL. Germline mutations in the extracellular domains of the 55kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97:133-44.
-
(1999)
Cell
, vol.97
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
McDermott, E.M.4
Ogunkolade, B.W.5
Centola, M.6
Mansfield, E.7
Gadina, M.8
Karenko, L.9
Pettersson, T.10
McCarthy, J.11
Frucht, D.M.12
Aringer, M.13
Torosyan, Y.14
Teppo, A.M.15
Wilson, M.16
Karaarslan, H.M.17
Wan, Y.18
Todd, I.19
Wood, C.20
Schlimgen, R.21
Kumarajeewa, T.R.22
Cooper, S.M.23
Vella, J.P.24
Kastner, D.L.25
more..
-
7
-
-
0024446455
-
Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency
-
Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, Rotter JI. Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 1989; 34:168-72.
-
(1989)
Am J Med Genet
, vol.34
, pp. 168-172
-
-
Rogers, D.B.1
Shohat, M.2
Petersen, G.M.3
Bickal, J.4
Congleton, J.5
Schwabe, A.D.6
Rotter, J.I.7
-
8
-
-
0028821355
-
Familial Mediterranean fever: High gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel
-
Daniels M, Shohat T, Brenner-Ullman A, Shohat M. Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am J Med Genet 1995; 55:311-14.
-
(1995)
Am J Med Genet
, vol.55
, pp. 311-314
-
-
Daniels, M.1
Shohat, T.2
Brenner-Ullman, A.3
Shohat, M.4
-
9
-
-
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. Q J Med 1998; 91:603-6.
-
(1998)
Q J Med
, 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
-
10
-
-
0033616472
-
Non-Mediterranean periodic fever
-
Deckers S, Delgrange E, Hoebeke M, Dahan K, Donckier J. Non-Mediterranean periodic fever. Lancet 1999; 353:382.
-
(1999)
Lancet
, vol.353
, pp. 382
-
-
Deckers, S.1
Delgrange, E.2
Hoebeke, M.3
Dahan, K.4
Donckier, J.5
-
11
-
-
0031814513
-
Familial Mediterranean fever at the millennium. Clinical spectrum; ancient mutations, and a survey of 100 American referrals to the National Institutes of Health
-
Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL. Familial Mediterranean fever at the millennium. Clinical spectrum; ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine 1998; 77:268-97.
-
(1998)
Medicine
, vol.77
, pp. 268-297
-
-
Samuels, J.1
Aksentijevich, I.2
Torosyan, Y.3
Centola, M.4
Deng, Z.5
Sood, R.6
Kastner, D.L.7
-
12
-
-
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; 43:227-53.
-
(1967)
Am J Med
, vol.43
, pp. 227-253
-
-
Sohar, E.1
Gafni, J.2
Pras, M.3
Heller, H.4
-
13
-
-
0022570984
-
Colchicine in the prevention and treatment of the amyloidosis of familial. Mediterranean fever
-
Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial. Mediterranean fever. N Engl J Med 1986; 314:1001-5.
-
(1986)
N Engl J Med
, vol.314
, pp. 1001-1005
-
-
Zemer, D.1
Pras, M.2
Sohar, E.3
Modan, M.4
Cabili, S.5
Gafni, J.6
-
14
-
-
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
-
-
-
15
-
-
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
-
-
-
16
-
-
7344255810
-
Non-founder mutations in the marenostrin/pyrin gene demonstrate its implication in familial Mediterranean fever
-
Bernot A, Da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, Ahmed-Arab M, Dross C, Dupont M, Cattan D, Smaoui N, Dod - C, P - cheux C, N - delec B, Medaxian J, Rozenbaum M, Rosner I, Delpech M, Grateau G, Demaille J, Weissenbach J, Touitou I: Non-founder mutations in the marenostrin/pyrin gene demonstrate its implication in familial Mediterranean fever. 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
Ahmed-Arab, M.7
Dross, C.8
Dupont, M.9
Cattan, D.10
Smaoui, N.11
Dod, C.12
Pcheux, C.13
Ndelec, B.14
Medaxian, J.15
Rozenbaum, M.16
Rosner, I.17
Delpech, M.18
Grateau, G.19
Demaille, J.20
Weissenbach, J.21
Touitou, I.22
more..
-
17
-
-
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
-
Asentijevich I, Y, Samuels J, Centola M, Pras E, Chae JJ, Oddoux C, Wood G, Azzaro MP, Palumbo G, Giustolisi R, Pras M, Ostrer H, Kastner DL. 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
-
-
Asentijevich, I.1
Samuels, J.2
Centola, M.3
Pras, E.4
Chae, J.J.5
Oddoux, C.6
Wood, G.7
Azzaro, M.P.8
Palumbo, G.9
Giustolisi, R.10
Pras, M.11
Ostrer, H.12
Kastner, D.L.13
-
18
-
-
0033362158
-
MEFV gene analysis in Armenian patients with familial Mediterranean fever: Diagnostic value, unfavorable renal prognosis of the M694V homozygous genotype, genetic and therapeutic implications
-
Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dode C, Grateau G, Amselem S. MEFV gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value, unfavorable renal prognosis of the M694V homozygous genotype, genetic and therapeutic implications. Am J Hum Genet 1999; Am J Hum Genet 1999, 65:88-97.
-
(1999)
Am J Hum Genet
-
-
Cazeneuve, C.1
Sarkisian, T.2
Pecheux, C.3
Dervichian, M.4
Nedelec, B.5
Reinert, P.6
Ayvazyan, A.7
Kouyoumdjian, J.C.8
Ajrapetyan, H.9
Delpech, M.10
Goossens, M.11
Dode, C.12
Grateau, G.13
Amselem, S.14
-
19
-
-
85184967161
-
-
Cazeneuve C, Sarkisian T, Pecheux C, Dervichian M, Nedelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dode C, Grateau G, Amselem S. MEFV gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value, unfavorable renal prognosis of the M694V homozygous genotype, genetic and therapeutic implications. Am J Hum Genet 1999; Am J Hum Genet 1999, 65:88-97.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 88-97
-
-
-
20
-
-
0031893195
-
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; 27:92-7.
-
(1998)
Scand J Rheumatol
, vol.27
, pp. 92-97
-
-
Pras, M.1
-
21
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M. 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
Migdal, A.7
Padeh, S.8
Pras, M.9
-
22
-
-
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, Pras E: 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
Pras, E.7
-
23
-
-
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, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern GJ, Schwabe A, Kastner D, Rotter JI, Fischel-Ghodsian N. 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
Danon, Y.7
Lotan, R.8
Ogur, G.9
Sirin, A.10
Schlezinger, M.11
Halpern, G.J.12
Schwabe, A.13
Kastner, D.14
Rotter, J.I.15
Fischel-Ghodsian, N.16
-
24
-
-
0030875991
-
Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population
-
Akarsu J, Saatci U, Ozen S, Bakkaloglu A, Besbas N, Sarfarazi M. Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population. J Med Genet 1997; 34:573-8.
-
(1997)
J Med Genet
, vol.34
, pp. 573-578
-
-
Akarsu, J.1
Saatci, U.2
Ozen, S.3
Bakkaloglu, A.4
Besbas, N.5
Sarfarazi, M.6
-
25
-
-
0027269692
-
Recurrent or episodic fever of unknown origin. Review of 45 cases and survey of the literature
-
Knockaert DC, Vanneste LJ, Bobbaers HJ. Recurrent or episodic fever of unknown origin. Review of 45 cases and survey of the literature. Medicine (Baltimore) 1993; 72:184-96.
-
(1993)
Medicine (Baltimore)
, vol.72
, pp. 184-196
-
-
Knockaert, D.C.1
Vanneste, L.J.2
Bobbaers, H.J.3
|