-
1
-
-
33750838535
-
Recent advances in the molecular pathogenesis of hereditary recurrent fevers
-
DOI 10.1097/ACI.0b013e3280109b57, PII 0013083220061200000006
-
Masters SL, Lobito AA, Chae JJ, Kastner DL. Recent advances in the molecular pathogenesis of hereditary recunent fevers. Curr Opin Allergy Clin Immunol 2006; 6:428-33. (Pubitemid 44714155)
-
(2006)
Current Opinion in Allergy and Clinical Immunology
, vol.6
, Issue.6
, pp. 428-433
-
-
Masters, S.L.1
Lobito, A.A.2
Chae, J.3
Kastner, D.L.4
-
2
-
-
76749139472
-
The protean visage of systemic autoinflammatory syndromes: A challenge for inter-professional collaboration
-
Rigante D. The protean visage of systemic autoinflammatory syndromes: a challenge for inter-professional collaboration. Eur Rev Med Pharmacol Sci 2010; 14:1-18.
-
(2010)
Eur Rev Med Pharmacol Sci
, vol.14
, pp. 1-18
-
-
Rigante, D.1
-
3
-
-
67650736238
-
Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease
-
Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 2009; 27:621-68
-
(2009)
Annu Rev Immunol
, vol.27
, pp. 621-668
-
-
Masters, S.L.1
Simon, A.2
Aksentijevich, I.3
Kastner, D.L.4
-
5
-
-
14744296180
-
Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: Analysis of 401 cases
-
DOI 10.1111/j.1742-1241.2004.00294.x
-
Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A, Ocal L, Aral O, Konice M. Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract 2005; 59:202-5. (Pubitemid 40331221)
-
(2005)
International Journal of Clinical Practice
, vol.59
, Issue.2
, pp. 202-205
-
-
Sayarlioglu, M.1
Cefle, A.2
Inanc, M.3
Kamali, S.4
Dalkilic, E.5
Gul, A.6
Ocal, L.7
Aral, O.8
Konice, M.9
-
6
-
-
78049387465
-
Familial Mediterranean fever diagnosed in an elderly patient
-
Cantarini L, Capecchi PL, Lucherini OM, Laghi Pasini F, Galeazzi M. Familial Mediterranean fever diagnosed in an elderly patient. Clin Exp Rheumatol 2010; 28(S):S91.
-
(2010)
Clin Exp Rheumatol
, vol.28
, Issue.S
-
-
Cantarini, L.1
Capecchi, P.L.2
Lucherini, O.M.3
Laghi Pasini, F.4
Galeazzi, M.5
-
7
-
-
33747780470
-
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
-
DOI 10.1136/ard.2005.048611
-
Ravet N, Rouaghe S, Dodé C, Bienvenu J, Stirnemann J, Lévy P, Delpech M, Grateau G. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 2006; 65:1158-62. (Pubitemid 44277389)
-
(2006)
Annals of the Rheumatic Diseases
, vol.65
, Issue.9
, pp. 1158-1162
-
-
Ravet, N.1
Rouaghe, S.2
Dode, C.3
Bienvenu, J.4
Stirnemann, J.5
Levy, P.6
Delpech, M.7
Grateau, G.8
-
8
-
-
0036675112
-
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
-
French Hereditary Recurrent Inflammatory Disorder Study Group
-
Dodé C, André M, Bienvenu T, et al. French Hereditary Recurrent Inflammatory Disorder Study Group. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002; 46:2181-8.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2181-2188
-
-
Dodé, C.1
André, M.2
Bienvenu, T.3
-
9
-
-
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
-
-
-
10
-
-
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
-
-
-
11
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 1999; 97:133-44. (Pubitemid 29165896)
-
(1999)
Cell
, vol.97
, Issue.1
, pp. 133-144
-
-
McDermott, M.F.1
Aksentijevich, I.2
Galon, J.3
McDermott, E.M.4
William, O.B.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
Mehmet, K.H.17
Wan, Y.18
Todd, L.19
Wood, G.20
Schlimgen, R.21
Kumarajeewa, T.R.22
Cooper, S.M.23
Vella, J.P.24
Amos, C.I.25
Mulley, J.26
Quane, K.A.27
Molloy, M.G.28
Ranki, A.29
Powell, R.J.30
Hitman, G.A.31
O'Shea, J.J.32
Kastner, D.L.33
more..
-
12
-
-
79953000253
-
Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders
-
Cantarini L, Lucherini OM, Iacoponi F, et al. Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders. Int J Immunopathol Pharmacol 2010; 23:1133-41.
-
(2010)
Int J Immunopathol Pharmacol
, vol.23
, pp. 1133-1141
-
-
Cantarini, L.1
Lucherini, O.M.2
Iacoponi, F.3
-
13
-
-
0033919244
-
A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family
-
DOI 10.1002/1529-0131(200007)43:7<1535::AID-ANR18>3.0.CO;2-C
-
Dodé C, Papo T, Fieschi C, et al. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family. Arthritis Rheum 2000; 43:1535-42. (Pubitemid 30452473)
-
(2000)
Arthritis and Rheumatism
, vol.43
, Issue.7
, pp. 1535-1542
-
-
Dode, C.1
Papo, T.2
Fieschi, C.3
Pecheux, C.4
Dion, E.5
Picard, F.6
Godeau, P.7
Bienvenu, J.8
Piette, J.-C.9
Delpech, M.10
Grateau, G.11
-
14
-
-
78650552920
-
Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment
-
Cantarini L, Lucherini OM, Cimaz R, Galeazzi M. Recurrent pericarditis caused by a rare mutation in the TNFRSF1A gene and with excellent response to anakinra treatment. Clin Exp Rheumatol 2010; 28:802.
-
(2010)
Clin Exp Rheumatol
, vol.28
, pp. 802
-
-
Cantarini, L.1
Lucherini, O.M.2
Cimaz, R.3
Galeazzi, M.4
-
15
-
-
77956989287
-
Familial clustering of recurrent pericarditis
-
may disclose tumour necrosis factor receptor-associated periodic syndrome.
-
Cantarini L, Lucherini OM, Baldari CT, Laghi Pasini F, Galeazzi M. Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome. Clin Exp Rheumatol 2010; 28:405-7.
-
(2010)
Clin Exp Rheumatol
, vol.28
, pp. 405-407
-
-
Cantarini, L.1
Lucherini, O.M.2
Baldari, C.T.3
Laghi Pasini, F.4
Galeazzi, M.5
-
16
-
-
76349123818
-
Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome
-
Cantarini L, Lucherini OM, Cimaz R, et al. Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome. Int J Immunopathol Pharmacol 2009; 22:1051-8.
-
(2009)
Int J Immunopathol Pharmacol
, vol.22
, pp. 1051-1058
-
-
Cantarini, L.1
Lucherini, O.M.2
Cimaz, R.3
-
17
-
-
4143125654
-
Infevers: An evolving mutation database for auto-inflammatory syndromes
-
DOI 10.1002/humu.20080
-
Touitou I, Lesage S, McDermott M, et al. Infevers: An evolving mutation database for auto-inflammatory syndromes. Human Mutation 2004; 24:194-8. (Pubitemid 39095595)
-
(2004)
Human Mutation
, vol.24
, Issue.3
, pp. 194-198
-
-
Touitou, I.1
Lesage, S.2
McDermott, M.3
Cuisset, L.4
Hoffman, H.5
Dode, C.6
Shoham, N.7
Aganna, E.8
Hugot, J.-P.9
Wise, C.10
Waterham, H.11
Pugnere, D.12
Demaille, J.13
De Menthiere, C.S.14
-
18
-
-
68849116499
-
A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever
-
Steichen O, van der Hilst J, Simon A, Cuisset L, Grateau G. A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol 2009; 36:1677-81.
-
(2009)
J Rheumatol
, vol.36
, pp. 1677-1681
-
-
Steichen, O.1
Van Der Hilst, J.2
Simon, A.3
Cuisset, L.4
Grateau, G.5
-
19
-
-
12144288979
-
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
-
DOI 10.1182/blood-2003-07-2531
-
Neven B, Callebaut I, Prieur AM, et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 2004; 103:2809-15. (Pubitemid 38393043)
-
(2004)
Blood
, vol.103
, Issue.7
, pp. 2809-2815
-
-
Neven, B.1
Callebaut, I.2
Prieur, A.-M.3
Feldmann, J.4
Bodemer, C.5
Lepore, L.6
Derfalvi, B.7
Benjaponpitak, S.8
Vesely, R.9
Sauvain, M.J.10
Oertle, S.11
Allen, R.12
Morgan, G.13
Borkhardt, A.14
Hill, C.15
Gardner-Medwin, J.16
Fischer, A.17
De Saint, B.G.18
-
20
-
-
33847379803
-
Clinical and genetic characterization of Italian patients affected by CINCA syndrome
-
DOI 10.1093/rheumatology/kel269
-
Caroli F, Pontillo A, D'Osualdo A, et al. Clinical and genetic characterization of Italian patients affected by CINCA syndrome. Rheumatology (Oxford) 2007; 46:473-8. (Pubitemid 46344661)
-
(2007)
Rheumatology
, vol.46
, Issue.3
, pp. 473-478
-
-
Caroli, F.1
Pontillo, A.2
D'Osualdo, A.3
Travan, L.4
Ceccherini, I.5
Crovella, S.6
Alessio, M.7
Stabile, A.8
Gattorno, M.9
Tommasini, A.10
Martini, A.11
Lepore, L.12
-
21
-
-
33750341493
-
A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients
-
DOI 10.1136/ard.2006.054304
-
Federici L, Rittore-Domingo C, Kone-Paut I, Jorgensen C, Rodière M, Le Quellec A, Touitou I. A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 2006; 65:1427-32. (Pubitemid 44629117)
-
(2006)
Annals of the Rheumatic Diseases
, vol.65
, Issue.11
, pp. 1427-1432
-
-
Federici, L.1
Rittore-Domingo, C.2
Kone-Paut, I.3
Jorgensen, C.4
Rodiere, M.5
Le, Q.A.6
Touitou, I.7
-
22
-
-
27744593756
-
MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients
-
DOI 10.1002/art.21408
-
Tchemitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in western European Caucasian patients. Arthritis Rheum 2005; 52:3603-5. (Pubitemid 41612230)
-
(2005)
Arthritis and Rheumatism
, vol.52
, Issue.11
, pp. 3603-3605
-
-
Tchernitchko, D.1
Moutereau, S.2
Legendre, M.3
Delahaye, A.4
Cazeneuve, C.5
Lacombe, C.6
Grateau, G.7
Amselem, S.8
-
23
-
-
33644867557
-
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes
-
DOI 10.1093/rheumatology/kei138
-
Simon A, van der Meer JW, Vesely R, Myrdal U, Yoshimura K, Duys P, Drenth JP, International HIDS Study Group. Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford) 2006; 45:269-73. (Pubitemid 43372839)
-
(2006)
Rheumatology
, vol.45
, Issue.3
, pp. 269-273
-
-
Simon, A.1
Van Der Meer, J.W.M.2
Vesely, R.3
Myrdal, U.4
Yoshimura, K.5
Duys, P.6
Drenth, J.P.H.7
Ahlin, A.8
Arvidsson, C.G.9
Betts, P.10
Bijlsma, J.W.J.11
Van den, B.H.R.12
Businco, L.13
Chapelon, C.14
Darroch, C.J.15
David, J.J.16
Van Deuren, M.17
Drewe, E.18
Elias, E.19
Espanol, T.20
Farrell, A.M.21
Fiselier, T.22
Granowitz, E.V.23
Hasper, H.J.24
Jilek, D.25
Knockaert, D.C.26
Korppi, M.27
Kremer, H.P.H.28
Kuijpers, T.W.29
Louis, J.30
De Maat, C.E.M.31
Palmblad, J.32
Pohunek, P.33
Powell, R.J.34
Rasker, J.J.35
Riesbeck, K.36
Saatci, U.37
Schellekens, P.T.A.38
Scolozzi, R.M.39
Stehouwer, C.D.A.40
De Swart, C.A.M.41
Takada, K.42
Tamminga, R.43
De Tribolet, A.T.44
Weemaes, C.M.R.45
more..
-
24
-
-
45349095718
-
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
-
DOI 10.1002/art.23474
-
Gattorno M, Sormani MP, D'Osualdo A, et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 2008; 58:1823-32. (Pubitemid 351847537)
-
(2008)
Arthritis and Rheumatism
, vol.58
, Issue.6
, pp. 1823-1832
-
-
Gattorno, M.1
Sormani, M.P.2
D'Osualdo, A.3
Pelagatti, M.A.4
Caroli, F.5
Federici, S.6
Cecconi, M.7
Solari, N.8
Meini, A.9
Zulian, F.10
Obici, L.11
Breda, L.12
Martino, S.13
Tommasini, A.14
Bossi, G.15
Govers, A.16
Touitou, I.17
Woo, P.18
Frenkel, J.19
Kone-Paut, I.20
Baldi, M.21
Ceccherini, I.22
Martini, A.23
more..
-
25
-
-
0030783102
-
Criteria for the diagnosis of familial Mediterranean fever
-
DOI 10.1002/art.1780401023
-
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. (Pubitemid 27452541)
-
(1997)
Arthritis and Rheumatism
, vol.40
, Issue.10
, 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
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