-
1
-
-
0036745064
-
Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis
-
Aganna E, Martinon F, Hawkins PN, Ross JB, Swan DC, Booth DR, Lachmann HJ, Bybee A, Gaudet R, Woo P, Feighery C, Cotter FE, Thome M, Hitman GA, Tschopp J, McDermott MF (2002) Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum 46:2445-2452
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2445-2452
-
-
Aganna, E.1
Martinon, F.2
Hawkins, P.N.3
Ross, J.B.4
Swan, D.C.5
Booth, D.R.6
Lachmann, H.J.7
Bybee, A.8
Gaudet, R.9
Woo, P.10
Feighery, C.11
Cotter, F.E.12
Thome, M.13
Hitman, G.A.14
Tschopp, J.15
McDermott, M.F.16
-
2
-
-
34247252063
-
The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model
-
Aksentijevich I, C D P, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL (2007) The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 56:1273-1285
-
(2007)
Arthritis Rheum
, vol.56
, pp. 1273-1285
-
-
Aksentijevich, I.C.D.P.1
Remmers, E.F.2
Mueller, J.L.3
Le, J.4
Kolodner, R.D.5
Moak, Z.6
Chuang, M.7
Austin, F.8
Goldbach-Mansky, R.9
Hoffman, H.M.10
Kastner, D.L.11
-
3
-
-
0034926933
-
The tumor-necrosis-factor receptor-associated periodic syndrome: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
-
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, Dean J, Athreya B, Reginato AJ, Henrickson M, Pons-Estel B, O'Shea JJ, Kastner DL (2001) The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 69:301-314
-
(2001)
Am J Hum Genet
, vol.69
, pp. 301-314
-
-
Aksentijevich, I.1
Galon, J.2
Soares, M.3
Mansfield, E.4
Hull, K.5
Oh, H.H.6
Goldbach-Mansky, R.7
Dean, J.8
Athreya, B.9
Reginato, A.J.10
Henrickson, M.11
Pons-Estel, B.12
O'Shea, J.J.13
Kastner, D.L.14
-
4
-
-
0036899758
-
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases
-
Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE, Jr., Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL, Goldbach-Mansky R (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum 46:3340-3348
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3340-3348
-
-
Aksentijevich, I.1
Nowak, M.2
Mallah, M.3
Chae, J.J.4
Watford, W.T.5
Hofmann, S.R.6
Stein, L.7
Russo, R.8
Goldsmith, D.9
Dent, P.10
Rosenberg, H.F.11
Austin, F.12
Remmers, E.F.13
Balow Jr., J.E.14
Rosenzweig, S.15
Komarow, H.16
Shoham, N.G.17
Wood, G.18
Jones, J.19
Mangra, N.20
Carrero, H.21
Adams, B.S.22
Moore, T.L.23
Schikler, K.24
Hoffman, H.25
Lovell, D.J.26
Lipnick, R.27
Barron, K.28
O'Shea, J.J.29
Kastner, D.L.30
Goldbach-Mansky, R.31
more..
-
5
-
-
2342558725
-
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, Lao O, Rius J, Plaza S, Maso M, Vives J, Buades J, Yague J (2004) 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 23:399
-
(2004)
Hum Mutat
, vol.23
, pp. 399
-
-
Aldea, A.1
Calafell, F.2
Arostegui, J.I.3
Lao, O.4
Rius, J.5
Plaza, S.6
Maso, M.7
Vives, J.8
Buades, J.9
Yague, J.10
-
6
-
-
34748925781
-
Mevalonic aciduria cured by bone marrow transplantation
-
Arkwright PD, Abinun M, Cant AJ (2007) Mevalonic aciduria cured by bone marrow transplantation. N Engl J Med 357:1350
-
(2007)
N Engl J Med
, vol.357
, pp. 1350
-
-
Arkwright, P.D.1
Abinun, M.2
Cant, A.J.3
-
7
-
-
0036843133
-
MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: A retrospective clinicopathological and molecular study
-
Balci B, Tinaztepe K, Yilmaz E, Gucer S, Ozen S, Topaloglu R, Besbas N, Ozguc M, Bakkaloglu A (2002) MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study. Nephrol Dial Transplant 17:1921-1923
-
(2002)
Nephrol Dial Transplant
, vol.17
, pp. 1921-1923
-
-
Balci, B.1
Tinaztepe, K.2
Yilmaz, E.3
Gucer, S.4
Ozen, S.5
Topaloglu, R.6
Besbas, N.7
Ozguc, M.8
Bakkaloglu, A.9
-
8
-
-
0018745507
-
Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis
-
Bergdahl K, Bjorksten B, Gustavson KH, Liden S, Probst F (1979) Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. Dermatologica 159:37-45
-
(1979)
Dermatologica
, vol.159
, pp. 37-45
-
-
Bergdahl, K.1
Bjorksten, B.2
Gustavson, K.H.3
Liden, S.4
Probst, F.5
-
9
-
-
34948870193
-
A Single Testing of Serum Amyloid A Levels as a Tool for Diagnosis and Treatment Dilemmas in Familial Mediterranean Fever
-
Berkun Y, Padeh S, Reichman B, Zaks N, Rabinovich E, Lidar M, Shainberg B, Livneh A (2007) A Single Testing of Serum Amyloid A Levels as a Tool for Diagnosis and Treatment Dilemmas in Familial Mediterranean Fever. Semin Arthritis Rheum 37:182-188
-
(2007)
Semin Arthritis Rheum
, vol.37
, pp. 182-188
-
-
Berkun, Y.1
Padeh, S.2
Reichman, B.3
Zaks, N.4
Rabinovich, E.5
Lidar, M.6
Shainberg, B.7
Livneh, A.8
-
10
-
-
0022213722
-
Familial granulomatous arthritis, iritis, and rash
-
Blau EB (1985) Familial granulomatous arthritis, iritis, and rash. J Pediatr 107:689-693
-
(1985)
J Pediatr
, vol.107
, pp. 689-693
-
-
Blau, E.B.1
-
11
-
-
23844552119
-
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: Introducing a vaccination provocation model
-
Bodar EJ, van der Hilst JC, Drenth JP, van der Meer JW, Simon A (2005) Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med 63:260-264
-
(2005)
Neth J Med
, vol.63
, pp. 260-264
-
-
Bodar, E.J.1
Van Der Hilst, J.C.2
Drenth, J.P.3
Van Der Meer, J.W.4
Simon, A.5
-
12
-
-
33845807104
-
Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis
-
Cailliez M, Garaix F, Rousset-Rouviere C, Bruno D, Kone-Paut I, Sarles J, Chabrol B, Tsimaratos M (2006) Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis 29:763
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 763
-
-
Cailliez, M.1
Garaix, F.2
Rousset-Rouviere, C.3
Bruno, D.4
Kone-Paut, I.5
Sarles, J.6
Chabrol, B.7
Tsimaratos, M.8
-
13
-
-
41849105723
-
The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever
-
Calligaris L, Marchetti F, Tommasini A, Ventura A (2008) The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever. Eur J Pediatr 167:695-696
-
(2008)
Eur J Pediatr
, vol.167
, pp. 695-696
-
-
Calligaris, L.1
Marchetti, F.2
Tommasini, A.3
Ventura, A.4
-
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, Pecheux C, Dervichian M, Nedelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dode C, Grateau G, Amselem S (1999) 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 65:88-97
-
(1999)
Am J Hum Genet
, vol.65
, pp. 88-97
-
-
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
-
15
-
-
33745631232
-
The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
-
Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, Kastner DL (2006) The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci USA 103:9982-9987
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 9982-9987
-
-
Chae, J.J.1
Wood, G.2
Masters, S.L.3
Richard, K.4
Park, G.5
Smith, B.J.6
Kastner, D.L.7
-
17
-
-
9744236591
-
Abnormal production of tumor necrosis factor (TNF) - Alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]
-
Cortis E, De Benedetti F, Insalaco A, Cioschi S, Muratori F, D'Urbano LE, Ugazio AG (2004) Abnormal production of tumor necrosis factor (TNF) - alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected]. J Pediatr 145:851-855
-
(2004)
J Pediatr
, vol.145
, pp. 851-855
-
-
Cortis, E.1
De Benedetti, F.2
Insalaco, A.3
Cioschi, S.4
Muratori, F.5
D'Urbano, L.E.6
Ugazio, A.G.7
-
18
-
-
0033358561
-
Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44
-
Cuisset L, Drenth JP, Berthelot JM, Meyrier A, Vaudour G, Watts RA, Scott DG, Nicholls A, Pavek S, Vasseur C, Beckmann JS, Delpech M, Grateau G (1999) Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet 65:1054-1059
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1054-1059
-
-
Cuisset, L.1
Drenth, J.P.2
Berthelot, J.M.3
Meyrier, A.4
Vaudour, G.5
Watts, R.A.6
Scott, D.G.7
Nicholls, A.8
Pavek, S.9
Vasseur, C.10
Beckmann, J.S.11
Delpech, M.12
Grateau, G.13
-
20
-
-
0016251282
-
Colchicine therapy for familial mediterranean fever. A double-blind trial
-
Dinarello CA, Wolff SM, Goldfinger SE, Dale DC, Alling DW (1974) Colchicine therapy for familial mediterranean fever. A double-blind trial. N Engl J Med 291:934-937
-
(1974)
N Engl J Med
, vol.291
, pp. 934-937
-
-
Dinarello, C.A.1
Wolff, S.M.2
Goldfinger, S.E.3
Dale, D.C.4
Alling, D.W.5
-
21
-
-
18344385660
-
New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
-
Dode C, Le Du N, Cuisset L, Letourneur F, Berthelot JM, Vaudour G, Meyrier A, Watts RA, Scott DG, Nicholls A, Granel B, Frances C, Garcier F, Edery P, Boulinguez S, Domergues JP, Delpech M, Grateau G (2002) New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 70:1498-1506
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1498-1506
-
-
Dode, C.1
Le Du, N.2
Cuisset, L.3
Letourneur, F.4
Berthelot, J.M.5
Vaudour, G.6
Meyrier, A.7
Watts, R.A.8
Scott, D.G.9
Nicholls, A.10
Granel, B.11
Frances, C.12
Garcier, F.13
Edery, P.14
Boulinguez, S.15
Domergues, J.P.16
Delpech, M.17
Grateau, G.18
-
22
-
-
0033039501
-
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
-
Drenth J P, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22:178-181
-
(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
-
23
-
-
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 JW (1994) Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore) 73:133-144.
-
(1994)
Medicine (Baltimore)
, vol.73
, pp. 133-144
-
-
Drenth, J.P.1
Haagsma, C.J.2
Van Der Meer, J.W.3
-
24
-
-
0037295409
-
Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): Clinical and laboratory findings in a series of seven patients
-
Drewe E, McDermott EM, Powell PT, Isaacs JD, Powell RJ (2003) Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients. Rheumatology (Oxford) 42:235-239
-
(2003)
Rheumatology (Oxford)
, vol.42
, pp. 235-239
-
-
Drewe, E.1
McDermott, E.M.2
Powell, P.T.3
Isaacs, J.D.4
Powell, R.J.5
-
25
-
-
0042699996
-
Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever
-
Duzova A, Bakkaloglu A, Besbas N, Topaloglu R, Ozen S, Ozaltin F, Bassoy Y, Yilmaz E (2003) Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol 21:509-514
-
(2003)
Clin Exp Rheumatol
, vol.21
, pp. 509-514
-
-
Duzova, A.1
Bakkaloglu, A.2
Besbas, N.3
Topaloglu, R.4
Ozen, S.5
Ozaltin, F.6
Bassoy, Y.7
Yilmaz, E.8
-
26
-
-
0036792304
-
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels
-
Edrees AF, Kaplan DL, Abdou NI (2002) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome (PAPA syndrome) associated with hypogammaglobulinemia and elevated serum tumor necrosis factor-alpha levels. J Clin Rheumatol 8:273-275
-
(2002)
J Clin Rheumatol
, vol.8
, pp. 273-275
-
-
Edrees, A.F.1
Kaplan, D.L.2
Abdou, N.I.3
-
27
-
-
34548448934
-
Chronic recurrent multifocal osteomyelitis: A concise review and genetic update
-
El-Shanti HI, Ferguson PJ (2007) Chronic Recurrent Multifocal Osteomyelitis: A Concise Review and Genetic Update. Clin Orthop Relat Res 462:11-19
-
(2007)
Clin Orthop Relat Res
, vol.462
, pp. 11-19
-
-
El-Shanti, H.I.1
Ferguson, P.J.2
-
28
-
-
33750341493
-
A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients
-
Federici L, Rittore-Domingo C, Kone-Paut I, Jorgensen C, Rodiere M, Le Quellec A, Touitou I (2006) A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients. Ann Rheum Dis 65:1427-1432
-
(2006)
Ann Rheum Dis
, vol.65
, pp. 1427-1432
-
-
Federici, L.1
Rittore-Domingo, C.2
Kone-Paut, I.3
Jorgensen, C.4
Rodiere, M.5
Le Quellec, A.6
Touitou, I.7
-
29
-
-
0036302235
-
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes
-
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71:198-203
-
(2002)
Am J Hum Genet
, vol.71
, pp. 198-203
-
-
Feldmann, J.1
Prieur, A.M.2
Quartier, P.3
Berquin, P.4
Certain, S.5
Cortis, E.6
Teillac-Hamel, D.7
Fischer, A.8
De Saint Basile, G.9
-
30
-
-
29344448820
-
A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis
-
Ferguson PJ, Bing X, Vasef MA, Ochoa LA, Mahgoub A, Waldschmidt TJ, Tygrett LT, Schlueter AJ, El-Shanti H (2006) A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone 38:41-47
-
(2006)
Bone
, vol.38
, pp. 41-47
-
-
Ferguson, P.J.1
Bing, X.2
Vasef, M.A.3
Ochoa, L.A.4
Mahgoub, A.5
Waldschmidt, T.J.6
Tygrett, L.T.7
Schlueter, A.J.8
El-Shanti, H.9
-
31
-
-
22244469461
-
Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome)
-
Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A, Munnich A, Lyonnet S, Majeed HA, El-Shanti H (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42:551-557
-
(2005)
J Med Genet
, vol.42
, pp. 551-557
-
-
Ferguson, P.J.1
Chen, S.2
Tayeh, M.K.3
Ochoa, L.4
Leal, S.M.5
Pelet, A.6
Munnich, A.7
Lyonnet, S.8
Majeed, H.A.9
El-Shanti, H.10
-
33
-
-
18644370644
-
Rapid responses to anakinra in patients with refractory adult-onset Still's disease
-
Fitzgerald AA, Leclercq SA, Ya n A, Homik JE, Dinarello CA (2005) Rapid responses to anakinra in patients with refractory adult-onset Still's disease. Arthritis Rheum 52:1794-1803
-
(2005)
Arthritis Rheum
, vol.52
, pp. 1794-1803
-
-
Fitzgerald, A.A.1
Leclercq, S.A.2
Yan, A.3
Homik, J.E.4
Dinarello, C.A.5
-
34
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
Consortium
-
French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25-31
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
French, F.M.F.1
-
35
-
-
0034987162
-
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D
-
Frenkel J, Houten SM, Waterham HR, Wanders RJ, Rijkers GT, Duran M, Kuijpers TW, van Luijk W, Poll-The BT, Kuis W (2001) Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatology (Oxford) 40:579-584
-
(2001)
Rheumatology (Oxford)
, vol.40
, pp. 579-584
-
-
Frenkel, J.1
Houten, S.M.2
Waterham, H.R.3
Wanders, R.J.4
Rijkers, G.T.5
Duran, M.6
Kuijpers, T.W.7
Van Luijk, W.8
Poll-The, B.T.9
Kuis, W.10
-
36
-
-
0036263463
-
PFAPA syndrome in children evaluated for tonsillectomy
-
Galanakis E, Papadakis CE, Giannoussi E, Karatzanis AD, Bitsori M, Helidonis ES (2002) PFAPA syndrome in children evaluated for tonsillectomy. Arch Dis Child 86:434-435
-
(2002)
Arch Dis Child
, vol.86
, pp. 434-435
-
-
Galanakis, E.1
Papadakis, C.E.2
Giannoussi, E.3
Karatzanis, A.D.4
Bitsori, M.5
Helidonis, E.S.6
-
37
-
-
34848875155
-
Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations
-
Gattorno M, Tassi S, Carta S, Delfino L, Ferlito F, Pelagatti MA, D'Osualdo A, Buoncompagni A, Alpigiani MG, Alessio M, Martini A, Rubartelli A (2007) Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleukin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum 56:3138-3148
-
(2007)
Arthritis Rheum
, vol.56
, pp. 3138-3148
-
-
Gattorno, M.1
Tassi, S.2
Carta, S.3
Delfino, L.4
Ferlito, F.5
Pelagatti, M.A.6
D'Osualdo, A.7
Buoncompagni, A.8
Alpigiani, M.G.9
Alessio, M.10
Martini, A.11
Rubartelli, A.12
-
38
-
-
0037388591
-
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 (2003) The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 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
-
39
-
-
33746876396
-
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
-
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL (2006) Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355:581-592
-
(2006)
N Engl J Med
, vol.355
, pp. 581-592
-
-
Goldbach-Mansky, R.1
Dailey, N.J.2
Canna, S.W.3
Gelabert, A.4
Jones, J.5
Rubin, B.I.6
Kim, H.J.7
Brewer, C.8
Zalewski, C.9
Wiggs, E.10
Hill, S.11
Turner, M.L.12
Karp, B.I.13
Aksentijevich, I.14
Pucino, F.15
Penzak, S.R.16
Haverkamp, M.H.17
Stein, L.18
Adams, B.S.19
Moore, T.L.20
Fuhlbrigge, R.C.21
Shaham, B.22
Jarvis, J.N.23
O'Neil, K.24
Vehe, R.K.25
Beitz, L.O.26
Gardner, G.27
Hannan, W.P.28
Warren, R.W.29
Horn, W.30
Cole, J.L.31
Paul, S.M.32
Hawkins, P.N.33
Pham, T.H.34
Snyder, C.35
Wesley, R.A.36
Hoffmann, S.C.37
Holland, S.M.38
Butman, J.A.39
Kastner, D.L.40
more..
-
40
-
-
0015519154
-
Colchicine for familial Mediterranean fever
-
Goldfinger SE (1972) Colchicine for familial Mediterranean fever. N Engl J Med 287:1302
-
(1972)
N Engl J Med
, vol.287
, pp. 1302
-
-
Goldfinger, S.E.1
-
41
-
-
85047695184
-
Chronic recurrent multifocal osteomyelitis (CRMO): Evidence for a susceptibility gene located on chromosome 18q21.3-18q22
-
Golla A, Jansson A, Ramser J, Hellebrand H, Zahn R, Meitinger T, Belohradsky BH, Meindl A (2002) Chronic recurrent multifocal osteomyelitis (CRMO): evidence for a susceptibility gene located on chromosome 18q21.3-18q22. Eur J Hum Genet 10:217-221
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 217-221
-
-
Golla, A.1
Jansson, A.2
Ramser, J.3
Hellebrand, H.4
Zahn, R.5
Meitinger, T.6
Belohradsky, B.H.7
Meindl, A.8
-
42
-
-
17844372780
-
Behcet's disease as an autoinflammatory disorder
-
Gul A (2005) Behcet's disease as an autoinflammatory disorder. Curr Drug Targets Inflamm Allergy 4:81-83
-
(2005)
Curr Drug Targets Inflamm Allergy
, vol.4
, pp. 81-83
-
-
Gul, A.1
-
43
-
-
0037108346
-
Cutting edge: CATERPILLER: A large family of mammalian genes containing CARD, pyrin, nucleotide-binding, and leucine-rich repeat domains
-
Harton JA, Linhoff MW, Zhang J, Ting JP (2002) Cutting edge: CATERPILLER: a large family of mammalian genes containing CARD, pyrin, nucleotide-binding, and leucine-rich repeat domains. J Immunol 169:4088-4093
-
(2002)
J Immunol
, vol.169
, pp. 4088-4093
-
-
Harton, J.A.1
Linhoff, M.W.2
Zhang, J.3
Ting, J.P.4
-
44
-
-
0020631580
-
Neonatal onset multisystem inflammatory disease
-
Hassink SG, Goldsmith DP (1983) Neonatal onset multisystem inflammatory disease. Arthritis Rheum 26:668-673
-
(1983)
Arthritis Rheum
, vol.26
, pp. 668-673
-
-
Hassink, S.G.1
Goldsmith, D.P.2
-
45
-
-
1042290321
-
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra
-
Hawkins PN, Lachmann HJ, Aganna E, McDermott MF (2004) Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50:607-612
-
(2004)
Arthritis Rheum
, vol.50
, pp. 607-612
-
-
Hawkins, P.N.1
Lachmann, H.J.2
Aganna, E.3
McDermott, M.F.4
-
47
-
-
0020057862
-
Sarcoidosis in young children
-
Hetherington S (1982) Sarcoidosis in young children. Am J Dis Child 136:13-15
-
(1982)
Am J Dis Child
, vol.136
, pp. 13-15
-
-
Hetherington, S.1
-
48
-
-
0035179970
-
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
-
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 29:301-305
-
(2001)
Nat Genet
, vol.29
, pp. 301-305
-
-
Hoffman, H.M.1
Mueller, J.L.2
Broide, D.H.3
Wanderer, A.A.4
Kolodner, R.D.5
-
49
-
-
8444225132
-
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist
-
Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, Anderson J P, Wanderer AA, Firestein GS (2004) Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 364:1779-1785
-
(2004)
Lancet
, vol.364
, pp. 1779-1785
-
-
Hoffman, H.M.1
Rosengren, S.2
Boyle, D.L.3
Cho, J.Y.4
Nayar, J.5
Mueller, J.L.6
Anderson, J.P.7
Wanderer, A.A.8
Firestein, G.S.9
-
50
-
-
0034774916
-
Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever
-
Hoffman HM, Wanderer AA, Broide DH (2001) Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 108:615-620
-
(2001)
J Allergy Clin Immunol
, vol.108
, pp. 615-620
-
-
Hoffman, H.M.1
Wanderer, A.A.2
Broide, D.H.3
-
51
-
-
0027529504
-
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria
-
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, Divry P, Hrebicek M, Lehnert W, Sartor K, et al. (1993) Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 91:915-921
-
(1993)
Pediatrics
, vol.91
, pp. 915-921
-
-
Hoffmann, G.F.1
Charpentier, C.2
Mayatepek, E.3
Mancini, J.4
Leichsenring, M.5
Gibson, K.M.6
Divry, P.7
Hrebicek, M.8
Lehnert, W.9
Sartor, K.10
-
52
-
-
1842869873
-
Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
-
Houten SM, Frenkel J, Rijkers GT, Wanders RJ, Kuis W, Waterham HR (2002) Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome. Hum Mol Genet 11:3115-3124
-
(2002)
Hum Mol Genet
, vol.11
, pp. 3115-3124
-
-
Houten, S.M.1
Frenkel, J.2
Rijkers, G.T.3
Wanders, R.J.4
Kuis, W.5
Waterham, H.R.6
-
53
-
-
0032987982
-
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
-
Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22:175-177
-
(1999)
Nat Genet
, vol.22
, pp. 175-177
-
-
Houten, S.M.1
Kuis, W.2
Duran, M.3
De Koning, T.J.4
Van Royen-Kerkhof, A.5
Romeijn, G.J.6
Frenkel, J.7
Dorland, L.8
De Barse, M.M.9
Huijbers, W.A.10
Rijkers, G.T.11
Waterham, H.R.12
Wanders, R.J.13
Poll-The, B.T.14
-
54
-
-
0036695840
-
Chronic recurrent multifocal osteomyelitis: Clinical outcomes after more than five years of follow-up
-
Huber AM, Lam PY, Duffy CM, Yeung RS, Ditchfield M, Laxer D, Cole WG, Kerr Graham H, Allen RC, Laxer RM (2002) Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up. J Pediatr 141:198-203
-
(2002)
J Pediatr
, vol.141
, pp. 198-203
-
-
Huber, A.M.1
Lam, P.Y.2
Duffy, C.M.3
Yeung, R.S.4
Ditchfield, M.5
Laxer, D.6
Cole, W.G.7
Kerr Graham, H.8
Allen, R.C.9
Laxer, R.M.10
-
55
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot J P, Chamaillard M, Zouali H, Lesage S, Cezard J P, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411:599-603
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
Lesage, S.4
Cezard, J.P.5
Belaiche, J.6
Almer, S.7
Tysk, C.8
O'Morain, C.A.9
Gassull, M.10
Binder, V.11
Finkel, Y.12
Cortot, A.13
Modigliani, R.14
Laurent-Puig, P.15
Gower-Rousseau, C.16
Macry, J.17
Colombel, J.F.18
Sahbatou, M.19
Thomas, G.20
more..
-
56
-
-
0036733312
-
The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder
-
Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, Powell RJ, Kastner DL (2002) The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 81:349-368
-
(2002)
Medicine (Baltimore)
, vol.81
, pp. 349-368
-
-
Hull, K.M.1
Drewe, E.2
Aksentijevich, I.3
Singh, H.K.4
Wong, K.5
McDermott, E.M.6
Dean, J.7
Powell, R.J.8
Kastner, D.L.9
-
57
-
-
0038624558
-
NODs: Intracellular proteins involved in inflammation and apoptosis
-
Inohara N, Nunez G (2003) NODs: intracellular proteins involved in inflammation and apoptosis. Nat Rev Immunol 3:371-382
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 371-382
-
-
Inohara, N.1
Nunez, G.2
-
58
-
-
0030745449
-
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever
-
International FMF Consortium
-
International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797-807
-
(1997)
Cell
, vol.90
, pp. 797-807
-
-
-
59
-
-
0021802275
-
Familial granulomatous synovitis, uveitis, and cranial neuropathies
-
Jabs DA, Houk JL, Bias WB, Arnett FC (1985) Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am J Med 78:801-804
-
(1985)
Am J Med
, vol.78
, pp. 801-804
-
-
Jabs, D.A.1
Houk, J.L.2
Bias, W.B.3
Arnett, F.C.4
-
60
-
-
34447308222
-
Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS)
-
Jacobelli S, Andre M, Alexandra JF, Dode C, Papo T (2007) Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS). Rheumatology (Oxford) 46:1211-1212
-
(2007)
Rheumatology (Oxford)
, vol.46
, pp. 1211-1212
-
-
Jacobelli, S.1
Andre, M.2
Alexandra, J.F.3
Dode, C.4
Papo, T.5
-
61
-
-
33845594483
-
Classification of non-bacterial osteitis: Retrospective study of clinical, immunological and genetic aspects in 89 patients
-
Jansson A, Renner ED, Ramser J, Mayer A, Haban M, Meindl A, Grote V, Diebold J, Jansson V, Schneider K, Belohradsky BH (2007) Classification of non-bacterial osteitis: retrospective study of clinical, immunological and genetic aspects in 89 patients. Rheumatology (Oxford) 46:154-160
-
(2007)
Rheumatology (Oxford)
, vol.46
, pp. 154-160
-
-
Jansson, A.1
Renner, E.D.2
Ramser, J.3
Mayer, A.4
Haban, M.5
Meindl, A.6
Grote, V.7
Diebold, J.8
Jansson, V.9
Schneider, K.10
Belohradsky, B.H.11
-
62
-
-
33947186204
-
Colchicine use in children and adolescents with familial Mediterranean fever: Literature review and consensus statement
-
Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U, Schaefer C, Stojanov S, Timmann C, Keitzer R, Ozdogan H, Ozen S (2007) Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 119:e474-483
-
(2007)
Pediatrics
, vol.119
-
-
Kallinich, T.1
Haffner, D.2
Niehues, T.3
Huss, K.4
Lainka, E.5
Neudorf, U.6
Schaefer, C.7
Stojanov, S.8
Timmann, C.9
Keitzer, R.10
Ozdogan, H.11
Ozen, S.12
-
63
-
-
34249799278
-
Anakinra treatment in patients with adult-onset Still's disease is fast, effective, safe and steroid sparing: Experience from an uncontrolled trial
-
Kalliolias GD, Georgiou PE, Antonopoulos IA, Andonopoulos AP, Liossis SN (2007) Anakinra treatment in patients with adult-onset Still's disease is fast, effective, safe and steroid sparing: experience from an uncontrolled trial. Ann Rheum Dis 66:842-843
-
(2007)
Ann Rheum Dis
, vol.66
, pp. 842-843
-
-
Kalliolias, G.D.1
Georgiou, P.E.2
Antonopoulos, I.A.3
Andonopoulos, A.P.4
Liossis, S.N.5
-
64
-
-
1842740034
-
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation
-
Kanazawa N, Matsushima S, Kambe N, Tachibana T, Nagai S, Miyachi Y (2004) Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J Invest Dermatol 122:851-852
-
(2004)
J Invest Dermatol
, vol.122
, pp. 851-852
-
-
Kanazawa, N.1
Matsushima, S.2
Kambe, N.3
Tachibana, T.4
Nagai, S.5
Miyachi, Y.6
-
65
-
-
19944431022
-
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: Common genetic etiology with Blau syndrome
-
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood 105:1195-1197
-
(2005)
Blood
, vol.105
, pp. 1195-1197
-
-
Kanazawa, N.1
Okafuji, I.2
Kambe, N.3
Nishikomori, R.4
Nakata-Hizume, M.5
Nagai, S.6
Fuji, A.7
Yuasa, T.8
Manki, A.9
Sakurai, Y.10
Nakajima, M.11
Kobayashi, H.12
Fujiwara, I.13
Tsutsumi, H.14
Utani, A.15
Nishigori, C.16
Heike, T.17
Nakahata, T.18
Miyachi, Y.19
-
66
-
-
0001380014
-
A case of cold urticaria with an unusual family history
-
Kile RL RH (1940) A case of cold urticaria with an unusual family history. JAMA 114:1067-1068
-
(1940)
JAMA
, vol.114
, pp. 1067-1068
-
-
Kile, R.L.R.H.1
-
67
-
-
34249830128
-
Autoinflammatory gene mutations in Behcet's disease
-
Kone-Paut I, Sanchez E, Le Quellec A, Manna R, Touitou I (2007) Autoinflammatory gene mutations in Behcet's disease. Ann Rheum Dis 66:832-834
-
(2007)
Ann Rheum Dis
, vol.66
, pp. 832-834
-
-
Kone-Paut, I.1
Sanchez, E.2
Le Quellec, A.3
Manna, R.4
Touitou, I.5
-
68
-
-
0037405561
-
Familial Mediterranean fever associated pyrin mutations in Greece
-
Konstantopoulos K, Kanta A, Deltas C, Atamian V, Mavrogianni D, Tzioufas AG, Kollainis I, Ritis K, Moutsopoulos HM (2003) Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis 62:479-481
-
(2003)
Ann Rheum Dis
, vol.62
, pp. 479-481
-
-
Konstantopoulos, K.1
Kanta, A.2
Deltas, C.3
Atamian, V.4
Mavrogianni, D.5
Tzioufas, A.G.6
Kollainis, I.7
Ritis, K.8
Moutsopoulos, H.M.9
-
69
-
-
0037262046
-
Familial Mediterranean fever is no longer a rare disease in Italy
-
La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C, Kone-Paut I, Touitou I, Manna R (2003) Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 11:50-56
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 50-56
-
-
La Regina, M.1
Nucera, G.2
Diaco, M.3
Procopio, A.4
Gasbarrini, G.5
Notarnicola, C.6
Kone-Paut, I.7
Touitou, I.8
Manna, R.9
-
70
-
-
33744762729
-
Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
-
Lachmann HJ, Sengul B, Yavuzsen TU, Booth DR, Booth SE, Bybee A, Gallimore JR, Soyturk M, Akar S, Tunca M, Hawkins PN (2006) Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 45:746-750
-
(2006)
Rheumatology (Oxford)
, vol.45
, pp. 746-750
-
-
Lachmann, H.J.1
Sengul, B.2
Yavuzsen, T.U.3
Booth, D.R.4
Booth, S.E.5
Bybee, A.6
Gallimore, J.R.7
Soyturk, M.8
Akar, S.9
Tunca, M.10
Hawkins, P.N.11
-
71
-
-
0028101194
-
Protracted febrile myalgia in patients with familial Mediterranean fever
-
Langevitz P, Zemer D, Livneh A, Shemer J, Pras M (1994) Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 21:1708-1709
-
(1994)
J Rheumatol
, vol.21
, pp. 1708-1709
-
-
Langevitz, P.1
Zemer, D.2
Livneh, A.3
Shemer, J.4
Pras, M.5
-
72
-
-
0023911822
-
Chronic recurrent multifocal osteomyelitis and psoriasis - A report of a new association and review of related disorders
-
Laxer RM, Shore AD, Manson D, King S, Silverman ED, Wilmot DM (1988) Chronic recurrent multifocal osteomyelitis and psoriasis - a report of a new association and review of related disorders. Semin Arthritis Rheum 17:260-270
-
(1988)
Semin Arthritis Rheum
, vol.17
, pp. 260-270
-
-
Laxer, R.M.1
Shore, A.D.2
Manson, D.3
King, S.4
Silverman, E.D.5
Wilmot, D.M.6
-
73
-
-
33749576581
-
Is there a role for the otolaryngologist in PFAPA syndrome? A systematic review
-
Leong SC, Karkos PD, Apostolidou MT (2006) Is there a role for the otolaryngologist in PFAPA syndrome? A systematic review. Int J Pediatr Otorhinolaryngol 70:1841-1845
-
(2006)
Int J Pediatr Otorhinolaryngol
, vol.70
, pp. 1841-1845
-
-
Leong, S.C.1
Karkos, P.D.2
Apostolidou, M.T.3
-
74
-
-
0030804743
-
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome
-
Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT (1997) A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc 72:611-615
-
(1997)
Mayo Clin Proc
, vol.72
, pp. 611-615
-
-
Lindor, N.M.1
Arsenault, T.M.2
Solomon, H.3
Seidman, C.E.4
McEvoy, M.T.5
-
75
-
-
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 (1999) MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 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
-
76
-
-
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 (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879-1885
-
(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
-
77
-
-
33747162175
-
Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)
-
Lobito AA, Kimberley FC, Muppidi JR, Komarow H, Jackson AJ, Hull KM, Kastner DL, Screaton GR, Siegel RM (2006) Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS). Blood 108:1320-1327
-
(2006)
Blood
, vol.108
, pp. 1320-1327
-
-
Lobito, A.A.1
Kimberley, F.C.2
Muppidi, J.R.3
Komarow, H.4
Jackson, A.J.5
Hull, K.M.6
Kastner, D.L.7
Screaton, G.R.8
Siegel, R.M.9
-
78
-
-
33746998472
-
Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
-
Mandey SH, Schneiders MS, Koster J, Waterham HR (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat 27:796-802
-
(2006)
Hum Mutat
, vol.27
, pp. 796-802
-
-
Mandey, S.H.1
Schneiders, M.S.2
Koster, J.3
Waterham, H.R.4
-
79
-
-
0023230159
-
Syndrome of periodic fever, pharyngitis, and aphthous stomatitis
-
Marshall GS, Edwards KM, Butler J, Lawton AR (1987) Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 110:43-46
-
(1987)
J Pediatr
, vol.110
, pp. 43-46
-
-
Marshall, G.S.1
Edwards, K.M.2
Butler, J.3
Lawton, A.R.4
-
81
-
-
33845497181
-
Inflammatory caspases and inflammasomes: Master switches of inflammation
-
Martinon F, Tschopp J (2007) Inflammatory caspases and inflammasomes: master switches of inflammation. Cell Death Differ 14:10-22
-
(2007)
Cell Death Differ
, vol.14
, pp. 10-22
-
-
Martinon, F.1
Tschopp, J.2
-
82
-
-
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, 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 G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97:133-144
-
(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, 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..
-
83
-
-
34548522759
-
From inflammasomes to fevers, crystals and hypertension: How basic research explains inflammatory diseases
-
McDermott MF, Tschopp J (2007) From inflammasomes to fevers, crystals and hypertension: how basic research explains inflammatory diseases. Trends Mol Med 13:381-388
-
(2007)
Trends Mol Med
, vol.13
, pp. 381-388
-
-
McDermott, M.F.1
Tschopp, J.2
-
84
-
-
33748367018
-
A proposed classification of the immunological diseases
-
McGonagle D, McDermott MF (2006) A proposed classification of the immunological diseases. PLoS Med 3:e297
-
(2006)
PLoS Med
, vol.3
-
-
McGonagle, D.1
McDermott, M.F.2
-
85
-
-
33749990239
-
Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease
-
Metyas SK, Hoffman HM (2006) Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease. J Rheumatol 33:2085-2087.
-
(2006)
J Rheumatol
, vol.33
, pp. 2085-2087
-
-
Metyas, S.K.1
Hoffman, H.M.2
-
86
-
-
17944372335
-
CARD15 mutations in Blau syndrome
-
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, Chamaillard M, Zouali H, Thomas G, Hugot JP (2001) CARD15 mutations in Blau syndrome. Nat Genet 29:19-20
-
(2001)
Nat Genet
, vol.29
, pp. 19-20
-
-
Miceli-Richard, C.1
Lesage, S.2
Rybojad, M.3
Prieur, A.M.4
Manouvrier-Hanu, S.5
Hafner, R.6
Chamaillard, M.7
Zouali, H.8
Thomas, G.9
Hugot, J.P.10
-
87
-
-
0022542441
-
Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis) ": The same disease
-
Miller JJ, 3rd (1986) Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis) ": the same disease. J Pediatr 109:387-388
-
(1986)
J Pediatr
, vol.109
, pp. 387-388
-
-
Miller III, J.J.1
-
88
-
-
33845707639
-
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation
-
Milman N, Andersen CB, Hansen A, van Overeem Hansen T, Nielsen FC, Fledelius H, Ahrens P, Nielsen OH (2006) Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. Apmis 114:912-919
-
(2006)
Apmis
, vol.114
, pp. 912-919
-
-
Milman, N.1
Andersen, C.B.2
Hansen, A.3
Van Overeem Hansen, T.4
Nielsen, F.C.5
Fledelius, H.6
Ahrens, P.7
Nielsen, O.H.8
-
89
-
-
33646492304
-
Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra
-
Mirault T, Launay D, Cuisset L, Hachulla E, Lambert M, Queyrel V, Quemeneur T, Morell-Dubois S, Hatron PY (2006) Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra. Arthritis Rheum 54:1697-1700
-
(2006)
Arthritis Rheum
, vol.54
, pp. 1697-1700
-
-
Mirault, T.1
Launay, D.2
Cuisset, L.3
Hachulla, E.4
Lambert, M.5
Queyrel, V.6
Quemeneur, T.7
Morell-Dubois, S.8
Hatron, P.Y.9
-
90
-
-
33846846354
-
Familial Mediterranean fever successfully treated with etanercept
-
Mor A, Pillinger MH, Kishimoto M, Abeles AM, Livneh A (2007) Familial Mediterranean fever successfully treated with etanercept. J Clin Rheumatol 13:38-40
-
(2007)
J Clin Rheumatol
, vol.13
, pp. 38-40
-
-
Mor, A.1
Pillinger, M.H.2
Kishimoto, M.3
Abeles, A.M.4
Livneh, A.5
-
91
-
-
73649189052
-
Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome
-
Muckle TW, M. (1962) Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med 31:235-248
-
(1962)
Q J Med
, vol.31
, pp. 235-248
-
-
Muckle, T.W.M.1
-
92
-
-
12144288979
-
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU
-
Neven B, Callebaut I, Prieur AM, Feldmann J, Bodemer C, Lepore L, Derfalvi B, Benjaponpitak S, Vesely R, Sauvain MJ, Oertle S, Allen R, Morgan G, Borkhardt A, Hill C, Gardner-Medwin J, Fischer A, de Saint Basile G (2004) Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood 103:2809-2815
-
(2004)
Blood
, vol.103
, 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 Basile, G.18
-
93
-
-
34347233869
-
Allogeneic bone marrow transplantation in mevalonic aciduria
-
Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debre M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A (2007) Allogeneic bone marrow transplantation in mevalonic aciduria. N Engl J Med 356:2700-2703
-
(2007)
N Engl J Med
, vol.356
, pp. 2700-2703
-
-
Neven, B.1
Valayannopoulos, V.2
Quartier, P.3
Blanche, S.4
Prieur, A.M.5
Debre, M.6
Rolland, M.O.7
Rabier, D.8
Cuisset, L.9
Cavazzana-Calvo, M.10
De Lonlay, P.11
Fischer, A.12
-
94
-
-
33947112776
-
Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency
-
Nevyjel M, Pontillo A, Calligaris L, Tommasini A, D'Osualdo A, Waterham HR, Granzotto M, Crovella S, Barbi E, Ventura A (2007) Diagnostics and therapeutic insights in a severe case of mevalonate kinase deficiency. Pediatrics 119:e523-527
-
(2007)
Pediatrics
, vol.119
-
-
Nevyjel, M.1
Pontillo, A.2
Calligaris, L.3
Tommasini, A.4
D'Osualdo, A.5
Waterham, H.R.6
Granzotto, M.7
Crovella, S.8
Barbi, E.9
Ventura, A.10
-
95
-
-
0035978533
-
A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
-
Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606
-
(2001)
Nature
, vol.411
, pp. 603-606
-
-
Ogura, Y.1
Bonen, D.K.2
Inohara, N.3
Nicolae, D.L.4
Chen, F.F.5
Ramos, R.6
Britton, H.7
Moran, T.8
Karaliuskas, R.9
Duerr, R.H.10
Achkar, J.P.11
Brant, S.R.12
Bayless, T.M.13
Kirschner, B.S.14
Hanauer, S.B.15
Nunez, G.16
Cho, J.H.17
-
96
-
-
33644868346
-
Possible effect of subclinical inflammation on daily life in familial Mediterranean fever
-
Ozcakar ZB, Yalcinkaya F, Yuksel S, Acar B, Gokmen D, Ekim M (2006) Possible effect of subclinical inflammation on daily life in familial Mediterranean fever. Clin Rheumatol 25:149-152
-
(2006)
Clin Rheumatol
, vol.25
, pp. 149-152
-
-
Ozcakar, Z.B.1
Yalcinkaya, F.2
Yuksel, S.3
Acar, B.4
Gokmen, D.5
Ekim, M.6
-
97
-
-
16244403344
-
Periodic fever syndromes
-
vii
-
Padeh S (2005) Periodic fever syndromes. Pediatr Clin North Am 52:577-609, vii
-
(2005)
Pediatr Clin North Am
, vol.52
, pp. 577-609
-
-
Padeh, S.1
-
98
-
-
0033504364
-
Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: Clinical characteristics and outcome
-
Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, Migdal A, Pras M, Passwell JH (1999) Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 135:98-101
-
(1999)
J Pediatr
, vol.135
, pp. 98-101
-
-
Padeh, S.1
Brezniak, N.2
Zemer, D.3
Pras, E.4
Livneh, A.5
Langevitz, P.6
Migdal, A.7
Pras, M.8
Passwell, J.H.9
-
99
-
-
34547138176
-
The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing
-
Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, Grutter C, Grutter M, Tschopp J (2007) The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 14:1457-1466
-
(2007)
Cell Death Differ
, vol.14
, pp. 1457-1466
-
-
Papin, S.1
Cuenin, S.2
Agostini, L.3
Martinon, F.4
Werner, S.5
Beer, H.D.6
Grutter, C.7
Grutter, M.8
Tschopp, J.9
-
100
-
-
0038580666
-
Utility of tonsillectomy in 2 patients with the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis
-
Parikh SR, Reiter ER, Kenna MA, Roberson D (2003) Utility of tonsillectomy in 2 patients with the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Arch Otolaryngol Head Neck Surg 129:670-673
-
(2003)
Arch Otolaryngol Head Neck Surg
, vol.129
, pp. 670-673
-
-
Parikh, S.R.1
Reiter, E.R.2
Kenna, M.A.3
Roberson, D.4
-
101
-
-
18644385243
-
Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade
-
Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J (2005) Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med 201:1479-1486
-
(2005)
J Exp Med
, vol.201
, pp. 1479-1486
-
-
Pascual, V.1
Allantaz, F.2
Arce, E.3
Punaro, M.4
Banchereau, J.5
-
102
-
-
33746354627
-
A multicenter study of patients with adultonset Still's disease compared with systemic juvenile idiopathic arthritis
-
Pay S, Turkcapar N, Kalyoncu M, Simsek I, Beyan E, Ertenli I, Ozturk MA, Duzgun N, Erdem H, Ozbalkan Z, Kiraz S, Kinikli G, Besbas N, Dinc A, Ates A, Olmez U, Calguneri M, Aydintug OT, Bakkaloglu A, Turan M, Turgay M, Karaaslan Y, Topaloglu R, Duman M, Ozen S (2006) A multicenter study of patients with adultonset Still's disease compared with systemic juvenile idiopathic arthritis. Clin Rheumatol 25:639-644
-
(2006)
Clin Rheumatol
, vol.25
, pp. 639-644
-
-
Pay, S.1
Turkcapar, N.2
Kalyoncu, M.3
Simsek, I.4
Beyan, E.5
Ertenli, I.6
Ozturk, M.A.7
Duzgun, N.8
Erdem, H.9
Ozbalkan, Z.10
Kiraz, S.11
Kinikli, G.12
Besbas, N.13
Dinc, A.14
Ates, A.15
Olmez, U.16
Calguneri, M.17
Aydintug, O.T.18
Bakkaloglu, A.19
Turan, M.20
Turgay, M.21
Karaaslan, Y.22
Topaloglu, R.23
Duman, M.24
Ozen, S.25
more..
-
103
-
-
10744230484
-
International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: Second revision, Edmonton, 2001
-
Petty RE, Southwood TR, Manners P, Baum J, Glass DN, Goldenberg J, He X, Maldonado-Cocco J, Orozco-Alcala J, Prieur AM, Suarez-Almazor ME, Woo P (2004) International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 31:390-392
-
(2004)
J Rheumatol
, vol.31
, pp. 390-392
-
-
Petty, R.E.1
Southwood, T.R.2
Manners, P.3
Baum, J.4
Glass, D.N.5
Goldenberg, J.6
He, X.7
Maldonado-Cocco, J.8
Orozco-Alcala, J.9
Prieur, A.M.10
Suarez-Almazor, M.E.11
Woo, P.12
-
104
-
-
0019425358
-
Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation
-
Prieur AM, Griscelli C (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. J Pediatr 99:79-83
-
(1981)
J Pediatr
, vol.99
, pp. 79-83
-
-
Prieur, A.M.1
Griscelli, C.2
-
105
-
-
0023894493
-
A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients
-
Prieur AM, Griscelli C, Lampert F, Truckenbrodt H, Guggenheim MA, Lovell DJ, Pelkonnen P, Chevrant-Breton J, Ansell BM (1987) A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl 66:57-68
-
(1987)
Scand J Rheumatol Suppl
, vol.66
, pp. 57-68
-
-
Prieur, A.M.1
Griscelli, C.2
Lampert, F.3
Truckenbrodt, H.4
Guggenheim, M.A.5
Lovell, D.J.6
Pelkonnen, P.7
Chevrant-Breton, J.8
Ansell, B.M.9
-
106
-
-
34247569879
-
Functional consequences of NOD2/CARD15 mutations in Crohn disease
-
Quaglietta L, te Velde A, Staiano A, Troncone R, Hommes DW (2007) Functional consequences of NOD2/CARD15 mutations in Crohn disease. J Pediatr Gastroenterol Nutr 44:529-539
-
(2007)
J Pediatr Gastroenterol Nutr
, vol.44
, pp. 529-539
-
-
Quaglietta, L.1
Te Velde, A.2
Staiano, A.3
Troncone, R.4
Hommes, D.W.5
-
107
-
-
33845400564
-
Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease - Are we there yet?
-
Radford-Smith G, Pandeya N (2006) Associations between NOD2/CARD15 genotype and phenotype in Crohn's disease - Are we there yet? World J Gastroenterol 12:7097-7103
-
(2006)
World J Gastroenterol
, vol.12
, pp. 7097-7103
-
-
Radford-Smith, G.1
Pandeya, N.2
-
108
-
-
33747780470
-
Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
-
Ravet N, Rouaghe S, Dode C, Bienvenu J, Stirnemann J, Levy P, Delpech M, Grateau G (2006) Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 65:1158-1162
-
(2006)
Ann Rheum Dis
, vol.65
, 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
-
109
-
-
34248334168
-
Pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPA syndrome)
-
Renn CN, Helmer A, Megahed M (2007) [Pyogenic arthritis, pyoderma gangrenosum and acne syndrome (PAPA syndrome)]. Hautarzt 58:383-384
-
(2007)
Hautarzt
, vol.58
, pp. 383-384
-
-
Renn, C.N.1
Helmer, A.2
Megahed, M.3
-
110
-
-
33749187980
-
TNF-receptor-associated periodic syndrome (TRAPS): An autosomal dominant multisystem disorder
-
Rezaei N (2006) TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder. Clin Rheumatol 25:773-777
-
(2006)
Clin Rheumatol
, vol.25
, pp. 773-777
-
-
Rezaei, N.1
-
111
-
-
13444281923
-
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis
-
Rose CD, Doyle TM, McIlvain-Simpson G, Coffman JE, Rosenbaum JT, Davey MP, Martin TM (2005) Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 32:373-375
-
(2005)
J Rheumatol
, vol.32
, pp. 373-375
-
-
Rose, C.D.1
Doyle, T.M.2
McIlvain-Simpson, G.3
Coffman, J.E.4
Rosenbaum, J.T.5
Davey, M.P.6
Martin, T.M.7
-
112
-
-
33750345391
-
Pediatric granulomatous arthritis: An international registry
-
Rose CD, Wouters CH, Meiorin S, Doyle TM, Davey MP, Rosenbaum JT, Martin TM (2006) Pediatric granulomatous arthritis: an international registry. Arthritis Rheum 54:3337-3344
-
(2006)
Arthritis Rheum
, vol.54
, pp. 3337-3344
-
-
Rose, C.D.1
Wouters, C.H.2
Meiorin, S.3
Doyle, T.M.4
Davey, M.P.5
Rosenbaum, J.T.6
Martin, T.M.7
-
114
-
-
0030843586
-
Familial Mediterranean fever in children: Report of a large series and discussion of the risk and prognostic factors of amyloidosis
-
Saatci U, Ozen S, Ozdemir S, Bakkaloglu A, Besbas N, Topaloglu R, Arslan S (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 156:619-623
-
(1997)
Eur J Pediatr
, vol.156
, pp. 619-623
-
-
Saatci, U.1
Ozen, S.2
Ozdemir, S.3
Bakkaloglu, A.4
Besbas, N.5
Topaloglu, R.6
Arslan, S.7
-
115
-
-
33748522685
-
Etanercept in the treatment of arthritis in a patient with familial Mediterranean fever
-
Sakallioglu O, Duzova A, Ozen S (2006) Etanercept in the treatment of arthritis in a patient with familial Mediterranean fever. Clin Exp Rheumatol 24:435-437
-
(2006)
Clin Exp Rheumatol
, vol.24
, pp. 435-437
-
-
Sakallioglu, O.1
Duzova, A.2
Ozen, S.3
-
116
-
-
33947520943
-
Widespread granulomatous dermatitis of infancy: An early sign of Blau syndrome
-
Schaffer JV, Chandra P, Keegan BR, Heller P, Shin HT (2007) Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. Arch Dermatol 143:386-391
-
(2007)
Arch Dermatol
, vol.143
, pp. 386-391
-
-
Schaffer, J.V.1
Chandra, P.2
Keegan, B.R.3
Heller, P.4
Shin, H.T.5
-
117
-
-
0033227332
-
Chronic recurrent multifocal osteomyelitis in children
-
Schultz C, Holterhus PM, Seidel A, Jonas S, Barthel M, Kruse K, Bucsky P (1999) Chronic recurrent multifocal osteomyelitis in children. Pediatr Infect Dis J 18:1008-1013
-
(1999)
Pediatr Infect Dis J
, vol.18
, pp. 1008-1013
-
-
Schultz, C.1
Holterhus, P.M.2
Seidel, A.3
Jonas, S.4
Barthel, M.5
Kruse, K.6
Bucsky, P.7
-
119
-
-
0344823965
-
Pyrin binds the PST-PIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
-
Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL (2003) Pyrin binds the PST-PIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA 100:13501-13506
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 13501-13506
-
-
Shoham, N.G.1
Centola, M.2
Mansfield, E.3
Hull, K.M.4
Wood, G.5
Wise, C.A.6
Kastner, D.L.7
-
120
-
-
0002116633
-
Benign paroxysmal peritonitis
-
Siegal S (1945) Benign paroxysmal peritonitis. Ann Intern Med 23:1-21
-
(1945)
Ann Intern Med
, vol.23
, pp. 1-21
-
-
Siegal, S.1
-
121
-
-
3843110981
-
Beneficial response to interleukin 1 receptor antagonist in traps
-
Simon A, Bodar EJ, van der Hilst JC, van der Meer JW, Fiselier TJ, Cuppen M P, Drenth JP (2004) Beneficial response to interleukin 1 receptor antagonist in traps. Am J Med 117:208-210
-
(2004)
Am J Med
, vol.117
, pp. 208-210
-
-
Simon, A.1
Bodar, E.J.2
Van Der Hilst, J.C.3
Van Der Meer, J.W.4
Fiselier, T.J.5
Cuppen, M.P.6
Drenth, J.P.7
-
122
-
-
2042501706
-
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome
-
Simon A, Drewe E, van der Meer JW, Powell RJ, Kelley RI, Stalenhoef AF, Drenth JP (2004) Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Clin Pharmacol Ther 75:476-483
-
(2004)
Clin Pharmacol Ther
, vol.75
, pp. 476-483
-
-
Simon, A.1
Drewe, E.2
Van Der Meer, J.W.3
Powell, R.J.4
Kelley, R.I.5
Stalenhoef, A.F.6
Drenth, J.P.7
-
123
-
-
33644867557
-
Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes
-
Simon A, van der Meer JW, Vesely R, Myrdal U, Yoshimura K, Duys P, Drenth JP (2006) Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford) 45:269-273
-
(2006)
Rheumatology (Oxford)
, vol.45
, pp. 269-273
-
-
Simon, A.1
Van Der Meer, J.W.2
Vesely, R.3
Myrdal, U.4
Yoshimura, K.5
Duys, P.6
Drenth, J.P.7
-
124
-
-
19644375183
-
Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome
-
Stichweh DS, Punaro M, Pascual V (2005) Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatr Dermatol 22:262-265
-
(2005)
Pediatr Dermatol
, vol.22
, pp. 262-265
-
-
Stichweh, D.S.1
Punaro, M.2
Pascual, V.3
-
125
-
-
33747468990
-
Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response
-
Stojanov S, Hoffmann F, Kery A, Renner ED, Hartl D, Lohse P, Huss K, Fraunberger P, Malley JD, Zellerer S, Albert MH, Belohradsky BH (2006) Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw 17:90-97
-
(2006)
Eur Cytokine Netw
, vol.17
, pp. 90-97
-
-
Stojanov, S.1
Hoffmann, F.2
Kery, A.3
Renner, E.D.4
Hartl, D.5
Lohse, P.6
Huss, K.7
Fraunberger, P.8
Malley, J.D.9
Zellerer, S.10
Albert, M.H.11
Belohradsky, B.H.12
-
127
-
-
33749564027
-
PFAPA syndrome: New clinical aspects disclosed
-
Tasher D, Somekh E, Dalal I (2006) PFAPA syndrome: new clinical aspects disclosed. Arch Dis Child 91:981-984
-
(2006)
Arch Dis Child
, vol.91
, pp. 981-984
-
-
Tasher, D.1
Somekh, E.2
Dalal, I.3
-
128
-
-
0033497857
-
Periodic fever syndrome in children
-
Thomas KT, Feder HM, Jr., Lawton AR, Edwards KM (1999) Periodic fever syndrome in children. J Pediatr 135:15-21
-
(1999)
J Pediatr
, vol.135
, pp. 15-21
-
-
Thomas, K.T.1
Feder Jr., H.M.2
Lawton, A.R.3
Edwards, K.M.4
-
129
-
-
33344476398
-
CATERPILL-ERs, pyrin and hereditary immunological disorders
-
Ting JP, Kastner DL, Hoffman HM (2006) CATERPILL-ERs, pyrin and hereditary immunological disorders. Nat Rev Immunol 6:183-195
-
(2006)
Nat Rev Immunol
, vol.6
, pp. 183-195
-
-
Ting, J.P.1
Kastner, D.L.2
Hoffman, H.M.3
-
130
-
-
0034268002
-
MEFV mutations in Behcet's disease
-
Touitou I, Magne X, Molinari N, Navarro A, Quellec AL, Picco P, Seri M, Ozen S, Bakkaloglu A, Karaduman A, Garnier JM, Demaille J, Kone-Paut I (2000) MEFV mutations in Behcet's disease. Hum Mutat 16:271-272
-
(2000)
Hum Mutat
, vol.16
, pp. 271-272
-
-
Touitou, I.1
Magne, X.2
Molinari, N.3
Navarro, A.4
Quellec, A.L.5
Picco, P.6
Seri, M.7
Ozen, S.8
Bakkaloglu, A.9
Karaduman, A.10
Garnier, J.M.11
Demaille, J.12
Kone-Paut, I.13
-
131
-
-
34248571365
-
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
-
Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalcinkaya F, Ozen S, Majeed H, Ozdogan H, Kastner D, Booth D, Ben-Chetrit E, Pugnere D, Michelon C, Seguret F, Gershoni-Baruch R (2007) Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 56:1706-1712
-
(2007)
Arthritis Rheum
, vol.56
, pp. 1706-1712
-
-
Touitou, I.1
Sarkisian, T.2
Medlej-Hashim, M.3
Tunca, M.4
Livneh, A.5
Cattan, D.6
Yalcinkaya, F.7
Ozen, S.8
Majeed, H.9
Ozdogan, H.10
Kastner, D.11
Booth, D.12
Ben-Chetrit, E.13
Pugnere, D.14
Michelon, C.15
Seguret, F.16
Gershoni-Baruch, R.17
-
132
-
-
12344314454
-
Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study
-
Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Ozen S, Topaloglu R, Yilmaz E, Arici M, Bakkaloglu A, Besbas N, Akpolat T, Dinc A, Erken E (2005) Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 84:1-11
-
(2005)
Medicine (Baltimore)
, vol.84
, pp. 1-11
-
-
Tunca, M.1
Akar, S.2
Onen, F.3
Ozdogan, H.4
Kasapcopur, O.5
Yalcinkaya, F.6
Tutar, E.7
Ozen, S.8
Topaloglu, R.9
Yilmaz, E.10
Arici, M.11
Bakkaloglu, A.12
Besbas, N.13
Akpolat, T.14
Dinc, A.15
Erken, E.16
-
133
-
-
0344609221
-
Acute phase response and evolution of familial Mediterranean fever
-
Tunca M, Kirkali G, Soyturk M, Akar S, Pepys MB, Hawkins PN (1999) Acute phase response and evolution of familial Mediterranean fever. Lancet 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
-
134
-
-
0021287627
-
Hyperimmunoglobulinaemia D and periodic fever: A new syndrome
-
van der Meer JW, Vossen JM, Radl J, van Nieuwkoop JA, Meyer CJ, Lobatto S, van Furth R (1984) Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet 1:1087-1090
-
(1984)
Lancet
, vol.1
, pp. 1087-1090
-
-
Van Der Meer, J.W.1
Vossen, J.M.2
Radl, J.3
Van Nieuwkoop, J.A.4
Meyer, C.J.5
Lobatto, S.6
Van Furth, R.7
-
135
-
-
5044223401
-
Effective use of the recombinant interleukin 1 receptor antagonist anakinra in therapy resistant systemic onset juvenile rheumatoid arthritis
-
Verbsky JW, White AJ (2004) Effective use of the recombinant interleukin 1 receptor antagonist anakinra in therapy resistant systemic onset juvenile rheumatoid arthritis. J Rheumatol 31:2071-2075
-
(2004)
J Rheumatol
, vol.31
, pp. 2071-2075
-
-
Verbsky, J.W.1
White, A.J.2
-
136
-
-
0036846291
-
CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy
-
Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Blau E, Inohara N, Nunez G, Tromp G, Williams CJ (2002) CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. Arthritis Rheum 46:3041-3045
-
(2002)
Arthritis Rheum
, vol.46
, pp. 3041-3045
-
-
Wang, X.1
Kuivaniemi, H.2
Bonavita, G.3
Mutkus, L.4
Mau, U.5
Blau, E.6
Inohara, N.7
Nunez, G.8
Tromp, G.9
Williams, C.J.10
-
137
-
-
0020428767
-
Familial Hibernian fever
-
Williamson LM, Hull D, Mehta R, Reeves WG, Robinson BH, Toghill PJ (1982) Familial Hibernian fever. Q J Med 51:469-480
-
(1982)
Q J Med
, vol.51
, pp. 469-480
-
-
Williamson, L.M.1
Hull, D.2
Mehta, R.3
Reeves, W.G.4
Robinson, B.H.5
Toghill, P.J.6
-
138
-
-
0033695228
-
Localization of a gene for familial recurrent arthritis
-
Wise CA, Bennett LB, Pascual V, Gillum JD, Bowcock AM (2000) Localization of a gene for familial recurrent arthritis. Arthritis Rheum 43:2041-2045
-
(2000)
Arthritis Rheum
, vol.43
, pp. 2041-2045
-
-
Wise, C.A.1
Bennett, L.B.2
Pascual, V.3
Gillum, J.D.4
Bowcock, A.M.5
-
139
-
-
0037091012
-
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder
-
Wise CA, Gillum JD, Seidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 11:961-969
-
(2002)
Hum Mol Genet
, vol.11
, pp. 961-969
-
-
Wise, C.A.1
Gillum, J.D.2
Seidman, C.E.3
Lindor, N.M.4
Veile, R.5
Bashiardes, S.6
Lovett, M.7
-
140
-
-
0026522761
-
Preliminary criteria for classification of adult Still's disease
-
Yamaguchi M, Ohta A, Tsunematsu T, Kasukawa R, Mizushima Y, Kashiwagi H, Kashiwazaki S, Tanimoto K, Matsumoto Y, Ota T, et al. (1992) Preliminary criteria for classification of adult Still's disease. J Rheumatol 19:424-430
-
(1992)
J Rheumatol
, vol.19
, pp. 424-430
-
-
Yamaguchi, M.1
Ohta, A.2
Tsunematsu, T.3
Kasukawa, R.4
Mizushima, Y.5
Kashiwagi, H.6
Kashiwazaki, S.7
Tanimoto, K.8
Matsumoto, Y.9
Ota, T.10
-
141
-
-
0033912687
-
Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
-
Yeon HB, Lindor NM, Seidman JG, Seidman CE (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am J Hum Genet 66:1443-1448
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1443-1448
-
-
Yeon, H.B.1
Lindor, N.M.2
Seidman, J.G.3
Seidman, C.E.4
-
142
-
-
0242607919
-
Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients
-
Yilmaz E, Balci B, Kutlay S, Ozen S, Erturk S, Oner A, Besbas N, Bakkaloglu A (2003) Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. Turk J Pediatr 45:198-202
-
(2003)
Turk J Pediatr
, vol.45
, pp. 198-202
-
-
Yilmaz, E.1
Balci, B.2
Kutlay, S.3
Ozen, S.4
Erturk, S.5
Oner, A.6
Besbas, N.7
Bakkaloglu, A.8
-
143
-
-
30844432876
-
Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization
-
Yu JW, Wu J, Zhang Z, Datta P, Ibrahimi I, Taniguchi S, Sagara J, Fernandes-Alnemri T, Alnemri ES (2006) Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ 13:236-249
-
(2006)
Cell Death Differ
, vol.13
, pp. 236-249
-
-
Yu, J.W.1
Wu, J.2
Zhang, Z.3
Datta, P.4
Ibrahimi, I.5
Taniguchi, S.6
Sagara, J.7
Fernandes-Alnemri, T.8
Alnemri, E.S.9
-
144
-
-
0016223474
-
A controlled trial of colchicine in preventing attacks of familial mediterranean fever
-
Zemer D, Revach M, Pras M, Modan B, Schor S, Sohar E, Gafni J (1974) A controlled trial of colchicine in preventing attacks of familial mediterranean fever. N Engl J Med 291:932-934
-
(1974)
N Engl J Med
, vol.291
, pp. 932-934
-
-
Zemer, D.1
Revach, M.2
Pras, M.3
Modan, B.4
Schor, S.5
Sohar, E.6
Gafni, J.7
|