-
2
-
-
0033515520
-
Germline mutations in the extracellular domains of the 55kDa TNF receptor (TNF-R1) define a family of dominantly inherited autoinflammatory syndromes
-
McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, et al. Germline mutations in the extracellular domains of the 55kDa TNF receptor (TNF-R1) 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
-
3
-
-
0037249569
-
INFEVERS: The Registry for FMF and hereditary inflammatory disorders mutations
-
Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I. INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 2003;31:282-5.
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 282-285
-
-
Sarrauste de Menthiere, C.1
Terriere, S.2
Pugnere, D.3
Ruiz, M.4
Demaille, J.5
Touitou, I.6
-
4
-
-
0036675112
-
The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
-
Dodé C, André M, Bienvenu T, Hausfater P, Pêcheux C, Bienvenu J, et al, and the 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
Hausfater, P.4
Pêcheux, C.5
Bienvenu, J.6
-
5
-
-
0035144572
-
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) in a Dutch family: Evidence for a TNFRSF1A mutation with reduced penetrance
-
Aganna E, Aksentijevich I, Hitman GA, Kastner DL, Hoepelman AIM, Poesma F, et al. Tumor necrosis factor receptor associated periodic syndrome (TRAPS) in a Dutch family: evidence for a TNFRSF1A mutation with reduced penetrance. Eur J Hum Genet 2001;9:63-6.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 63-66
-
-
Aganna, E.1
Aksentijevich, I.2
Hitman, G.A.3
Kastner, D.L.4
Hoepelman, A.I.M.5
Poesma, F.6
-
6
-
-
0036161835
-
An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome
-
Aganna E, Zeharia A, Hitman GA, Basel-Vanagaite L, Allotey RA, Booth DR, et al. An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 2002;46:245-9.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 245-249
-
-
Aganna, E.1
Zeharia, A.2
Hitman, G.A.3
Basel-Vanagaite, L.4
Allotey, R.A.5
Booth, D.R.6
-
7
-
-
0034926933
-
The TNF receptor-associated periodic syndrome (TRAPS): New mutations in TNFRSF1A, ancestral origins, genotype-pheno-type studies, and evidence for further genetic heterogeneity of periodic fevers
-
Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, et al. The TNF receptor-associated periodic syndrome (TRAPS): new mutations in TNFRSF1A, ancestral origins, genotype-pheno-type studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301-4.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 301-304
-
-
Aksentijevich, I.1
Galon, J.2
Soares, M.3
Mansfield, E.4
Hull, K.5
Oh, H.H.6
-
8
-
-
0034781418
-
Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients
-
Rosen-Wolff A, Kreth HW, Hofmann S, Hohne K, Heubner G, Mobius D, et al. Periodic fever (TRAPS) caused by mutations in the TNF alpha receptor 1 (TNFRSF1A) gene of three German patients. Eur J Haematol 2001;67:105-9.
-
(2001)
Eur J Haematol
, vol.67
, pp. 105-109
-
-
Rosen-Wolff, A.1
Kreth, H.W.2
Hofmann, S.3
Hohne, K.4
Heubner, G.5
Mobius, D.6
-
9
-
-
0035126509
-
Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene
-
Simon A, Dode C, van der Meer JWM, Drenth JPH. Familial periodic fever and amyloidosis due to a new mutation in the TNFRSF1A gene. Am J Med 2001;110:313-5.
-
(2001)
Am J Med
, vol.110
, pp. 313-315
-
-
Simon, A.1
Dode, C.2
Van der Meer, J.W.M.3
Drenth, J.P.H.4
-
10
-
-
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
-
Dodé C, Papo T, Fieschi C, Pêcheux C, Dion E, Picard F, 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.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 1535-1542
-
-
Dodé, C.1
Papo, T.2
Fieschi, C.3
Pêcheux, C.4
Dion, E.5
Picard, F.6
-
11
-
-
0035046357
-
Autosomal-dominant periodic fever with amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene
-
Jadoul M, Dode C, Cosyns JP, Abramowicz D, Georges B, Delpech M, et al. Autosomal-dominant periodic fever with amyloidosis: novel mutation in tumor necrosis factor receptor 1 gene. Kidney Int 2001;59:1677-82.
-
(2001)
Kidney Int
, vol.59
, pp. 1677-1682
-
-
Jadoul, M.1
Dode, C.2
Cosyns, J.P.3
Abramowicz, D.4
Georges, B.5
Delpech, M.6
-
12
-
-
0036225529
-
A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 (TNFRSF1A) in a Finnish family with autosomal-dominant recurrent fever
-
Nevala H, Karenko L, Stjernberg S, Raatikainen M, Suomalainen H, Lagerstedt A, et al. A novel mutation in the third extracellular domain of the tumor necrosis factor receptor 1 (TNFRSF1A) in a Finnish family with autosomal-dominant recurrent fever. Arthritis Rheum 2002;46:1061-6.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 1061-1066
-
-
Nevala, H.1
Karenko, L.2
Stjernberg, S.3
Raatikainen, M.4
Suomalainen, H.5
Lagerstedt, A.6
-
13
-
-
0036892403
-
Genetic clues to understanding periodic fevers and possible therapies
-
McDermott MF. Genetic clues to understanding periodic fevers and possible therapies. Trend Molec Med 2002;12:550-4.
-
(2002)
Trend Molec Med
, vol.12
, pp. 550-554
-
-
McDermott, M.F.1
-
14
-
-
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
-
-
-
15
-
-
16944365196
-
A candidate gene for familial Mediterranean fever
-
The French FHF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997;17:25-31.
-
(1997)
Nat Genet
, vol.17
, pp. 25-31
-
-
-
16
-
-
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. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet 2001;29:301-5.
-
(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
-
17
-
-
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, et al. 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 2002;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
-
18
-
-
18344385660
-
New mutations of C1AS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: A novel mutation underlies both syndromes
-
Dodé C, Le Du N, Cuisset L, Letourneur F, Berthelot J-M, Vaudour G, et al. New mutations of C1AS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet 2002;70:1498-506.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1498-1506
-
-
Dodé, C.1
Le Du, N.2
Cuisset, L.3
Letourneur, F.4
Berthelot, J.-M.5
Vaudour, G.6
-
19
-
-
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, et al. 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 2002;46:2445-52.
-
(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
-
20
-
-
0036444250
-
Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding, and response to TNF receptor blockade with etanercept
-
Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding, and response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484-8.
-
(2002)
Clin Exp Immunol
, vol.130
, pp. 484-488
-
-
Arkwright, P.D.1
McDermott, M.F.2
Houten, S.M.3
Frenkel, J.4
Waterham, H.R.5
Aganna, E.6
-
21
-
-
0036676852
-
Single-nucleotide polymorphisms in tumor necrosis factor receptor genes: Definition of novel haplotypes and racial/ethnic differences
-
Bridges SL Jr, Jenq G, Moran M, Kuffner T, Whitworth WC, McNicholl J. Single-nucleotide polymorphisms in tumor necrosis factor receptor genes: definition of novel haplotypes and racial/ethnic differences. Arthritis Rheum 2002;46:2045-50.
-
(2002)
Arthritis Rheum
, vol.46
, pp. 2045-2050
-
-
Bridges S.L., Jr.1
Jenq, G.2
Moran, M.3
Kuffner, T.4
Whitworth, W.C.5
McNicholl, J.6
-
22
-
-
0030826517
-
The clinical spectrum of familial Hibernian fever: A 14-year follow-up study of the index and extended family
-
McDermott EM, Smillie DM, Powell RJ. The clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index 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
-
23
-
-
0033696045
-
An autosomal dominant periodic fever associated with AA amyloidosis in a North Indian family maps to distal chromosome lq
-
McDermott MF, Aganna E, Hitman GA, Ogunkolade BW, Booth DR, Hawkins PN. An autosomal dominant periodic fever associated with AA amyloidosis in a North Indian family maps to distal chromosome lq. Arthritis Rheum 2000;43:2034-40.
-
(2000)
Arthritis Rheum
, vol.43
, pp. 2034-2040
-
-
McDermott, M.F.1
Aganna, E.2
Hitman, G.A.3
Ogunkolade, B.W.4
Booth, D.R.5
Hawkins, P.N.6
-
24
-
-
0033224447
-
A bi-allelic VNTR in the human TNFR2 (p75) gene promoter
-
Keen L, Wood N, Olomolaiye O, Bidwell J. A bi-allelic VNTR in the human TNFR2 (p75) gene promoter. Genes Immun 1999;1:164-5.
-
(1999)
Genes Immun
, vol.1
, pp. 164-165
-
-
Keen, L.1
Wood, N.2
Olomolaiye, O.3
Bidwell, J.4
-
25
-
-
0034069283
-
Identification of novel polymorphisms in the human TNFR1 gene: Distribution in acute leukemia patients and healthy individuals
-
Bazzoni F, Gatto L, Lenzi L, Vinante F, Pizzolo G, Zanolin E, et al. Identification of novel polymorphisms in the human TNFR1 gene: distribution in acute leukemia patients and healthy individuals. Immunogenetics 2000;51:159-63.
-
(2000)
Immunogenetics
, vol.51
, pp. 159-163
-
-
Bazzoni, F.1
Gatto, L.2
Lenzi, L.3
Vinante, F.4
Pizzolo, G.5
Zanolin, E.6
-
26
-
-
0031956789
-
An MspA1 I polymorphism in exon 1 of the human TNF receptor type I (p55) gene
-
Pitts SA, Olomolaiye OO, Elson CJ, Westacott CI, Bidwell JL. An MspA1 I polymorphism in exon 1 of the human TNF receptor type I (p55) gene. Eur J Immunogenet 1998;25:269-70.
-
(1998)
Eur J Immunogenet
, vol.25
, pp. 269-270
-
-
Pitts, S.A.1
Olomolaiye, O.O.2
Elson, C.J.3
Westacott, C.I.4
Bidwell, J.L.5
-
27
-
-
0032617767
-
A new method of measuring C-reactive protein, with a low limit of detection, suitable for risk assessment of coronary heart disease
-
Eda S, Kaufmann J, Molwitz M, Vorberg E. A new method of measuring C-reactive protein, with a low limit of detection, suitable for risk assessment of coronary heart disease. Scand J Clin Lab Invest Suppl 1999;230:32-5.
-
(1999)
Scand J Clin Lab Invest Suppl
, vol.230
, pp. 32-35
-
-
Eda, S.1
Kaufmann, J.2
Molwitz, M.3
Vorberg, E.4
-
28
-
-
0031754706
-
Analytical evaluation of particle-enhanced immunonephelometric assays for C-reactive protein, serum amyloid A and mannose-binding protein in human serum
-
Ledue TB, Weiner DL, Sipe JD, Poulin SE, Collins MF, Rifai N. Analytical evaluation of particle-enhanced immunonephelometric assays for C-reactive protein, serum amyloid A and mannose-binding protein in human serum. Ann Clin Biochem 1998;35:745-53.
-
(1998)
Ann Clin Biochem
, vol.35
, pp. 745-753
-
-
Ledue, T.B.1
Weiner, D.L.2
Sipe, J.D.3
Poulin, S.E.4
Collins, M.F.5
Rifai, N.6
-
29
-
-
0027211704
-
Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: Implications for TNF receptor activation
-
Banner DW, D'Arcy A, Janes W, Gentz R, Schoenfeld HJ, Broger C, et al. Crystal structure of the soluble human 55 kd TNF receptor-human TNF beta complex: implications for TNF receptor activation. Cell 1993;73:431-45.
-
(1993)
Cell
, vol.73
, pp. 431-445
-
-
Banner, D.W.1
D'Arcy, A.2
Janes, W.3
Gentz, R.4
Schoenfeld, H.J.5
Broger, C.6
-
30
-
-
0032964187
-
Activation of the cytokine network in familial Mediterranean fever
-
Gang N, Drenth JP, Langevitz P, Zemer D, Brezniak N, Pras M, et al. Activation of the cytokine network in familial Mediterranean fever. J Rheumatol 1999;26:890-7.
-
(1999)
J Rheumatol
, vol.26
, pp. 890-897
-
-
Gang, N.1
Drenth, J.P.2
Langevitz, P.3
Zemer, D.4
Brezniak, N.5
Pras, M.6
-
31
-
-
0035094379
-
Isolated recurrent pericarditis in a patient with familial Mediterranean fever
-
Tutar HE, Imamoglu A, Kendirli T, Akar E, Atalay S, Akar N. Isolated recurrent pericarditis in a patient with familial Mediterranean fever. Eur J Pediatr 2001;160:264-5.
-
(2001)
Eur J Pediatr
, vol.160
, pp. 264-265
-
-
Tutar, H.E.1
Imamoglu, A.2
Kendirli, T.3
Akar, E.4
Atalay, S.5
Akar, N.6
|