-
1
-
-
0022213722
-
Familial granulomatous arthritis, iritis and rash
-
Blau EB. Familial granulomatous arthritis, iritis and rash. J Pediatr 1985;107:689-93.
-
(1985)
J Pediatr
, vol.107
, pp. 689-693
-
-
Blau, E.B.1
-
2
-
-
0025031820
-
Autosomal dominant granulomatous arthritis, uveitis, skin rash and synovial cysts
-
Pastores GM, Michels VV, Stickler GB, Su WP, Nelson AM, Bovenmyer DA. Autosomal dominant granulomatous arthritis, uveitis, skin rash and synovial cysts. J Pediatr 1990;117:403-8.
-
(1990)
J Pediatr
, vol.117
, pp. 403-408
-
-
Pastores, G.M.1
Michels, V.V.2
Stickler, G.B.3
Su, W.P.4
Nelson, A.M.5
Bovenmyer, D.A.6
-
3
-
-
0032546250
-
Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature
-
Manouvrier-Hanu S, Puech B, Piette F, Boute-Benejean O, Desbonnet A, Duquesnoy B, et al. Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. Am J Med Genet 1998;217-21.
-
(1998)
Am J Med Genet
, pp. 217-221
-
-
Manouvrier-Hanu, S.1
Puech, B.2
Piette, F.3
Boute-Benejean, O.4
Desbonnet, A.5
Duquesnoy, B.6
-
4
-
-
17944372335
-
CARD15 mutations in Blau syndrome
-
Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Hafner R, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;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
-
5
-
-
8144224682
-
CARD15 mutations in familial granulomatosis syndrome
-
Wang X, Kuivaniemi H, Bonavita G, Mutkus L, Mau U, Balu E, et al. CARD15 mutations in familial granulomatosis syndrome. Arthritis Rheum 2002;30:41-5.
-
(2002)
Arthritis Rheum
, vol.30
, pp. 41-45
-
-
Wang, X.1
Kuivaniemi, H.2
Bonavita, G.3
Mutkus, L.4
Mau, U.5
Balu, E.6
-
6
-
-
8144225877
-
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up
-
Priori R, Bombardieri M, Spinelli FR, Merlin F, Miceli-Richard C, La Cava M, et al. Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. Sarcoidosis Vasc Diffuse Lung Dis 2004;21:228-31.
-
(2004)
Sarcoidosis Vasc Diffuse Lung Dis
, vol.21
, pp. 228-231
-
-
Priori, R.1
Bombardieri, M.2
Spinelli, F.R.3
Merlin, F.4
Miceli-Richard, C.5
La Cava, M.6
-
7
-
-
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, et al. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol 2005;32:373-5.
-
(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
-
8
-
-
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, et al. Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood 2005;105:1195-7.
-
(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
-
9
-
-
20544459585
-
A new Card15 mutation in Blau syndrome
-
van Duist MM, Albrecht M, Podswiadek M, Giachino D, Lengauer T, Punzi L, et al. A new Card15 mutation in Blau syndrome. Eur J Hum Genet 2005;13:742-7.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 742-747
-
-
Van Duist, M.M.1
Albrecht, M.2
Podswiadek, M.3
Giachino, D.4
Lengauer, T.5
Punzi, L.6
-
10
-
-
33645850142
-
Blau syndrome and related genetic disorders causing childhood arthritis
-
Becker ML, Rose CD. Blau syndrome and related genetic disorders causing childhood arthritis. Curr Rheumatol Rep 2005;7:427-33.
-
(2005)
Curr Rheumatol Rep
, vol.7
, pp. 427-433
-
-
Becker, M.L.1
Rose, C.D.2
-
11
-
-
0036201577
-
CARD15/NOD2 mutational analysis and genotype phenotype correlation in 612 patients with inflammatory bowel disease
-
Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S, et al. CARD15/NOD2 mutational analysis and genotype phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845-57.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 845-857
-
-
Lesage, S.1
Zouali, H.2
Cezard, J.P.3
Colombel, J.F.4
Belaiche, J.5
Almer, S.6
-
12
-
-
0242467576
-
CARD15 gene mutations in sarcoidosis
-
Schurmann M, Valentonyte R, Hampe J, Muller-Quernheim J, Schwinger E, Schreiber S. CARD15 gene mutations in sarcoidosis. Eur J Resp Dis 2003;22:748-54.
-
(2003)
Eur J Resp Dis
, vol.22
, pp. 748-754
-
-
Schurmann, M.1
Valentonyte, R.2
Hampe, J.3
Muller-Quernheim, J.4
Schwinger, E.5
Schreiber, S.6
-
13
-
-
24144447328
-
Routine hospital use of a new commercial whole blood interferon-gamma assay for the diagnosis of tuberculosis infection
-
Ferrara G, Losi M, Meacci M, Meccugni B, Piro R, Roversi P, et al. Routine hospital use of a new commercial whole blood interferon-gamma assay for the diagnosis of tuberculosis infection. Am J Respir Crit Care Med 2005;172:519-21.
-
(2005)
Am J Respir Crit Care Med
, vol.172
, pp. 519-521
-
-
Ferrara, G.1
Losi, M.2
Meacci, M.3
Meccugni, B.4
Piro, R.5
Roversi, P.6
-
14
-
-
0037269059
-
High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: Validation of the method
-
Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA. High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method. Hum Mutat 2003;21:116-22.
-
(2003)
Hum Mutat
, vol.21
, pp. 116-122
-
-
Andersen, P.S.1
Jespersgaard, C.2
Vuust, J.3
Christiansen, M.4
Larsen, L.A.5
-
15
-
-
0032862746
-
The Blau syndrome gene is not a major risk factor for sarcoidosis
-
Rybicki BA, Maliarik MJ, Bock CH, Elston RC, Baughman RP, Kimani AP, et al. The Blau syndrome gene is not a major risk factor for sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis 1999;16:203-8.
-
(1999)
Sarcoidosis Vasc Diffuse Lung Dis
, vol.16
, pp. 203-208
-
-
Rybicki, B.A.1
Maliarik, M.J.2
Bock, C.H.3
Elston, R.C.4
Baughman, R.P.5
Kimani, A.P.6
-
16
-
-
1642537691
-
Childhood sarcoidosis in Denmark 1979-1994: Incidence, clinical features and laboratory results in 48 children
-
Hoffmann L, Milman N, Byg KE. Childhood sarcoidosis in Denmark 1979-1994: incidence, clinical features and laboratory results in 48 children. Acta Paediatr 2004;93:30-6.
-
(2004)
Acta Paediatr
, vol.93
, pp. 30-36
-
-
Hoffmann, L.1
Milman, N.2
Byg, K.E.3
-
17
-
-
14144252856
-
Blau syndrome presenting with ichthyosis
-
Masel G, Halbert A. Blau syndrome presenting with ichthyosis. Australas J Dermatol 2005;46:29-32.
-
(2005)
Australas J Dermatol
, vol.46
, pp. 29-32
-
-
Masel, G.1
Halbert, A.2
-
18
-
-
0031682554
-
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions
-
Ting SS, Ziegler J, Fischer E. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr 1998;133:450-2.
-
(1998)
J Pediatr
, vol.133
, pp. 450-452
-
-
Ting, S.S.1
Ziegler, J.2
Fischer, E.3
-
19
-
-
0020057862
-
Sarcoidosis in young children
-
Hetherington S. Sarcoidosis in young children. Am J Dis Child 1982;136:13-5.
-
(1982)
Am J Dis Child
, vol.136
, pp. 13-15
-
-
Hetherington, S.1
-
21
-
-
0035895992
-
Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB
-
Ogura Y, Inohara N, Benito A, Chen FF, Yamaoka S, Nunez G. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem 2001;276:4812-18.
-
(2001)
J Biol Chem
, vol.276
, pp. 4812-4818
-
-
Ogura, Y.1
Inohara, N.2
Benito, A.3
Chen, F.F.4
Yamaoka, S.5
Nunez, G.6
-
22
-
-
0037452968
-
Gene-environment interaction moduled by allelic heterogeneity in inflammatory diseases
-
Chamaillard M, Philpott S, Girardin SF, Zouali H, Lesage S, Chareyre F, et al. Gene-environment interaction moduled by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci USA 2003;100:3455-60.
-
(2003)
Proc Natl Acad Sci USA
, vol.100
, pp. 3455-3460
-
-
Chamaillard, M.1
Philpott, S.2
Girardin, S.F.3
Zouali, H.4
Lesage, S.5
Chareyre, F.6
-
23
-
-
0037244516
-
Treatment of sarcoidosis - From a basic science point of view
-
Moller DR. Treatment of sarcoidosis - from a basic science point of view. J Intern Med 2003;253:31-40.
-
(2003)
J Intern Med
, vol.253
, pp. 31-40
-
-
Moller, D.R.1
-
24
-
-
0037341640
-
Alveolar macrophages are the main source for tumour necrosis factor-α in patients with sarcoidosis
-
Fehrenbach H, Zissel G, Goldmann T, Tschernig T, Vollmer E, Pabst R, et al. Alveolar macrophages are the main source for tumour necrosis factor-α in patients with sarcoidosis. Eur Resp J 2003;21:421-8.
-
(2003)
Eur Resp J
, vol.21
, pp. 421-428
-
-
Fehrenbach, H.1
Zissel, G.2
Goldmann, T.3
Tschernig, T.4
Vollmer, E.5
Pabst, R.6
-
25
-
-
15844414943
-
Treatment of sarcoidosis with infliximab
-
Doty JD, Mazur JE, Judson MA. Treatment of sarcoidosis with infliximab. Chest 2005;127:1064-71.
-
(2005)
Chest
, vol.127
, pp. 1064-1071
-
-
Doty, J.D.1
Mazur, J.E.2
Judson, M.A.3
-
26
-
-
0030658821
-
Treatment of progressive pulmonary sarcoidosis with cyclosporin A: A randomized controlled trial
-
Wyser CP, van Schlakwyk EM, Alheit B, et al. Treatment of progressive pulmonary sarcoidosis with cyclosporin A: a randomized controlled trial. Am J Respir Crit Care Med 1997;156:1571-6.
-
(1997)
Am J Respir Crit Care Med
, vol.156
, pp. 1571-1576
-
-
Wyser, C.P.1
Van Schlakwyk, E.M.2
Alheit, B.3
|