-
1
-
-
0000419304
-
Agammaglobulinemia
-
14929630 1:STN:280:DyaG38%2FlvFOnsg%3D%3D
-
Bruton OC. Agammaglobulinemia. Pediatrics 1952;9:722-728.
-
(1952)
Pediatrics
, vol.9
, pp. 722-728
-
-
Bruton, O.C.1
-
2
-
-
0034662198
-
Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway
-
10887125 1:CAS:528:DC%2BD3cXltVGhurY%3D
-
Nomura K, Kanegane H, Karasuyama H, Tsukada S, Agematsu K, Murakami G, et al. Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway. Blood 2000;96:610-617.
-
(2000)
Blood
, vol.96
, pp. 610-617
-
-
Nomura, K.1
Kanegane, H.2
Karasuyama, H.3
Tsukada, S.4
Agematsu, K.5
Murakami, G.6
-
3
-
-
0027441332
-
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
-
8380905 10.1038/361226a0 1:CAS:528:DyaK3sXitlajt7c%3D
-
Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 1993;361:226-233.
-
(1993)
Nature
, vol.361
, pp. 226-233
-
-
Vetrie, D.1
Vorechovský, I.2
Sideras, P.3
Holland, J.4
Davies, A.5
Flinter, F.6
-
4
-
-
77954732903
-
Gene diagnosis of X-linked agammaglobulinemia
-
16053733
-
Wang XC, Wang Y, Kanegane H, Toshio M, Yu YH. Gene diagnosis of X-linked agammaglobulinemia. Zhonghua Er Ke Za Zhi 2005;43:449-452.
-
(2005)
Zhonghua Er Ke Za Zhi
, vol.43
, pp. 449-452
-
-
Wang, X.C.1
Wang, Y.2
Kanegane, H.3
Toshio, M.4
Yu, Y.H.5
-
5
-
-
77249130675
-
Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia
-
19904586 10.1007/s10875-009-9341-5 1:CAS:528:DC%2BC3cXhvFagu7g%3D
-
Lee PP, Chen TX, Jiang LP, Chan KW, Yang W, Lee BW, et al. Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia. J Clin Immunol 2010;30:121-131.
-
(2010)
J Clin Immunol
, vol.30
, pp. 121-131
-
-
Lee, P.P.1
Chen, T.X.2
Jiang, L.P.3
Chan, K.W.4
Yang, W.5
Lee, B.W.6
-
6
-
-
67349160500
-
Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China
-
19039656 10.1007/s10875-008-9262-8
-
Wang Y, Kanegane H, Wang X, Han X, Zhang Q, Zhao S, et al. Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China. J Clin Immunol 2009;29:352-356.
-
(2009)
J Clin Immunol
, vol.29
, pp. 352-356
-
-
Wang, Y.1
Kanegane, H.2
Wang, X.3
Han, X.4
Zhang, Q.5
Zhao, S.6
-
7
-
-
0032806334
-
Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)
-
10600329 10.1006/clim.1999.4799 1:STN:280:DC%2BD3c%2FntFaitw%3D%3D
-
Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol 1999;93:190-197.
-
(1999)
Clin Immunol
, vol.93
, pp. 190-197
-
-
Conley, M.E.1
Notarangelo, L.D.2
Etzioni, A.3
-
8
-
-
0031006798
-
Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia
-
9192269 10.1136/jmg.34.6.484 1:CAS:528:DyaK2sXkslaktr0%3D
-
Brooimans RA, van den Berg AJ, Rijkers GT, Sanders LA, van Amstel JK, Tilanus MG, et al. Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. J Med Genet 1997;34:484-848.
-
(1997)
J Med Genet
, vol.34
, pp. 484-848
-
-
Brooimans, R.A.1
Van Den Berg, A.J.2
Rijkers, G.T.3
Sanders, L.A.4
Van Amstel, J.K.5
Tilanus, M.G.6
-
9
-
-
0028851066
-
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia
-
7711734 10.1093/hmg/4.1.51
-
Vorechovský I, Vihinen M, de Saint Basile G, Honsová S, Hammarström L, Müller S, et al. DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia. Hum Mol Genet 1995;4:51-58.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 51-58
-
-
Vorechovský, I.1
Vihinen, M.2
De Saint Basile, G.3
Honsová, S.4
Hammarström, L.5
Müller, S.6
-
11
-
-
0036796668
-
Clinical findings leading to the diagnosis of X-linked agammaglobulinemia
-
12378199 10.1067/mpd.2002.127711
-
Conley ME, Howard V. Clinical findings leading to the diagnosis of X-linked agammaglobulinemia. J Pediatr 2002;141:566-571.
-
(2002)
J Pediatr
, vol.141
, pp. 566-571
-
-
Conley, M.E.1
Howard, V.2
-
12
-
-
0035523171
-
The clinical spectrum of Bruton's agammaglobulinemia
-
11892085 10.1007/s11882-001-0065-8 1:STN:280:DC%2BD387mtV2isw%3D%3D
-
Stewart DM, Lian L, Nelson DL. The clinical spectrum of Bruton's agammaglobulinemia. Curr Allergy Asthma Rep 2001;1:558-565.
-
(2001)
Curr Allergy Asthma Rep
, vol.1
, pp. 558-565
-
-
Stewart, D.M.1
Lian, L.2
Nelson, D.L.3
-
13
-
-
77958103251
-
Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia
-
21039741 10.1111/j.1365-3083.2010.02457.x 1:CAS:528:DC%2BC3cXhsVagtLzF
-
Zhang ZY, Zhao XD, Jiang LP, Liu EM, Wang M, Yu J, et al. Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia. Scand J Immunol 2010;72:454-459.
-
(2010)
Scand J Immunol
, vol.72
, pp. 454-459
-
-
Zhang, Z.Y.1
Zhao, X.D.2
Jiang, L.P.3
Liu, E.M.4
Wang, M.5
Yu, J.6
-
14
-
-
0031980516
-
Mutations in btk in patients with presumed X-linked agammaglobulinemia
-
9545398 10.1086/301828 1:CAS:528:DyaK1cXlslCit7k%3D
-
Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J. Mutations in btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet 1998;62:1034-1043.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1034-1043
-
-
Conley, M.E.1
Mathias, D.2
Treadaway, J.3
Minegishi, Y.4
Rohrer, J.5
-
15
-
-
0022611188
-
X-linked immune deficiency (xid) of CBA/N mice
-
3486747 10.1007/978-3-642-70986-9-6 1:STN:280:DyaL283hvFertg%3D%3D
-
Wicker LS, Scher I. X-linked immune deficiency (xid) of CBA/N mice. Curr Top Microbiol Immunol 1986;124:87-101.
-
(1986)
Curr Top Microbiol Immunol
, vol.124
, pp. 87-101
-
-
Wicker, L.S.1
Scher, I.2
-
16
-
-
0028183398
-
Bruton's tyrosine kinase is a key regulator in B-cell development
-
8070812 10.1111/j.1600-065X.1994.tb00849.x 1:CAS:528:DyaK2cXkvVSnsbs%3D
-
Rawlings DJ, Witte ON. Bruton's tyrosine kinase is a key regulator in B-cell development. Immunol Rev 1994;138:105-119.
-
(1994)
Immunol Rev
, vol.138
, pp. 105-119
-
-
Rawlings, D.J.1
Witte, O.N.2
-
17
-
-
0028087195
-
X-linked agammaglobulinemia and other immunoglobulin deficiencies
-
8070814 10.1111/j.1600-065X.1994.tb00851.x 1:STN:280:DyaK2czltVelug%3D%3D
-
Smith CI, Islam KB, Vorechovský I, Olerup O, Wallin E, Rabbani H, et al. X-linked agammaglobulinemia and other immunoglobulin deficiencies. Immunol Rev 1994;138:159-183.
-
(1994)
Immunol Rev
, vol.138
, pp. 159-183
-
-
Smith, C.I.1
Islam, K.B.2
Vorechovský, I.3
Olerup, O.4
Wallin, E.5
Rabbani, H.6
-
18
-
-
0035216173
-
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis
-
11742281 10.1067/mai.2001.120133 1:CAS:528:DC%2BD38XltVOgtg%3D%3D
-
Kanegane H, Futatani T, Wang Y, Nomura K, Shinozaki K, Matsukura H, et al. Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. J Allergy Clin Immunol 2001;108:1012-1020.
-
(2001)
J Allergy Clin Immunol
, vol.108
, pp. 1012-1020
-
-
Kanegane, H.1
Futatani, T.2
Wang, Y.3
Nomura, K.4
Shinozaki, K.5
Matsukura, H.6
-
19
-
-
18544400057
-
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 uniquemutations without correlation to clinical course
-
9445504 10.1542/peds.101.2.276 1:STN:280:DyaK1c7hvVemtQ%3D%3D
-
Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Bäckesjö CM, et al. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 uniquemutations without correlation to clinical course. Pediatrics 1998;101:276-284.
-
(1998)
Pediatrics
, vol.101
, pp. 276-284
-
-
Holinski-Feder, E.1
Weiss, M.2
Brandau, O.3
Jedele, K.B.4
Nore, B.5
Bäckesjö, C.M.6
-
20
-
-
19944434293
-
Bruton's tyrosine kinase: Cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling
-
15661031 10.1111/j.0105-2896.2005.00225.x 1:CAS:528:DC%2BD2MXhvFynsL0%3D
-
Lindvall JM, Blomberg KE, Väliaho J, Vargas L, Heinonen JE, Berglöf A, et al. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol Rev 2005;203:200-215.
-
(2005)
Immunol Rev
, vol.203
, pp. 200-215
-
-
Lindvall, J.M.1
Blomberg, K.E.2
Väliaho, J.3
Vargas, L.4
Heinonen, J.E.5
Berglöf, A.6
|