-
1
-
-
0000419304
-
Agammaglobulinemia
-
Bruton OC (1952) Agammaglobulinemia. Pediatrics 9:722-728
-
(1952)
Pediatrics
, vol.9
, pp. 722-728
-
-
Bruton, O.C.1
-
2
-
-
19144365482
-
Discordant phenotype in siblings with X-linked agammaglobulinemia
-
Bykowsky MJ, Haire RN, Ohta Y, Tang H, Sung SS, Veksler ES, Greene JM, et al (1996) Discordant phenotype in siblings with X-linked agammaglobulinemia. Am J Hum Genet 58:477-483
-
(1996)
Am J Hum Genet
, vol.58
, pp. 477-483
-
-
Bykowsky, M.J.1
Haire, R.N.2
Ohta, Y.3
Tang, H.4
Sung, S.S.5
Veksler, E.S.6
Greene, J.M.7
-
3
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
-
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
4
-
-
0022911035
-
Expression of the gene defect in X-linked agammaglobulinemia
-
Conley, ME, Brown P, Pickard AR, Buckley RH, Miller DS, Raskind WH, Singer JW, et al (1986) Expression of the gene defect in X-linked agammaglobulinemia. N Engl J Med 315: 564-567
-
(1986)
N Engl J Med
, vol.315
, pp. 564-567
-
-
Conley, M.E.1
Brown, P.2
Pickard, A.R.3
Buckley, R.H.4
Miller, D.S.5
Raskind, W.H.6
Singer, J.W.7
-
5
-
-
0028137136
-
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
-
Conley ME, Fitch-Hilgenberg ME, Cleveland JL, Parolini O, Rohrer J (1994) Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Hum Mol Genet 3:1751-1756
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1751-1756
-
-
Conley, M.E.1
Fitch-Hilgenberg, M.E.2
Cleveland, J.L.3
Parolini, O.4
Rohrer, J.5
-
7
-
-
0345638901
-
Antibody deficiencies reflect abnormal B cell differentiation
-
Cooper MD, Nishimoto N, Lassoued K, Nunez C, Nakamura T, Kubagawa H, Volanakis JE (1993) Antibody deficiencies reflect abnormal B cell differentiation. Prog Immunol 8: 535-543
-
(1993)
Prog Immunol
, vol.8
, pp. 535-543
-
-
Cooper, M.D.1
Nishimoto, N.2
Lassoued, K.3
Nunez, C.4
Nakamura, T.5
Kubagawa, H.6
Volanakis, J.E.7
-
8
-
-
0028063861
-
Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: Identification of a mutation which affects the same codon as is altered in immunodeficient xid mice
-
de Weers M, Mensink RGJ, Kraakman MEM, Schuurman RKB, Hendriks RW (1994) Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice. Hum Mol Genet 3:161-166
-
(1994)
Hum Mol Genet
, vol.3
, pp. 161-166
-
-
De Weers, M.1
Mensink, R.G.J.2
Kraakman, M.E.M.3
Schuurman, R.K.B.4
Hendriks, R.W.5
-
9
-
-
0027358430
-
The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages
-
de Weers M, Verschuren MCM, Kraakman MEM, Mensink RGJ, Schuurman RKB, van Dongen JJM, Hendriks RW (1993) The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages. Eur J Immunol 23:3109-3114
-
(1993)
Eur J Immunol
, vol.23
, pp. 3109-3114
-
-
De Weers, M.1
Verschuren, M.C.M.2
Kraakman, M.E.M.3
Mensink, R.G.J.4
Schuurman, R.K.B.5
Van Dongen, J.J.M.6
Hendriks, R.W.7
-
10
-
-
0028136599
-
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
-
Dietz HC, Kendzior RJ (1994) Maintenance of an open reading frame as an additional level of scrutiny during splice site selection. Nat Genet 8:183-188
-
(1994)
Nat Genet
, vol.8
, pp. 183-188
-
-
Dietz, H.C.1
Kendzior, R.J.2
-
11
-
-
0028306716
-
An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency
-
Duriez B, Duquesnoy P, Dastot F, Bougnères P, Amselem S, Goossens M (1994) An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. FEBS Lett 346:165-170
-
(1994)
FEBS Lett
, vol.346
, pp. 165-170
-
-
Duriez, B.1
Duquesnoy, P.2
Dastot, F.3
Bougnères, P.4
Amselem, S.5
Goossens, M.6
-
12
-
-
0023109203
-
Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation
-
Fearon ER, Winkelstein JA, Civin CI, Pardoll DM, Vogelstein B (1987) Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation. N Engl J Med 316:427-431
-
(1987)
N Engl J Med
, vol.316
, pp. 427-431
-
-
Fearon, E.R.1
Winkelstein, J.A.2
Civin, C.I.3
Pardoll, D.M.4
Vogelstein, B.5
-
13
-
-
0029816348
-
Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa
-
Gardella R, Belletti L, Zoppi N, Marini D, Barlati S, Colombi M (1996) Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the Localisata variant of recessive dystrophic epidermolysis bullosa. Am J Hum Genet 59:292-300
-
(1996)
Am J Hum Genet
, vol.59
, pp. 292-300
-
-
Gardella, R.1
Belletti, L.2
Zoppi, N.3
Marini, D.4
Barlati, S.5
Colombi, M.6
-
14
-
-
0027217937
-
Identification, cloning and characterization of a novel human T-cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q
-
Gibson S, Leung B, Squire JA, Hill M, Arima N, Goss P, Hogg D, et al (1993) Identification, cloning and characterization of a novel human T-cell-specific tyrosine kinase located at the hematopoietin complex on chromosome 5q. Blood 82: 1561-1572
-
(1993)
Blood
, vol.82
, pp. 1561-1572
-
-
Gibson, S.1
Leung, B.2
Squire, J.A.3
Hill, M.4
Arima, N.5
Goss, P.6
Hogg, D.7
-
15
-
-
0028997215
-
Characterization of germline mutations of the gene encoding Brutons tyrosine kinase in families with X-linked agammaglobulinemia
-
Hagemann TL, Rosen F, Kwan S-P (1995) Characterization of germline mutations of the gene encoding Brutons tyrosine kinase in families with X-linked agammaglobulinemia. Hum Mutat 5:296-302
-
(1995)
Hum Mutat
, vol.5
, pp. 296-302
-
-
Hagemann, T.L.1
Rosen, F.2
Kwan, S.-P.3
-
16
-
-
0028292588
-
TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12
-
Haire RN, Ohta Y, Lewis JE, Fu SM, Kroisel P, Litman GW (1994) TXK, a novel human tyrosine kinase expressed in T cells shares sequence identity with Tec family kinases and maps to 4p12. Hum Mol Genet 3:897-901
-
(1994)
Hum Mol Genet
, vol.3
, pp. 897-901
-
-
Haire, R.N.1
Ohta, Y.2
Lewis, J.E.3
Fu, S.M.4
Kroisel, P.5
Litman, G.W.6
-
17
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS (1935) The rate of spontaneous mutation of a human gene. J Genet 31:317-326
-
(1935)
J Genet
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
18
-
-
8944250665
-
Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: A nationwide study of Btk deficiency in Japan
-
Hashimoto S, Tsukada S, Matsushita M, Miyawaki T, Niida Y, Yachie A, Kobayashi S, et al (1996) Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. Blood 88:561-573
-
(1996)
Blood
, vol.88
, pp. 561-573
-
-
Hashimoto, S.1
Tsukada, S.2
Matsushita, M.3
Miyawaki, T.4
Niida, Y.5
Yachie, A.6
Kobayashi, S.7
-
19
-
-
0028949513
-
Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA)
-
Jin H, Webster ADB, Vihinen M, Sideras P, Vorechovsky I, Hammarström L, Bernatowska-Matuszkiewicz E, Smith CIE, et al (1995) Identification of Btk mutations in 20 unrelated patients with X-linked agammaglobulinaemia (XLA). Hum Mol Genet 4:693-700
-
(1995)
Hum Mol Genet
, vol.4
, pp. 693-700
-
-
Jin, H.1
Webster, A.D.B.2
Vihinen, M.3
Sideras, P.4
Vorechovsky, I.5
Hammarström, L.6
Bernatowska-Matuszkiewicz, E.7
Smith, C.I.E.8
-
20
-
-
0029985466
-
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan
-
Kobayashi S, Iwata T, Saito M, Iwasaki R, Matsumoto H, Naritaka S, Kono Y, et al (1996) Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan. Hum Genet 97:424-430
-
(1996)
Hum Genet
, vol.97
, pp. 424-430
-
-
Kobayashi, S.1
Iwata, T.2
Saito, M.3
Iwasaki, R.4
Matsumoto, H.5
Naritaka, S.6
Kono, Y.7
-
22
-
-
0029421466
-
A novel clonality assay based on transcriptional polymorphism of X chromosome gene p55
-
Luhovy M, Lui Y, Belickova M, Prchal JF, Prchal JT (1995) A novel clonality assay based on transcriptional polymorphism of X chromosome gene p55. Biol Blood Marrow Transplant 1:81-87
-
(1995)
Biol Blood Marrow Transplant
, vol.1
, pp. 81-87
-
-
Luhovy, M.1
Lui, Y.2
Belickova, M.3
Prchal, J.F.4
Prchal, J.T.5
-
23
-
-
0029835707
-
Defects in RNA splicing and the consequence of shortened translational reading frames
-
Maquat LE (1996) Defects in RNA splicing and the consequence of shortened translational reading frames. Am J Hum Genet 59:279-286
-
(1996)
Am J Hum Genet
, vol.59
, pp. 279-286
-
-
Maquat, L.E.1
-
24
-
-
0028346469
-
SH2 domain specificity and activity modified by a single residue
-
Marengere LEM, Songyang Z, Gish GD, Schaller MD, Parson JT, Stern MJ, Cantley LC, et al (1994) SH2 domain specificity and activity modified by a single residue. Nature 369: 502-505
-
(1994)
Nature
, vol.369
, pp. 502-505
-
-
Marengere, L.E.M.1
Songyang, Z.2
Gish, G.D.3
Schaller, M.D.4
Parson, J.T.5
Stern, M.J.6
Cantley, L.C.7
-
25
-
-
0025978384
-
Detection of three novel mutations in two haemophila A patients by rapid screening of whole essential region of factor VIII gene
-
Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F (1991) Detection of three novel mutations in two haemophila A patients by rapid screening of whole essential region of factor VIII gene. Lancet 337:635-639
-
(1991)
Lancet
, vol.337
, pp. 635-639
-
-
Naylor, J.A.1
Green, P.M.2
Montandon, A.J.3
Rizza, C.R.4
Giannelli, F.5
-
26
-
-
0028592706
-
Genomic organization and structure of the Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia
-
Ohta Y, Haire RN, Litman RT, Fu SM, Nelson RP, Kratz J, Kornfeld SJ, et al (1994) Genomic organization and structure of the Bruton agammaglobulinemia tyrosine kinase: Localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. Proc Natl Acad Sci USA 91:9062-9066
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 9062-9066
-
-
Ohta, Y.1
Haire, R.N.2
Litman, R.T.3
Fu, S.M.4
Nelson, R.P.5
Kratz, J.6
Kornfeld, S.J.7
-
27
-
-
0027454606
-
Transcriptional analysis of the active X-chromosome in normal and clonal hemopoiesis
-
Prchal JT, Prchal JF, Barany F, Guan YL (1993) Transcriptional analysis of the active X-chromosome in normal and clonal hemopoiesis. Blood 81:269-271
-
(1993)
Blood
, vol.81
, pp. 269-271
-
-
Prchal, J.T.1
Prchal, J.F.2
Barany, F.3
Guan, Y.L.4
-
28
-
-
0030021624
-
Clonal stability of blood cell lineages indicated by X-chromosome transcriptional polymorphism
-
Prchal JT, Prchal JF, Belickova M, Chen S, Guan Y, Gartland GL, Cooper MD (1996) Clonal stability of blood cell lineages indicated by X-chromosome transcriptional polymorphism. J Exp Med 183:561-567
-
(1996)
J Exp Med
, vol.183
, pp. 561-567
-
-
Prchal, J.T.1
Prchal, J.F.2
Belickova, M.3
Chen, S.4
Guan, Y.5
Gartland, G.L.6
Cooper, M.D.7
-
30
-
-
0027305921
-
Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice
-
Rawlings DJ, Saffran DC, Tsukada S, Largaespada DA, Grimaldi JC, Cohen L, Mohr RN, et al (1993) Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice. Science 261:358-361
-
(1993)
Science
, vol.261
, pp. 358-361
-
-
Rawlings, D.J.1
Saffran, D.C.2
Tsukada, S.3
Largaespada, D.A.4
Grimaldi, J.C.5
Cohen, L.6
Mohr, R.N.7
-
31
-
-
0029933504
-
Initial splice-site recognition and pairing during pre-mRNA splicing
-
Reed R (1996) Initial splice-site recognition and pairing during pre-mRNA splicing. Curr Opin Genet Dev 6:215-220
-
(1996)
Curr Opin Genet Dev
, vol.6
, pp. 215-220
-
-
Reed, R.1
-
33
-
-
0027984503
-
Molecular cloning and analysis of the human Tec protein-tyrosine kinase
-
Sato K, Mano H, Ariyama T, Inazawa J, Yazaki Y, Hirai H (1994) Molecular cloning and analysis of the human Tec protein-tyrosine kinase. Leukemia 8:1663-1672
-
(1994)
Leukemia
, vol.8
, pp. 1663-1672
-
-
Sato, K.1
Mano, H.2
Ariyama, T.3
Inazawa, J.4
Yazaki, Y.5
Hirai, H.6
-
34
-
-
0028295482
-
Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells
-
Smith CIE, Baskin B, Humire-Greiff PX, Zhou J-n, Olsson Pg, Maniar HS, Kjellen P, et al (1994) Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells. J Immunol 152:557-565
-
(1994)
J Immunol
, vol.152
, pp. 557-565
-
-
Smith, C.I.E.1
Baskin, B.2
Humire-Greiff, P.X.3
Zhou, J.-N.4
Olsson, Pg.5
Maniar, H.S.6
Kjellen, P.7
-
35
-
-
0027944227
-
BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2
-
Tamagnone L, Lahtinen I, Mustonen T, Virtaneva K, Francis F, Muscatelli F, Alitalo R, et al (1994) BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2. Oncogene 9:3683-3688
-
(1994)
Oncogene
, vol.9
, pp. 3683-3688
-
-
Tamagnone, L.1
Lahtinen, I.2
Mustonen, T.3
Virtaneva, K.4
Francis, F.5
Muscatelli, F.6
Alitalo, R.7
-
36
-
-
0027261447
-
Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes
-
Thomas JD, Sideras P, Smith CIE, Vorechovsky I, Chapman V, Paul WE (1993) Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes. Science 261:355-358
-
(1993)
Science
, vol.261
, pp. 355-358
-
-
Thomas, J.D.1
Sideras, P.2
Smith, C.I.E.3
Vorechovsky, I.4
Chapman, V.5
Paul, W.E.6
-
37
-
-
0027399081
-
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
-
Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, et al (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 72:279-290
-
(1993)
Cell
, vol.72
, pp. 279-290
-
-
Tsukada, S.1
Saffran, D.C.2
Rawlings, D.J.3
Parolini, O.4
Allen, R.C.5
Klisak, I.6
Sparkes, R.S.7
-
38
-
-
0027441332
-
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
-
Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, et al (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361:226-233
-
(1993)
Nature
, vol.361
, pp. 226-233
-
-
Vetrie, D.1
Vorechovsky, I.2
Sideras, P.3
Holland, J.4
Davies, A.5
Flinter, F.6
Hammarström, L.7
-
39
-
-
0029074895
-
BTKbase: Database of XLA causing mutations
-
Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, et al (1995) BTKbase: database of XLA causing mutations. Immunol Today 16:460-465
-
(1995)
Immunol Today
, vol.16
, pp. 460-465
-
-
Vihinen, M.1
Cooper, M.D.2
De Saint Basile, G.3
Fischer, A.4
Good, R.A.5
Hendriks, R.W.6
Kinnon, C.7
-
40
-
-
3042861296
-
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
-
Vihinen M, Iwata T, Kinnon C, Kwan S-P, Ochs HD, Vorechovsky I, Smith CIE (1996) BTKbase, mutation database for X-linked agammaglobulinemia (XLA). Nucleic Acids Res 24:160-165
-
(1996)
Nucleic Acids Res
, vol.24
, pp. 160-165
-
-
Vihinen, M.1
Iwata, T.2
Kinnon, C.3
Kwan, S.-P.4
Ochs, H.D.5
Vorechovsky, I.6
Smith, C.I.E.7
-
41
-
-
84921016030
-
Molecular diagnosis of X-linked agammaglobulinemia
-
Vorechovsky I, Zhou J-n, Vetrie D, Bentley D, Bjorkander J, Hammarström L, Smith CIE (1993) Molecular diagnosis of X-linked agammaglobulinemia. Lancet 341:1153
-
(1993)
Lancet
, vol.341
, pp. 1153
-
-
Vorechovsky, I.1
Zhou, J.-N.2
Vetrie, D.3
Bentley, D.4
Bjorkander, J.5
Hammarström, L.6
Smith, C.I.E.7
-
42
-
-
0028261105
-
Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA)
-
Zhu BQ, Zhang M, Rawlings DJ, Vihinen M, Hagemann T, Saffran DC, Kwan S-P, et al (1994) Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA). J Exp Med 180:461-470
-
(1994)
J Exp Med
, vol.180
, pp. 461-470
-
-
Zhu, B.Q.1
Zhang, M.2
Rawlings, D.J.3
Vihinen, M.4
Hagemann, T.5
Saffran, D.C.6
Kwan, S.-P.7
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