-
1
-
-
0016772968
-
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
-
Purtilo, D. T., Cassel, C. K., Yang, J. P. and Harper, R., X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1975. 1: 935-940.
-
(1975)
Lancet
, vol.1
, pp. 935-940
-
-
Purtilo, D.T.1
Cassel, C.K.2
Yang, J.P.3
Harper, R.4
-
2
-
-
0029161779
-
X-linked lymphoproliferative disease: Twenty-five years after the discovery
-
Seemayer, T. A., Gross, T. G., Egeler, R. M., Pirruccello, S. J., Davis, J. R., Kelly, C. M., Okano, M., Lanyi, A. and Sumegi, J., X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr. Res. 1995.38:471-478.
-
(1995)
Pediatr. Res.
, vol.38
, pp. 471-478
-
-
Seemayer, T.A.1
Gross, T.G.2
Egeler, R.M.3
Pirruccello, S.J.4
Davis, J.R.5
Kelly, C.M.6
Okano, M.7
Lanyi, A.8
Sumegi, J.9
-
3
-
-
0025860510
-
Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease
-
Grierson, H. L., Skare, J., Hawk, J., Pauza, M. and Purtilo, D. T., Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. Am. J. Med. Genet. 1991. 40: 294-297.
-
(1991)
Am. J. Med. Genet.
, vol.40
, pp. 294-297
-
-
Grierson, H.L.1
Skare, J.2
Hawk, J.3
Pauza, M.4
Purtilo, D.T.5
-
4
-
-
0032756539
-
Epstein-barr virus-negative boys with non-hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
-
Brandau, O., Schuster, V., Weiss, M., Hellebrand, H., Fink, F. M., Kreczy, A., Friedrich, W., Strahm, B., Niemeyer, C., Belohradsky, B. H. and Meindl, A., Epstein-barr virus-negative boys with non-hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP). Hum. Mol. Genet. 1999. 8: 2407-2413.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2407-2413
-
-
Brandau, O.1
Schuster, V.2
Weiss, M.3
Hellebrand, H.4
Fink, F.M.5
Kreczy, A.6
Friedrich, W.7
Strahm, B.8
Niemeyer, C.9
Belohradsky, B.H.10
Meindl, A.11
-
5
-
-
17344372694
-
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
-
Coffey, A. J., Brooksbank, R. A., Brandau, O., Oohashi, T., Howell, G. R., Bye, J. M., Cahn, A. P., Durham, J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M., Huckle, E., Shaw-Smith, C. J., Dunham, A., Rhodes, S., Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B., Zollo, M., Franco, B. and Bentley, D. R., Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat. Genet. 1998. 20:129-135.
-
(1998)
Nat. Genet.
, vol.20
, pp. 129-135
-
-
Coffey, A.J.1
Brooksbank, R.A.2
Brandau, O.3
Oohashi, T.4
Howell, G.R.5
Bye, J.M.6
Cahn, A.P.7
Durham, J.8
Heath, P.9
Wray, P.10
Pavitt, R.11
Wilkinson, J.12
Leversha, M.13
Huckle, E.14
Shaw-Smith, C.J.15
Dunham, A.16
Rhodes, S.17
Schuster, V.18
Porta, G.19
Yin, L.20
Serafini, P.21
Sylla, B.22
Zollo, M.23
Franco, B.24
Bentley, D.R.25
more..
-
6
-
-
13144278345
-
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
-
Nichols, K. E., Harkin, D. P., Levitz, S., Krainer, M., Kolquist, K. A., Genovese, C., Bernard, A., Ferguson, M., Zuo, L., Snyder, E., Buckler, A. J., Wise, C., Ashley, J., Lovett, M., Valentine, M. B., Look, A. T., Gerald, W., Housman, D. E. and Haber, D. A., Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc. Natl. Acad. Sci. USA 1998.95:13765-13770.
-
(1998)
Proc. Natl. Acad. Sci. USA
, vol.95
, pp. 13765-13770
-
-
Nichols, K.E.1
Harkin, D.P.2
Levitz, S.3
Krainer, M.4
Kolquist, K.A.5
Genovese, C.6
Bernard, A.7
Ferguson, M.8
Zuo, L.9
Snyder, E.10
Buckler, A.J.11
Wise, C.12
Ashley, J.13
Lovett, M.14
Valentine, M.B.15
Look, A.T.16
Gerald, W.17
Housman, D.E.18
Haber, D.A.19
-
7
-
-
0032190081
-
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
-
Sayos, J., Wu, C., Morra, M., Wang, N., Zhang, X., Allen, D., van Schaik, S., Notarangelo, L., Gêna, R., Roncarolo, M. G., Oettgen, H., De Vries, J. E., Aversa, G. and Terhorst, C., The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 1998. 395: 462-469.
-
(1998)
Nature
, vol.395
, pp. 462-469
-
-
Sayos, J.1
Wu, C.2
Morra, M.3
Wang, N.4
Zhang, X.5
Allen, D.6
Van Schaik, S.7
Notarangelo, L.8
Gêna, R.9
Roncarolo, M.G.10
Oettgen, H.11
De Vries, J.E.12
Aversa, G.13
Terhorst, C.14
-
8
-
-
0033564638
-
Cutting edge: Human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP
-
Tangye, S. G., Lazetic, S., Woollatt, E., Sutherland, G. R., Lanier, L. L. and Phillips, J. H., Cutting edge: human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. J. Immunol. 1999. 162: 6981-6985.
-
(1999)
J. Immunol.
, vol.162
, pp. 6981-6985
-
-
Tangye, S.G.1
Lazetic, S.2
Woollatt, E.3
Sutherland, G.R.4
Lanier, L.L.5
Phillips, J.H.6
-
9
-
-
0032757616
-
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients
-
Yin, L., Ferrand, V., Lavoue, M. F., Hayoz, D., Philippe, N., Souillet, G., Seri, M., Giacchino, R., Castagnola, E., Hodgson, S., Sylla, B. S. and Romeo, G., SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. Hum. Genet. 1999.105:501-505.
-
(1999)
Hum. Genet.
, vol.105
, pp. 501-505
-
-
Yin, L.1
Ferrand, V.2
Lavoue, M.F.3
Hayoz, D.4
Philippe, N.5
Souillet, G.6
Seri, M.7
Giacchino, R.8
Castagnola, E.9
Hodgson, S.10
Sylla, B.S.11
Romeo, G.12
-
10
-
-
0031911730
-
Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): The use of protein analysis as a diagnostic indicator of XLA
-
Caspar, H. B., Lester, T., Levinsky, R. J. and Kinnon, C., Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA. Clin. Exp. Immunol. 1998.111: 334-338.
-
(1998)
Clin. Exp. Immunol.
, vol.111
, pp. 334-338
-
-
Caspar, H.B.1
Lester, T.2
Levinsky, R.J.3
Kinnon, C.4
-
11
-
-
0031875585
-
Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients
-
MacCarthy-Morrogh, L., Caspar, H. B., Wang, Y. C., Katz, F., Thompson, L., Layton, M., Jones, A. M. and Kinnon, C., Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients. Clin. Immunol. Immunopathol. 1998. 88: 22-27.
-
(1998)
Clin. Immunol. Immunopathol.
, vol.88
, pp. 22-27
-
-
MacCarthy-Morrogh, L.1
Caspar, H.B.2
Wang, Y.C.3
Katz, F.4
Thompson, L.5
Layton, M.6
Jones, A.M.7
Kinnon, C.8
-
12
-
-
0029947122
-
Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): Report from the XLP registry
-
Gross, T. G., Filipovich, A. H., Conley, M. E., Pracher, E., Schmiegelow, K., Verdirame, J. D., Vowels, M., Williams, L. L. and Seemayer, T. A., Cure of X-linked lymphoproliferative disease (XLP) with allogeneic hematopoietic stem cell transplantation (HSCT): report from the XLP registry. Bone Marrow Transplant. 1996.17:741-744.
-
(1996)
Bone Marrow Transplant.
, vol.17
, pp. 741-744
-
-
Gross, T.G.1
Filipovich, A.H.2
Conley, M.E.3
Pracher, E.4
Schmiegelow, K.5
Verdirame, J.D.6
Vowels, M.7
Williams, L.L.8
Seemayer, T.A.9
-
13
-
-
0031692170
-
Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP)
-
Hoffmann, T., Heilmann, C., Madsen, H. O., Vindelov, L. and Schmiegelow, K., Matched unrelated allogeneic bone marrow transplantation for recurrent malignant lymphoma in a patient with X-linked lymphoproliferative disease (XLP). Bone Marrow Transplant. 1998. 22: 603-604.
-
(1998)
Bone Marrow Transplant.
, vol.22
, pp. 603-604
-
-
Hoffmann, T.1
Heilmann, C.2
Madsen, H.O.3
Vindelov, L.4
Schmiegelow, K.5
-
14
-
-
0024326431
-
Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome
-
Sylla, B. S., Wang, Q., Hayoz, D., Lathrop, G. M. and Lenoir, G. M., Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome. Clin. Genet. 1989. 36: 459-462.
-
(1989)
Clin. Genet.
, vol.36
, pp. 459-462
-
-
Sylla, B.S.1
Wang, Q.2
Hayoz, D.3
Lathrop, G.M.4
Lenoir, G.M.5
-
15
-
-
0027243211
-
Characterization of three overlapping deletions causing X-linked lymphoproliferative disease
-
Skare, J., Wu, B. L, Madan, S., Pulijaal, V., Purtilo, D., Haber, D., Nelson, D., Sylla, B., Grierson, H. and Nitowsky, H., Characterization of three overlapping deletions causing X-linked lymphoproliferative disease. Cenomics 1993.16: 254-255.
-
(1993)
Cenomics
, vol.16
, pp. 254-255
-
-
Skare, J.1
Wu2
Madan3
Pulijaal, V.4
Purtilo, D.5
Haber, D.6
Nelson, D.7
Sylla, B.8
Grierson, H.9
Nitowsky, H.10
-
16
-
-
19244372556
-
Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection
-
Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S., Kunikata, T., Arai, S., Kurimoto, M., Niida, Y., Matsuoka, H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O., Yoshizaki, K. and Kishimoto, T., Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by a flow cytometric analysis and its clinical application to carrier detection. Blood 1998. 91: 595-602.
-
(1998)
Blood
, vol.91
, pp. 595-602
-
-
Futatani, T.1
Miyawaki, T.2
Tsukada, S.3
Hashimoto, S.4
Kunikata, T.5
Arai, S.6
Kurimoto, M.7
Niida, Y.8
Matsuoka, H.9
Sakiyama, Y.10
Iwata, T.11
Tsuchiya, S.12
Tatsuzawa, O.13
Yoshizaki, K.14
Kishimoto, T.15
-
17
-
-
0032837376
-
Nonsense-mediated mRNA decay in health and disease
-
Frischmeyer, P. A. and Dietz, H. C., Nonsense-mediated mRNA decay in health and disease. Hum. Mol. Genet. 1999. 8: 1893-1900.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1893-1900
-
-
Frischmeyer, P.A.1
Dietz, H.C.2
-
18
-
-
0031822733
-
X linked lymphoproliferative disease in a United Kingdom family
-
Arkwright, P. D., Makin, G., Will, A. M., Ayres, M., Gokhaie, D. A., Fergusson, W. D. and Taylor, G. M., X linked lymphoproliferative disease in a United Kingdom family. Arch. Dis. Child 1998. 79: 52-55.
-
(1998)
Arch. Dis. Child
, vol.79
, pp. 52-55
-
-
Arkwright, P.D.1
Makin, G.2
Will, A.M.3
Ayres, M.4
Gokhaie, D.A.5
Fergusson, W.D.6
Taylor, G.M.7
-
19
-
-
0033485397
-
Molecular and functional characterization of mouse signaling lymphocytic activation molecule (SLAM): Differential expression and responsiveness in Th1 and Th2 cells
-
Castro, A. G., Hauser, T. M., Cocks, B. G., Abrams, J., Zurawski, S., Churakova, T., Zonin, F., Robinson, D., Tangye, S. G., Aversa, G., Nichols, K. E., De Vries, J. E., Lanier, L.L. and O'Garra, A., Molecular and functional characterization of mouse signaling lymphocytic activation molecule (SLAM): differential expression and responsiveness in Th1 and Th2 cells. J. Immunol. 1999.163:5860-5870.
-
(1999)
J. Immunol.
, vol.163
, pp. 5860-5870
-
-
Castro, A.G.1
Hauser, T.M.2
Cocks, B.G.3
Abrams, J.4
Zurawski, S.5
Churakova, T.6
Zonin, F.7
Robinson, D.8
Tangye, S.G.9
Aversa, G.10
Nichols, K.E.11
De Vries, J.E.12
Lanier, L.L.13
O'Garra, A.14
-
20
-
-
0004683115
-
PCR techniques for deletion, linkage and mutation analysis in Duchenne/Becker Muscular dystrophy. in Elles, R. (Ed.)
-
Mountford, R., PCR techniques for deletion, linkage and mutation analysis in Duchenne/Becker Muscular dystrophy. In Elles, R. (Ed.) Molecular Diagnosis of Genetic Disease. Humana Press, Totowa 1996, pp 17-36.
-
(1996)
Molecular Diagnosis of Genetic Disease. Humana Press, Totowa
, pp. 17-36
-
-
Mountford, R.1
|