-
1
-
-
0027771818
-
Genetic approaches to isolating the genes for X linked immunodeficiencies
-
Conley, M.E. (1993) Genetic approaches to isolating the genes for X linked immunodeficiencies. Immunodeficiency, 4, 203.
-
(1993)
Immunodeficiency
, vol.4
, pp. 203
-
-
Conley, M.E.1
-
2
-
-
0028137136
-
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase
-
Conley, M.E., Fitch-Hilgenberg, M.E., Cleveland, J.L., Parolini, O. Roher, J. (1994) Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. Human Molecular Genetics, 3, 1751.
-
(1994)
Human Molecular Genetics
, vol.3
, pp. 1751
-
-
Conley, M.E.1
Fitch-Hilgenberg, M.E.2
Cleveland, J.L.3
Parolini, O.4
Roher, J.5
-
3
-
-
0035353213
-
Identical mutations in RAG1 or RAG2 genes leading to defective v (D) J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome
-
Corneo, B., Moshous, D., Güngör, T., Wulffraat, N., Philippet, P., Le Deist, F.L. et al 2001) Identical mutations in RAG1 or RAG2 genes leading to defective V (D) J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Blood, 97, 2772.
-
(2001)
Blood
, vol.97
, pp. 2772
-
-
Corneo, B.1
Moshous, D.2
Güngör, T.3
Wulffraat, N.4
Philippet, P.5
Le Deist, F.L.6
Al, E.7
-
4
-
-
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., Hashimotos, S., Kumikata, T., Arai, S. et al 1998) 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, 91, 595.
-
(1998)
Blood
, vol.91
, pp. 595
-
-
Futatani, T.1
Miyawaki, T.2
Tsukada, S.3
Hashimotos, S.4
Kumikata, T.5
Arai, S.6
Al, E.7
-
5
-
-
18544400057
-
Mutation screening of the Btk gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
-
Holinski-Feder, E., Weiss, M., Brandau, O., Jedele, K.B., Nore, B., Bäckesjö, C.M. et al 1998) Mutation screening of the Btk gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics, 101, 276.
-
(1998)
Pediatrics
, vol.101
, pp. 276
-
-
Holinski-Feder, E.1
Weiss, M.2
Brandau, O.3
Jedele, K.B.4
Nore, B.5
Bäckesjö, C.M.6
Al, E.7
-
6
-
-
0027941428
-
Molecular genetic analysis of the primary immunodeficiency disorders
-
Nelson, D.L. Kurman, C.C. (1994) Molecular genetic analysis of the primary immunodeficiency disorders. Pediatric Clinics of North America, 41, 657.
-
(1994)
Pediatric Clinics of North America
, vol.41
, pp. 657
-
-
Nelson, D.L.1
Kurman, C.C.2
-
7
-
-
0142218924
-
Between acculturation and ambivalence: Knowledge of genetics and attitudes towards genetic testing in a consanguineous bedouin community
-
Raz, A.E., Atar, M., Rodnay, M., Shoham-Vardi, I. Carmi, R. (2003) Between acculturation and ambivalence: knowledge of genetics and attitudes towards genetic testing in a consanguineous bedouin community. Community Genetics, 6, 88.
-
(2003)
Community Genetics
, vol.6
, pp. 88
-
-
Raz, A.E.1
Atar, M.2
Rodnay, M.3
Shoham-Vardi, I.4
Carmi, R.5
-
8
-
-
0035064073
-
The bare lymphocyte syndrome and the regulation of MHC expression
-
Reith, W. Mach, B. (2001) The bare lymphocyte syndrome and the regulation of MHC expression. Annual Review of Immunology, 19, 331.
-
(2001)
Annual Review of Immunology
, vol.19
, pp. 331
-
-
Reith, W.1
MacH, B.2
-
9
-
-
0028060484
-
The genomic structure of human Btk, the defective gene in X-linked agammaglobulinemia
-
Rohrer, J., Parolini, O., Belmont, J.W., Conley, M.E. Parolino, O. (1994) The genomic structure of human Btk, the defective gene in X-linked agammaglobulinemia. Immunogenetics, 40, 319.
-
(1994)
Immunogenetics
, vol.40
, pp. 319
-
-
Rohrer, J.1
Parolini, O.2
Belmont, J.W.3
Conley, M.E.4
Parolino, O.5
-
10
-
-
33746286879
-
X-linked agammaglobulinemia: Report on a United States registry of 201 patients
-
Winkelstein, J.A., Marino, M.C., Lederman, H.M., Jones, S.M., Sullivan, K., Burks, A.W. et al 2006) X-linked agammaglobulinemia: report on a United States registry of 201 patients. Medicine (Baltimore), 85, 193.
-
(2006)
Medicine (Baltimore)
, vol.85
, pp. 193
-
-
Winkelstein, J.A.1
Marino, M.C.2
Lederman, H.M.3
Jones, S.M.4
Sullivan, K.5
Burks, A.W.6
Al, E.7
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