-
1
-
-
0026678490
-
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation
-
Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51: 1229-1239
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1229-1239
-
-
Allen, R.C.1
Zoghbi, H.Y.2
Moseley, A.B.3
Rosenblatt, H.M.4
Belmont, J.W.5
-
2
-
-
0027448696
-
Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells
-
Alterman LA, Alwis M de, Genet S, Loverrng R, Middleton-Price H, Morgan G, Jones A, Malcolm S, Levinsky RJ, Kinnon C (1993) Carrier determination for X-linked agammaglobulinemia using X inactivation analysis of purified B cells. J Immunol Methods 166:111-116
-
(1993)
J Immunol Methods
, vol.166
, pp. 111-116
-
-
Alterman, L.A.1
De Alwis, M.2
Genet, S.3
Loverrng, R.4
Middleton-Price, H.5
Morgan, G.6
Jones, A.7
Malcolm, S.8
Levinsky, R.J.9
Kinnon, C.10
-
3
-
-
0029102233
-
Screening for mutations causing X-linked severe combined immunodeficiency in the lL-2Rγ chain gene by single-strand conformation polymorphism analysis
-
Clark PA, Lester T, Genet S, Jones AM, Hendriks R, Levinsky RJ, Kinnon C (1995) Screening for mutations causing X-linked severe combined immunodeficiency in the lL-2Rγ chain gene by single-strand conformation polymorphism analysis. Hum Genet 96:427-432
-
(1995)
Hum Genet
, vol.96
, pp. 427-432
-
-
Clark, P.A.1
Lester, T.2
Genet, S.3
Jones, A.M.4
Hendriks, R.5
Levinsky, R.J.6
Kinnon, C.7
-
4
-
-
2242434790
-
Non-random X chromosome inactivation in B cells from carriers of X-linked severe combined immunodeficiency
-
Conley ME, Lavoie A, Briggs C, Brown P, Guerra C, Puck JM (1988) Non-random X chromosome inactivation in B cells from carriers of X-linked severe combined immunodeficiency. Proc Natl Acad Sci USA 85:3090-3094
-
(1988)
Proc Natl Acad Sci USA
, vol.85
, pp. 3090-3094
-
-
Conley, M.E.1
Lavoie, A.2
Briggs, C.3
Brown, P.4
Guerra, C.5
Puck, J.M.6
-
5
-
-
0025290819
-
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings
-
Conley ME, Buckley RH, Hong R, Guerra-Hanson C, Roifman CM, Brochstein JA, Pahwa S, Puck JM (1990) X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findings. J Clin Invest 85:1548-1554
-
(1990)
J Clin Invest
, vol.85
, pp. 1548-1554
-
-
Conley, M.E.1
Buckley, R.H.2
Hong, R.3
Guerra-Hanson, C.4
Roifman, C.M.5
Brochstein, J.A.6
Pahwa, S.7
Puck, J.M.8
-
6
-
-
0029075648
-
WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia
-
Derry JMJ, Kerns JA, Weinberg KI, Ochs HD, Volpini V, Estivill X, Walker AP, Francke U (1995) WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Hum Mol Genet 4:1127-1135
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1127-1135
-
-
Derry, J.M.J.1
Kerns, J.A.2
Weinberg, K.I.3
Ochs, H.D.4
Volpini, V.5
Estivill, X.6
Walker, A.P.7
Francke, U.8
-
7
-
-
0028087777
-
Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells
-
Di Santo JP, Rieux-Laucat F, Dautry-Varsat A, Fischer A, Saint Basile G de (1994) Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells. Proc Natl Acad Sci USA 91:9466-9470
-
(1994)
Proc Natl Acad Sci USA
, vol.91
, pp. 9466-9470
-
-
Di Santo, J.P.1
Rieux-Laucat, F.2
Dautry-Varsat, A.3
Fischer, A.4
De Saint Basile, G.5
-
8
-
-
0025752980
-
Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
-
Eiken HG, Odland E, Boman H, Skjelkvale L, Engebretson LF, Apold J (1991) Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19:1427-1430
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 1427-1430
-
-
Eiken, H.G.1
Odland, E.2
Boman, H.3
Skjelkvale, L.4
Engebretson, L.F.5
Apold, J.6
-
9
-
-
0025182977
-
European experience of bone marrow transplantation for severe combined immunodeficiency
-
Fischer A, Landais P, Friedrich W, Morgan G, Gerritsen B, Fasth A, Porta F, Griscelli C, Goldman SF, Levinsky R (1990) European experience of bone marrow transplantation for severe combined immunodeficiency. Lancet 336:850-854
-
(1990)
Lancet
, vol.336
, pp. 850-854
-
-
Fischer, A.1
Landais, P.2
Friedrich, W.3
Morgan, G.4
Gerritsen, B.5
Fasth, A.6
Porta, F.7
Griscelli, C.8
Goldman, S.F.9
Levinsky, R.10
-
10
-
-
0023857417
-
Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency
-
Goodship J, Malcolm S, Lau YL, Pembrey ME, Levinsky RJ (1988) Use of X chromosome inactivation analysis to establish carrier status for X-linked severe combined immunodeficiency. Lancet I:729-732
-
(1988)
Lancet
, vol.1
, pp. 729-732
-
-
Goodship, J.1
Malcolm, S.2
Lau, Y.L.3
Pembrey, M.E.4
Levinsky, R.J.5
-
11
-
-
0017810848
-
Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immuno-deficiency disease
-
Griscelli C, Durandy A, Virelizier JL, Ballet JJ, Daguillard F (1978) Selective defect of precursor T cells associated with apparently normal B lymphocytes in severe combined immuno-deficiency disease. J Pediatr 93:404-411
-
(1978)
J Pediatr
, vol.93
, pp. 404-411
-
-
Griscelli, C.1
Durandy, A.2
Virelizier, J.L.3
Ballet, J.J.4
Daguillard, F.5
-
12
-
-
0029842782
-
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper-IgM syndrome
-
Katz F, Hinshelwood S, Rutland P, Jones A, Kinnon C, Morgan G (1996) Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper-IgM syndrome. Hum Mutat 8:223-228
-
(1996)
Hum Mutat
, vol.8
, pp. 223-228
-
-
Katz, F.1
Hinshelwood, S.2
Rutland, P.3
Jones, A.4
Kinnon, C.5
Morgan, G.6
-
13
-
-
0029078212
-
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus
-
Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah A.-M, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA (1995) Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus. Hum Mol Genet 4: 1119-1126
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1119-1126
-
-
Kolluri, R.1
Shehabeldin, A.2
Peacocke, M.3
Lamhonwah, A.-M.4
Teichert-Kuliszewska, K.5
Weissman, S.M.6
Siminovitch, K.A.7
-
14
-
-
0027403374
-
Interleukin-2 receptor y chain mutation results in X-linked severe combined immunodeficiency in humans
-
Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ (1993) Interleukin-2 receptor y chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 73:147-157
-
(1993)
Cell
, vol.73
, pp. 147-157
-
-
Noguchi, M.1
Yi, H.2
Rosenblatt, H.M.3
Filipovich, A.H.4
Adelstein, S.5
Modi, W.S.6
McBride, O.W.7
Leonard, W.J.8
-
15
-
-
0028919560
-
Missense mutation in exon 7 of the common gamma chain causes a moderate form of X-linked severe combined immunodeficiency
-
Schmalstieg FC, Leonard WJ, Noguchi M, Berg M, Rudloff HE, Denney RM, Dave SK, Brooks EG, Goldman AS (1995) Missense mutation in exon 7 of the common gamma chain causes a moderate form of X-linked severe combined immunodeficiency. J Clin Invest 95:1169-1173
-
(1995)
J Clin Invest
, vol.95
, pp. 1169-1173
-
-
Schmalstieg, F.C.1
Leonard, W.J.2
Noguchi, M.3
Berg, M.4
Rudloff, H.E.5
Denney, R.M.6
Dave, S.K.7
Brooks, E.G.8
Goldman, A.S.9
-
16
-
-
0029074895
-
BTKbase: A database of XLA-causing mutations
-
Vihinen M, Cooper MD, Saint Basile G de, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan S-P, Litman GW, Notarangelo LD, Ochs HD, Rosen S, Vetrie D, Webster ADB, Zegers BJM, Smith CIE (1995) BTKbase: a 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
Kwan, S.-P.8
Litman, G.W.9
Notarangelo, L.D.10
Ochs, H.D.11
Rosen, S.12
Vetrie, D.13
Webster, A.D.B.14
Zegers, B.J.M.15
Smith, C.I.E.16
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