-
1
-
-
0142209189
-
In vivo reversion to normal of inherited mutations in humans
-
Hirschhorn R. In vivo reversion to normal of inherited mutations in humans. J Med Genet. 2003;40: 721-728.
-
(2003)
J Med Genet
, vol.40
, pp. 721-728
-
-
Hirschhorn, R.1
-
2
-
-
0035902552
-
Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism
-
WadaT, Schurman SH, Otsu M et al. Somatic mosaicism in Wiskott-Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism. Proc Natl Acad Sci USA. 2001 ;98:8697-8702.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 8697-8702
-
-
Wada, T.1
Schurman, S.H.2
Otsu, M.3
-
3
-
-
0029902033
-
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
-
Hirschhorn R, Yang DR. Puck JM et al. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency. Nat Genet. 1996;13:290-295.
-
(1996)
Nat Genet
, vol.13
, pp. 290-295
-
-
Hirschhorn, R.1
Yang, D.R.2
Puck, J.M.3
-
4
-
-
10544244162
-
Atypical X- linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells
-
Stephan V, Wahn V, Le Deist F et al. Atypical X- linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells. N Engl J Med. 1996; 335:1563-1567.
-
(1996)
N Engl J Med
, vol.335
, pp. 1563-1567
-
-
Stephan, V.1
Wahn, V.2
Le Deist, F.3
-
5
-
-
24744460541
-
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency
-
WadaT, Toma T, Okamoto H et al. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. Blood. 2005;106:2099-2101.
-
(2005)
Blood
, vol.106
, pp. 2099-2101
-
-
Wada, T.1
Toma, T.2
Okamoto, H.3
-
6
-
-
33646378182
-
-
Rieux-Laucat F, Hivroz C, Lim Aet al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006;354:1913- 1921.
-
Rieux-Laucat F, Hivroz C, Lim Aet al. Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 2006;354:1913- 1921.
-
-
-
-
7
-
-
0035871629
-
Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome
-
ArigaT, Kondoh T, Yamaguchi K et al. Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndrome. J Immunol. 2001; 166:5245-5249.
-
(2001)
J Immunol
, vol.166
, pp. 5245-5249
-
-
Ariga, T.1
Kondoh, T.2
Yamaguchi, K.3
-
8
-
-
0032528485
-
A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: An additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes
-
Ariga T, Yamada M, Sakiyama Y, Tatsuzawa O. A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: an additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes. Blood. 1998;92:699-701.
-
(1998)
Blood
, vol.92
, pp. 699-701
-
-
Ariga, T.1
Yamada, M.2
Sakiyama, Y.3
Tatsuzawa, O.4
-
9
-
-
0038665327
-
Second- site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings
-
WadaT Konno A, Schurman SH et al. Second- site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings. J Clin Invest. 2003;111:1389-1397.
-
(2003)
J Clin Invest
, vol.111
, pp. 1389-1397
-
-
WadaT Konno, A.1
Schurman, S.H.2
-
10
-
-
33846852867
-
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1
-
Tone Y Wada T, Shibata F et al. Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. Blood. 2007;109:1182-1184.
-
(2007)
Blood
, vol.109
, pp. 1182-1184
-
-
Tone, Y.1
Wada, T.2
Shibata, F.3
-
11
-
-
2942717809
-
WASP (Wiskott- Aldrich syndrome protein) gene mutations and phenotype
-
Imai K, Nonoyama S, Ochs HD. WASP (Wiskott- Aldrich syndrome protein) gene mutations and phenotype. Curr Opin Allergy Clin Immunol. 2003; 3:427-436.
-
(2003)
Curr Opin Allergy Clin Immunol
, vol.3
, pp. 427-436
-
-
Imai, K.1
Nonoyama, S.2
Ochs, H.D.3
-
12
-
-
10244243692
-
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): Hot-spots, effect on transcription, and translation and phenotype/genotype correlation
-
Jin Y, Mazza C, Christie J Ft et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hot-spots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004; 104:4010-4019.
-
(2004)
Blood
, vol.104
, pp. 4010-4019
-
-
Jin, Y.1
Mazza, C.2
Christie, J.F.3
-
13
-
-
0030804315
-
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
-
Zhu Q, Watanabe C, Liu T et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997;90:2680-2689.
-
(1997)
Blood
, vol.90
, pp. 2680-2689
-
-
Zhu, Q.1
Watanabe, C.2
Liu, T.3
-
14
-
-
0021253159
-
Serum-free medium for generation and propagation of functional human cytotoxic and helper T cell clones
-
Yssel H, De Vries JE, Koken M, Van BW, Spits H. Serum-free medium for generation and propagation of functional human cytotoxic and helper T cell clones. J Immunol Methods. 1984;72:219- 227.
-
(1984)
J Immunol Methods
, vol.72
, pp. 219-227
-
-
Yssel, H.1
De Vries, J.E.2
Koken, M.3
Van, B.W.4
Spits, H.5
-
15
-
-
4444267906
-
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family
-
Wada T, Schurman SH, Jagadeesh GJ et al. Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family. Blood. 2004; 104:1270-1272.
-
(2004)
Blood
, vol.104
, pp. 1270-1272
-
-
Wada, T.1
Schurman, S.H.2
Jagadeesh, G.J.3
|