-
1
-
-
0000399572
-
Congenital absence of the thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism
-
Good RA, Bergsma D, eds, Birth Defects Original Article Series. New York: New York National Foundation Press
-
DiGeorge A. Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism. In: Good RA, Bergsma D, eds. Immunologic deficiency diseases in man, Birth Defects Original Article Series. New York: New York National Foundation Press, 1968; 4:116-21.
-
(1968)
Immunologic Deficiency Diseases in Man
, vol.4
, pp. 116-121
-
-
DiGeorge, A.1
-
2
-
-
0025913982
-
The DiGeorge anomaly
-
Hong R. The DiGeorge anomaly. Immunodef Rev 1991; 3:1-14.
-
(1991)
Immunodef Rev
, vol.3
, pp. 1-14
-
-
Hong, R.1
-
3
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
-
Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992; 50:924-33.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 924-933
-
-
Driscoll, D.A.1
Budarf, M.L.2
Emanuel, B.S.3
-
4
-
-
0026688328
-
Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
-
Carey AH, Kelly D, Halford S et al. Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 1992; 51:964-70.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 964-970
-
-
Carey, A.H.1
Kelly, D.2
Halford, S.3
-
5
-
-
8044247810
-
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome
-
Pizzuti A, Novelli G, Ratti A et al. UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome. Hum Mol Genet 1997; 6:259-65.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 259-265
-
-
Pizzuti, A.1
Novelli, G.2
Ratti, A.3
-
6
-
-
0032498935
-
Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L)
-
Novelli G, Mari A, Amati F et al. Structure and expression of the human ubiquitin fusion-degradation gene (UFD1L). Biochim Biophys Acta 1998; 1396:158-62.
-
(1998)
Biochim Biophys Acta
, vol.1396
, pp. 158-162
-
-
Novelli, G.1
Mari, A.2
Amati, F.3
-
7
-
-
0033582626
-
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
-
Yamagishi H, Garg V, Matsuoka R, Thomas T, Srivastava D. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 1999; 283:1158-61.
-
(1999)
Science
, vol.283
, pp. 1158-1161
-
-
Yamagishi, H.1
Garg, V.2
Matsuoka, R.3
Thomas, T.4
Srivastava, D.5
-
8
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML et al. Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 1992; 44:261-8.
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
-
9
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
-
Driscoll AD, Salvin J, Sellinger B, Budarf ML, MacDonald-MacGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 1993; 30:813-7.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, A.D.1
Salvin, J.2
Sellinger, B.3
Budarf, M.L.4
MacDonald-MacGinn, D.M.5
Zackai, E.H.6
Emanuel, B.S.7
-
10
-
-
0027459424
-
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
-
Kelly D, Goldberg R, Wilson D et al. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet 1993; 45:308-12.
-
(1993)
Am J Med Genet
, vol.45
, pp. 308-312
-
-
Kelly, D.1
Goldberg, R.2
Wilson, D.3
-
11
-
-
0027400375
-
Velo-cardio-facial syndrome: A review of 120 patients
-
Goldberg R, Motzkin B, Marion R, Scamber P, Shprintzen R. Velo-cardio-facial syndrome: a review of 120 patients. Am J Med Genet 1993; 45:313-9.
-
(1993)
Am J Med Genet
, vol.45
, pp. 313-319
-
-
Goldberg, R.1
Motzkin, B.2
Marion, R.3
Scamber, P.4
Shprintzen, R.5
-
13
-
-
15844403609
-
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
-
Daw S, Taylor C, Kramam M et al. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nature Med 1996; 13:458-60.
-
(1996)
Nature Med
, vol.13
, pp. 458-460
-
-
Daw, S.1
Taylor, C.2
Kramam, M.3
-
14
-
-
0030199636
-
Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion
-
Pignata C, D'Agostino A, Finelli P et al. Progressive deficiencies in blood T cells associated with a 10p12-13 interstitial deletion. Clin Immunol Immunopathol 1996; 80:9-15.
-
(1996)
Clin Immunol Immunopathol
, vol.80
, pp. 9-15
-
-
Pignata, C.1
D'Agostino, A.2
Finelli, P.3
-
15
-
-
0024310736
-
The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder
-
Muller W, Peter H, Kallfelz H, Franz A, Rieger C. The DiGeorge sequence. II. Immunologic findings in partial and complete forms of the disorder. Eur J Pediatr 1989; 149:96-103.
-
(1989)
Eur J Pediatr
, vol.149
, pp. 96-103
-
-
Muller, W.1
Peter, H.2
Kallfelz, H.3
Franz, A.4
Rieger, C.5
-
16
-
-
0023902011
-
Spectrum of Di George syndrome in patients with truncus arteriosus: Expanded Di George syndrome
-
Radford DJ, Perkins L, Lachman R, Thong YH. Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome. Pediatr Cardiol 1988; 9:95-101.
-
(1988)
Pediatr Cardiol
, vol.9
, pp. 95-101
-
-
Radford, D.J.1
Perkins, L.2
Lachman, R.3
Thong, Y.H.4
-
17
-
-
0024954061
-
Flow cytometric analysis of lymphocyte subpopulations in infants with congenital heart disease
-
Slade HB, Greenwood JH, Beekman Rd McCoy JJ, Hudson JL, Pahwa S, Schwartz SA. Flow cytometric analysis of lymphocyte subpopulations in infants with congenital heart disease. J Clin Lab Anal 1989; 3:14-20.
-
(1989)
J Clin Lab Anal
, vol.3
, pp. 14-20
-
-
Slade, H.B.1
Greenwood, J.H.2
Beekman, Rd.3
McCoy, J.J.4
Hudson, J.L.5
Pahwa, S.6
Schwartz, S.A.7
-
18
-
-
0029151334
-
Humoral immunity in DiGeorge syndrome
-
Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr 1995; 127:231-7.
-
(1995)
J Pediatr
, vol.127
, pp. 231-237
-
-
Junker, A.K.1
Driscoll, D.A.2
-
19
-
-
0029926915
-
Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects
-
Rhoden DK, Leatherbury L, Helman S, Gaffney M, Strong WB, Guill MF. Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects. Pediatr Cardiol 1996; 17:143-9.
-
(1996)
Pediatr Cardiol
, vol.17
, pp. 143-149
-
-
Rhoden, D.K.1
Leatherbury, L.2
Helman, S.3
Gaffney, M.4
Strong, W.B.5
Guill, M.F.6
-
20
-
-
0031816589
-
Increased spontaneous apoptosis in T lymphocytes in DiGeorge anomaly
-
Gupta S, Aggarwal S, Nguyen T. Increased spontaneous apoptosis in T lymphocytes in DiGeorge anomaly. Clin Exp Immunol 1998; 113:65-71.
-
(1998)
Clin Exp Immunol
, vol.113
, pp. 65-71
-
-
Gupta, S.1
Aggarwal, S.2
Nguyen, T.3
-
21
-
-
0032959854
-
Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome
-
Collard HR, Boeck A, McLaughlin TM, Watson TJ, Schiff SE, Hale LP, Markert ML. Possible extrathymic development of nonfunctional T cells in a patient with complete DiGeorge syndrome. Clin Immunol 1999; 91:156-62.
-
(1999)
Clin Immunol
, vol.91
, pp. 156-162
-
-
Collard, H.R.1
Boeck, A.2
McLaughlin, T.M.3
Watson, T.J.4
Schiff, S.E.5
Hale, L.P.6
Markert, M.L.7
-
22
-
-
0023254139
-
T cell antigen receptor expression in athymic (nu/nu) mice
-
MacDonald HR, Lees RD, Bron C, Sordat B, Meiescher G. T cell antigen receptor expression in athymic (nu/nu) mice. J Exp Med 1987; 166:195-209.
-
(1987)
J Exp Med
, vol.166
, pp. 195-209
-
-
MacDonald, H.R.1
Lees, R.D.2
Bron, C.3
Sordat, B.4
Meiescher, G.5
-
23
-
-
0032007010
-
Lack of correlation between impaired T cell production, immunodeficiency and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome)
-
Sullivan KE, Jawad AF, Randall JP, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH. Lack of correlation between impaired T cell production, immunodeficiency and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol Immunopathol 1998; 86:141-6.
-
(1998)
Clin Immunol Immunopathol
, vol.86
, pp. 141-146
-
-
Sullivan, K.E.1
Jawad, A.F.2
Randall, J.P.3
Driscoll, D.A.4
Emanuel, B.S.5
McDonald-McGinn, D.M.6
Zackai, E.H.7
-
24
-
-
0029856924
-
Regulation of an extrathymic T-cell development pathway by oncostatin M
-
Clegg C, Rulffes J, Wallace P, Haugen H. Regulation of an extrathymic T-cell development pathway by oncostatin M. Nature 1996; 384:261-3.
-
(1996)
Nature
, vol.384
, pp. 261-263
-
-
Clegg, C.1
Rulffes, J.2
Wallace, P.3
Haugen, H.4
-
25
-
-
0031024070
-
Another way to generate T cells?
-
Metcalf D. Another way to generate T cells? Nature Med 1997; 3:18-19.
-
(1997)
Nature Med
, vol.3
, pp. 18-19
-
-
Metcalf, D.1
-
26
-
-
19144364568
-
Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome
-
Pizzuti A, Novelli G, Mari A et al. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet 1996; 58:722-9.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 722-729
-
-
Pizzuti, A.1
Novelli, G.2
Mari, A.3
-
27
-
-
0026695579
-
T cell heterogeneity in patients with common variable immunodeficiency as assessed by abnormalities of T cell subpopulations and T cell receptor gene analysis
-
Pandolfi F, Trentin L, San MI, Wong JT, Kurnick JT, Moscicki RA. T cell heterogeneity in patients with common variable immunodeficiency as assessed by abnormalities of T cell subpopulations and T cell receptor gene analysis. Clin Exp Immunol 1992; 89:198-203.
-
(1992)
Clin Exp Immunol
, vol.89
, pp. 198-203
-
-
Pandolfi, F.1
Trentin, L.2
San, M.I.3
Wong, J.T.4
Kurnick, J.T.5
Moscicki, R.A.6
-
28
-
-
0026578978
-
Lymphocyte populations as a function of age
-
Hannet I, Erkeller-Yuksel F, Lydyard P, Deneys V, De Bruyere M. Lymphocyte populations as a function of age. Immunol Today 1992; 13:215-8.
-
(1992)
Immunol Today
, vol.13
, pp. 215-218
-
-
Hannet, I.1
Erkeller-Yuksel, F.2
Lydyard, P.3
Deneys, V.4
De Bruyere, M.5
-
29
-
-
0027501992
-
Fibroblast-derived factors preserve viability in vitro of mononuclear cells isolated from subjects with HIV-1 infection
-
Pandolfi F, Oliva A, Sacco G et al. Fibroblast-derived factors preserve viability in vitro of mononuclear cells isolated from subjects with HIV-1 infection. AIDS 1993; 7:323-9.
-
(1993)
AIDS
, vol.7
, pp. 323-329
-
-
Pandolfi, F.1
Oliva, A.2
Sacco, G.3
-
30
-
-
0029097410
-
Apoptosis-related mortality in vitro of mononuclear cells from patients with HIV infection correlates with disease severity and progression
-
Pandolfi F, Pierdominici M, Oliva A et al. Apoptosis-related mortality in vitro of mononuclear cells from patients with HIV infection correlates with disease severity and progression. J AIDS 1995; 9:450-8.
-
(1995)
J AIDS
, vol.9
, pp. 450-458
-
-
Pandolfi, F.1
Pierdominici, M.2
Oliva, A.3
-
31
-
-
0025743130
-
Clonally expanded CD3+, CD4-, CD8- cells bearing the alpha/beta or the gamma/delta T-cell receptor in patients with the lymphoproliferative disease of granular lymphocytes
-
Pandolfi F, Foa R, De Rossi G et al. Clonally expanded CD3+, CD4-, CD8- cells bearing the alpha/beta or the gamma/delta T-cell receptor in patients with the lymphoproliferative disease of granular lymphocytes. Clin Immunol Immunopathol 1991; 60:371-83.
-
(1991)
Clin Immunol Immunopathol
, vol.60
, pp. 371-383
-
-
Pandolfi, F.1
Foa, R.2
De Rossi, G.3
-
32
-
-
0028930950
-
Tyrosine phosphorylation pathway is involved in interferon-gamma (IFN-γ) production; effect of sodium ortho vanadate
-
Giovannetti A, Aiuti A, Pizzoli P et al. Tyrosine phosphorylation pathway is involved in interferon-gamma (IFN-γ) production; effect of sodium ortho vanadate. Clin Exp Immunol 1995; 100:157-63.
-
(1995)
Clin Exp Immunol
, vol.100
, pp. 157-163
-
-
Giovannetti, A.1
Aiuti, A.2
Pizzoli, P.3
-
33
-
-
0024430847
-
Prediction of persistent immunodeficiency in the DiGeorge anomaly
-
Bastian J, Law S, Volger L et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. J Pediatr 1989; 115:391-6.
-
(1989)
J Pediatr
, vol.115
, pp. 391-396
-
-
Bastian, J.1
Law, S.2
Volger, L.3
-
34
-
-
0031918329
-
Complete DiGeorge syndrome: Persistence of profound immunodeficiency
-
Markert ML, Hummell DS, Rosenblatt HM et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 1998; 132:15-21.
-
(1998)
J Pediatr
, vol.132
, pp. 15-21
-
-
Markert, M.L.1
Hummell, D.S.2
Rosenblatt, H.M.3
-
35
-
-
0031568004
-
Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus
-
Markert ML, Kostyu DD, Ward FE et al. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. J Immunol 1997; 158:998-1005.
-
(1997)
J Immunol
, vol.158
, pp. 998-1005
-
-
Markert, M.L.1
Kostyu, D.D.2
Ward, F.E.3
-
36
-
-
0033554731
-
Transplantation of thymus tissue in complete DiGeorge syndrome
-
Markert ML, Boeck A, Hale LP et al. Transplantation of thymus tissue in complete DiGeorge syndrome. New Engl J Med 1999; 341:1180-9.
-
(1999)
New Engl J Med
, vol.341
, pp. 1180-1189
-
-
Markert, M.L.1
Boeck, A.2
Hale, L.P.3
-
37
-
-
0027251463
-
The sizes of the CDR3 hypervariable regions of the murine T cell receptor vary as a function of the recombined germ-line segments
-
Pannetier C, Cochet M, Darche S, Casrouge A, Zoller M, Kourilski P. The sizes of the CDR3 hypervariable regions of the murine T cell receptor vary as a function of the recombined germ-line segments. Proc Natl Acad Sci USA 1993; 90:4319-23.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 4319-4323
-
-
Pannetier, C.1
Cochet, M.2
Darche, S.3
Casrouge, A.4
Zoller, M.5
Kourilski, P.6
-
38
-
-
0029142996
-
Molecular analysis of T cell repertoires. Spectratypes generated by multiplex polymerase chain reaction and evaluated by radioactivity or fluorescence
-
Maslanka K, Piatek T, Gorski J, Yassai M, Gorski J. Molecular analysis of T cell repertoires. Spectratypes generated by multiplex polymerase chain reaction and evaluated by radioactivity or fluorescence. Hum Immunol 1995; 44:28-34.
-
(1995)
Hum Immunol
, vol.44
, pp. 28-34
-
-
Maslanka, K.1
Piatek, T.2
Gorski, J.3
Yassai, M.4
Gorski, J.5
-
39
-
-
0032520268
-
Oligoclonality of Vδ1 and Vδ2 cells in human peripheral blood mononuclear cells: TCR selection is not altered by stimulation with Gram-negative bacteria
-
Shen J, Andrews DM, Pandolfi F et al. Oligoclonality of Vδ1 and Vδ2 cells in human peripheral blood mononuclear cells: TCR selection is not altered by stimulation with Gram-negative bacteria. J Immunol 1998; 160:3048-55.
-
(1998)
J Immunol
, vol.160
, pp. 3048-3055
-
-
Shen, J.1
Andrews, D.M.2
Pandolfi, F.3
-
40
-
-
0028269242
-
Influence of coding region polymorphism on the peripheral expression of a human TCR V beta gene
-
Vissinga CS, Charmley P, Concannon P. Influence of coding region polymorphism on the peripheral expression of a human TCR V beta gene. J Immunol 1994; 152:1222-7.
-
(1994)
J Immunol
, vol.152
, pp. 1222-1227
-
-
Vissinga, C.S.1
Charmley, P.2
Concannon, P.3
-
41
-
-
0025190718
-
Allelic variations in the human T cell receptor V beta 6.7 gene products
-
Li Y, Szabo P, Robinson MA, Dong B, Posnett DN. Allelic variations in the human T cell receptor V beta 6.7 gene products. J Exp Med 1990; 171:221-30.
-
(1990)
J Exp Med
, vol.171
, pp. 221-230
-
-
Li, Y.1
Szabo, P.2
Robinson, M.A.3
Dong, B.4
Posnett, D.N.5
-
42
-
-
0028351920
-
Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence
-
Posnett DN, Vissinga CS, Pambuccian C et al. Level of human TCRBV3S1 (V beta 3) expression correlates with allelic polymorphism in the spacer region of the recombination signal sequence. J Exp Med 1994; 179:1707-11.
-
(1994)
J Exp Med
, vol.179
, pp. 1707-1711
-
-
Posnett, D.N.1
Vissinga, C.S.2
Pambuccian, C.3
-
43
-
-
0024468088
-
Calcium-dependent killing of immature thymocytes by stimulation via the CD3/T cell receptor complex
-
McConkey D, Hartzell P, Chow S, Orrenius S, Jondal M. Calcium-dependent killing of immature thymocytes by stimulation via the CD3/T cell receptor complex. J Immunol 1989; 143:1801-6.
-
(1989)
J Immunol
, vol.143
, pp. 1801-1806
-
-
McConkey, D.1
Hartzell, P.2
Chow, S.3
Orrenius, S.4
Jondal, M.5
-
44
-
-
0015383455
-
Apoptosis: A basic biological phenomenon with wide ranging implication in tissue kinetics
-
Kerr J, Wyllie A, Currie A. Apoptosis: a basic biological phenomenon with wide ranging implication in tissue kinetics. Br J Cancer 1972; 26:239-57.
-
(1972)
Br J Cancer
, vol.26
, pp. 239-257
-
-
Kerr, J.1
Wyllie, A.2
Currie, A.3
|