-
1
-
-
0031844288
-
The annual incidence of DiGeorge/velocardiofacial syndrome
-
Devriendt K, Fryns JP, Mortier G, Van Thienen MN, Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet. 1998;35:789-790.
-
(1998)
J Med Genet
, vol.35
, pp. 789-790
-
-
Devriendt, K.1
Fryns, J.P.2
Mortier, G.3
Van Thienen, M.N.4
Keymolen, K.5
-
2
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998;79:348-351.
-
(1998)
Arch Dis Child
, vol.79
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
LiLing, J.3
Wren, C.4
-
3
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
Botto LD, May K, Fernhoff PM, et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112:101-107.
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
-
4
-
-
22144493861
-
Defining the clinical spectrum of deletion 22q11.2
-
Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005;147:90-96.
-
(2005)
J Pediatr
, vol.147
, pp. 90-96
-
-
Robin, N.H.1
Shprintzen, R.J.2
-
5
-
-
9644274030
-
The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome
-
Sullivan KE. The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Curr Opin Allergy Clin Immunol. 2004;4:505-512.
-
(2004)
Curr Opin Allergy Clin Immunol
, vol.4
, pp. 505-512
-
-
Sullivan, K.E.1
-
6
-
-
0029151334
-
Humoral immunity in DiGeorge syndrome
-
Junker AK, Driscoll DA. Humoral immunity in DiGeorge syndrome. J Pediatr. 1995;127:231-237.
-
(1995)
J Pediatr
, vol.127
, pp. 231-237
-
-
Junker, A.K.1
Driscoll, D.A.2
-
7
-
-
0031833947
-
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome
-
Smith CA, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH, Sullivan KE. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome. Clin Diagn Lab Immunol. 1998;5:415-417.
-
(1998)
Clin Diagn Lab Immunol
, vol.5
, pp. 415-417
-
-
Smith, C.A.1
Driscoll, D.A.2
Emanuel, B.S.3
McDonald-McGinn, D.M.4
Zackai, E.H.5
Sullivan, K.E.6
-
8
-
-
0034033859
-
DiGeorge anomaly: A comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization
-
Kornfeld SJ, Zeffren B, Christodoulou CS, Day NK, Cawkwell G, Good RA. DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. J Allergy Clin Immunol. 2000;105:983-987.
-
(2000)
J Allergy Clin Immunol
, vol.105
, pp. 983-987
-
-
Kornfeld, S.J.1
Zeffren, B.2
Christodoulou, C.S.3
Day, N.K.4
Cawkwell, G.5
Good, R.A.6
-
9
-
-
0035196580
-
Immunologic features of chromosome 22q11.1 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Jawad AF, McDonald-McGinn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.1 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715-723.
-
(2001)
J Pediatr
, vol.139
, pp. 715-723
-
-
Jawad, A.F.1
McDonald-McGinn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
10
-
-
0037339072
-
Long-term assessment of T-cell populations in DiGeorge syndrome
-
Chinen J, Rosenblatt HM, O'Brian Smith E, Shearer WT, Noroski LM. Long-term assessment of T-cell populations in DiGeorge syndrome. J Allergy Clin Immunol. 2003;111:573-579.
-
(2003)
J Allergy Clin Immunol
, vol.111
, pp. 573-579
-
-
Chinen, J.1
Rosenblatt, H.M.2
O'Brian Smith, E.3
Shearer, W.T.4
Noroski, L.M.5
-
11
-
-
0026782016
-
Selective polysaccharide antibody deficiency in familial DiGeorge syndrome
-
Schubert MS, Moss RB. Selective polysaccharide antibody deficiency in familial DiGeorge syndrome. Ann Allergy. 1992;69:231-238.
-
(1992)
Ann Allergy
, vol.69
, pp. 231-238
-
-
Schubert, M.S.1
Moss, R.B.2
-
12
-
-
0036260179
-
Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
-
Gennery AR, Barge D, O'Sullivan JJ, Flood TJ, Abinun M, Cant AJ. Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome. Arch Dis Child. 2002;86:422-425.
-
(2002)
Arch Dis Child
, vol.86
, pp. 422-425
-
-
Gennery, A.R.1
Barge, D.2
O'Sullivan, J.J.3
Flood, T.J.4
Abinun, M.5
Cant, A.J.6
-
13
-
-
3142747489
-
22q11.2 deletion syndrome and selective IgM deficiency: An association of a common chromosomal abnormality with a rare immunodeficiency
-
Al-Herz W, McGeady SJ, Gripp KW. 22q11.2 deletion syndrome and selective IgM deficiency: an association of a common chromosomal abnormality with a rare immunodeficiency. Am J Med Genet. 2004;127:99-100.
-
(2004)
Am J Med Genet
, vol.127
, pp. 99-100
-
-
Al-Herz, W.1
McGeady, S.J.2
Gripp, K.W.3
-
14
-
-
33646739880
-
Antibody deficiencies
-
eds, 5th ed. Philadelphia, PA: Elsevier Saunders;
-
Ochs HD, Stiehm ER, Winkelstein JA. Antibody deficiencies. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic Disorders in Infants and Children. 5th ed. Philadelphia, PA: Elsevier Saunders; 2004:402.
-
(2004)
Immunologic Disorders in Infants and Children
, pp. 402
-
-
Ochs, H.D.1
Stiehm, E.R.2
Winkelstein, J.A.3
-
15
-
-
0024345492
-
IgM deficiency: Clinical spectrum and immunologic assessment
-
Guill MF, Brown DA, Ochs HD, Pyun KH, Moffitt JE. IgM deficiency: clinical spectrum and immunologic assessment. Ann Allergy. 1989;62:547-552.
-
(1989)
Ann Allergy
, vol.62
, pp. 547-552
-
-
Guill, M.F.1
Brown, D.A.2
Ochs, H.D.3
Pyun, K.H.4
Moffitt, J.E.5
-
16
-
-
0035711932
-
Functional defect of B lymphocytes in a patient with selective IgM deficiency associated with systemic lupus erythematosus
-
Takeuchi T, Nakagawa T, Maeda Y, et al. Functional defect of B lymphocytes in a patient with selective IgM deficiency associated with systemic lupus erythematosus. Autoimmunity. 2001;34:115-122.
-
(2001)
Autoimmunity
, vol.34
, pp. 115-122
-
-
Takeuchi, T.1
Nakagawa, T.2
Maeda, Y.3
-
18
-
-
0019982753
-
Functional assessment of T and B lymphocytes in patients with selective IgM deficiency
-
De La Concha EG, Garcia-Rodriguez MC, Zabay JM, et al. Functional assessment of T and B lymphocytes in patients with selective IgM deficiency. Clin Exp Immunol. 1982;49:670-676.
-
(1982)
Clin Exp Immunol
, vol.49
, pp. 670-676
-
-
De La Concha, E.G.1
Garcia-Rodriguez, M.C.2
Zabay, J.M.3
-
19
-
-
0026544716
-
Reduced secreted μ mRNA synthesis in selective IgM deficiency of Bloom's syndrome
-
Kondo K, Ozawa T, Kato Y, et al. Reduced secreted μ mRNA synthesis in selective IgM deficiency of Bloom's syndrome. Clin Exp Immunol. 1992;88:35-40.
-
(1992)
Clin Exp Immunol
, vol.88
, pp. 35-40
-
-
Kondo, K.1
Ozawa, T.2
Kato, Y.3
|