-
1
-
-
0031671548
-
Apopulation study of chromosome 22q11 deletions in infancy
-
Goodship J., Cross I., LiLing J., Wren C. Apopulation 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
-
2
-
-
0029783493
-
Prevalence of 22q11 microdeletion
-
Tezenas Du Montcel S., Mendizabai H., Ayme S., Levy A., Philip N. Prevalence of 22q11 microdeletion. JMed Genet 1996, 33:719.
-
(1996)
JMed Genet
, vol.33
, pp. 719
-
-
Tezenas Du Montcel, S.1
Mendizabai, H.2
Ayme, S.3
Levy, A.4
Philip, N.5
-
3
-
-
10744220154
-
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
-
Saitta S.C., Harris S.E., Gaeth A.P., Driscoll D.A., McDonald-McGinn D.M., Maisenbacher M.K., et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Human Mol Genet 2004, 13:417-428.
-
(2004)
Human Mol Genet
, vol.13
, pp. 417-428
-
-
Saitta, S.C.1
Harris, S.E.2
Gaeth, A.P.3
Driscoll, D.A.4
McDonald-McGinn, D.M.5
Maisenbacher, M.K.6
-
4
-
-
77649159729
-
Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples
-
Sorensen K.M., Agergaard P., Olesen C., Andersen P.S., Larsen L.A., Ostergaard J.R., et al. Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples. JMol Diagn 2010, 12:147-151.
-
(2010)
JMol Diagn
, vol.12
, pp. 147-151
-
-
Sorensen, K.M.1
Agergaard, P.2
Olesen, C.3
Andersen, P.S.4
Larsen, L.A.5
Ostergaard, J.R.6
-
5
-
-
17644421861
-
Presenting phenotype in 100 children with the 22q11 deletion syndrome
-
Oskarsdottir S., Persson C., Eriksson B.O., Fasth A. Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 2005, 164:146-153.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 146-153
-
-
Oskarsdottir, S.1
Persson, C.2
Eriksson, B.O.3
Fasth, A.4
-
6
-
-
0033033492
-
The Philadelphia story: the 22q11.2 deletion: report on 250 patients
-
McDonald-McGinn D.M., Kirschner R., Goldmuntz E., Sullivan K., Eicher P., Gerdes M., et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 1999, 10:11-24.
-
(1999)
Genet Couns
, vol.10
, pp. 11-24
-
-
McDonald-McGinn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
-
7
-
-
78651245300
-
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
McDonald-McGinn D.M., Sullivan K.E. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine (Baltimore) 2011, 90:1-18.
-
(2011)
Medicine (Baltimore)
, vol.90
, pp. 1-18
-
-
McDonald-McGinn, D.M.1
Sullivan, K.E.2
-
8
-
-
0043171041
-
Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome)
-
Ysunza A., Pamplona M.C., Ramirez E., Canun S., Sierra M.C., Silva-Rojas A. Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen syndrome). Int J Pediatr Otorhinolaryngol 2003, 67:911-915.
-
(2003)
Int J Pediatr Otorhinolaryngol
, vol.67
, pp. 911-915
-
-
Ysunza, A.1
Pamplona, M.C.2
Ramirez, E.3
Canun, S.4
Sierra, M.C.5
Silva-Rojas, A.6
-
9
-
-
1542723717
-
Surgical management of velopharyngeal incompetence in velocardiofacial syndrome
-
Mehendale F.V., Birch M.J., Birkett L., Sell D., Sommerlad B.C. Surgical management of velopharyngeal incompetence in velocardiofacial syndrome. Cleft Palate Craniofac J 2004, 41:124-135.
-
(2004)
Cleft Palate Craniofac J
, vol.41
, pp. 124-135
-
-
Mehendale, F.V.1
Birch, M.J.2
Birkett, L.3
Sell, D.4
Sommerlad, B.C.5
-
10
-
-
0033401203
-
Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome)
-
Digilio M.C., Pacifico C., Tieri L., Marino B., Giannotti A., Dallapiccola B. Audiological findings in patients with microdeletion 22q11 (di George/velocardiofacial syndrome). Br J Audiol 1999, 33:329-333.
-
(1999)
Br J Audiol
, vol.33
, pp. 329-333
-
-
Digilio, M.C.1
Pacifico, C.2
Tieri, L.3
Marino, B.4
Giannotti, A.5
Dallapiccola, B.6
-
11
-
-
71949088054
-
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2
-
Digilio M.C., McDonald-McGinn D.M., Heike C., Catania C., Dallapiccola B., Marino B., et al. Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A 2009, 149A:2860-2864.
-
(2009)
Am J Med Genet A
, vol.149 A
, pp. 2860-2864
-
-
Digilio, M.C.1
McDonald-McGinn, D.M.2
Heike, C.3
Catania, C.4
Dallapiccola, B.5
Marino, B.6
-
12
-
-
33748093284
-
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome
-
Rommel N., Vantrappen G., Swillen A., Devriendt K., Feenstra L., Fryns J.P. Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndrome. Genet Couns 1999, 10:71-78.
-
(1999)
Genet Couns
, vol.10
, pp. 71-78
-
-
Rommel, N.1
Vantrappen, G.2
Swillen, A.3
Devriendt, K.4
Feenstra, L.5
Fryns, J.P.6
-
13
-
-
79960444931
-
Practical guidelines for managing patients with 22q11.2 deletion syndrome
-
332-9.e1
-
Bassett A.S., McDonald-McGinn D.M., Devriendt K., Digilio M.C., Goldenberg P., Habel A., et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. JPediatr 2011, 159. 332-9.e1.
-
(2011)
JPediatr
, vol.159
-
-
Bassett, A.S.1
McDonald-McGinn, D.M.2
Devriendt, K.3
Digilio, M.C.4
Goldenberg, P.5
Habel, A.6
-
14
-
-
0032007010
-
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes
-
Sullivan K.E., Jawad A.F., Randall P., Driscoll D.A., Emanuel B.S., McDonald-McGinn D.M., et al. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes. Clin Immunol Immunopathol 1998, 86:141-146.
-
(1998)
Clin Immunol Immunopathol
, vol.86
, pp. 141-146
-
-
Sullivan, K.E.1
Jawad, A.F.2
Randall, P.3
Driscoll, D.A.4
Emanuel, B.S.5
McDonald-McGinn, D.M.6
-
15
-
-
0027413137
-
Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible
-
Bale P.M., Sotelo-Avila C. Maldescent of the thymus: 34 necropsy and 10 surgical cases, including 7 thymuses medial to the mandible. Pediatr Pathol 1993, 13:181-190.
-
(1993)
Pediatr Pathol
, vol.13
, pp. 181-190
-
-
Bale, P.M.1
Sotelo-Avila, C.2
-
16
-
-
0037339072
-
Long-term assessment of T-cell populations in DiGeorge syndrome
-
Chinen J., Rosenblatt H.M., Smith E.O., Shearer W.T., Noroski L.M. Long-term assessment of T-cell populations in DiGeorge syndrome. JAllergy Clin Immunol 2003, 111:573-579.
-
(2003)
JAllergy Clin Immunol
, vol.111
, pp. 573-579
-
-
Chinen, J.1
Rosenblatt, H.M.2
Smith, E.O.3
Shearer, W.T.4
Noroski, L.M.5
-
17
-
-
0035196580
-
Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Jawad A.F., McDonald-Mcginn D.M., Zackai E., Sullivan K.E. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). JPediatr 2001, 139:715-723.
-
(2001)
JPediatr
, vol.139
, pp. 715-723
-
-
Jawad, A.F.1
McDonald-Mcginn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
18
-
-
0029151334
-
Humoral immunity in DiGeorge syndrome
-
Junker A.K., Driscoll D.A. Humoral immunity in DiGeorge syndrome. JPediatr 1995, 127:231-237.
-
(1995)
JPediatr
, vol.127
, pp. 231-237
-
-
Junker, A.K.1
Driscoll, D.A.2
-
19
-
-
33645105072
-
Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome
-
Kanaya Y., Ohga S., Ikeda K., Furuno K., Ohno T., Takada H., et al. Maturational alterations of peripheral T cell subsets and cytokine gene expression in 22q11.2 deletion syndrome. Clin Exp Immunol 2006, 144:85-93.
-
(2006)
Clin Exp Immunol
, vol.144
, pp. 85-93
-
-
Kanaya, Y.1
Ohga, S.2
Ikeda, K.3
Furuno, K.4
Ohno, T.5
Takada, H.6
-
20
-
-
0034033859
-
DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization
-
Kornfeld S.J., Zeffren B., Christodoulou C.S., Day N.K., Cawkwell G., Good R.A. DiGeorge anomaly: a comparative study of the clinical and immunologic characteristics of patients positive and negative by fluorescence in situ hybridization. JAllergy Clin Immunol 2000, 105:983-987.
-
(2000)
JAllergy 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
-
21
-
-
20244377074
-
Early development of immunity in diGeorge syndrome
-
Sediva A., Bartunkova J., Zachova R., Polouckova A., Hrusak O., Janda A., et al. Early development of immunity in diGeorge syndrome. Med Sci Monit 2005, 11:CR182-CR187.
-
(2005)
Med Sci Monit
, vol.11
-
-
Sediva, A.1
Bartunkova, J.2
Zachova, R.3
Polouckova, A.4
Hrusak, O.5
Janda, A.6
-
22
-
-
0032749270
-
Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Sullivan K.E., McDonald-McGinn D., Driscoll D.A., Emanuel B.S., Zackai E.H., Jawad A.F. Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Diagn Lab Immunol 1999, 6:906-911.
-
(1999)
Clin Diagn Lab Immunol
, vol.6
, pp. 906-911
-
-
Sullivan, K.E.1
McDonald-McGinn, D.2
Driscoll, D.A.3
Emanuel, B.S.4
Zackai, E.H.5
Jawad, A.F.6
-
23
-
-
33745611372
-
Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome)
-
Finocchi A., Di Cesare S., Romiti M.L., Capponi C., Rossi P., Carsetti R., et al. Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatr Allergy Immunol 2006, 17:382-388.
-
(2006)
Pediatr Allergy Immunol
, vol.17
, pp. 382-388
-
-
Finocchi, A.1
Di Cesare, S.2
Romiti, M.L.3
Capponi, C.4
Rossi, P.5
Carsetti, R.6
-
24
-
-
33750529957
-
Thymic output markers indicate immune dysfunction in DiGeorge syndrome
-
Lavi R.F., Kamchaisatian W., Sleasman J.W., Martin D.P., Haraguchi S., Day N.K., et al. Thymic output markers indicate immune dysfunction in DiGeorge syndrome. JAllergy Clin Immunol 2006, 118:1184-1186.
-
(2006)
JAllergy Clin Immunol
, vol.118
, pp. 1184-1186
-
-
Lavi, R.F.1
Kamchaisatian, W.2
Sleasman, J.W.3
Martin, D.P.4
Haraguchi, S.5
Day, N.K.6
-
25
-
-
0038216872
-
Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Pierdominici M., Mazzetta F., Caprini E., Marziali M., Digilio M.C., Marino B., et al. Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Exp Immunol 2003, 132:323-331.
-
(2003)
Clin Exp Immunol
, vol.132
, pp. 323-331
-
-
Pierdominici, M.1
Mazzetta, F.2
Caprini, E.3
Marziali, M.4
Digilio, M.C.5
Marino, B.6
-
26
-
-
1642581677
-
T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome
-
Piliero L.M., Sanford A.N., McDonald-McGinn D.M., Zackai E.H., Sullivan K.E. T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome. Blood 2004, 103:1020-1025.
-
(2004)
Blood
, vol.103
, pp. 1020-1025
-
-
Piliero, L.M.1
Sanford, A.N.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
Sullivan, K.E.5
-
27
-
-
21244439896
-
Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome
-
Cancrini C., Romiti M.L., Finocchi A., Di Cesare S., Ciaffi P., Capponi C., et al. Post-natal ontogenesis of the T-cell receptor CD4 and CD8 Vbeta repertoire and immune function in children with DiGeorge syndrome. JClin Immunol 2005, 25:265-274.
-
(2005)
JClin Immunol
, vol.25
, pp. 265-274
-
-
Cancrini, C.1
Romiti, M.L.2
Finocchi, A.3
Di Cesare, S.4
Ciaffi, P.5
Capponi, C.6
-
28
-
-
0033919852
-
Tcell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome
-
Pierdominici M., Marziali M., Giovannetti A., Oliva A., Rosso R., Marino B., et al. Tcell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Clin Exp Immunol 2000, 121:127-132.
-
(2000)
Clin Exp Immunol
, vol.121
, pp. 127-132
-
-
Pierdominici, M.1
Marziali, M.2
Giovannetti, A.3
Oliva, A.4
Rosso, R.5
Marino, B.6
-
29
-
-
0024430847
-
Prediction of persistent immunodeficiency in the DiGeorge anomaly
-
Bastian J., Law S., Vogler L., Lawton A., Herrod H., Anderson S., et al. Prediction of persistent immunodeficiency in the DiGeorge anomaly. JPediatr 1989, 115:391-396.
-
(1989)
JPediatr
, vol.115
, pp. 391-396
-
-
Bastian, J.1
Law, S.2
Vogler, L.3
Lawton, A.4
Herrod, H.5
Anderson, S.6
-
30
-
-
0242550686
-
Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study
-
Shearer W.T., Rosenblatt H.M., Gelman R.S., Oyomopito R., Plaeger S., Stiehm E.R., et al. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. JAllergy Clin Immunol 2003, 112:973-980.
-
(2003)
JAllergy Clin Immunol
, vol.112
, pp. 973-980
-
-
Shearer, W.T.1
Rosenblatt, H.M.2
Gelman, R.S.3
Oyomopito, R.4
Plaeger, S.5
Stiehm, E.R.6
-
31
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study
-
Ryan A.K., Goodship J.A., Wilson D.I., Philip N., Levy A., Seidel H., et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. JMed Genet 1997, 34:798-804.
-
(1997)
JMed Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
-
32
-
-
77955272462
-
Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Zemble R., Luning Prak E., McDonald K., McDonald-McGinn D., Zackai E., Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Clin Immunol 2010, 136:409-418.
-
(2010)
Clin Immunol
, vol.136
, pp. 409-418
-
-
Zemble, R.1
Luning Prak, E.2
McDonald, K.3
McDonald-McGinn, D.4
Zackai, E.5
Sullivan, K.6
-
33
-
-
77957783161
-
Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome
-
Al-Sukaiti N., Reid B., Lavi S., Al-Zaharani D., Atkinson A., Roifman C.M., et al. Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome. JAllergy Clin Immunol 2010, 126:868-869.
-
(2010)
JAllergy Clin Immunol
, vol.126
, pp. 868-869
-
-
Al-Sukaiti, N.1
Reid, B.2
Lavi, S.3
Al-Zaharani, D.4
Atkinson, A.5
Roifman, C.M.6
-
34
-
-
13444310815
-
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)
-
Azzari C., Gambineri E., Resti M., Moriondo M., Betti L., Saldias L.R., et al. Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). Vaccine 2005, 23:1668-1671.
-
(2005)
Vaccine
, vol.23
, pp. 1668-1671
-
-
Azzari, C.1
Gambineri, E.2
Resti, M.3
Moriondo, M.4
Betti, L.5
Saldias, L.R.6
-
35
-
-
2942639783
-
Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity
-
Moylett E.H., Wasan A.N., Noroski L.M., Shearer W.T. Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity. Clin Immunol 2004, 112:106-112.
-
(2004)
Clin Immunol
, vol.112
, pp. 106-112
-
-
Moylett, E.H.1
Wasan, A.N.2
Noroski, L.M.3
Shearer, W.T.4
-
36
-
-
0141940745
-
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Perez E.E., Bokszczanin A., McDonald-McGinn D., Zackai E.H., Sullivan K.E. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics 2003, 112:e325.
-
(2003)
Pediatrics
, vol.112
-
-
Perez, E.E.1
Bokszczanin, A.2
McDonald-McGinn, D.3
Zackai, E.H.4
Sullivan, K.E.5
-
37
-
-
11144356685
-
Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases
-
Markert M.L., Alexieff M.J., Li J., Sarzotti M., Ozaki D.A., Devlin B.H., et al. Complete DiGeorge syndrome: development of rash, lymphadenopathy, and oligoclonal T cells in 5 cases. JAllergy Clin Immunol 2004, 113:734-741.
-
(2004)
JAllergy Clin Immunol
, vol.113
, pp. 734-741
-
-
Markert, M.L.1
Alexieff, M.J.2
Li, J.3
Sarzotti, M.4
Ozaki, D.A.5
Devlin, B.H.6
-
38
-
-
34248381768
-
Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants
-
Markert M.L., Devlin B.H., Alexieff M.J., Li J., McCarthy E.A., Gupton S.E., et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 2007, 109:4539-4547.
-
(2007)
Blood
, vol.109
, pp. 4539-4547
-
-
Markert, M.L.1
Devlin, B.H.2
Alexieff, M.J.3
Li, J.4
McCarthy, E.A.5
Gupton, S.E.6
-
39
-
-
34249885380
-
Live viral vaccines in a DiGeorge syndrome patient
-
Waters V., Peterson K.S., LaRussa P. Live viral vaccines in a DiGeorge syndrome patient. Arch Dis Child 2007, 92:519-520.
-
(2007)
Arch Dis Child
, vol.92
, pp. 519-520
-
-
Waters, V.1
Peterson, K.S.2
LaRussa, P.3
-
40
-
-
42049117507
-
Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome
-
Sullivan K.E. Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial syndrome. Immunol Allergy Clin North Am 2008, 28:353-366.
-
(2008)
Immunol Allergy Clin North Am
, vol.28
, pp. 353-366
-
-
Sullivan, K.E.1
-
41
-
-
40549137110
-
The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study
-
Selim M.A., Markert M.L., Burchette J.L., Herman C.M., Turner J.W. The cutaneous manifestations of atypical complete DiGeorge syndrome: a histopathologic and immunohistochemical study. JCutan Pathol 2008, 35:380-385.
-
(2008)
JCutan Pathol
, vol.35
, pp. 380-385
-
-
Selim, M.A.1
Markert, M.L.2
Burchette, J.L.3
Herman, C.M.4
Turner, J.W.5
-
42
-
-
84874040433
-
Clinical and immunophenotypic features of atypical complete DiGeorge syndrome
-
Vu Q.V., Wada T., Toma T., Tajima H., Maeda M., Tanaka R., et al. Clinical and immunophenotypic features of atypical complete DiGeorge syndrome. Pediatr Int 2013, 55:2-6.
-
(2013)
Pediatr Int
, vol.55
, pp. 2-6
-
-
Vu, Q.V.1
Wada, T.2
Toma, T.3
Tajima, H.4
Maeda, M.5
Tanaka, R.6
-
43
-
-
0037416830
-
Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis
-
Pirovano S., Mazzolari E., Pasic S., Albertini A., Notarangelo L.D., Imberti L. Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis. Immunol Lett 2003, 86:93-97.
-
(2003)
Immunol Lett
, vol.86
, pp. 93-97
-
-
Pirovano, S.1
Mazzolari, E.2
Pasic, S.3
Albertini, A.4
Notarangelo, L.D.5
Imberti, L.6
-
44
-
-
0036260179
-
Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
-
Gennery A.R., Barge D., O'Sullivan J.J., Flood T.J., Abinun M., Cant A.J. 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
-
45
-
-
84867857270
-
Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome
-
950-3.e1
-
Patel K., Akhter J., Kobrynski L., Gathman B., Davis O., Sullivan K.E. Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome. JPediatr 2012, 161. 950-3.e1.
-
(2012)
JPediatr
, vol.161
-
-
Patel, K.1
Akhter, J.2
Kobrynski, L.3
Gathman, B.4
Davis, O.5
Sullivan, K.E.6
-
46
-
-
84864117699
-
Antibody deficiency in adults with 22q11.2 deletion syndrome
-
Björk A.H., Óskarsdóttir S., Andersson B.A., Friman V. Antibody deficiency in adults with 22q11.2 deletion syndrome. Am J Med Genet A 2012, 158A:1934-1940.
-
(2012)
Am J Med Genet A
, vol.158 A
, pp. 1934-1940
-
-
Björk, A.H.1
Óskarsdóttir, S.2
Andersson, B.A.3
Friman, V.4
-
47
-
-
0036746210
-
DiGeorge sequence with hypogammaglobulinemia: a case report
-
Chien Y.H., Yang Y.H., Chu S.Y., Hwu W.L., Kuo P.L., Chiang B.L. DiGeorge sequence with hypogammaglobulinemia: a case report. JMicrobiol Immunol Infect 2002, 35:187-190.
-
(2002)
JMicrobiol Immunol Infect
, vol.35
, pp. 187-190
-
-
Chien, Y.H.1
Yang, Y.H.2
Chu, S.Y.3
Hwu, W.L.4
Kuo, P.L.5
Chiang, B.L.6
-
48
-
-
0031833947
-
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Smith C.A., Driscoll D.A., Emanuel B.S., McDonald-McGinn D.M., Zackai E.H., Sullivan K.E. Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial 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
-
49
-
-
48349130692
-
Immunologic defects in 22q11.2 deletion syndrome
-
367.e1-4
-
McLean-Tooke A., Barge D., Spickett G.P., Gennery A.R. Immunologic defects in 22q11.2 deletion syndrome. JAllergy Clin Immunol 2008, 122:362-367. 367.e1-4.
-
(2008)
JAllergy Clin Immunol
, vol.122
, pp. 362-367
-
-
McLean-Tooke, A.1
Barge, D.2
Spickett, G.P.3
Gennery, A.R.4
-
50
-
-
34948856997
-
Long-term results of bone marrow transplantation in complete DiGeorge syndrome
-
Land M.H., Garcia-Lloret M.I., Borzy M.S., Rao P.N., Aziz N., McGhee S.A., et al. Long-term results of bone marrow transplantation in complete DiGeorge syndrome. JAllergy Clin Immunol 2007, 120:908-915.
-
(2007)
JAllergy Clin Immunol
, vol.120
, pp. 908-915
-
-
Land, M.H.1
Garcia-Lloret, M.I.2
Borzy, M.S.3
Rao, P.N.4
Aziz, N.5
McGhee, S.A.6
-
51
-
-
77957714384
-
Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly
-
Janda A., Sedlacek P., Honig M., Friedrich W., Champagne M., Matsumoto T., et al. Multicenter survey on the outcome of transplantation of hematopoietic cells in patients with the complete form of DiGeorge anomaly. Blood 2010, 116:2229-2236.
-
(2010)
Blood
, vol.116
, pp. 2229-2236
-
-
Janda, A.1
Sedlacek, P.2
Honig, M.3
Friedrich, W.4
Champagne, M.5
Matsumoto, T.6
-
52
-
-
65449161797
-
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency
-
Neven B., Leroy S., Decaluwe H., Le Deist F., Picard C., Moshous D., et al. Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. Blood 2009, 113:4114-4124.
-
(2009)
Blood
, vol.113
, pp. 4114-4124
-
-
Neven, B.1
Leroy, S.2
Decaluwe, H.3
Le Deist, F.4
Picard, C.5
Moshous, D.6
-
53
-
-
77956395504
-
Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?
-
e1-11
-
Gennery A.R., Slatter M.A., Grandin L., Taupin P., Cant A.J., Veys P., et al. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better?. JAllergy Clin Immunol 2010, 126:602-610. e1-11.
-
(2010)
JAllergy Clin Immunol
, vol.126
, pp. 602-610
-
-
Gennery, A.R.1
Slatter, M.A.2
Grandin, L.3
Taupin, P.4
Cant, A.J.5
Veys, P.6
-
54
-
-
0031568004
-
Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus
-
Markert M.L., Kostyu D.D., Ward F.E., McLaughlin T.M., Watson T.J., Buckley R.H., et al. Successful formation of a chimeric human thymus allograft following transplantation of cultured postnatal human thymus. JImmunol 1997, 158:998-1005.
-
(1997)
JImmunol
, vol.158
, pp. 998-1005
-
-
Markert, M.L.1
Kostyu, D.D.2
Ward, F.E.3
McLaughlin, T.M.4
Watson, T.J.5
Buckley, R.H.6
-
55
-
-
0041743085
-
Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients
-
Markert M.L., Sarzotti M., Ozaki D.A., Sempowski G.D., Rhein M.E., Hale L.P., et al. Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients. Blood 2003, 102:1121-1130.
-
(2003)
Blood
, vol.102
, pp. 1121-1130
-
-
Markert, M.L.1
Sarzotti, M.2
Ozaki, D.A.3
Sempowski, G.D.4
Rhein, M.E.5
Hale, L.P.6
-
56
-
-
0030958230
-
Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome
-
Davis C.M., McLaughlin T.M., Watson T.J., Buckley R.H., Schiff S.E., Hale L.P., et al. Normalization of the peripheral blood T cell receptor V beta repertoire after cultured postnatal human thymic transplantation in DiGeorge syndrome. JClin Immunol 1997, 17:167-175.
-
(1997)
JClin Immunol
, vol.17
, pp. 167-175
-
-
Davis, C.M.1
McLaughlin, T.M.2
Watson, T.J.3
Buckley, R.H.4
Schiff, S.E.5
Hale, L.P.6
-
58
-
-
1942538141
-
Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome
-
Markert M.L., Alexieff M.J., Li J., Sarzotti M., Ozaki D.A., Devlin B.H., et al. Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome. Blood 2004, 104:2574-2581.
-
(2004)
Blood
, vol.104
, pp. 2574-2581
-
-
Markert, M.L.1
Alexieff, M.J.2
Li, J.3
Sarzotti, M.4
Ozaki, D.A.5
Devlin, B.H.6
-
59
-
-
27444447025
-
Clinical features of 78 adults with 22q11 deletion syndrome
-
Bassett A.S., Chow E.W., Husted J., Weksberg R., Caluseriu O., Webb G.D., et al. Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Genet A 2005, 138:307-313.
-
(2005)
Am J Med Genet A
, vol.138
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.2
Husted, J.3
Weksberg, R.4
Caluseriu, O.5
Webb, G.D.6
-
60
-
-
80051791491
-
Thymic microenvironment reconstitution after postnatal human thymus transplantation
-
Li B., Li J., Devlin B.H., Markert M.L. Thymic microenvironment reconstitution after postnatal human thymus transplantation. Clin Immunol 2011, 140:244-259.
-
(2011)
Clin Immunol
, vol.140
, pp. 244-259
-
-
Li, B.1
Li, J.2
Devlin, B.H.3
Markert, M.L.4
-
61
-
-
18344383720
-
Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease
-
Staple L., Andrews T., McDonald-McGinn D., Zackai E., Sullivan K.E. Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease. Pediatr Allergy Immunol 2005, 16:226-230.
-
(2005)
Pediatr Allergy Immunol
, vol.16
, pp. 226-230
-
-
Staple, L.1
Andrews, T.2
McDonald-McGinn, D.3
Zackai, E.4
Sullivan, K.E.5
-
62
-
-
33846287885
-
Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease
-
Milner J.D., Ward J.M., Keane-Myers A., Paul W.E. Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease. Proc Natl Acad Sci U S A 2007, 104:576-581.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 576-581
-
-
Milner, J.D.1
Ward, J.M.2
Keane-Myers, A.3
Paul, W.E.4
-
63
-
-
0038575724
-
Autoimmune cytopenias in the 22q11.2 deletion syndrome
-
Davies J.K., Telfer P., Cavenagh J.D., Foot N., Neat M. Autoimmune cytopenias in the 22q11.2 deletion syndrome. Clin Lab Haematol 2003, 25:195-197.
-
(2003)
Clin Lab Haematol
, vol.25
, pp. 195-197
-
-
Davies, J.K.1
Telfer, P.2
Cavenagh, J.D.3
Foot, N.4
Neat, M.5
-
64
-
-
0034790618
-
Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome
-
Davies K., Stiehm E.R., Woo P., Murray K.J. Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome. JRheumatol 2001, 28:2326-2334.
-
(2001)
JRheumatol
, vol.28
, pp. 2326-2334
-
-
Davies, K.1
Stiehm, E.R.2
Woo, P.3
Murray, K.J.4
-
65
-
-
0030715081
-
Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome
-
DePiero A.D., Lourie E.M., Berman B.W., Robin N.H., Zinn A.B., Hostoffer R.W. Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. JPediatr 1997, 131:484-486.
-
(1997)
JPediatr
, vol.131
, pp. 484-486
-
-
DePiero, A.D.1
Lourie, E.M.2
Berman, B.W.3
Robin, N.H.4
Zinn, A.B.5
Hostoffer, R.W.6
-
66
-
-
0037366965
-
Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report
-
Kratz C.P., Niehues T., Lyding S., Heusch A., Janssen G., Gobel U. Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report. Pediatr Hematol Oncol 2003, 20:167-172.
-
(2003)
Pediatr Hematol Oncol
, vol.20
, pp. 167-172
-
-
Kratz, C.P.1
Niehues, T.2
Lyding, S.3
Heusch, A.4
Janssen, G.5
Gobel, U.6
-
67
-
-
0041832225
-
Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome
-
Lawrence S., McDonald-McGinn D.M., Zackai E., Sullivan K.E. Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome. JPediatr 2003, 143:277-278.
-
(2003)
JPediatr
, vol.143
, pp. 277-278
-
-
Lawrence, S.1
McDonald-McGinn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
68
-
-
0029795561
-
Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?
-
Rasmussen S.A., Williams C.A., Ayoub E.M., Sleasman J.W., Gray B.A., Bent-Williams A., et al. Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: coincidence or unusual complication?. Am J Med Genet 1996, 64:546-550.
-
(1996)
Am J Med Genet
, vol.64
, pp. 546-550
-
-
Rasmussen, S.A.1
Williams, C.A.2
Ayoub, E.M.3
Sleasman, J.W.4
Gray, B.A.5
Bent-Williams, A.6
-
69
-
-
0031788096
-
Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association
-
Verloes A., Curry C., Jamar M., Herens C., O'Lague P., Marks J., et al. Juvenile rheumatoid arthritis and del(22q11) syndrome: a non-random association. JMed Genet 1998, 35:943-947.
-
(1998)
JMed Genet
, vol.35
, pp. 943-947
-
-
Verloes, A.1
Curry, C.2
Jamar, M.3
Herens, C.4
O'Lague, P.5
Marks, J.6
-
70
-
-
0042695819
-
Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome)
-
Digilio M.C., Giannotti A., Castro M., Colistro F., Ferretti F., Marino B., et al. Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Am J Med Genet A 2003, 121A:286-288.
-
(2003)
Am J Med Genet A
, vol.121 A
, pp. 286-288
-
-
Digilio, M.C.1
Giannotti, A.2
Castro, M.3
Colistro, F.4
Ferretti, F.5
Marino, B.6
-
71
-
-
8644287589
-
Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion
-
Brown J.J., Datta V., Browning M.J., Swift P.G. Graves' disease in DiGeorge syndrome: patient report with a review of endocrine autoimmunity associated with 22q11.2 deletion. JPediatr Endocrinol Metab 2004, 17:1575-1579.
-
(2004)
JPediatr Endocrinol Metab
, vol.17
, pp. 1575-1579
-
-
Brown, J.J.1
Datta, V.2
Browning, M.J.3
Swift, P.G.4
-
72
-
-
84860392240
-
Aprospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Jawad A., Prak E., Boyer J., McDonald-McGinn D., Zackai E., McDonald K., et al. Aprospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). JClin Immunol 2011, 31:927-935.
-
(2011)
JClin Immunol
, vol.31
, pp. 927-935
-
-
Jawad, A.1
Prak, E.2
Boyer, J.3
McDonald-McGinn, D.4
Zackai, E.5
McDonald, K.6
-
73
-
-
0036733569
-
CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia
-
Sullivan K.E., McDonald-McGinn D., Zackai E.H. CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia. Clin Diagn Lab Immunol 2002, 9:1129-1131.
-
(2002)
Clin Diagn Lab Immunol
, vol.9
, pp. 1129-1131
-
-
Sullivan, K.E.1
McDonald-McGinn, D.2
Zackai, E.H.3
|