-
1
-
-
0028253250
-
Maldescent of the thymus
-
178, author reply
-
DiGeorge A.M. Maldescent of the thymus. Pediatr Pathol 1994, 14(1):9-80. 178; author reply.
-
(1994)
Pediatr Pathol
, vol.14
, Issue.1
, pp. 9-80
-
-
DiGeorge, A.M.1
-
2
-
-
0018415066
-
The spectrum of the DiGeorge syndrome
-
Conley M.E., Beckwith J.B., Mancer J.F., Tenckhoff L. The spectrum of the DiGeorge syndrome. J Pediatr 1979, 94(6):883-890.
-
(1979)
J Pediatr
, vol.94
, Issue.6
, pp. 883-890
-
-
Conley, M.E.1
Beckwith, J.B.2
Mancer, J.F.3
Tenckhoff, L.4
-
3
-
-
0025913982
-
The DiGeorge anomaly
-
Hong R. The DiGeorge anomaly. Immunodefic Rev 1991, 3(1):1-14.
-
(1991)
Immunodefic Rev
, vol.3
, Issue.1
, pp. 1-14
-
-
Hong, R.1
-
4
-
-
0019501676
-
Clinical and immunologic spectrum of the DiGeorge syndrome
-
Barrett D.J., Ammann A.J., Wara D.W., Cowan M.J., Fisher T.J., Stiehm E.R. Clinical and immunologic spectrum of the DiGeorge syndrome. J Clin Lab Immunol 1981, 6(1):1-6.
-
(1981)
J Clin Lab Immunol
, vol.6
, Issue.1
, pp. 1-6
-
-
Barrett, D.J.1
Ammann, A.J.2
Wara, D.W.3
Cowan, M.J.4
Fisher, T.J.5
Stiehm, E.R.6
-
5
-
-
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(2):353-366.
-
(2008)
Immunol Allergy Clin North Am
, vol.28
, Issue.2
, pp. 353-366
-
-
Sullivan, K.E.1
-
6
-
-
84880145749
-
Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature
-
Monteiro F.P., Vieira T.P., Sgardioli I.C., Molck M.C., Damiano A.P., Souza J., et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature. Eur J Pediatr 2013, 172(7):927-945.
-
(2013)
Eur J Pediatr
, vol.172
, Issue.7
, pp. 927-945
-
-
Monteiro, F.P.1
Vieira, T.P.2
Sgardioli, I.C.3
Molck, M.C.4
Damiano, A.P.5
Souza, J.6
-
7
-
-
0038020123
-
Parathyroid function and growth in 22q11.2 deletion syndrome
-
Brauner R., Le Harivel de Gonneville A., Kindermans C., Le Bidois J., Prieur M., Lyonnet S., et al. Parathyroid function and growth in 22q11.2 deletion syndrome. J Pediatr 2003, 142(5):504-508.
-
(2003)
J Pediatr
, vol.142
, Issue.5
, pp. 504-508
-
-
Brauner, R.1
Le Harivel de Gonneville, A.2
Kindermans, C.3
Le Bidois, J.4
Prieur, M.5
Lyonnet, S.6
-
8
-
-
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 2011, 90(1):1-18.
-
(2011)
Medicine
, vol.90
, Issue.1
, pp. 1-18
-
-
McDonald-McGinn, D.M.1
Sullivan, K.E.2
-
9
-
-
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. J Med Genet 1997, 34(10):798-804.
-
(1997)
J Med Genet
, vol.34
, Issue.10
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
-
10
-
-
48349130692
-
Immunologic defects in 22q11.2 deletion syndrome
-
7. e1-4
-
McLean-Tooke A., Barge D., Spickett G.P., Gennery A.R. Immunologic defects in 22q11.2 deletion syndrome. J Allergy Clin Immunol 2008, 122(2):362-367. 7. e1-4.
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.2
, pp. 362-367
-
-
McLean-Tooke, A.1
Barge, D.2
Spickett, G.P.3
Gennery, A.R.4
-
11
-
-
79955538630
-
CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
-
Bergman J.E., Janssen N., Hoefsloot L.H., Jongmans M.C., Hofstra R.M., van Ravenswaaij-Arts C.M. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 2011, 48(5):334-342.
-
(2011)
J Med Genet
, vol.48
, Issue.5
, pp. 334-342
-
-
Bergman, J.E.1
Janssen, N.2
Hoefsloot, L.H.3
Jongmans, M.C.4
Hofstra, R.M.5
van Ravenswaaij-Arts, C.M.6
-
12
-
-
14344261381
-
Adolescent and adult issues in CHARGE syndrome
-
Blake K.D., Salem-Hartshorne N., Daoud M.A., Gradstein j. Adolescent and adult issues in CHARGE syndrome. Clin Pediatr 2005, 44(2):151-159.
-
(2005)
Clin Pediatr
, vol.44
, Issue.2
, pp. 151-159
-
-
Blake, K.D.1
Salem-Hartshorne, N.2
Daoud, M.A.3
Gradstein, J.4
-
13
-
-
0023616358
-
The pattern of cardiovascular malformation in the CHARGE association
-
Lin A.E., Chin A.J., Devine W., Park S.C., Zackai E. The pattern of cardiovascular malformation in the CHARGE association. Am J Dis Child 1987, 141(9):1010-1013.
-
(1987)
Am J Dis Child
, vol.141
, Issue.9
, pp. 1010-1013
-
-
Lin, A.E.1
Chin, A.J.2
Devine, W.3
Park, S.C.4
Zackai, E.5
-
14
-
-
33646002646
-
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations
-
Aramaki M., Udaka T., Kosaki R., Makita Y., Okamoto N., Yoshihashi H., et al. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. J Pediatr 2006, 148(3):410-414.
-
(2006)
J Pediatr
, vol.148
, Issue.3
, pp. 410-414
-
-
Aramaki, M.1
Udaka, T.2
Kosaki, R.3
Makita, Y.4
Okamoto, N.5
Yoshihashi, H.6
-
15
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers L.E., van Ravenswaaij C.M., Admiraal R., Hurst J.A., de Vries B.B., Janssen I.M., et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004, 36(9):955-957.
-
(2004)
Nat Genet
, vol.36
, Issue.9
, pp. 955-957
-
-
Vissers, L.E.1
van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
de Vries, B.B.5
Janssen, I.M.6
-
16
-
-
0031892284
-
CHARGE association: an update and review for the primary pediatrician
-
Blake K.D., Davenport S.L., Hall B.D., Hefner M.A., Pagon R.A., Williams M.S., et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr 1998, 37(3):159-173.
-
(1998)
Clin Pediatr
, vol.37
, Issue.3
, pp. 159-173
-
-
Blake, K.D.1
Davenport, S.L.2
Hall, B.D.3
Hefner, M.A.4
Pagon, R.A.5
Williams, M.S.6
-
17
-
-
0027417075
-
Congenital heart disease in CHARGE association
-
Wyse R.K., al-Mahdawi S., Burn J., Blake K. Congenital heart disease in CHARGE association. Pediatr Cardiol 1993, 14(2):75-81.
-
(1993)
Pediatr Cardiol
, vol.14
, Issue.2
, pp. 75-81
-
-
Wyse, R.K.1
al-Mahdawi, S.2
Burn, J.3
Blake, K.4
-
18
-
-
14344251519
-
An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study
-
Issekutz K.A., Graham J.M., Prasad C., Smith I.M., Blake K.D. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet 2005, 133A(3):309-317.
-
(2005)
Am J Med Genet
, vol.133 A
, Issue.3
, pp. 309-317
-
-
Issekutz, K.A.1
Graham, J.M.2
Prasad, C.3
Smith, I.M.4
Blake, K.D.5
-
19
-
-
20044380722
-
CHARGE association in Sweden: malformations and functional deficits
-
Stromland K., Sjogreen L., Johansson M., Ekman Joelsson B.M., Miller M., Danielsson S., et al. CHARGE association in Sweden: malformations and functional deficits. Am J Med Genet 2005, 133(3):331-339.
-
(2005)
Am J Med Genet
, vol.133
, Issue.3
, pp. 331-339
-
-
Stromland, K.1
Sjogreen, L.2
Johansson, M.3
Ekman Joelsson, B.M.4
Miller, M.5
Danielsson, S.6
-
20
-
-
23844446999
-
Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome
-
Choi J.H., Shin Y.L., Kim G.H., Seo E.J., Kim Y., Park I.S., et al. Endocrine manifestations of chromosome 22q11.2 microdeletion syndrome. Horm Res 2005, 63(6):294-299.
-
(2005)
Horm Res
, vol.63
, Issue.6
, pp. 294-299
-
-
Choi, J.H.1
Shin, Y.L.2
Kim, G.H.3
Seo, E.J.4
Kim, Y.5
Park, I.S.6
-
21
-
-
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. J Allergy Clin Immunol 2003, 111(3):573-579.
-
(2003)
J Allergy Clin Immunol
, vol.111
, Issue.3
, pp. 573-579
-
-
Chinen, J.1
Rosenblatt, H.M.2
Smith, E.O.3
Shearer, W.T.4
Noroski, L.M.5
-
22
-
-
33645128921
-
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
-
Sanlaville D., Etchevers H.C., Gonzales M., Martinovic J., Clement-Ziza M., Delezoide A.L., et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 2006, 43(3):211-217.
-
(2006)
J Med Genet
, vol.43
, Issue.3
, pp. 211-217
-
-
Sanlaville, D.1
Etchevers, H.C.2
Gonzales, M.3
Martinovic, J.4
Clement-Ziza, M.5
Delezoide, A.L.6
-
23
-
-
80053385843
-
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
-
Kim H.G., Layman L.C. The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol 2011, 346(1-2):74-83.
-
(2011)
Mol Cell Endocrinol
, vol.346
, Issue.1-2
, pp. 74-83
-
-
Kim, H.G.1
Layman, L.C.2
-
24
-
-
24044515278
-
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
-
Fine S.E., Weissman A., Gerdes M., Pinto-Martin J., Zackai E.H., McDonald-McGinn D.M., et al. Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 2005, 35(4):461-470.
-
(2005)
J Autism Dev Disord
, vol.35
, Issue.4
, pp. 461-470
-
-
Fine, S.E.1
Weissman, A.2
Gerdes, M.3
Pinto-Martin, J.4
Zackai, E.H.5
McDonald-McGinn, D.M.6
-
25
-
-
33748426974
-
The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms
-
Vorstman J.A., Morcus M.E., Duijff S.N., Klaassen P.W., Heineman-de Boer J.A., Beemer F.A., et al. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006, 45(9):1104-1113.
-
(2006)
J Am Acad Child Adolesc Psychiatry
, vol.45
, Issue.9
, pp. 1104-1113
-
-
Vorstman, J.A.1
Morcus, M.E.2
Duijff, S.N.3
Klaassen, P.W.4
Heineman-de Boer, J.A.5
Beemer, F.A.6
-
26
-
-
34247205819
-
Autism in children with 22q11.2 deletion syndrome
-
author reply 4-4
-
Eliez S. Autism in children with 22q11.2 deletion syndrome. J Am Acad Child Adolesc Psychiatry 2007, 46(4):433-434. author reply 4-4.
-
(2007)
J Am Acad Child Adolesc Psychiatry
, vol.46
, Issue.4
, pp. 433-434
-
-
Eliez, S.1
-
27
-
-
79953306632
-
The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders
-
Drew L.J., Crabtree G.W., Markx S., Stark K.L., Chaverneff F., Xu B., et al. The 22q11.2 microdeletion: fifteen years of insights into the genetic and neural complexity of psychiatric disorders. Int J Dev Neurosci 2011, 29(3):259-281.
-
(2011)
Int J Dev Neurosci
, vol.29
, Issue.3
, pp. 259-281
-
-
Drew, L.J.1
Crabtree, G.W.2
Markx, S.3
Stark, K.L.4
Chaverneff, F.5
Xu, B.6
-
28
-
-
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 2005, 138(4):307-313.
-
(2005)
Am J Med Genet
, vol.138
, Issue.4
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.2
Husted, J.3
Weksberg, R.4
Caluseriu, O.5
Webb, G.D.6
-
29
-
-
34047128675
-
Ocular findings in the chromosome 22q11.2 deletion syndrome
-
Forbes B.J., Binenbaum G., Edmond J.C., DeLarato N., McDonald-McGinn D.M., Zackai E.H. Ocular findings in the chromosome 22q11.2 deletion syndrome. J AAPOS 2007, 11(2):179-182.
-
(2007)
J AAPOS
, vol.11
, Issue.2
, pp. 179-182
-
-
Forbes, B.J.1
Binenbaum, G.2
Edmond, J.C.3
DeLarato, N.4
McDonald-McGinn, D.M.5
Zackai, E.H.6
-
30
-
-
84870249331
-
Speech and hearing in adults with 22q11.2 deletion syndrome
-
Persson C., Friman V., Oskarsdottir S., Jonsson R. Speech and hearing in adults with 22q11.2 deletion syndrome. Am J Med Genet 2012, 158A(12):3071-3079.
-
(2012)
Am J Med Genet
, vol.158 A
, Issue.12
, pp. 3071-3079
-
-
Persson, C.1
Friman, V.2
Oskarsdottir, S.3
Jonsson, R.4
-
31
-
-
0036897149
-
Otolaryngologic manifestations of the 22q11.2 deletion syndrome
-
Dyce O., McDonald-McGinn D., Kirschner R.E., Zackai E., Young K., Jacobs I.N. Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol-Head Neck Surg 2002, 128(12):1408-1412.
-
(2002)
Arch Otolaryngol-Head Neck Surg
, vol.128
, Issue.12
, pp. 1408-1412
-
-
Dyce, O.1
McDonald-McGinn, D.2
Kirschner, R.E.3
Zackai, E.4
Young, K.5
Jacobs, I.N.6
-
32
-
-
85047675071
-
Oral manifestations in 22q11 deletion syndrome
-
Klingberg G., Oskarsdottir S., Johannesson E.L., Noren J.G. Oral manifestations in 22q11 deletion syndrome. Int J Paediatr Dent 2002, 12(1):14-23.
-
(2002)
Int J Paediatr Dent
, vol.12
, Issue.1
, pp. 14-23
-
-
Klingberg, G.1
Oskarsdottir, S.2
Johannesson, E.L.3
Noren, J.G.4
-
33
-
-
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 2003, 121A(3):286-288.
-
(2003)
Am J Med Genet
, vol.121 A
, Issue.3
, pp. 286-288
-
-
Digilio, M.C.1
Giannotti, A.2
Castro, M.3
Colistro, F.4
Ferretti, F.5
Marino, B.6
-
34
-
-
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). J Pediatr 2001, 139(5):715-723.
-
(2001)
J Pediatr
, vol.139
, Issue.5
, pp. 715-723
-
-
Jawad, A.F.1
McDonald-Mcginn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
35
-
-
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. J Pediatr 2003, 143(2):277-278.
-
(2003)
J Pediatr
, vol.143
, Issue.2
, pp. 277-278
-
-
Lawrence, S.1
McDonald-McGinn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
36
-
-
16944363108
-
Features of DiGeorge syndrome and CHARGE association in five patients
-
de Lonlay-Debeney P., Cormier-Daire V., Amiel J., Abadie V., Odent S., Paupe A., et al. Features of DiGeorge syndrome and CHARGE association in five patients. J Med Genet 1997, 34(12):986-989.
-
(1997)
J Med Genet
, vol.34
, Issue.12
, pp. 986-989
-
-
de Lonlay-Debeney, P.1
Cormier-Daire, V.2
Amiel, J.3
Abadie, V.4
Odent, S.5
Paupe, A.6
-
37
-
-
70249098024
-
DiGeorge anomaly in the absence of chromosome 22q11.2 deletion
-
Rope A.F., Cragun D.L., Saal H.M., Hopkin R.J. DiGeorge anomaly in the absence of chromosome 22q11.2 deletion. J Pediatr 2009, 155(4):560-565.
-
(2009)
J Pediatr
, vol.155
, Issue.4
, pp. 560-565
-
-
Rope, A.F.1
Cragun, D.L.2
Saal, H.M.3
Hopkin, R.J.4
-
38
-
-
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(8):2574-2581.
-
(2004)
Blood
, vol.104
, Issue.8
, 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
-
39
-
-
0033554731
-
Transplantation of thymus tissue in complete DiGeorge syndrome
-
Markert M.L., Boeck A., Hale L.P., Kloster A.L., McLaughlin T.M., Batchvarova M.N., et al. Transplantation of thymus tissue in complete DiGeorge syndrome. N Engl J Med 1999, 341(16):1180-1189.
-
(1999)
N Engl J Med
, vol.341
, Issue.16
, pp. 1180-1189
-
-
Markert, M.L.1
Boeck, A.2
Hale, L.P.3
Kloster, A.L.4
McLaughlin, T.M.5
Batchvarova, M.N.6
-
40
-
-
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(10):4539-4547.
-
(2007)
Blood
, vol.109
, Issue.10
, 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
-
42
-
-
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(3):1121-1130.
-
(2003)
Blood
, vol.102
, Issue.3
, 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
-
43
-
-
44949125693
-
Mutations in CHD7 in patients with CHARGE syndrome cause T-B+ natural killer cell+severe combined immune deficiency and may cause Omenn-like syndrome
-
Gennery A.R., Slatter M.A., Rice J., Hoefsloot L.H., Barge D., McLean-Tooke A., et al. Mutations in CHD7 in patients with CHARGE syndrome cause T-B+ natural killer cell+severe combined immune deficiency and may cause Omenn-like syndrome. Clin Exp Immunol 2008, 153(1):75-80.
-
(2008)
Clin Exp Immunol
, vol.153
, Issue.1
, pp. 75-80
-
-
Gennery, A.R.1
Slatter, M.A.2
Rice, J.3
Hoefsloot, L.H.4
Barge, D.5
McLean-Tooke, A.6
-
44
-
-
34548773900
-
Immunological abnormalities in CHARGE syndrome
-
Writzl K., Cale C.M., Pierce C.M., Wilson L.C., Hennekam R.C. Immunological abnormalities in CHARGE syndrome. Eur J Med Genet 2007, 50(5):338-345.
-
(2007)
Eur J Med Genet
, vol.50
, Issue.5
, pp. 338-345
-
-
Writzl, K.1
Cale, C.M.2
Pierce, C.M.3
Wilson, L.C.4
Hennekam, R.C.5
-
45
-
-
34948817731
-
Complete DiGeorge syndrome associated with CHD7 mutation
-
Sanka M., Tangsinmankong N., Loscalzo M., Sleasman J.W., Dorsey M.J. Complete DiGeorge syndrome associated with CHD7 mutation. J Allergy Clin Immunol 2007, 120(4):952-954.
-
(2007)
J Allergy Clin Immunol
, vol.120
, Issue.4
, pp. 952-954
-
-
Sanka, M.1
Tangsinmankong, N.2
Loscalzo, M.3
Sleasman, J.W.4
Dorsey, M.J.5
-
46
-
-
14344262552
-
Updated diagnostic criteria for CHARGE syndrome: a proposal
-
Verloes A. Updated diagnostic criteria for CHARGE syndrome: a proposal. Am J Med Genet 2005, 133A(3):306-308.
-
(2005)
Am J Med Genet
, vol.133 A
, Issue.3
, pp. 306-308
-
-
Verloes, A.1
-
47
-
-
0019425377
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
-
Pagon R.A., Graham J.M., Zonana J., Yong S.L. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 1981, 99(2):223-227.
-
(1981)
J Pediatr
, vol.99
, Issue.2
, pp. 223-227
-
-
Pagon, R.A.1
Graham, J.M.2
Zonana, J.3
Yong, S.L.4
-
48
-
-
78649644871
-
-
Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews. Seattle, WA
-
Lalani SR, Hefner MA, Belmont JW, Davenport SLH. CHARGE syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, editors. GeneReviews. Seattle, WA; 1993.
-
(1993)
CHARGE syndrome.
-
-
Lalani, S.R.1
Hefner, M.A.2
Belmont, J.W.3
Davenport, S.L.H.4
-
49
-
-
0036842407
-
Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach
-
Wang R., Martinez-Frias M.L., Graham J.M. Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach. J Pediatr 2002, 141(5):611-617.
-
(2002)
J Pediatr
, vol.141
, Issue.5
, pp. 611-617
-
-
Wang, R.1
Martinez-Frias, M.L.2
Graham, J.M.3
-
50
-
-
84875978314
-
Dynamics of thymus organogenesis and colonization in early human development
-
Farley A.M., Morris L.X., Vroegindeweij E., Depreter M.L., Vaidya H., Stenhouse F.H., et al. Dynamics of thymus organogenesis and colonization in early human development. Development 2013, 140(9):2015-2026.
-
(2013)
Development
, vol.140
, Issue.9
, pp. 2015-2026
-
-
Farley, A.M.1
Morris, L.X.2
Vroegindeweij, E.3
Depreter, M.L.4
Vaidya, H.5
Stenhouse, F.H.6
-
51
-
-
84865216720
-
Localised inhibition of FGF signalling in the third pharyngeal pouch is required for normal thymus and parathyroid organogenesis
-
Gardiner J.R., Jackson A.L., Gordon J., Lickert H., Manley N.R., Basson M.A. Localised inhibition of FGF signalling in the third pharyngeal pouch is required for normal thymus and parathyroid organogenesis. Development 2012, 139(18):3456-3466.
-
(2012)
Development
, vol.139
, Issue.18
, pp. 3456-3466
-
-
Gardiner, J.R.1
Jackson, A.L.2
Gordon, J.3
Lickert, H.4
Manley, N.R.5
Basson, M.A.6
-
52
-
-
77949489700
-
The pharyngeal pouches and clefts: development, evolution, structure and derivatives
-
Grevellec A., Tucker A.S. The pharyngeal pouches and clefts: development, evolution, structure and derivatives. Semin Cell Dev Biol 2010, 21(3):325-332.
-
(2010)
Semin Cell Dev Biol
, vol.21
, Issue.3
, pp. 325-332
-
-
Grevellec, A.1
Tucker, A.S.2
-
53
-
-
33847348346
-
Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations
-
Hutson M.R., Kirby M.L. Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations. Semin Cell Dev Biol 2007, 18(1):101-110.
-
(2007)
Semin Cell Dev Biol
, vol.18
, Issue.1
, pp. 101-110
-
-
Hutson, M.R.1
Kirby, M.L.2
-
54
-
-
84863086848
-
The neural crest in cardiac congenital anomalies
-
Keyte A., Hutson M.R. The neural crest in cardiac congenital anomalies. Differentiation 2012, 84(1):25-40.
-
(2012)
Differentiation
, vol.84
, Issue.1
, pp. 25-40
-
-
Keyte, A.1
Hutson, M.R.2
-
55
-
-
85027948096
-
Tbx1 genetically interacts with the transforming growth factor-beta/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling
-
Papangeli I., Scambler P.J. Tbx1 genetically interacts with the transforming growth factor-beta/bone morphogenetic protein inhibitor Smad7 during great vessel remodeling. Circ Res 2013, 112(1):90-102.
-
(2013)
Circ Res
, vol.112
, Issue.1
, pp. 90-102
-
-
Papangeli, I.1
Scambler, P.J.2
-
56
-
-
0023465867
-
Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge anomaly
-
Thomas R.A., Landing B.H., Wells T.R. Embryologic and other developmental considerations of thirty-eight possible variants of the DiGeorge anomaly. Am J Med Genet 1987, 3(Suppl.):43-66.
-
(1987)
Am J Med Genet
, vol.3
, pp. 43-66
-
-
Thomas, R.A.1
Landing, B.H.2
Wells, T.R.3
-
57
-
-
0031844288
-
The annual incidence of DiGeorge/velocardiofacial syndrome
-
Devriendt K., Fryns J.P., Mortier G., van Thienen M.N., Keymolen K. The annual incidence of DiGeorge/velocardiofacial syndrome. J Med Genet 1998, 35(9):789-790.
-
(1998)
J Med Genet
, vol.35
, Issue.9
, pp. 789-790
-
-
Devriendt, K.1
Fryns, J.P.2
Mortier, G.3
van Thienen, M.N.4
Keymolen, K.5
-
58
-
-
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(4):348-351.
-
(1998)
Arch Dis Child
, vol.79
, Issue.4
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
LiLing, J.3
Wren, C.4
-
59
-
-
0029783493
-
Prevalence of 22q11 microdeletion
-
Tezenas Du Montcel S., Mendizabai H., Ayme S., Levy A., Philip N. Prevalence of 22q11 microdeletion. J Med Genet 1996, 33(8):719.
-
(1996)
J Med Genet
, vol.33
, Issue.8
, pp. 719
-
-
Tezenas Du Montcel, S.1
Mendizabai, H.2
Ayme, S.3
Levy, A.4
Philip, N.5
-
60
-
-
44149115417
-
Velo-cardio-facial syndrome: 30 years of study
-
Shprintzen R.J. Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 2008, 14(1):3-10.
-
(2008)
Dev Disabil Res Rev
, vol.14
, Issue.1
, pp. 3-10
-
-
Shprintzen, R.J.1
-
61
-
-
34147124382
-
Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms
-
Shaikh T.H., O'Connor R.J., Pierpont M.E., McGrath J., Hacker A.M., Nimmakayalu M., et al. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res 2007, 17(4):482-491.
-
(2007)
Genome Res
, vol.17
, Issue.4
, pp. 482-491
-
-
Shaikh, T.H.1
O'Connor, R.J.2
Pierpont, M.E.3
McGrath, J.4
Hacker, A.M.5
Nimmakayalu, M.6
-
62
-
-
84870985438
-
Genotype-phenotype correlation in 22q11.2 deletion syndrome
-
Michaelovsky E., Frisch A., Carmel M., Patya M., Zarchi o., Green T., et al. Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet 2012, 13:122.
-
(2012)
BMC Med Genet
, vol.13
, pp. 122
-
-
Michaelovsky, E.1
Frisch, A.2
Carmel, M.3
Patya, M.4
Zarchi, O.5
Green, T.6
-
63
-
-
0042632658
-
Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies
-
Digilio M.C., Angioni A., De Santis M., Lombardo A., Giannotti A., Dallapiccola B., et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies. Clin Genet 2003, 63(4):308-313.
-
(2003)
Clin Genet
, vol.63
, Issue.4
, pp. 308-313
-
-
Digilio, M.C.1
Angioni, A.2
De Santis, M.3
Lombardo, A.4
Giannotti, A.5
Dallapiccola, B.6
-
64
-
-
84876416890
-
Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes
-
Delio M., Guo T., McDonald-McGinn D.M., Zackai E., Herman S., Kaminetzky M., et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet 2013, 92(3):439-447.
-
(2013)
Am J Hum Genet
, vol.92
, Issue.3
, pp. 439-447
-
-
Delio, M.1
Guo, T.2
McDonald-McGinn, D.M.3
Zackai, E.4
Herman, S.5
Kaminetzky, M.6
-
65
-
-
0035263599
-
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
-
Lindsay E.A., Vitelli F., Su H., Morishima M., Huynh T., Pramparo T., et al. Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 2001, 410(6824):97-101.
-
(2001)
Nature
, vol.410
, Issue.6824
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
Morishima, M.4
Huynh, T.5
Pramparo, T.6
-
66
-
-
33745197499
-
Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients
-
Arnold J.S., Braunstein E.M., Ohyama T., Groves A.K., Adams J.C., Brown M.C., et al. Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients. Hum Mol Genet 2006, 15(10):1629-1639.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.10
, pp. 1629-1639
-
-
Arnold, J.S.1
Braunstein, E.M.2
Ohyama, T.3
Groves, A.K.4
Adams, J.C.5
Brown, M.C.6
-
67
-
-
33847296702
-
The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning
-
Fagman H., Liao J., Westerlund J., Andersson L., Morrow B.E., Nilsson M. The 22q11 deletion syndrome candidate gene Tbx1 determines thyroid size and positioning. Hum Mol Genet 2007, 16(3):276-285.
-
(2007)
Hum Mol Genet
, vol.16
, Issue.3
, pp. 276-285
-
-
Fagman, H.1
Liao, J.2
Westerlund, J.3
Andersson, L.4
Morrow, B.E.5
Nilsson, M.6
-
68
-
-
84866504304
-
Phenotypic variability of atypical 22q11.2 deletions not including TBX1
-
Verhagen J.M., Diderich K.E., Oudesluijs G., Mancini G.M., Eggink A.J., Verkleij-Hagoort A.C., et al. Phenotypic variability of atypical 22q11.2 deletions not including TBX1. Am J Med Genet 2012, 158A(10):2412-2420.
-
(2012)
Am J Med Genet
, vol.158 A
, Issue.10
, pp. 2412-2420
-
-
Verhagen, J.M.1
Diderich, K.E.2
Oudesluijs, G.3
Mancini, G.M.4
Eggink, A.J.5
Verkleij-Hagoort, A.C.6
-
69
-
-
0038364111
-
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene
-
Conti E., Grifone N., Sarkozy A., Tandoi C., Marino B., Digilio M.C., et al. DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene. Eur J Hum Genet 2003, 11(4):349-351.
-
(2003)
Eur J Hum Genet
, vol.11
, Issue.4
, pp. 349-351
-
-
Conti, E.1
Grifone, N.2
Sarkozy, A.3
Tandoi, C.4
Marino, B.5
Digilio, M.C.6
-
70
-
-
27644524899
-
COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome
-
Gothelf D., Eliez S., Thompson T., Hinard C., Penniman L., Feinstein C., et al. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci 2005, 8(11):1500-1502.
-
(2005)
Nat Neurosci
, vol.8
, Issue.11
, pp. 1500-1502
-
-
Gothelf, D.1
Eliez, S.2
Thompson, T.3
Hinard, C.4
Penniman, L.5
Feinstein, C.6
-
71
-
-
0032906584
-
The mammalian brain high-affinity L-proline transporter is enriched preferentially in synaptic vesicles in a subpopulation of excitatory nerve terminals in rat forebrain
-
Renick S.E., Kleven D.T., Chan J., Stenius K., Milner T.A., Pickel V.M., et al. The mammalian brain high-affinity L-proline transporter is enriched preferentially in synaptic vesicles in a subpopulation of excitatory nerve terminals in rat forebrain. J Neurosci 1999, 19(1):21-33.
-
(1999)
J Neurosci
, vol.19
, Issue.1
, pp. 21-33
-
-
Renick, S.E.1
Kleven, D.T.2
Chan, J.3
Stenius, K.4
Milner, T.A.5
Pickel, V.M.6
-
72
-
-
27644478443
-
Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice
-
Paterlini M., Zakharenko S.S., Lai W.S., Qin J., Zhang H., Mukai J., et al. Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice. Nat Neurosci 2005, 8(11):1586-1594.
-
(2005)
Nat Neurosci
, vol.8
, Issue.11
, pp. 1586-1594
-
-
Paterlini, M.1
Zakharenko, S.S.2
Lai, W.S.3
Qin, J.4
Zhang, H.5
Mukai, J.6
-
73
-
-
84872581006
-
Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion
-
Xu B., Hsu P.K., Stark K.L., Karayiorgou M., Gogos J.A. Derepression of a neuronal inhibitor due to miRNA dysregulation in a schizophrenia-related microdeletion. Cell 2013, 152(1-2):262-275.
-
(2013)
Cell
, vol.152
, Issue.1-2
, pp. 262-275
-
-
Xu, B.1
Hsu, P.K.2
Stark, K.L.3
Karayiorgou, M.4
Gogos, J.A.5
-
74
-
-
84874530655
-
Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome
-
de la Morena M.T., Eitson J.L., Dozmorov I.M., Belkaya S., Hoover A.R., Anguiano E., et al. Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. Clin Immunol 2013, 147(1):11-22.
-
(2013)
Clin Immunol
, vol.147
, Issue.1
, pp. 11-22
-
-
de la Morena, M.T.1
Eitson, J.L.2
Dozmorov, I.M.3
Belkaya, S.4
Hoover, A.R.5
Anguiano, E.6
-
75
-
-
84876088727
-
MiRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome
-
Brzustowicz L.M., Bassett A.S. miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome. Front Genet 2012, 3:291.
-
(2012)
Front Genet
, vol.3
, pp. 291
-
-
Brzustowicz, L.M.1
Bassett, A.S.2
-
76
-
-
84863872703
-
Mutation update on the CHD7 gene involved in CHARGE syndrome
-
Janssen N., Bergman J.E., Swertz M.A., Tranebjaerg L., Lodahl M., Schoots J., et al. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat 2012, 33(8):1149-1160.
-
(2012)
Hum Mutat
, vol.33
, Issue.8
, pp. 1149-1160
-
-
Janssen, N.1
Bergman, J.E.2
Swertz, M.A.3
Tranebjaerg, L.4
Lodahl, M.5
Schoots, J.6
-
77
-
-
84863875415
-
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
-
Bergman J.E., Janssen N., van der Sloot A.M., de Walle H.E., Schoots J., Rendtorff N.D., et al. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat 2012, 33(8):1251-1260.
-
(2012)
Hum Mutat
, vol.33
, Issue.8
, pp. 1251-1260
-
-
Bergman, J.E.1
Janssen, N.2
van der Sloot, A.M.3
de Walle, H.E.4
Schoots, J.5
Rendtorff, N.D.6
-
78
-
-
84856449269
-
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin
-
Pauli S., von Velsen N., Burfeind P., Steckel M., Manz J., Buchholz A., et al. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin. Clin Genet 2012, 81(3):234-239.
-
(2012)
Clin Genet
, vol.81
, Issue.3
, pp. 234-239
-
-
Pauli, S.1
von Velsen, N.2
Burfeind, P.3
Steckel, M.4
Manz, J.5
Buchholz, A.6
-
79
-
-
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. J Allergy Clin Immunol 2003, 112(5):973-980.
-
(2003)
J Allergy Clin Immunol
, vol.112
, Issue.5
, 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
-
80
-
-
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(3):1020-1025.
-
(2004)
Blood
, vol.103
, Issue.3
, pp. 1020-1025
-
-
Piliero, L.M.1
Sanford, A.N.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
Sullivan, K.E.5
-
81
-
-
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. J Clin Immunol 2005, 25(3):265-274.
-
(2005)
J Clin Immunol
, vol.25
, Issue.3
, pp. 265-274
-
-
Cancrini, C.1
Romiti, M.L.2
Finocchi, A.3
Di Cesare, S.4
Ciaffi, P.5
Capponi, C.6
-
82
-
-
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(5):382-388.
-
(2006)
Pediatr Allergy Immunol
, vol.17
, Issue.5
, pp. 382-388
-
-
Finocchi, A.1
Di Cesare, S.2
Romiti, M.L.3
Capponi, C.4
Rossi, P.5
Carsetti, R.6
-
83
-
-
0033919852
-
T cell 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. T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Clin Exp Immunol 2000, 121(1):127-132.
-
(2000)
Clin Exp Immunol
, vol.121
, Issue.1
, pp. 127-132
-
-
Pierdominici, M.1
Marziali, M.2
Giovannetti, A.3
Oliva, A.4
Rosso, R.5
Marino, B.6
-
84
-
-
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(2):323-331.
-
(2003)
Clin Exp Immunol
, vol.132
, Issue.2
, pp. 323-331
-
-
Pierdominici, M.1
Mazzetta, F.2
Caprini, E.3
Marziali, M.4
Digilio, M.C.5
Marino, B.6
-
85
-
-
20244377074
-
Early development of immunity in diGeorge syndrome
-
Sediva A., Bartunkova J., Zachova R., Polouckova A. Early development of immunity in diGeorge syndrome. Med Sci Monit 2005, 11(4):CR182-CR187.
-
(2005)
Med Sci Monit
, vol.11
, Issue.4
, pp. CR182-CR187
-
-
Sediva, A.1
Bartunkova, J.2
Zachova, R.3
Polouckova, A.4
-
86
-
-
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(3):409-418.
-
(2010)
Clin Immunol
, vol.136
, Issue.3
, pp. 409-418
-
-
Zemble, R.1
Luning Prak, E.2
McDonald, K.3
McDonald-McGinn, D.4
Zackai, E.5
Sullivan, K.6
-
87
-
-
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(5):1129-1131.
-
(2002)
Clin Diagn Lab Immunol
, vol.9
, Issue.5
, pp. 1129-1131
-
-
Sullivan, K.E.1
McDonald-McGinn, D.2
Zackai, E.H.3
-
88
-
-
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(6):422-425.
-
(2002)
Arch Dis Child
, vol.86
, Issue.6
, 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
-
89
-
-
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(3):415-417.
-
(1998)
Clin Diagn Lab Immunol
, vol.5
, Issue.3
, 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
-
90
-
-
57149131812
-
Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome
-
Davis C.M., Kancherla V.S., Reddy A., Chan W., Yeh H.W., Noroski L.M., et al. Development of specific T-cell responses to Candida and tetanus antigens in partial DiGeorge syndrome. J Allergy Clin Immunol 2008, 122(6):1194-1199.
-
(2008)
J Allergy Clin Immunol
, vol.122
, Issue.6
, pp. 1194-1199
-
-
Davis, C.M.1
Kancherla, V.S.2
Reddy, A.3
Chan, W.4
Yeh, H.W.5
Noroski, L.M.6
-
91
-
-
27744468211
-
Immune deficiency in CHARGE association
-
Theodoropoulos D.S. Immune deficiency in CHARGE association. Clin Med Res 2003, 1(1):43-48.
-
(2003)
Clin Med Res
, vol.1
, Issue.1
, pp. 43-48
-
-
Theodoropoulos, D.S.1
-
92
-
-
33645558157
-
Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
McDonald-McGinn D.M., Reilly A., Wallgren-Pettersson C., Hoyme H.E., Yang S.P., Adam M.P., et al. Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Am J Med Genet 2006, 140(8):906-909.
-
(2006)
Am J Med Genet
, vol.140
, Issue.8
, pp. 906-909
-
-
McDonald-McGinn, D.M.1
Reilly, A.2
Wallgren-Pettersson, C.3
Hoyme, H.E.4
Yang, S.P.5
Adam, M.P.6
-
93
-
-
0022520161
-
Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor
-
Van Mierop L.H., Kutsche L.M. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenetic factor. Am J Cardiol 1986, 58(1):133-137.
-
(1986)
Am J Cardiol
, vol.58
, Issue.1
, pp. 133-137
-
-
Van Mierop, L.H.1
Kutsche, L.M.2
-
94
-
-
84885387775
-
22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases
-
Peyvandi S., Lupo P.J., Garbarini J., Woyciechowski S., Edman S., Emanuel B.S., et al. 22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases. Pediatr Cardiol 2013, 34(7):1687-1694.
-
(2013)
Pediatr Cardiol
, vol.34
, Issue.7
, pp. 1687-1694
-
-
Peyvandi, S.1
Lupo, P.J.2
Garbarini, J.3
Woyciechowski, S.4
Edman, S.5
Emanuel, B.S.6
-
95
-
-
58149289799
-
Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome
-
Eberle P., Berger C., Junge S., Dougoud S., Buchel E.V., Riegel M., et al. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome. Clin Exp Immunol 2009, 155(2):189-198.
-
(2009)
Clin Exp Immunol
, vol.155
, Issue.2
, pp. 189-198
-
-
Eberle, P.1
Berger, C.2
Junge, S.3
Dougoud, S.4
Buchel, E.V.5
Riegel, M.6
-
96
-
-
0038697384
-
Hypoparathyroidism and 22q11 deletion syndrome
-
Taylor S.C., Morris G., Wilson D., Davies S.J., Gregory J.W. Hypoparathyroidism and 22q11 deletion syndrome. Arch Dis Child 2003, 88(6):520-522.
-
(2003)
Arch Dis Child
, vol.88
, Issue.6
, pp. 520-522
-
-
Taylor, S.C.1
Morris, G.2
Wilson, D.3
Davies, S.J.4
Gregory, J.W.5
-
97
-
-
20444468958
-
Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review
-
Kar P.S., Ogoe B., Poole R., Meeking D. Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review. J Clin Pathol 2005, 58(6):655-657.
-
(2005)
J Clin Pathol
, vol.58
, Issue.6
, pp. 655-657
-
-
Kar, P.S.1
Ogoe, B.2
Poole, R.3
Meeking, D.4
-
98
-
-
33846340841
-
Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome
-
Lewandowski K.E., Shashi V., Berry P.M., Kwapil T.R. Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 2007, 144(1):27-36.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144
, Issue.1
, pp. 27-36
-
-
Lewandowski, K.E.1
Shashi, V.2
Berry, P.M.3
Kwapil, T.R.4
-
99
-
-
0031009068
-
Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS
-
Swillen A., Devriendt K., Legius E., Eyskens B., Dumoulin M., Gewillig M., et al. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J Med Genet 1997, 34(6):453-458.
-
(1997)
J Med Genet
, vol.34
, Issue.6
, pp. 453-458
-
-
Swillen, A.1
Devriendt, K.2
Legius, E.3
Eyskens, B.4
Dumoulin, M.5
Gewillig, M.6
-
100
-
-
0033063788
-
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
-
Moss E.M., Batshaw M.L., Solot C.B., Gerdes M., McDonald-McGinn D.M., Driscoll D.A., et al. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. J Pediatr 1999, 134(2):193-198.
-
(1999)
J Pediatr
, vol.134
, Issue.2
, pp. 193-198
-
-
Moss, E.M.1
Batshaw, M.L.2
Solot, C.B.3
Gerdes, M.4
McDonald-McGinn, D.M.5
Driscoll, D.A.6
-
101
-
-
0022618852
-
The spectrum of clinical features in CHARGE syndrome
-
Davenport S.L., Hefner M.A., Mitchell J.A. The spectrum of clinical features in CHARGE syndrome. Clin Genet 1986, 29(4):298-310.
-
(1986)
Clin Genet
, vol.29
, Issue.4
, pp. 298-310
-
-
Davenport, S.L.1
Hefner, M.A.2
Mitchell, J.A.3
-
102
-
-
0036088718
-
Language skills in children with velocardiofacial syndrome (deletion 22q11.2)
-
Glaser B., Mumme D.L., Blasey C., Morris M.A., Dahoun S.P., Antonarakis S.E., et al. Language skills in children with velocardiofacial syndrome (deletion 22q11.2). J Pediatr 2002, 140(6):753-758.
-
(2002)
J Pediatr
, vol.140
, Issue.6
, pp. 753-758
-
-
Glaser, B.1
Mumme, D.L.2
Blasey, C.3
Morris, M.A.4
Dahoun, S.P.5
Antonarakis, S.E.6
-
103
-
-
58149159269
-
Gestational diabetes hinders language development in offspring
-
Dionne G., Boivin M., Seguin J.R., Perusse D., Tremblay R.E. Gestational diabetes hinders language development in offspring. Pediatrics 2008, 122(5):e1073-e1079.
-
(2008)
Pediatrics
, vol.122
, Issue.5
, pp. e1073-e1079
-
-
Dionne, G.1
Boivin, M.2
Seguin, J.R.3
Perusse, D.4
Tremblay, R.E.5
-
104
-
-
23644449412
-
Explicit memory performance in infants of diabetic mothers at 1 year of age
-
DeBoer T., Wewerka S., Bauer P.J., Georgieff M.K., Nelson C.A. Explicit memory performance in infants of diabetic mothers at 1 year of age. Dev Med Child Neurol 2005, 47(8):525-531.
-
(2005)
Dev Med Child Neurol
, vol.47
, Issue.8
, pp. 525-531
-
-
DeBoer, T.1
Wewerka, S.2
Bauer, P.J.3
Georgieff, M.K.4
Nelson, C.A.5
-
105
-
-
0033638119
-
Neurophysiologic evaluation of auditory recognition memory in healthy newborn infants and infants of diabetic mothers
-
Deregnier R.A., Nelson C.A., Thomas K.M., Wewerka S., Georgieff M.K. Neurophysiologic evaluation of auditory recognition memory in healthy newborn infants and infants of diabetic mothers. J Pediatr 2000, 137(6):777-784.
-
(2000)
J Pediatr
, vol.137
, Issue.6
, pp. 777-784
-
-
Deregnier, R.A.1
Nelson, C.A.2
Thomas, K.M.3
Wewerka, S.4
Georgieff, M.K.5
-
106
-
-
34047264605
-
Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)
-
Van Aken K., De Smedt B., Van Roie A., Gewillig M., Devriendt K., Fryns J.P., et al. Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome). Dev Med Child Neurol 2007, 49(3):210-213.
-
(2007)
Dev Med Child Neurol
, vol.49
, Issue.3
, pp. 210-213
-
-
Van Aken, K.1
De Smedt, B.2
Van Roie, A.3
Gewillig, M.4
Devriendt, K.5
Fryns, J.P.6
-
107
-
-
33847344253
-
Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study
-
Jansen P.W., Duijff S.N., Beemer F.A., Vorstman J.A., Klaassen P.W., Morcus M.E., et al. Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study. Am J Med Genet 2007, 143(6):574-580.
-
(2007)
Am J Med Genet
, vol.143
, Issue.6
, pp. 574-580
-
-
Jansen, P.W.1
Duijff, S.N.2
Beemer, F.A.3
Vorstman, J.A.4
Klaassen, P.W.5
Morcus, M.E.6
-
108
-
-
33747485290
-
Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications
-
Debbane M., Glaser B., David M.K., Feinstein C., Eliez S. Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Schizophr Res 2006, 84(2-3):187-193.
-
(2006)
Schizophr Res
, vol.84
, Issue.2-3
, pp. 187-193
-
-
Debbane, M.1
Glaser, B.2
David, M.K.3
Feinstein, C.4
Eliez, S.5
-
109
-
-
34247503348
-
Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome
-
Gothelf D., Feinstein C., Thompson T., Gu E., Penniman L., Van Stone E., et al. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am J Psychiatry 2007, 164(4):663-669.
-
(2007)
Am J Psychiatry
, vol.164
, Issue.4
, pp. 663-669
-
-
Gothelf, D.1
Feinstein, C.2
Thompson, T.3
Gu, E.4
Penniman, L.5
Van Stone, E.6
-
110
-
-
84857118738
-
Ophthalmic features of CHARGE syndrome with CHD7 mutations
-
Nishina S., Kosaki R., Yagihashi T., Azuma N., Okamoto N., Hatsukawa Y., et al. Ophthalmic features of CHARGE syndrome with CHD7 mutations. Am J Med Genet 2012, 158A(3):514-518.
-
(2012)
Am J Med Genet
, vol.158 A
, Issue.3
, pp. 514-518
-
-
Nishina, S.1
Kosaki, R.2
Yagihashi, T.3
Azuma, N.4
Okamoto, N.5
Hatsukawa, Y.6
-
111
-
-
0030780570
-
Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association
-
Markert M.L., Majure M., Harville T.O., Hulka G., Oldham K. Severe laryngomalacia and bronchomalacia in DiGeorge syndrome and CHARGE association. Pediatr Pulmonol 1997, 24(5):364-369.
-
(1997)
Pediatr Pulmonol
, vol.24
, Issue.5
, pp. 364-369
-
-
Markert, M.L.1
Majure, M.2
Harville, T.O.3
Hulka, G.4
Oldham, K.5
-
112
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden
-
Oskarsdottir S., Vujic M., Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004, 89(2):148-151.
-
(2004)
Arch Dis Child
, vol.89
, Issue.2
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fasth, A.3
-
113
-
-
0031893397
-
Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature
-
Scuccimarri R., Rodd C. Thyroid abnormalities as a feature of DiGeorge syndrome: a patient report and review of the literature. J Pediatr Endocrinol Metab 1998, 11(2):273-276.
-
(1998)
J Pediatr Endocrinol Metab
, vol.11
, Issue.2
, pp. 273-276
-
-
Scuccimarri, R.1
Rodd, C.2
-
114
-
-
0035659620
-
Graves' disease in patients with 22q11.2 deletion
-
Kawame H., Adachi M., Tachibana K., Kurosawa K., Ito F., Gleason M.M., et al. Graves' disease in patients with 22q11.2 deletion. J Pediatr 2001, 139(6):892-895.
-
(2001)
J Pediatr
, vol.139
, Issue.6
, pp. 892-895
-
-
Kawame, H.1
Adachi, M.2
Tachibana, K.3
Kurosawa, K.4
Ito, F.5
Gleason, M.M.6
-
115
-
-
0021847077
-
DiGeorge syndrome: long-term survival complicated by Graves disease
-
Ham Pong A.J., Cavallo A., Holman G.H., Goldman A.S. DiGeorge syndrome: long-term survival complicated by Graves disease. J Pediatr 1985, 106(4):619-620.
-
(1985)
J Pediatr
, vol.106
, Issue.4
, pp. 619-620
-
-
Ham Pong, A.J.1
Cavallo, A.2
Holman, G.H.3
Goldman, A.S.4
-
116
-
-
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. J Pediatr Endocrinol Metab 2004, 17(11):1575-1579.
-
(2004)
J Pediatr Endocrinol Metab
, vol.17
, Issue.11
, pp. 1575-1579
-
-
Brown, J.J.1
Datta, V.2
Browning, M.J.3
Swift, P.G.4
-
117
-
-
0036009316
-
Autoimmune hyperthyroidism in two adolescents with DiGeorge/velocardiofacial syndrome (22q11 deletion)
-
Segni M., Zimmerman D. Autoimmune hyperthyroidism in two adolescents with DiGeorge/velocardiofacial syndrome (22q11 deletion). Eur J Pediatr 2002, 161(4):233-234.
-
(2002)
Eur J Pediatr
, vol.161
, Issue.4
, pp. 233-234
-
-
Segni, M.1
Zimmerman, D.2
-
118
-
-
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. J Pediatr 1997, 131(3):484-486.
-
(1997)
J Pediatr
, vol.131
, Issue.3
, 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
-
119
-
-
0028092829
-
Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome
-
Pinchas-Hamiel o., Mandel M., Engelberg S., Passwell J.H. Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome. Isr J Med Sci 1994, 30(7):530-532.
-
(1994)
Isr J Med Sci
, vol.30
, Issue.7
, pp. 530-532
-
-
Pinchas-Hamiel, O.1
Mandel, M.2
Engelberg, S.3
Passwell, J.H.4
-
120
-
-
0030951648
-
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)
-
Sullivan K.E., McDonald-McGinn D.M., Driscoll D.A., Zmijewski C.M., Ellabban A.S., Reed L., et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 1997, 40(3):430-436.
-
(1997)
Arthritis Rheum
, vol.40
, Issue.3
, pp. 430-436
-
-
Sullivan, K.E.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Zmijewski, C.M.4
Ellabban, A.S.5
Reed, L.6
-
121
-
-
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. J Rheumatol 2001, 28(10):2326-2334.
-
(2001)
J Rheumatol
, vol.28
, Issue.10
, pp. 2326-2334
-
-
Davies, K.1
Stiehm, E.R.2
Woo, P.3
Murray, K.J.4
-
122
-
-
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(4):546-550.
-
(1996)
Am J Med Genet
, vol.64
, Issue.4
, 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
-
123
-
-
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. J Med Genet 1998, 35(11):943-947.
-
(1998)
J Med Genet
, vol.35
, Issue.11
, pp. 943-947
-
-
Verloes, A.1
Curry, C.2
Jamar, M.3
Herens, C.4
O'Lague, P.5
Marks, J.6
-
124
-
-
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(3):226-230.
-
(2005)
Pediatr Allergy Immunol
, vol.16
, Issue.3
, pp. 226-230
-
-
Staple, L.1
Andrews, T.2
McDonald-McGinn, D.3
Zackai, E.4
Sullivan, K.E.5
-
125
-
-
0031918329
-
Complete DiGeorge syndrome: persistence of profound immunodeficiency
-
Markert M.L., Hummell D.S., Rosenblatt H.M., Schiff S.E., Harville T.O., Williams L.W., et al. Complete DiGeorge syndrome: persistence of profound immunodeficiency. J Pediatr 1998, 132(1):15-21.
-
(1998)
J Pediatr
, vol.132
, Issue.1
, pp. 15-21
-
-
Markert, M.L.1
Hummell, D.S.2
Rosenblatt, H.M.3
Schiff, S.E.4
Harville, T.O.5
Williams, L.W.6
-
126
-
-
84857647499
-
Standardizing immunophenotyping for the Human Immunology Project
-
Maecker H.T., McCoy J.P., Nussenblatt R. Standardizing immunophenotyping for the Human Immunology Project. Nat Rev 2012, 12(3):191-200.
-
(2012)
Nat Rev
, vol.12
, Issue.3
, pp. 191-200
-
-
Maecker, H.T.1
McCoy, J.P.2
Nussenblatt, R.3
-
127
-
-
34249881902
-
Thymic extension in the superior mediastinum in patients with thymic hyperplasia: potential cause of false-positive findings on 18F-FDG PET/CT
-
Smith C.S., Schoder H., Yeung H.W. Thymic extension in the superior mediastinum in patients with thymic hyperplasia: potential cause of false-positive findings on 18F-FDG PET/CT. Am J Roentgenol 2007, 188(6):1716-1721.
-
(2007)
Am J Roentgenol
, vol.188
, Issue.6
, pp. 1716-1721
-
-
Smith, C.S.1
Schoder, H.2
Yeung, H.W.3
-
128
-
-
84866739076
-
Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency
-
Heimall J., Keller M., Saltzman R., Bunin N., McDonald-McGinn D., Zakai E., et al. Diagnosis of 22q11.2 deletion syndrome and artemis deficiency in two children with T-B-NK+ immunodeficiency. J Clin Immunol 2012, 32(5):1141-1144.
-
(2012)
J Clin Immunol
, vol.32
, Issue.5
, pp. 1141-1144
-
-
Heimall, J.1
Keller, M.2
Saltzman, R.3
Bunin, N.4
McDonald-McGinn, D.5
Zakai, E.6
-
129
-
-
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. J Allergy Clin Immunol 2004, 113(4):734-741.
-
(2004)
J Allergy Clin Immunol
, vol.113
, Issue.4
, 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
-
130
-
-
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(1):93-97.
-
(2003)
Immunol Lett
, vol.86
, Issue.1
, pp. 93-97
-
-
Pirovano, S.1
Mazzolari, E.2
Pasic, S.3
Albertini, A.4
Notarangelo, L.D.5
Imberti, L.6
-
131
-
-
0024597014
-
Clinical and immune recovery from Omenn syndrome after bone marrow transplantation
-
Junker A.K., Chan K.W., Massing B.G. Clinical and immune recovery from Omenn syndrome after bone marrow transplantation. J Pediatr 1989, 114(4 Pt 1):596-600.
-
(1989)
J Pediatr
, vol.114
, Issue.4
, pp. 596-600
-
-
Junker, A.K.1
Chan, K.W.2
Massing, B.G.3
-
132
-
-
0033848288
-
An unusual concurrence of graft versus host disease caused by engraftment of maternal lymphocytes with DiGeorge anomaly
-
Ocejo-Vinyals J.G., Lozano M.J., Sanchez-Velasco P., Escribano de Diego J., Paz-Miguel J.E., Leyva-Cobian F. An unusual concurrence of graft versus host disease caused by engraftment of maternal lymphocytes with DiGeorge anomaly. Arch Dis Child 2000, 83(2):165-169.
-
(2000)
Arch Dis Child
, vol.83
, Issue.2
, pp. 165-169
-
-
Ocejo-Vinyals, J.G.1
Lozano, M.J.2
Sanchez-Velasco, P.3
Escribano de Diego, J.4
Paz-Miguel, J.E.5
Leyva-Cobian, F.6
-
133
-
-
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. J Cutan Pathol 2008, 35(4):380-385.
-
(2008)
J Cutan Pathol
, vol.35
, Issue.4
, pp. 380-385
-
-
Selim, M.A.1
Markert, M.L.2
Burchette, J.L.3
Herman, C.M.4
Turner, J.W.5
-
134
-
-
69849094256
-
Thymus transplantation in complete DiGeorge anomaly
-
Markert M.L., Devlin B.H., Chinn I.K., McCarthy E.A. Thymus transplantation in complete DiGeorge anomaly. Immunol Res 2009, 44(1-3):61-70.
-
(2009)
Immunol Res
, vol.44
, Issue.1-3
, pp. 61-70
-
-
Markert, M.L.1
Devlin, B.H.2
Chinn, I.K.3
McCarthy, E.A.4
-
135
-
-
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(1):2-6.
-
(2013)
Pediatr Int
, vol.55
, Issue.1
, pp. 2-6
-
-
Vu, Q.V.1
Wada, T.2
Toma, T.3
Tajima, H.4
Maeda, M.5
Tanaka, R.6
-
136
-
-
82555169535
-
Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers
-
Knutsen A.P., Baker M.W., Markert M.L. Interpreting low T-cell receptor excision circles in newborns with DiGeorge anomaly: importance of assessing naive T-cell markers. J Allergy Clin Immunol 2011, 128(6):1375-1376.
-
(2011)
J Allergy Clin Immunol
, vol.128
, Issue.6
, pp. 1375-1376
-
-
Knutsen, A.P.1
Baker, M.W.2
Markert, M.L.3
-
137
-
-
0029151334
-
Humoral immunity in DiGeorge syndrome
-
Junker A.K., Driscoll D.A. Humoral immunity in DiGeorge syndrome. J Pediatr 1995, 127(2):231-237.
-
(1995)
J Pediatr
, vol.127
, Issue.2
, pp. 231-237
-
-
Junker, A.K.1
Driscoll, D.A.2
-
138
-
-
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(4):e325.
-
(2003)
Pediatrics
, vol.112
, Issue.4
, pp. e325
-
-
Perez, E.E.1
Bokszczanin, A.2
McDonald-McGinn, D.3
Zackai, E.H.4
Sullivan, K.E.5
-
139
-
-
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(1):106-112.
-
(2004)
Clin Immunol
, vol.112
, Issue.1
, pp. 106-112
-
-
Moylett, E.H.1
Wasan, A.N.2
Noroski, L.M.3
Shearer, W.T.4
-
140
-
-
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(14):1668-1671.
-
(2005)
Vaccine
, vol.23
, Issue.14
, pp. 1668-1671
-
-
Azzari, C.1
Gambineri, E.2
Resti, M.3
Moriondo, M.4
Betti, L.5
Saldias, L.R.6
-
141
-
-
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(6):519-520.
-
(2007)
Arch Dis Child
, vol.92
, Issue.6
, pp. 519-520
-
-
Waters, V.1
Peterson, K.S.2
LaRussa, P.3
-
142
-
-
0003523818
-
-
American Academy of Pediatrics, Elk Grove Village, IL, L.K. Pickering (Ed.)
-
Red Book: A Report of the Committee on Infectious Diseases 1994, American Academy of Pediatrics, Elk Grove Village, IL. L.K. Pickering (Ed.).
-
(1994)
Red Book: A Report of the Committee on Infectious Diseases
-
-
|