-
1
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
L.D. Botto, K. May, P.M. Fernhoff, A. Correa, K. Coleman, and S.A. Rasmussen et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population Pediatrics 112 2003 101 107
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
Correa, A.4
Coleman, K.5
Rasmussen, S.A.6
-
2
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in Western Sweden
-
S. Oskarsdottir, M. Vujic, and A. Fasth Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden Arch Dis Child 89 2004 148 151
-
(2004)
Arch Dis Child
, vol.89
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fasth, A.3
-
3
-
-
44149115417
-
Velo-cardio-facial syndrome: 30 years of study
-
R.J. Shprintzen Velo-cardio-facial syndrome: 30 years of study Dev Disabil Res Rev 14 2008 3 10
-
(2008)
Dev Disabil Res Rev
, vol.14
, pp. 3-10
-
-
Shprintzen, R.J.1
-
4
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
A.K. Ryan, J.A. Goodship, D.I. Wilson, N. Philip, A. Levy, and H. Seidel et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study J Med Genet 34 1997 798 804
-
(1997)
J Med 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
-
5
-
-
0033033492
-
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
-
D.M. McDonald-McGinn, R. Kirschner, E. Goldmuntz, K. Sullivan, P. Eicher, and M. Gerdes et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients Genet Couns 10 1999 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
-
6
-
-
0032609084
-
Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience
-
G. Vantrappen, K. Devriendt, A. Swillen, N. Rommel, A. Vogels, and B. Eyskens et al. Presenting symptoms and clinical features in 130 patients with the velo-cardio-facial syndrome. The Leuven experience Genet Couns 10 1999 3 9
-
(1999)
Genet Couns
, vol.10
, pp. 3-9
-
-
Vantrappen, G.1
Devriendt, K.2
Swillen, A.3
Rommel, N.4
Vogels, A.5
Eyskens, B.6
-
7
-
-
0031659846
-
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
-
R. Matsuoka, M. Kimura, P.J. Scambler, B.E. Morrow, S. Imamura, and S. Minoshima et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome Hum Genet 103 1998 70 80
-
(1998)
Hum Genet
, vol.103
, pp. 70-80
-
-
Matsuoka, R.1
Kimura, M.2
Scambler, P.J.3
Morrow, B.E.4
Imamura, S.5
Minoshima, S.6
-
8
-
-
22144493861
-
Defining the clinical spectrum of deletion 22q11.2
-
N.H. Robin, and R.J. Shprintzen Defining the clinical spectrum of deletion 22q11.2 J Pediatr 147 2005 90 96
-
(2005)
J Pediatr
, vol.147
, pp. 90-96
-
-
Robin, N.H.1
Shprintzen, R.J.2
-
9
-
-
35348822545
-
Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes
-
L.J. Kobrynski, and K.E. Sullivan Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes Lancet 370 2007 1443 1452
-
(2007)
Lancet
, vol.370
, pp. 1443-1452
-
-
Kobrynski, L.J.1
Sullivan, K.E.2
-
10
-
-
15944413776
-
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
-
M.C. Digilio, B. Marino, R. Capolino, A. Angioni, A. Sarkozy, and M.C. Roberti et al. Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2 Am J Med Genet A 134A 2005 158 164
-
(2005)
Am J Med Genet A
, vol.134 A
, pp. 158-164
-
-
Digilio, M.C.1
Marino, B.2
Capolino, R.3
Angioni, A.4
Sarkozy, A.5
Roberti, M.C.6
-
11
-
-
33645412998
-
FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities
-
T. Yakut, S.S. Kilic, E. Cil, E. Yapici, and U. Egeli FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities Pediatr Surg Int 22 2006 380 383
-
(2006)
Pediatr Surg Int
, vol.22
, pp. 380-383
-
-
Yakut, T.1
Kilic, S.S.2
Cil, E.3
Yapici, E.4
Egeli, U.5
-
12
-
-
17644421861
-
Presenting phenotype in 100 children with the 22q11 deletion syndrome
-
S. Oskarsdottir, C. Persson, B.O. Eriksson, and A. Fasth Presenting phenotype in 100 children with the 22q11 deletion syndrome Eur J Pediatr 164 2005 146 153
-
(2005)
Eur J Pediatr
, vol.164
, pp. 146-153
-
-
Oskarsdottir, S.1
Persson, C.2
Eriksson, B.O.3
Fasth, A.4
-
13
-
-
0033041096
-
Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11
-
B. Marino, M.C. Digilio, A. Toscano, A. Giannotti, and B. Dallapiccola Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and del22q11 Genet Couns 10 1999 25 33
-
(1999)
Genet Couns
, vol.10
, pp. 25-33
-
-
Marino, B.1
Digilio, M.C.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
14
-
-
77952328830
-
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
-
K. Momma Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome Am J Cardiol 105 2010 1617 1624
-
(2010)
Am J Cardiol
, vol.105
, pp. 1617-1624
-
-
Momma, K.1
-
15
-
-
0042632658
-
Spectrum of clinical variability in familial deletion 22q11.2: From full manifestation to extremely mild clinical anomalies
-
M.C. Digilio, A. Angioni, M. De Santis, A. Lombardo, A. Giannotti, and B. Dallapiccola et al. Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies Clin Genet 63 2003 308 313
-
(2003)
Clin Genet
, vol.63
, pp. 308-313
-
-
Digilio, M.C.1
Angioni, A.2
De Santis, M.3
Lombardo, A.4
Giannotti, A.5
Dallapiccola, B.6
-
17
-
-
79960444931
-
Practical guidelines for managing patients with 22q11.2 deletion syndrome
-
e1
-
A.S. Bassett, D.M. McDonald-McGinn, K. Devriendt, M.C. Digilio, P. Goldenberg, and A. Habel et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome J Pediatr 159 2011 332 339 e1
-
(2011)
J Pediatr
, vol.159
, pp. 332-339
-
-
Bassett, A.S.1
McDonald-Mcginn, D.M.2
Devriendt, K.3
Digilio, M.C.4
Goldenberg, P.5
Habel, A.6
-
18
-
-
45749139341
-
Collection and transfer of data: The AIEOP model
-
A. Pession, and R. Rondelli Collection and transfer of data: the AIEOP model Bone Marrow Transplant 41 Suppl 2 2008 S35 S38
-
(2008)
Bone Marrow Transplant
, vol.41
, Issue.SUPPL. 2
-
-
Pession, A.1
Rondelli, R.2
-
19
-
-
33845382806
-
Non parametric estimation from incomplete observations
-
E.L.M.P. Kaplan Non parametric estimation from incomplete observations J Am Stat Assoc 53 1958 457 481
-
(1958)
J Am Stat Assoc
, vol.53
, pp. 457-481
-
-
Kaplan, E.L.M.P.1
-
21
-
-
0345862009
-
Independent de novo 22q11. 2 deletions in first cousins with DiGeorge/velocardiofacial syndrome
-
S.C. Saitta, S.E. Harris, D.M. McDonald-McGinn, B.S. Emanuel, M.K. Tonnesen, and E.H. Zackai et al. Independent de novo 22q11. 2 deletions in first cousins with DiGeorge/velocardiofacial syndrome Am J Med Genet A 124A 2004 313 317
-
(2004)
Am J Med Genet A
, vol.124 A
, pp. 313-317
-
-
Saitta, S.C.1
Harris, S.E.2
McDonald-Mcginn, D.M.3
Emanuel, B.S.4
Tonnesen, M.K.5
Zackai, E.H.6
-
22
-
-
0036590315
-
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
-
P. Sandrin-Garcia, C. Macedo, L.R. Martelli, E.S. Ramos, M.L. Guion-Almeida, and A. Richieri-Costa et al. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome Clin Genet 61 2002 380 383
-
(2002)
Clin Genet
, vol.61
, pp. 380-383
-
-
Sandrin-Garcia, P.1
Macedo, C.2
Martelli, L.R.3
Ramos, E.S.4
Guion-Almeida, M.L.5
Richieri-Costa, A.6
-
23
-
-
0032581132
-
Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11
-
E. Hatchwell, F. Long, J. Wilde, J. Crolla, and K. Temple Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11 Am J Med Genet 78 1998 103 106
-
(1998)
Am J Med Genet
, vol.78
, pp. 103-106
-
-
Hatchwell, E.1
Long, F.2
Wilde, J.3
Crolla, J.4
Temple, K.5
-
24
-
-
77955394161
-
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11)
-
S. Stagi, E. Lapi, E. Gambineri, C. Manoni, M. Genuardi, and G. Colarusso et al. Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) Eur J Endocrinol 163 2010 329 337
-
(2010)
Eur J Endocrinol
, vol.163
, pp. 329-337
-
-
Stagi, S.1
Lapi, E.2
Gambineri, E.3
Manoni, C.4
Genuardi, M.5
Colarusso, G.6
-
26
-
-
70449409183
-
Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients
-
G.M. Repetto, M.L. Guzman, A. Puga, J.F. Calderon, C.P. Astete, and M. Aracena et al. Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients Clin Genet 76 2009 465 470
-
(2009)
Clin Genet
, vol.76
, pp. 465-470
-
-
Repetto, G.M.1
Guzman, M.L.2
Puga, A.3
Calderon, J.F.4
Astete, C.P.5
Aracena, M.6
-
27
-
-
0037006412
-
Schizophrenia and velo-cardio-facial syndrome
-
K.C. Murphy Schizophrenia and velo-cardio-facial syndrome Lancet 359 2002 426 430
-
(2002)
Lancet
, vol.359
, pp. 426-430
-
-
Murphy, K.C.1
-
29
-
-
0034096320
-
Velo-cardio-facial syndrome: A distinctive behavioral phenotype
-
R.J. Shprintzen Velo-cardio-facial syndrome: a distinctive behavioral phenotype Ment Retard Dev Disabil Res Rev 6 2000 142 147
-
(2000)
Ment Retard Dev Disabil Res Rev
, vol.6
, pp. 142-147
-
-
Shprintzen, R.J.1
-
30
-
-
84867857270
-
Immunoglobulin deficiencies: The B-lymphocyte side of DiGeorge syndrome
-
e1
-
K. Patel, J. Akhter, L. Kobrynski, B. Gathman, O. Davis, and K.E. Sullivan Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge syndrome J Pediatr 161 2012 950 953 e1
-
(2012)
J Pediatr
, vol.161
, pp. 950-953
-
-
Patel, K.1
Akhter, J.2
Kobrynski, L.3
Gathman, B.4
Davis, O.5
Sullivan, K.E.6
-
31
-
-
0030951648
-
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)
-
K.E. Sullivan, D.M. McDonald-McGinn, D.A. Driscoll, C.M. Zmijewski, A.S. Ellabban, and L. Reed et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome) Arthritis Rheum 40 1997 430 436
-
(1997)
Arthritis Rheum
, vol.40
, 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
-
32
-
-
0030715081
-
Recurrent immune cytopenias in two patients with DiGeorge/ velocardiofacial syndrome
-
A.D. DePiero, E.M. Lourie, B.W. Berman, N.H. Robin, A.B. Zinn, and R.W. Hostoffer Recurrent immune cytopenias in two patients with DiGeorge/ velocardiofacial syndrome J Pediatr 131 1997 484 486
-
(1997)
J Pediatr
, 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
-
33
-
-
0034790618
-
Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome
-
K. Davies, E.R. Stiehm, P. Woo, and K.J. Murray Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22q11 deletion syndrome J Rheumatol 28 2001 2326 2334
-
(2001)
J Rheumatol
, vol.28
, pp. 2326-2334
-
-
Davies, K.1
Stiehm, E.R.2
Woo, P.3
Murray, K.J.4
-
34
-
-
0036260179
-
Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome
-
A.R. Gennery, D. Barge, J.J. O'Sullivan, T.J. Flood, M. Abinun, and A.J. Cant Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome Arch Dis Child 86 2002 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
-
35
-
-
0036896149
-
Chronic arthritis associated with chromosome deletion 22q11.2 syndrome
-
P. Pelkonen, P. Lahdenne, R. Lantto, and V. Honkanen Chronic arthritis associated with chromosome deletion 22q11.2 syndrome J Rheumatol 29 2002 2648 2650
-
(2002)
J Rheumatol
, vol.29
, pp. 2648-2650
-
-
Pelkonen, P.1
Lahdenne, P.2
Lantto, R.3
Honkanen, V.4
-
37
-
-
33746386912
-
Chronic arthritis without uveitis in velocardiofacial syndrome
-
R.Q. Cron, and K.E. Sullivan Chronic arthritis without uveitis in velocardiofacial syndrome J Pediatr 149 2006 281
-
(2006)
J Pediatr
, vol.149
, pp. 281
-
-
Cron, R.Q.1
Sullivan, K.E.2
-
38
-
-
80055067172
-
Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome
-
1115-7.e1-3
-
B.E. Tison, S.K. Nicholas, S.L. Abramson, I.C. Hanson, M.E. Paul, and F.O. Seeborg et al. Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome J Allergy Clin Immunol 128 2011 1115-7.e1-3
-
(2011)
J Allergy Clin Immunol
, vol.128
-
-
Tison, B.E.1
Nicholas, S.K.2
Abramson, S.L.3
Hanson, I.C.4
Paul, M.E.5
Seeborg, F.O.6
-
39
-
-
58149289799
-
Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome
-
P. Eberle, C. Berger, S. Junge, S. Dougoud, E.V. Buchel, and M. Riegel et al. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome Clin Exp Immunol 155 2009 189 198
-
(2009)
Clin Exp Immunol
, vol.155
, pp. 189-198
-
-
Eberle, P.1
Berger, C.2
Junge, S.3
Dougoud, S.4
Buchel, E.V.5
Riegel, M.6
|