-
1
-
-
0033380870
-
A typical deletions suggest five 22ql 1.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome
-
Amati F, Conti E, Novelli A, Bengala M, Digilio MC, Marino B, Giannoti A, Gabrielli O, Novelli G, Dallapiccola B (1999) A typical deletions suggest five 22ql 1.2 critical regions related to the DiGeorge/velo-cardio-facial syndrome. Eur J Hum Genet 7:903-909.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 903-909
-
-
Amati, F.1
Conti, E.2
Novelli, A.3
Bengala, M.4
Digilio, M.C.5
Marino, B.6
Giannoti, A.7
Gabrielli, O.8
Novelli, G.9
Dallapiccola, B.10
-
2
-
-
21344471660
-
COMT Vail08/158 Met modifies mismatch negativity and cognitive function in 22ql 1 deletion syndrome
-
Baker K, Baldeweg T, Sivagnanasundaram S, Scambler P, Skuse D (2005) COMT Vail08/158 Met modifies mismatch negativity and cognitive function in 22ql 1 deletion syndrome. Biol Psy-chiatry 58:23-31.
-
(2005)
Biol Psy-chiatry
, vol.58
, pp. 23-31
-
-
Baker, K.1
Baldeweg, T.2
Sivagnanasundaram, S.3
Scambler, P.4
Skuse, D.5
-
3
-
-
19444371444
-
Dissecting contiguous gene defects: TBX1
-
Baldini A (2005) Dissecting contiguous gene defects: TBX1. Curr Opin Genet Dev 15:279-284.
-
(2005)
Curr Opin Genet Dev
, vol.15
, pp. 279-284
-
-
Baldini, A.1
-
4
-
-
0642371334
-
Investigation of white matter structure in velocardiofacial syndrome: A diffusion tensor imaging study
-
Barnea-Goraly N, Menon V, Krasnow B, Ko A, Reiss A, Eliez S (2003) Investigation of white matter structure in velocardiofacial syndrome: A diffusion tensor imaging study. Am J Psychiatry 160:1863-1869.
-
(2003)
Am J Psychiatry
, vol.160
, pp. 1863-1869
-
-
Barnea-Goraly, N.1
Menon, V.2
Krasnow, B.3
Ko, A.4
Reiss, A.5
Eliez, S.6
-
6
-
-
0346322914
-
The schizophrenia phenotype in 22qll deletion syndrome
-
Bassett AS, Chow EWC, AbdeMalik P, Gheorghiu M, Husted J, Weksberg R (2003) The schizophrenia phenotype in 22qll deletion syndrome. Am J Psychiatry 160:1580-1586.
-
(2003)
Am J Psychiatry
, vol.160
, pp. 1580-1586
-
-
Bassett, A.S.1
Chow, E.W.C.2
AbdeMalik, P.3
Gheorghiu, M.4
Husted, J.5
Weksberg, R.6
-
7
-
-
27444447025
-
Clinical features of 78 adults with 22qll deletion syndrome
-
Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22qll deletion syndrome. Am J Med Genet 138:307-313.
-
(2005)
Am J Med Genet
, 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
Gatzoulis, M.A.7
-
8
-
-
2942709617
-
Non-random asynchronous replication at 22q 11.2 favours unequal meiotic crossovers leading to the human 22ql 1.2 deletion
-
Baumer A, Riegel M, Schinzel A (2004) Non-random asynchronous replication at 22q 11.2 favours unequal meiotic crossovers leading to the human 22ql 1.2 deletion. J Med Genet AY. 413-420.
-
(2004)
J Med Genet AY
, pp. 413-420
-
-
Baumer, A.1
Riegel, M.2
Schinzel, A.3
-
9
-
-
0032511756
-
Letter to the Editor: Seven new cases of Cayler cardiofacial syndrome with chromosome 22qll.2 deletion, including a familial case
-
Bawle EV, Conard J, Van Dyke DL, Czarnecki P, Driscoll DA (1998) Letter to the Editor: Seven new cases of Cayler cardiofacial syndrome with chromosome 22qll.2 deletion, including a familial case. Am J Med Genet 79:406-410.
-
(1998)
Am J Med Genet
, vol.79
, pp. 406-410
-
-
Bawle, E.V.1
Conard, J.2
Van Dyke, D.L.3
Czarnecki, P.4
Driscoll, D.A.5
-
10
-
-
0034873653
-
The neurocognitive phenotype of the 22qll.2 deletion syndrome: Selective deficit in visual-spatial memory
-
Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, Emanuel B, Cannon TD (2001) The neurocognitive phenotype of the 22qll.2 deletion syndrome: Selective deficit in visual-spatial memory. J Clin Exp Neurop-sychol 23:447-164.
-
(2001)
J Clin Exp Neurop-sychol
, vol.23
, pp. 447-164
-
-
Bearden, C.E.1
Woodin, M.F.2
Wang, P.P.3
Moss, E.4
McDonald-McGinn, D.5
Zackai, E.6
Emanuel, B.7
Cannon, T.D.8
-
11
-
-
7244229690
-
Regional brain abnormalities in 22ql 1.2 deletion syndrome: Association with cognitive abilities and behavioral symptoms
-
Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, Hill NM, McDonald-McGinn DM, Zackai E, Emanuel BS, Cannon TD (2004) Regional brain abnormalities in 22ql 1.2 deletion syndrome: Association with cognitive abilities and behavioral symptoms. Neurocase 10:198-206.
-
(2004)
Neurocase
, vol.10
, pp. 198-206
-
-
Bearden, C.E.1
van Erp, T.G.2
Monterosso, J.R.3
Simon, T.J.4
Glahn, D.C.5
Saleh, P.A.6
Hill, N.M.7
McDonald-McGinn, D.M.8
Zackai, E.9
Emanuel, B.S.10
Cannon, T.D.11
-
12
-
-
13544259700
-
Prevalence and clinical manifestations of 22qll.2 microdeletion in adults with selected conotruncal anomalies
-
Beauchesne LM, Warnes CA, Connolly HM, Ammash NM, Grogan M, Jala SM, Michels VV (2005) Prevalence and clinical manifestations of 22qll.2 microdeletion in adults with selected conotruncal anomalies. J Am Coll Cardiol 45: 595-598.
-
(2005)
J Am Coll Cardiol
, vol.45
, pp. 595-598
-
-
Beauchesne, L.M.1
Warnes, C.A.2
Connolly, H.M.3
Ammash, N.M.4
Grogan, M.5
Jala, S.M.6
Michels, V.V.7
-
13
-
-
41849103828
-
Sclerocornea associ-ated with teh chromosome 22qll.2 deletion syndrome
-
Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ (2008) Sclerocornea associ-ated with teh chromosome 22qll.2 deletion syndrome. Am J Med Genet A 146:904-909.
-
(2008)
Am J Med Genet A
, vol.146
, pp. 904-909
-
-
Binenbaum, G.1
McDonald-McGinn, D.M.2
Zackai, E.H.3
Walker, B.M.4
Coleman, K.5
Mach, A.M.6
Adam, M.7
Manning, M.8
Alcorn, D.M.9
Zabel, C.10
Anderson, D.R.11
Forbes, B.J.12
-
14
-
-
0030828882
-
Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22qll
-
Bingham P, Zimmerman RA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH (1997) Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22qll. Am J Med Genet Neuropsychol Genet 74:538-543.
-
(1997)
Am J Med Genet Neuropsychol Genet
, vol.74
, pp. 538-543
-
-
Bingham, P.1
Zimmerman, R.A.2
McDonald-McGinn, D.M.3
Driscoll, D.A.4
Emanuel, B.S.5
Zackai, E.H.6
-
15
-
-
3142720255
-
Thalamic reductions in children with chromosome 22ql 1.2 deletion syndrome
-
Bish JP, Nguyen V, Ding L, Ferrante S, Simon TJ (2004) Thalamic reductions in children with chromosome 22ql 1.2 deletion syndrome. Neuroreport 15:1413-5141.
-
(2004)
Neuroreport
, vol.15
, pp. 1413-5141
-
-
Bish, J.P.1
Nguyen, V.2
Ding, L.3
Ferrante, S.4
Simon, T.J.5
-
16
-
-
18344399528
-
The different types of sclerocornea, their hereditary modes and concomitant congenital malformations
-
Bloch N (1965) The different types of sclerocornea, their hereditary modes and concomitant congenital malformations. J Hum Genet 14:133-172.
-
(1965)
J Hum Genet
, vol.14
, pp. 133-172
-
-
Bloch, N.1
-
17
-
-
0038419517
-
A population-based study of the 22ql 1.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
Botto LD, May K, Fernhoff PM, Correa A (2003) A population-based study of the 22ql 1.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101-107.
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
Correa, A.4
-
18
-
-
0028926898
-
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velocardio-facial chromosomal region in 22ql 1
-
Budarf ML, Konkle BA, Ludlow LB, Michaud D, Li M, Yamashiro DJ, McDonald-McGinn D, Zackai EH, Driscoll DA (1995) Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/Velocardio-facial chromosomal region in 22ql 1. Hum Mol Genet 4:163-166.
-
(1995)
Hum Mol Genet
, vol.4
-
-
Budarf, M.L.1
Konkle, B.A.2
Ludlow, L.B.3
Michaud, D.4
Li, M.5
Yamashiro, D.J.6
McDonald-McGinn, D.7
Zackai, E.H.8
Driscoll, D.A.9
-
19
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22
-
Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (1993) Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J Med Genet 30:822-824.
-
(1993)
J Med Genet
, vol.30
, pp. 822-824
-
-
Burn, J.1
Takao, A.2
Wilson, D.3
Cross, I.4
Momma, K.5
Wadey, R.6
Scambler, P.7
Goodship, J.8
-
20
-
-
84927009421
-
The cognitive spectrum in velo-cardio-facial syndrome
-
In: Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Murphy KC, Scambler PJ, eds, Cambridge, UK: Cambridge University Press
-
Campbell LE, Swillen A, (2005) The cognitive spectrum in velo-cardio-facial syndrome. In: Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Murphy KC, Scambler PJ, eds, Cambridge, UK: Cambridge University Press, pp. 147-164.
-
(2005)
, pp. 147-164
-
-
Campbell, L.E.1
Swillen, A.2
-
21
-
-
0023514266
-
The Opitz syndrome: A new designation for the clinically indistinguishable BBB and G syndromes
-
Cappa M, Borrelli P, Marini R, Neri G (1987) The Opitz syndrome: A new designation for the clinically indistinguishable BBB and G syndromes. Am J Med Genet 28:303-309.
-
(1987)
Am J Med Genet
, vol.28
, pp. 303-309
-
-
Cappa, M.1
Borrelli, P.2
Marini, R.3
Neri, G.4
-
22
-
-
0026688328
-
Molecular genetic study of the frequency of monosomy 22qll in DiGeorge syndrome
-
Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J (1992) Molecular genetic study of the frequency of monosomy 22qll in DiGeorge syndrome. Am J Hum Genet 51:964-970.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 964-970
-
-
Carey, A.H.1
Kelly, D.2
Halford, S.3
Wadey, R.4
Wilson, D.5
Goodship, J.6
Burn, J.7
Paul, T.8
Sharkey, A.9
Dumanski, J.10
-
23
-
-
25644454373
-
Unilateral Peters' anomaly in a patient with DiGeorge syndrome
-
Casteels I, Devriendt K (2005) Unilateral Peters' anomaly in a patient with DiGeorge syndrome. J Pediatr Ophthalmol Strabis-mus 42:311-313.
-
(2005)
J Pediatr Ophthalmol Strabis-mus
, vol.42
, pp. 311-313
-
-
Casteels, I.1
Devriendt, K.2
-
24
-
-
0014471310
-
Cardiofacial syndrome.Congenital heart disease and facial weakness, a hitherto unrecognized association
-
Cayler GG (1969) Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 44:69-75.
-
(1969)
Arch Dis Child
, vol.44
, pp. 69-75
-
-
Cayler, G.G.1
-
25
-
-
0028290441
-
Velo-cardio-facial syndrome and psychotic disorders: Implications for psychiatric genetics
-
Chow EW, Bassett AS, Weksberg R (1994) Velo-cardio-facial syndrome and psychotic disorders: Implications for psychiatric genetics. Am J Med Genet 54:107-112.
-
(1994)
Am J Med Genet
, vol.54
, pp. 107-112
-
-
Chow, E.W.1
Bassett, A.S.2
Weksberg, R.3
-
27
-
-
0029952699
-
Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome
-
ConsevageMW,SeipJR,BelchisDA,DavisAT,BaylenBG,RoganPK (1996) Association of a mosaic chromosomal 22q 11 deletion with hypoplastic left heart syndrome. Am J Cardiol 77: 1023-1025.
-
(1996)
Am J Cardiol
, vol.77
, pp. 1023-1025
-
-
Consevage, M.W.1
Seip, J.R.2
Belchis, D.A.3
Davis, A.T.4
Baylen, B.G.5
Rogan, P.K.6
-
28
-
-
0028840184
-
Upper limb malformations in DiGeorge syndrome
-
Cormier-Daire V, Iserin L, Theophile D, Sidi D, Vervel C, Padovani JP, Vekemans M, Munnich A, Lyonnet S (1995) Upper limb malformations in DiGeorge syndrome. Am J Med Genet 56:39-41.
-
(1995)
Am J Med Genet
, vol.56
, pp. 39-41
-
-
Cormier-Daire, V.1
Iserin, L.2
Theophile, D.3
Sidi, D.4
Vervel, C.5
Padovani, J.P.6
Vekemans, M.7
Munnich, A.8
Lyonnet, S.9
-
29
-
-
0034839553
-
Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS
-
D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA (2001) Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS. Cleft Palate Craniofac J 38:455-467.
-
(2001)
Cleft Palate Craniofac J
, vol.38
, pp. 455-467
-
-
D'Antonio, L.L.1
Scherer, N.J.2
Miller, L.L.3
Kalbfleisch, J.H.4
Bartley, J.A.5
-
30
-
-
0034790618
-
Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22ql 1 deletion syndrome
-
Davies K, Stiehm ER, Woo P, Murray KJ (2001) Juvenile idiopathic polyarticular arthritis and IgA deficiency in the 22ql 1 deletion syndrome. J Rheumatol 28:2326-2334.
-
(2001)
J Rheumatol
, vol.28
, pp. 2326-2334
-
-
Davies, K.1
Stiehm, E.R.2
Woo, P.3
Murray, K.J.4
-
32
-
-
0030715081
-
Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome
-
DePiero AD, Lourie EM, Berman BW, Robin NH, Zinn AB, Hostoffer RW (1997) Recurrent immune cytopenias in two patients with DiGeorge/velocardiofacial syndrome. J Pediatr 131:484-86.
-
(1997)
J Pediatr
, vol.131
, pp. 484-86
-
-
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
-
-
0027461868
-
Routine diagnosis of DiGeorge by fluorescence in situ hybridization
-
Desmaze C, Scambler P, Prieur M, Halford S, Sidi D, LeDeist F, Aurias A (1993) Routine diagnosis of DiGeorge by fluorescence in situ hybridization. Hum Genet 90:663-665.
-
(1993)
Hum Genet
, vol.90
, pp. 663-665
-
-
Desmaze, C.1
Scambler, P.2
Prieur, M.3
Halford, S.4
Sidi, D.5
LeDeist, F.6
Aurias, A.7
-
34
-
-
0037245285
-
Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q 11. 2) of borderline or normal intelligence
-
DeSmedt B, Swillen A, Ghesquiere P, Devriendt K, Fryns JP (2003) Pre-academic and early academic achievement in children with velocardiofacial syndrome (del22q 11.2) of borderline or normal intelligence. Genet Couns 14:15-29.
-
(2003)
Genet Couns
, vol.14
, pp. 15-29
-
-
DeSmedt, B.1
Swillen, A.2
Ghesquiere, P.3
Devriendt, K.4
Fryns, J.P.5
-
35
-
-
0029989445
-
Renal and urological tract malformations caused by a 22ql 1 deletion
-
Devriendt K, Swillen A, Fryns JP, Proesmans W, Gewillig M (1996) Renal and urological tract malformations caused by a 22ql 1 deletion. J Med Genet 33:349.
-
(1996)
J Med Genet
, vol.33
, pp. 349
-
-
Devriendt, K.1
Swillen, A.2
Fryns, J.P.3
Proesmans, W.4
Gewillig, M.5
-
38
-
-
0030726834
-
Radial aplasia and chromosome 22qll deletion
-
Diglio MC, Giannotti A, Marino B, Guadagni AM, Orzalesi M, Dallapiccola B (1997) Radial aplasia and chromosome 22qll deletion. J Med Genet 34:942-944.
-
(1997)
J Med Genet
, vol.34
, pp. 942-944
-
-
Diglio, M.C.1
Giannotti, A.2
Marino, B.3
Guadagni, A.M.4
Orzalesi, M.5
Dallapiccola, B.6
-
39
-
-
0026750771
-
A genetic etiology for DiGeorge syndrome: Consistent deletions and microdele-tions of 22q 1 f
-
Driscoll DA, Budarf ML, Emanuel BS (1992a) A genetic etiology for DiGeorge syndrome: Consistent deletions and microdele-tions of 22q 1 f. Am J Hum Genet 50:924-933.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 924-933
-
-
Driscoll, D.A.1
Budarf, M.L.2
Emanuel, B.S.3
-
40
-
-
0026662962
-
Deletions and microdeletions of 22q 11.2 in velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC, Mascarello JT, Emanuel BS (1992b) Deletions and microdeletions of 22q 11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268.
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
McDonald-McGinn, D.M.4
Zackai, E.H.5
Goldberg, R.B.6
Shprintzen, R.J.7
Saal, H.M.8
Zonana, J.9
Jones, M.C.10
Mascarello, J.T.11
Emanuel, B.S.12
-
41
-
-
0027370619
-
Prevalence of 22ql 1 microdeletions in DGS and VCFS: Implications for genetic counseling and prena-tal diagnosis
-
Driscoll DA, Salvin J, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS (1993) Prevalence of 22ql 1 microdeletions in DGS and VCFS: Implications for genetic counseling and prena-tal diagnosis. J Med Genet 30:813-817.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
McDonald-McGinn, D.4
Zackai, E.H.5
Emanuel, B.S.6
-
43
-
-
0036897149
-
Otolaryngologic manifestations of the 22ql 1.2 deletion syndrome
-
Dyce O, McDonald-McGinn D, Kirschner RE, Zackai E, Young K, Jacobs IN (2002) Otolaryngologic manifestations of the 22ql 1.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 128:1408-1412.
-
(2002)
Arch Otolaryngol Head Neck Surg
, vol.128
, pp. 1408-1412
-
-
Dyce, O.1
McDonald-McGinn, D.2
Kirschner, R.E.3
Zackai, E.4
Young, K.5
Jacobs, I.N.6
-
44
-
-
0033358588
-
Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
-
Edelman L, Pandita RK, Morrow BE (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet 64:1076-1086.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1076-1086
-
-
Edelman, L.1
Pandita, R.K.2
Morrow, B.E.3
-
45
-
-
0033837728
-
Dysphagia in children with a 22ql 1.2 deletion: Unusual pattern found on modified barium swallow
-
Eicher PS, McDonald-McGinn DM, Fox CA, Driscoll DA, Emanuel BS, Zackai EH (2000) Dysphagia in children with a 22ql 1.2 deletion: Unusual pattern found on modified barium swallow. J Pediatr 137:158-164.
-
(2000)
J Pediatr
, vol.137
, pp. 158-164
-
-
Eicher, P.S.1
McDonald-McGinn, D.M.2
Fox, C.A.3
Driscoll, D.A.4
Emanuel, B.S.5
Zackai, E.H.6
-
46
-
-
0343952988
-
Young children with velo-cardio-facial syn-drome (CATCH-22). Psychological and language phenotypes
-
Eliez S, Palacio-Espasa F, Spira A, Lacroix M, Pont C, Luthi F, Robert-Tissot C, Feinstein C, Schorderet DF, Antonarakis SE, Cramer B (2000) Young children with velo-cardio-facial syn-drome (CATCH-22). Psychological and language phenotypes. Eur Child Adolesc Psychiatry 9:109-114.
-
(2000)
Eur Child Adolesc Psychiatry
, vol.9
, pp. 109-114
-
-
Eliez, S.1
Palacio-Espasa, F.2
Spira, A.3
Lacroix, M.4
Pont, C.5
Luthi, F.6
Robert-Tissot, C.7
Feinstein, C.8
Schorderet, D.F.9
Antonarakis, S.E.10
Cramer, B.11
-
47
-
-
0002184364
-
Blocks of duplicated sequence define the endpoints of DGS/VCFS 22ql 1.2 deletions
-
Emanuel BS, Budard ML, Shaikh T, Driscoll D (1998) Blocks of duplicated sequence define the endpoints of DGS/VCFS 22ql 1.2 deletions. Am J Hum Genet 63:A11.
-
(1998)
Am J Hum Genet
, vol.63
-
-
Emanuel, B.S.1
Budard, M.L.2
Shaikh, T.3
Driscoll, D.4
-
48
-
-
21644463843
-
Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22ql 1.2 deletion syndrome
-
Fernandez L, Lapunzina P, Pajares IL, Criado GR, Garcfa-Guereta L, Perez J, Quero J, Delicado A (2005) Higher frequency of uncommon 1.5-2 Mb deletions found in familial cases of 22ql 1.2 deletion syndrome. Am J Med Genet 136:71-75.
-
(2005)
Am J Med Genet
, vol.136
, pp. 71-75
-
-
Fernandez, L.1
Lapunzina, P.2
Pajares, I.L.3
Criado, G.R.4
Garcfa-Guereta, L.5
Perez, J.6
Quero, J.7
Delicado, A.8
-
49
-
-
24044515278
-
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q 11.2.7
-
Fine S, Weissman A, Gerdes M, Pinto-Martin J, Zackai E, McDo-nald-McGinn D, Emanuel B (2005) Autism spectrum disorders and symptoms in children with molecularly confirmed 22q 11.2.7 Autism Dev Disabil 35:461-170.
-
(2005)
Autism Dev Disabil
, vol.35
, pp. 461-170
-
-
Fine, S.1
Weissman, A.2
Gerdes, M.3
Pinto-Martin, J.4
Zackai, E.5
McDo-nald-McGinn, D.6
Emanuel, B.7
-
51
-
-
34047128675
-
Ocular findings in the chromosome 22ql 1.2 deletion syndrome
-
Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zachai EH (2007) Ocular findings in the chromosome 22ql 1.2 deletion syndrome. J AAPOS 11:179-182.
-
(2007)
J AAPOS
, vol.11
, pp. 179-182
-
-
Forbes, B.J.1
Binenbaum, G.2
Edmond, J.C.3
DeLarato, N.4
McDonald-McGinn, D.M.5
Zachai, E.H.6
-
52
-
-
0034011429
-
Otolaryngological manifestations of velocardiofacial syndrome: A retrospective review of 35 patients
-
Ford LC, Sulprizio SL, Rasgon BM (2000) Otolaryngological manifestations of velocardiofacial syndrome: A retrospective review of 35 patients. Laryngoscope 110:362-367.
-
(2000)
Laryngoscope
, vol.110
, pp. 362-367
-
-
Ford, L.C.1
Sulprizio, S.L.2
Rasgon, B.M.3
-
53
-
-
0019799013
-
The genetics of common familial idsorders-major genes or multifactorial
-
Fraser FC, (1980) The genetics of common familial idsorders-major genes or multifactorial? Canad J Genet Cytol 23:1-8.
-
(1980)
Canad J Genet Cytol
, vol.23
, pp. 1-8
-
-
Fraser, F.C.1
-
54
-
-
0029925662
-
Chromosome 22q 11.2 deletion in a boy with Opitz oculo-genito-laryngeal syndrome
-
Fryburg JS, Lin KY, Golden EF (1996) Chromosome 22q 11.2 deletion in a boy with Opitz oculo-genito-laryngeal syndrome. Am J Med Genet 62:274-275.
-
(1996)
Am J Med Genet
, vol.62
, pp. 274-275
-
-
Fryburg, J.S.1
Lin, K.Y.2
Golden, E.F.3
-
55
-
-
18744420597
-
A novel atypical 22q 11.2 distal deletion in father and son
-
Garcia-Minaur S, Fantes J, Murray RS, Porteous MEM, Strain L, Burns JE, Stephen J, Warner JP (2002) A novel atypical 22q 11.2 distal deletion in father and son. J Med Genet 39:1-5.
-
(2002)
J Med Genet
, vol.39
, pp. 1-5
-
-
Garcia-Minaur, S.1
Fantes, J.2
Murray, R.S.3
Porteous, M.E.M.4
Strain, L.5
Burns, J.E.6
Stephen, J.7
Warner, J.P.8
-
56
-
-
0036260179
-
Antibody deficiency and autoimmunity in 22ql 1.2 deletion syndrome
-
Gennery AR, Barge D, O'Sullivan JJ, Flood TJ, Abinun M, Cant AJ (2002) Antibody deficiency and autoimmunity in 22ql 1.2 deletion syndrome. Arch Dis Child 86:422-125.
-
(2002)
Arch Dis Child
, vol.86
, pp. 422-125
-
-
Gennery, A.R.1
Barge, D.2
O'Sullivan, J.J.3
Flood, T.J.4
Abinun, M.5
Cant, A.J.6
-
57
-
-
0033066999
-
Cognitive and behavioral profile of preschool children with chromosome 22q 11.2 microdeletion
-
Gerdes M, Solot C, Wang PP, Jawad A, DaCosta AM, LaRossa D, Randall P, Goldmuntz B, Clark BJ III, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Batshaw ML, Zackai EH (1999) Cognitive and behavioral profile of preschool children with chromosome 22q 11.2 microdeletion. Am J Med Genet 85:127-133.
-
(1999)
Am J Med Genet
, vol.85
, pp. 127-133
-
-
Gerdes, M.1
Solot, C.2
Wang, P.P.3
Jawad, A.4
DaCosta, A.M.5
LaRossa, D.6
Randall, P.7
Goldmuntz, B.8
Clark, B.J.9
Driscoll, D.A.10
Emanuel, B.S.11
McDonald-McGinn, D.M.12
Batshaw, M.L.13
Zackai, E.H.14
-
58
-
-
0000607390
-
Cayler cardiofacial syndrome and del 22ql 1: Part of the CATCH22 phenotype
-
Giannotti A, Diglio MC, Marino B, Mingarelli R, Dallapiccola B (1994) Cayler cardiofacial syndrome and del 22ql 1: Part of the CATCH22 phenotype. Am J Med Genet 30:807-812.
-
(1994)
Am J Med Genet
, vol.30
, pp. 807-812
-
-
Giannotti, A.1
Diglio, M.C.2
Marino, B.3
Mingarelli, R.4
Dallapiccola, B.5
-
59
-
-
0027400375
-
Velo-cardio-facial syndrome: A review of 120 patients
-
Goldberg R, Motzkin B, Marion R, Scambler PJ, Shprintzen RJ (1993) Velo-cardio-facial syndrome: A review of 120 patients. Am J Med Genet 45:313-319.
-
(1993)
Am J Med Genet
, vol.45
, pp. 313-319
-
-
Goldberg, R.1
Motzkin, B.2
Marion, R.3
Scambler, P.J.4
Shprintzen, R.J.5
-
60
-
-
33645072829
-
Speech and language disorders in velo-cardio-facial syndrome
-
Golding-Kushner ,Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge University Press
-
Golding-Kushner (2005) Speech and language disorders in velo-cardio-facial syndrome. Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge University Press, pp. 181-199.
-
(2005)
, pp. 181-199
-
-
-
62
-
-
17444434198
-
Frequency of 22ql 1 deletions in patients with conotruncal defects
-
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA (1998) Frequency of 22ql 1 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492-498.
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 492-498
-
-
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
Jawad, A.F.4
Cuneo, B.F.5
Reed, L.6
McDonald-McGinn, D.7
Chien, P.8
Feuer, J.9
Zackai, E.H.10
Emanuel, B.S.11
Driscoll, D.A.12
-
63
-
-
84886051449
-
A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22ql 1
-
Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML (1996) A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22ql 1. Hum Mol Genet 58:1377-1381.
-
(1996)
Hum Mol Genet
, vol.58
, pp. 1377-1381
-
-
Gong, W.1
Emanuel, B.S.2
Collins, J.3
Kim, D.H.4
Wang, Z.5
Chen, F.6
Zhang, G.7
Roe, B.8
Budarf, M.L.9
-
64
-
-
0031671548
-
A population study of chromosome 22qll deletions in infancy
-
Goodship J, Cross I, LiLing J, Wren C (1998) A population study of chromosome 22qll deletions in infancy. Arch Dis Child 79:348-351.
-
(1998)
Arch Dis Child
, vol.79
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
LiLing, J.3
Wren, C.4
-
65
-
-
0031003190
-
Nasal dimple as part of the 22qll.2 deletion syndrome
-
Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Ema-nuel BS, Zackai EH (1997) Nasal dimple as part of the 22qll.2 deletion syndrome. Am J Med Genet 69:290-292.
-
(1997)
Am J Med Genet
, vol.69
, pp. 290-292
-
-
Gripp, K.W.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Reed, L.A.4
Ema-nuel, B.S.5
Zackai, E.H.6
-
66
-
-
0026665913
-
CNS midline anoma-lies in the Opitz G/BBB syndrome: Report on 12 Brazilian patients
-
Guion-Almeida ML, Richieri-Costa A (1992) CNS midline anoma-lies in the Opitz G/BBB syndrome: Report on 12 Brazilian patients. Am J Med Genet 43:918-928.
-
(1992)
Am J Med Genet
, vol.43
, pp. 918-928
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
67
-
-
0032581132
-
Molecular confirmation of germ line mosaicism for a submicro-scopic deletion of chromosome 22qll
-
Hatchwell E, Long F, Wilde J, Crolla J, Temple K (1998) Molecular confirmation of germ line mosaicism for a submicro-scopic deletion of chromosome 22qll. Am J Med Genet 78:103-106.
-
(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
-
68
-
-
0035196580
-
Immunologic features of chromosome 22qll.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE (2001) Immunologic features of chromosome 22qll.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr 139:715-723.
-
(2001)
J Pediatr
, vol.139
, pp. 715-723
-
-
Jawad, A.F.1
McDonald-Mcginn, D.M.2
Zackai, E.3
Sullivan, K.E.4
-
70
-
-
0029151334
-
Humoral immunity in DiGeorge syndrome
-
Junker AK, Driscoll DA (1995) Humoral immunity in DiGeorge syndrome. J Pediatr 127:231-237.
-
(1995)
J Pediatr
, vol.127
, pp. 231-237
-
-
Junker, A.K.1
Driscoll, D.A.2
-
71
-
-
66049158683
-
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22qll.2 deletion syndrome: A comparison of immunologic and nonimmu-nologic phenotypic features
-
Jyonouchi S, McDonald-McGinn DM, Bale S, Zackai EH, Sullivan KE (2009) CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22qll.2 deletion syndrome: A comparison of immunologic and nonimmu-nologic phenotypic features. Pediatr 123 :e871-877.
-
(2009)
Pediatr
, vol.123
-
-
Jyonouchi, S.1
McDonald-McGinn, D.M.2
Bale, S.3
Zackai, E.H.4
Sullivan, K.E.5
-
72
-
-
3343012130
-
Increased prevalence of unprovoked seizures in patients with a 22q 11.2 deletion
-
Kao A, Mariani J, McDonald-McGinn DM, Maisenbacher MK, Brooks-Kayal AR, Zackai EH, Lynch DR (2004) Increased prevalence of unprovoked seizures in patients with a 22q 11.2 deletion. Am J Med Genet A 129:29-34.
-
(2004)
Am J Med Genet A
, vol.129
, pp. 29-34
-
-
Kao, A.1
Mariani, J.2
McDonald-McGinn, D.M.3
Maisenbacher, M.K.4
Brooks-Kayal, A.R.5
Zackai, E.H.6
Lynch, D.R.7
-
73
-
-
40949146142
-
Parathyroid hormone reserve in 22ql 1.2 deletion syndrome
-
Kapadia CR, Kim YE, McDonald-McGinn DM, Zackai EH, Katz LE (2008) Parathyroid hormone reserve in 22ql 1.2 deletion syndrome. Genet Med 10:224-228.
-
(2008)
Genet Med
, vol.10
, pp. 224-228
-
-
Kapadia, C.R.1
Kim, Y.E.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
Katz, L.E.5
-
74
-
-
0035049590
-
Rapid detection of the 22qll.2 deletion with quantitative real-time PCR
-
Kariyazono H, Ohno T, Ihara K, Igarashi H, Joh-o K, Ishikawa S, Hara T (2001) Rapid detection of the 22qll.2 deletion with quantitative real-time PCR. Mol Cell Probes 15:71-73.
-
(2001)
Mol Cell Probes
, vol.15
, pp. 71-73
-
-
Kariyazono, H.1
Ohno, T.2
Ihara, K.3
Igarashi, H.4
Joh-o, K.5
Ishikawa, S.6
Hara, T.7
-
75
-
-
0032559315
-
Deletion of 22q 11 in two brothers with different phenotype
-
Kasprzak L, Der Kaloustian VM, Elliott AM, Shevell M, Lejtenyi C, Eydoux P (1998) Deletion of 22q 11 in two brothers with different phenotype. Am J Med Genet 75:288-291.
-
(1998)
Am J Med Genet
, vol.75
, pp. 288-291
-
-
Kasprzak, L.1
Der Kaloustian, V.M.2
Elliott, A.M.3
Shevell, M.4
Lejtenyi, C.5
Eydoux, P.6
-
76
-
-
3042738235
-
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22ql 1.2)
-
Kates WR, Burnette CP, Bessette BA, Folley BS, Strunge L, Jabs EW, Pearlson GD (2004) Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22ql 1.2). J Child Neurol 19:337-342.
-
(2004)
J Child Neurol
, vol.19
, pp. 337-342
-
-
Kates, W.R.1
Burnette, C.P.2
Bessette, B.A.3
Folley, B.S.4
Strunge, L.5
Jabs, E.W.6
Pearlson, G.D.7
-
77
-
-
0035659620
-
Graves' disease in patients with 22ql 1.2 deletion
-
Kawame H, Adachi M, Tachibana K, Kurosawa K, Ito F, Gleason MM, Weinzimer S, Levitt-Katz L, Sullivan K, McDonald-McGinn DM (2001) Graves' disease in patients with 22ql 1.2 deletion. J Pediatr 139:892-895.
-
(2001)
J Pediatr
, vol.139
, pp. 892-895
-
-
Kawame, H.1
Adachi, M.2
Tachibana, K.3
Kurosawa, K.4
Ito, F.5
Gleason, M.M.6
Weinzimer, S.7
Levitt-Katz, L.8
Sullivan, K.9
McDonald-McGinn, D.M.10
-
78
-
-
0034137112
-
DiGeorge syndrome with Graves' disease: A case report
-
Kawamura T, Nimura I, Hanafusa M, Fujikawa R, Okubo M, Egusa G, Amakido M, (2000) DiGeorge syndrome with Graves' disease: A case report. Endocr J 47:91-95.
-
(2000)
Endocr J
, vol.47
, pp. 91-95
-
-
Kawamura, T.1
Nimura, I.2
Hanafusa, M.3
Fujikawa, R.4
Okubo, M.5
Egusa, G.6
Amakido, M.7
-
79
-
-
0031554756
-
Letter to the Editor: Arthritis associated with 22ql 1.2:More common than previously suspected
-
Keenan GF, Sullivan KE, McDonald-McGinn DM, Zackai EH (1997) Letter to the Editor: Arthritis associated with 22ql 1.2:More common than previously suspected. Am J Med Genet 71:488.
-
(1997)
Am J Med Genet
, vol.71
, pp. 488
-
-
Keenan, G.F.1
Sullivan, K.E.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
-
80
-
-
0020026258
-
The association of the DiGeorge anomaiad with partial monosomy of chromosome 22
-
Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH (1982) The association of the DiGeorge anomaiad with partial monosomy of chromosome 22. J Pediatr 101:197-200.
-
(1982)
J Pediatr
, vol.101
, pp. 197-200
-
-
Kelley, R.I.1
Zackai, E.H.2
Emanuel, B.S.3
Kistenmacher, M.4
Greenberg, F.5
Punnett, H.H.6
-
81
-
-
33645060047
-
Palatal anomalies and velopharyngeal dys-function associated with velo-cardio-facial syndrome
-
Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge Univer-sity Press
-
Kirschner RE, (2005) Palatal anomalies and velopharyngeal dys-function associated with velo-cardio-facial syndrome. Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge Univer-sity Press, pp. 83-105.
-
(2005)
, pp. 83-105
-
-
Kirschner, R.E.1
-
82
-
-
0029882855
-
Deletion mapping of 22ql 1 in CATCH22 syndrome: Identification of a second critical region
-
Kurahashi H, Nakayama T, Osug Y, Tsuda E, Masuno M, Imaizumi K, Kamiya T, Sano T, Okado S, Nishisho I (1996) Deletion mapping of 22ql 1 in CATCH22 syndrome: Identification of a second critical region. Am J Hum Genet 58:1377-1381.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1377-1381
-
-
Kurahashi, H.1
Nakayama, T.2
Osug, Y.3
Tsuda, E.4
Masuno, M.5
Imaizumi, K.6
Kamiya, T.7
Sano, T.8
Okado, S.9
Nishisho, I.10
-
83
-
-
0345193776
-
Letter to the Editor: Opitz GBBB syndrome and the 22q 11.2 deletion syndrome
-
LaCassie Y, Arriaza MI (1996) Letter to the Editor: Opitz GBBB syndrome and the 22q 11.2 deletion syndrome. Am J Med Genet 62:318.
-
(1996)
Am J Med Genet
, vol.62
, pp. 318
-
-
LaCassie, Y.1
Arriaza, M.I.2
-
84
-
-
0029166983
-
Cerebellar atrophy in a patient with velocardiofacial syndrome
-
Lynch DR, McDonald-McGinn D, Zackai EH, Emanuel BS, Dris-coll DA, Whitaker LA, Fischbeck KA (1995) Cerebellar atrophy in a patient with velocardiofacial syndrome. J Med Genet 32:561-563.
-
(1995)
J Med Genet
, vol.32
, pp. 561-563
-
-
Lynch, D.R.1
McDonald-McGinn, D.2
Zackai, E.H.3
Emanuel, B.S.4
Dris-coll, D.A.5
Whitaker, L.A.6
Fischbeck, K.A.7
-
85
-
-
1442280674
-
DNA copy-number analysis of the 22ql 1 deletion-syndrome region using array-CGH with genomic and PCR-based targets
-
Mantripragada KK, Tapia-Paez I, Blennow E, Nilsson P, Wedell A, Dumanski JP (2004) DNA copy-number analysis of the 22ql 1 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 13:273-279.
-
(2004)
Int J Mol Med
, vol.13
, pp. 273-279
-
-
Mantripragada, K.K.1
Tapia-Paez, I.2
Blennow, E.3
Nilsson, P.4
Wedell, A.5
Dumanski, J.P.6
-
86
-
-
0035746361
-
Anatomic Patterns of conotruncal defects associated with deletion 22ql 1
-
Marino B, Digilio MC, Toscano A (2001) Anatomic Patterns of conotruncal defects associated with deletion 22ql 1. Genet Med 3:45-48.
-
(2001)
Genet Med
, vol.3
, pp. 45-48
-
-
Marino, B.1
Digilio, M.C.2
Toscano, A.3
-
87
-
-
34249945181
-
Congenital cardiovascular disease and velocardiofacial syn-drome
-
Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge University Press
-
Marino B, Mileto F, Digilio MC, Carotti A, DiDonato R, (2005) Congenital cardiovascular disease and velocardiofacial syn-drome. Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge University Press, pp. 47-82.
-
(2005)
, pp. 47-82
-
-
Marino, B.1
Mileto, F.2
Digilio, M.C.3
Carotti, A.4
DiDonato, R.5
-
88
-
-
0028019184
-
Confirma-tion that the conotruncal anomaly face syndrome is associated with a deletion within 22ql 1.2
-
Matsouka R, Takao A, Kimura M, Imamura S-I, Kondo C, loh-o K, Ikeda K, Nishibatake M, Ando M, Momma K (1994) Confirma-tion that the conotruncal anomaly face syndrome is associated with a deletion within 22ql 1.2. Am J Med Genet 53:285-289.
-
(1994)
Am J Med Genet
, vol.53
, pp. 285-289
-
-
Matsouka, R.1
Takao, A.2
Kimura, M.3
Imamura, S.I.4
Kondo, C.5
loh-o, K.6
Ikeda, K.7
Nishibatake, M.8
Ando, M.9
Momma, K.10
-
89
-
-
0031659846
-
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
-
Matsouka R, Kimura M, Scambler P (1998) Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet 103:70-80.
-
(1998)
Hum Genet
, vol.103
, pp. 70-80
-
-
Matsouka, R.1
Kimura, M.2
Scambler, P.3
-
90
-
-
0027165659
-
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies
-
MacDonald MR, Schaefer GB, Olney AH, Tamayo M, Frfas JL (1993) Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies. Am J Med Genet 46:706-711.
-
(1993)
Am J Med Genet
, vol.46
, pp. 706-711
-
-
MacDonald, M.R.1
Schaefer, G.B.2
Olney, A.H.3
Tamayo, M.4
Frfas, J.L.5
-
91
-
-
0029148704
-
Autosomal dominant "Opitz" GBBB syndrome due to a 22ql 1.2 deletion
-
McDonald-McGinn DM, Driscoll DA, Bason L, Christensen K, Lynch D, Sullivan K, Canning D, Zavod W, Quinn N, Rome J, Paris Y, Weinberg P, Clark BJ, Emanuel BS, Zackai EH (1995) Autosomal dominant "Opitz" GBBB syndrome due to a 22ql 1.2 deletion. Am J Med Genet 59:103-113.
-
(1995)
Am J Med Genet
, vol.59
, pp. 103-113
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Bason, L.3
Christensen, K.4
Lynch, D.5
Sullivan, K.6
Canning, D.7
Zavod, W.8
Quinn, N.9
Rome, J.10
Paris, Y.11
Weinberg, P.12
Clark, B.J.13
Emanuel, B.S.14
Zackai, E.H.15
-
92
-
-
0029833528
-
Letter to the Editor: Autosomal dominant "Opitz" GBBB syndrome due to a 22ql 1.2 deletion
-
McDonald-McGinn DM, Emanuel BS, Zackai EH (1996) Letter to the Editor: Autosomal dominant "Opitz" GBBB syndrome due to a 22ql 1.2 deletion. Am J Med Genet 64:525-526.
-
(1996)
Am J Med Genet
, vol.64
, pp. 525-526
-
-
McDonald-McGinn, D.M.1
Emanuel, B.S.2
Zackai, E.H.3
-
93
-
-
0031291657
-
The 22ql 1.2 deletion: Screening, diagnostic workup, and outcome of results; Report on 181 patients
-
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz R Lynch D, Bingham P, Keenan G, Weinzimer S, Ming IE, Driscoll D, Clark BI III, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH (1997a) The 22ql 1.2 deletion: Screening, diagnostic workup, and outcome of results; Report on 181 patients. Genet Test 1:99-108.
-
(1997)
Genet Test
, vol.1
, pp. 99-108
-
-
McDonald-McGinn, D.M.1
LaRossa, D.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
Moss, E.7
Wang, P.8
Solot, C.9
Schultz, R.10
Lynch, D.11
Bingham, P.12
Keenan, G.13
Weinzimer, S.14
Ming, I.E.15
Driscoll, D.16
Clark, B.I.17
Markowitz, R.18
Cohen, A.19
Moshang, T.20
Pasquariello, P.21
Randall, P.22
Emanuel, B.S.23
Zackai, E.H.24
more..
-
94
-
-
0031130037
-
Detection of a 22qll.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence
-
McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ III, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH (1997b) Detection of a 22qll.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence. Pediatrics 99:1-5 (http://www.pediatrics.org/cgi/ content/full/99/5/e9).
-
(1997)
Pediatrics
, vol.99
, pp. 1-5
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Emanuel, B.S.3
Goldmuntz, E.4
Clark, B.J.5
Solot, C.6
Cohen, M.7
Schultz, P.8
LaRossa, D.9
Randall, P.10
Zackai, E.H.11
-
95
-
-
0033033492
-
The Philadelphia Story: The 22q 11.2 Deletion: Report on 250 Patients
-
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, Grace K, Driscoll D, Pasquariello P, Randall P, LaRossa D, Emanuel BS, Zackai EH (1999) The Philadelphia Story: The 22q 11.2 Deletion: Report on 250 Patients. Genet Couns 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
Moss, E.7
Solot, C.8
Wang, P.9
Jacobs, I.10
Handler, S.11
Knightly, C.12
Heher, K.13
Wilson, M.14
Ming, J.E.15
Grace, K.16
Driscoll, D.17
Pasquariello, P.18
Randall, P.19
LaRossa, D.20
Emanuel, B.S.21
Zackai, E.H.22
more..
-
96
-
-
0035746391
-
Phenotype of the 22ql 1.2 deletion in individuals identified through an affected relative: Cast a wide FISH'mg net
-
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finu-cane B, Driscoll DA, Emanuel BS, Zackai EH (2001 a) Phenotype of the 22ql 1.2 deletion in individuals identified through an affected relative: Cast a wide FISH'mg net! Genet Med 3:23-29.
-
(2001)
Genet Med
, vol.3
, pp. 23-29
-
-
McDonald-McGinn, D.M.1
Tonnesen, M.K.2
Laufer-Cahana, A.3
Finu-cane, B.4
Driscoll, D.A.5
Emanuel, B.S.6
Zackai, E.H.7
-
97
-
-
84885985875
-
Parent of origin does not determine phenotype in the 22ql 1.2 deletion
-
McDonald-McGinn DM, Driscoll DA, Tonnesen M, Sullivan K, Kirschner R, Goldmuntz E, Weinzimer S, Lynch D, Wang P, Moss E, Gerdes M, Solot C, Catania C, Saitta S, Emanuel BS, Zackai EH (2001) Parent of origin does not determine phenotype in the 22ql 1.2 deletion. Am J Hum Genet 69:285(A597).
-
(2001)
Am J Hum Genet
, vol.69
, Issue.597 A
, pp. 285
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Tonnesen, M.3
Sullivan, K.4
Kirschner, R.5
Goldmuntz, E.6
Weinzimer, S.7
Lynch, D.8
Wang, P.9
Moss, E.10
Gerdes, M.11
Solot, C.12
Catania, C.13
Saitta, S.14
Emanuel, B.S.15
Zackai, E.H.16
-
98
-
-
55949130189
-
Guidelines for prenatal detection of the 22ql 1.2 deletion
-
McDonald-McGinn DM, Driscoll DA, Saitta S, Jawad A, Tonnesen M, Ming JE, Goldmuntz E, Canning D, Spinner N, Emanuel BS, Zackai EH (2002) Guidelines for prenatal detection of the 22ql 1.2 deletion. Am J Hum Genet 71:198(A173).
-
(2002)
Am J Hum Genet
, vol.71
, Issue.173 A
, pp. 198
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Saitta, S.3
Jawad, A.4
Tonnesen, M.5
Ming, J.E.6
Goldmuntz, E.7
Canning, D.8
Spinner, N.9
Emanuel, B.S.10
Zackai, E.H.11
-
99
-
-
33645068700
-
-
Genetic Counseling. In Velo-Cardio-Facial Syndrome, Murphy KC and Scambler PJ (eds.), Cambridge University Press
-
McDonald-McGinn DM and Zackai EH (2005) Genetic Counseling. In Velo-Cardio-Facial Syndrome, Murphy KC and Scambler PJ (eds.), Cambridge University Press, pp 200-219.
-
(2005)
, pp. 200-219
-
-
McDonald-McGinn, D.M.1
Zackai, E.H.2
-
100
-
-
20144389437
-
The 22ql 1.2 deletion in African-American patients? An underdiagnosed population
-
McDonald-McGinn DM, Minugh-Purvis N, Kirschner R, Jawad A, Tonnesen MK, Catanzaro JR, Driscoll D, LaRossa D, Emanuel B, Zackai EH (2005a) The 22ql 1.2 deletion in African-American patients? An underdiagnosed population. Am J Med Genet 134:242-246.
-
(2005)
Am J Med Genet
, vol.134
, pp. 242-246
-
-
McDonald-McGinn, D.M.1
Minugh-Purvis, N.2
Kirschner, R.3
Jawad, A.4
Tonnesen, M.K.5
Catanzaro, J.R.6
Driscoll, D.7
LaRossa, D.8
Emanuel, B.9
Zackai, E.H.10
-
101
-
-
23044496400
-
Craniosynostosis: Another feature of the 22ql 1.2 deletion syndrome
-
McDonald-McGinn DM, Gripp KW, Kirschner RE, Maisenbacher MK, Hustead V, Schauer GM, Keppler-Noreuil KM, Ciprero KL, Pasquariello P Jr, LaRossa D, Bartlett SP, Whitaker LA, Zackai EH (2005b) Craniosynostosis: Another feature of the 22ql 1.2 deletion syndrome. Am J Med Genet 136:358-362.
-
(2005)
Am J Med Genet
, vol.136
, pp. 358-362
-
-
McDonald-McGinn, D.M.1
Gripp, K.W.2
Kirschner, R.E.3
Maisenbacher, M.K.4
Hustead, V.5
Schauer, G.M.6
Keppler-Noreuil, K.M.7
Ciprero, K.L.8
Pasquariello, P.9
LaRossa, D.10
Bartlett, S.P.11
Whitaker, L.A.12
Zackai, E.H.13
-
103
-
-
84886083103
-
Atypical 22qll.2 deletions
-
McDonald-McGinn DM, Catania C, Saitta S, Kaplan P, Coppinger J, Shaffer L, Emanuel BS, Zackai EH (2008) Atypical 22qll.2 deletions. Proc Greenwood Genet Cent 27:106-107.
-
(2008)
Proc Greenwood Genet Cent
, vol.27
, pp. 106-107
-
-
McDonald-McGinn, D.M.1
Catania, C.2
Saitta, S.3
Kaplan, P.4
Coppinger, J.5
Shaffer, L.6
Emanuel, B.S.7
Zackai, E.H.8
-
105
-
-
0032769144
-
Patient with a 22q 11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR)
-
McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A (1999) Patient with a 22q 11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). Am J Med Genet 86:27-33.
-
(1999)
Am J Med Genet
, vol.86
, pp. 27-33
-
-
McQuade, L.1
Christodoulou, J.2
Budarf, M.3
Sachdev, R.4
Wilson, M.5
Emanuel, B.6
Colley, A.7
-
106
-
-
0030868847
-
Skeletal anomalies in patients with deletions of 22ql 1
-
Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elics ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH (1997) Skeletal anomalies in patients with deletions of 22ql 1. Am J Med Genet 72:210-215.
-
(1997)
Am J Med Genet
, vol.72
, pp. 210-215
-
-
Ming, J.E.1
McDonald-McGinn, D.M.2
Megerian, T.E.3
Driscoll, D.A.4
Elics, E.R.5
Russell, B.M.6
Irons, M.7
Emanuel, B.S.8
Markowitz, R.I.9
Zackai, E.H.10
-
107
-
-
0029665182
-
The search for hemi-zygosity at 22qll in patients with isolated cleft palate
-
Mingarelli R, Digilio MC, Mari A (1996) The search for hemi-zygosity at 22qll in patients with isolated cleft palate. J Cra-niofac Genet Dev Biol 16:118-121.
-
(1996)
J Cra-niofac Genet Dev Biol
, vol.16
, pp. 118-121
-
-
Mingarelli, R.1
Digilio, M.C.2
Mari, A.3
-
108
-
-
0029877271
-
The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome
-
Mitnick RJ, Bello JA, Golding-Kushner KJ, et al (1996) The use of magnetic resonance angiography prior to pharyngeal flap surgery in patients with velocardiofacial syndrome. Plast Reconstr Surg 97:908-919.
-
(1996)
Plast Reconstr Surg
, vol.97
, pp. 908-919
-
-
Mitnick, R.J.1
Bello, J.A.2
Golding-Kushner, K.J.3
-
109
-
-
0003003981
-
Characteristic cognitive profile in patients with a 22q 11.2 deletion-Verbal IQ exceeds nonverbal IQ (abstract)
-
Moss E, Wang PP, McDonald-McGinn DM, et al (1995) Characteristic cognitive profile in patients with a 22q 11.2 deletion-Verbal IQ exceeds nonverbal IQ (abstract). Am J Hum Genet 57:SS91.
-
(1995)
Am J Hum Genet
, vol.57
-
-
Moss, E.1
Wang, P.P.2
McDonald-McGinn, D.M.3
-
110
-
-
0033063788
-
Psychoeducational profile of the 22qll.2 microdeletion: A complex pattern
-
Moss EM, Batshaw ML, Solot CB, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Wang PP (1999) Psychoeducational profile of the 22qll.2 microdeletion: A complex pattern. J Pediatr 134:193-198.
-
(1999)
J Pediatr
, vol.134
, 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
Emanuel, B.S.7
Zackai, E.H.8
Wang, P.P.9
-
111
-
-
0032882849
-
High rates of schizophrenia in adults with velo-cardio-facial syndrome
-
Murphy KC, Jones LA, Owen MJ (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940-945.
-
(1999)
Arch Gen Psychiatry
, vol.56
, pp. 940-945
-
-
Murphy, K.C.1
Jones, L.A.2
Owen, M.J.3
-
112
-
-
0029956830
-
Neural tube defects and deletions of 22qll
-
Nickel RE, Magenis RE (1996) Neural tube defects and deletions of 22qll. Am J Med Genet 66:25-27.
-
(1996)
Am J Med Genet
, vol.66
, pp. 25-27
-
-
Nickel, R.E.1
Magenis, R.E.2
-
114
-
-
0030960331
-
Detection of an atypical 22ql 1 deletion that has no overlap with the DiGeorge syndrome critical region
-
O'Donnell H, McKeownC, Gould C, MorrowB, ScamlblerP(1997) Detection of an atypical 22ql 1 deletion that has no overlap with the DiGeorge syndrome critical region. Am J Hum Genet 60:1544-1548.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1544-1548
-
-
O'Donnell, H.1
McKeown, C.2
Gould, C.3
Morrow, B.4
Scamlbler, P.5
-
115
-
-
0842327784
-
Incidence and prevalence of the 22qll deletion syndrome: A population-based study in Western Sweden
-
Oskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22qll deletion syndrome: A population-based study in Western Sweden. Arch Dis Child 89:148-151.
-
(2004)
Arch Dis Child
, vol.89
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fasth, A.3
-
116
-
-
14044273647
-
Disabilities and cognition in children and adolescents with 22qll deletion syndrome
-
Oskarsdottir S, Belfrage M, Sandstedt E, Viggedal G, Uvebrant P (2005) Disabilities and cognition in children and adolescents with 22qll deletion syndrome. Dev Med Child Neurol 47:177-184.
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 177-184
-
-
Oskarsdottir, S.1
Belfrage, M.2
Sandstedt, E.3
Viggedal, G.4
Uvebrant, P.5
-
117
-
-
0028092829
-
Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome
-
Pinchas-Hamiel O, Mandel M, Engelberg S, Passwell JH (1994) Immune hemolytic anemia, thrombocytopenia and liver disease in a patient with DiGeorge syndrome. Isr J Med Sci 30:530-532.
-
(1994)
Isr J Med Sci
, vol.30
, pp. 530-532
-
-
Pinchas-Hamiel, O.1
Mandel, M.2
Engelberg, S.3
Passwell, J.H.4
-
118
-
-
0029853761
-
Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q result in bipolar affective disorder
-
Popolos DF, Faedda GL, Veit S, Goldberg R, Morrow B, Kucherla-pati R, Shprintzen RJ (1996) Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: Does a hemizygous deletion of chromosome 22q result in bipolar affective disorder? Am J Psychiatry 153:1541-1547.
-
(1996)
Am J Psychiatry
, vol.153
, pp. 1541-1547
-
-
Popolos, D.F.1
Faedda, G.L.2
Veit, S.3
Goldberg, R.4
Morrow, B.5
Kucherla-pati, R.6
Shprintzen, R.J.7
-
120
-
-
33749465589
-
Diagnostic yield of various genetic ap-proaches in patients with unexplained developmental delay or mental retardation
-
Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, Zenker M, Hiiffmeier U, Thiel C, Riischendorf F, Niirnberg P, Reis A, Trautmann U (2006) Diagnostic yield of various genetic ap-proaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A 140:2063-2074.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 2063-2074
-
-
Rauch, A.1
Hoyer, J.2
Guth, S.3
Zweier, C.4
Kraus, C.5
Becker, C.6
Zenker, M.7
Hiiffmeier, U.8
Thiel, C.9
Riischendorf, F.10
Niirnberg, P.11
Reis, A.12
Trautmann, U.13
-
121
-
-
3542992663
-
Radiographic study of the upper cervical spine in the 22qll. 2 deletion syndrome
-
Ricchetti ET, States L, Hosalkar HS, Tamai J, Maisenbacher M, McDonald-McGinn DM, Zackai EH, Drummond DS (2004) Radiographic study of the upper cervical spine in the 22qll.2 deletion syndrome. J Bone Joint Surg Am 6A: 1751-1760.
-
(2004)
J Bone Joint Surg Am
, vol.6 A
, pp. 1751-1760
-
-
Ricchetti, E.T.1
States, L.2
Hosalkar, H.S.3
Tamai, J.4
Maisenbacher, M.5
McDonald-McGinn, D.M.6
Zackai, E.H.7
Drummond, D.S.8
-
122
-
-
33750580533
-
Polymicrogyria and deletion 22ql 1.2 syndrome: Window to the etiology of a common cortical malformation
-
Robin NH, Taylor CG, McDonald-McGinn DM, Zackai EH, Bing-ham P, Collins KJ, Earl D, Gill D, Granata T, Guerrini R, Katz N, Kimonis V, Lin JP, Lynch DR, Mohammed SN, Massey RF,McDonald M, Rogers RC, Splitt M, Stevens CA, Tischkowitz MD, Stoodley N, Leventeer RJ, Pilz DT, Dobyns WB (2006) Polymicrogyria and deletion 22ql 1.2 syndrome: Window to the etiology of a common cortical malformation. Am J Med Genet 140:2416-2425.
-
(2006)
Am J Med Genet
, vol.140
, pp. 2416-2425
-
-
Robin, N.H.1
Taylor, C.G.2
McDonald-McGinn, D.M.3
Zackai, E.H.4
Bing-ham, P.5
Collins, K.J.6
Earl, D.7
Gill, D.8
Granata, T.9
Guerrini, R.10
Katz, N.11
Kimonis, V.12
Lin, J.P.13
Lynch, D.R.14
Mohammed, S.N.15
Massey, R.F.16
cDonald, M.17
Rogers, R.C.18
Splitt, M.19
Stevens, C.A.20
Tischkowitz, M.D.21
Stoodley, N.22
Leventeer, R.J.23
Pilz, D.T.24
Dobyns, W.B.25
more..
-
123
-
-
0029854475
-
Is pharyngoplasty a risk in velocardiofacial syndrome? An assess-ment of medially displaced carotid arteries
-
Ross DA, Witzel MA, Armstrong DC, Thomson HG (1996) Is pharyngoplasty a risk in velocardiofacial syndrome? An assess-ment of medially displaced carotid arteries. Plast Reconstr Surg 98:1182-1190.
-
(1996)
Plast Reconstr Surg
, vol.98
, pp. 1182-1190
-
-
Ross, D.A.1
Witzel, M.A.2
Armstrong, D.C.3
Thomson, H.G.4
-
124
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22qll deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scam-bler (1997) Spectrum of clinical features associated with interstitial chromosome 22qll deletions: A European collaborative study. J Med Genet 34:798-804.
-
(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
Schuffenhauer, S.7
Oechsler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.A.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.A.19
Ignatius, J.20
Green, A.J.21
Winter, R.M.22
Brueton, L.23
Brondum-Nielsen, K.24
Scam-bler25
more..
-
125
-
-
0345862009
-
Inde-pendent de novo 22qll.2 deletions in first cousins with Di-George/velocardiofacial syndrome
-
Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA (2004) Inde-pendent de novo 22qll.2 deletions in first cousins with Di-George/velocardiofacial syndrome. Am J Med Genet 124:313-317.
-
(2004)
Am J Med Genet
, vol.124
, 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
Seitz, S.C.7
Driscoll, D.A.8
-
126
-
-
0036590315
-
Recurrent 22ql 1.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome
-
Sandrin-Garcia P, Macedo C, Martelli LR (2002) Recurrent 22ql 1.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet 61:380-383.
-
(2002)
Clin Genet
, vol.61
, pp. 380-383
-
-
Sandrin-Garcia, P.1
Macedo, C.2
Martelli, L.R.3
-
127
-
-
0026893418
-
Asymmetric crying facies: The cardiofacial syndrome
-
150
-
Sanklecha M, Kher A, Bharucha BA (1992) Asymmetric crying facies: The cardiofacial syndrome. J Postgrad Med 38:147-148, 150.
-
(1992)
J Postgrad Med
, vol.38
, pp. 147-148
-
-
Sanklecha, M.1
Kher, A.2
Bharucha, B.A.3
-
128
-
-
0033753819
-
The 22ql 1 deletion syndromes
-
Scambler PJ (2000) The 22ql 1 deletion syndromes. Hum Mol Genet 10:2421-2426.
-
(2000)
Hum Mol Genet
, vol.10
, pp. 2421-2426
-
-
Scambler, P.J.1
-
129
-
-
0025796855
-
Microdeletions within 22ql 1 associated with sporadic and familial DiGeorge syndrome
-
Scambler PJ, Carey AH, Wyse RK, Roach S, Dumanski JP, Nor-denskjold M, Williamson R (1991) Microdeletions within 22ql 1 associated with sporadic and familial DiGeorge syndrome. Ge-nomics 10:201-206.
-
(1991)
Ge-nomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.3
Roach, S.4
Dumanski, J.P.5
Nor-denskjold, M.6
Williamson, R.7
-
130
-
-
0026782016
-
Selective polysaccharide antibody deficiency in familial DiGeorge syndrome
-
Schubert MS, Moss RB (1992) Selective polysaccharide antibody deficiency in familial DiGeorge syndrome. Ann Allergy 69:231-238.
-
(1992)
Ann Allergy
, vol.69
, pp. 231-238
-
-
Schubert, M.S.1
Moss, R.B.2
-
131
-
-
0034161932
-
Chromosome 22-specific low copy repeats and the 22ql 1.2 deletion syndrome: Genomic organization and deletion endpoint analysis
-
Shaikh TH, Kurahashi H, Saitta SC, Hu P, Rose BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS (2000) Chromosome 22-specific low copy repeats and the 22ql 1.2 deletion syndrome: Genomic organization and deletion endpoint analysis. Hum Mol Genet 9:489-501.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 489-501
-
-
Shaikh, T.H.1
Kurahashi, H.2
Saitta, S.C.3
Hu, P.4
Rose, B.A.5
Driscoll, D.A.6
McDonald-McGinn, D.M.7
Zackai, E.H.8
Budarf, M.L.9
Emanuel, B.S.10
-
132
-
-
33645070380
-
-
Historical overview. Velo-Cardio-Facial Syndrome: A Model for Understanding Micmdeletion Disorders, Cambridge, UK: Cambridge University Press
-
Shprintzen RJ, (2005) Historical overview. Velo-Cardio-Facial Syndrome: A Model for Understanding Micmdeletion Disorders, Cambridge, UK: Cambridge University Press, pp. 1-19.
-
(2005)
, pp. 1-19
-
-
Shprintzen, R.J.1
-
134
-
-
0023005789
-
Asymmetric crying facies with microcephaly and mental retardation.An autosomal dominant syndrome with variable expressivity
-
Silengo MC, Bell GL, Biagioli M, Guala A, Bianco R, Strandoni P, De Sario PN, Franceschini P (1986) Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clin Genet 30:481-484.
-
(1986)
Clin Genet
, vol.30
, pp. 481-484
-
-
Silengo, M.C.1
Bell, G.L.2
Biagioli, M.3
Guala, A.4
Bianco, R.5
Strandoni, P.6
De Sario, P.N.7
Franceschini, P.8
-
135
-
-
0031833947
-
Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22ql 1.2 deletion syndrome (DiGeorge syndrome/velocar-diofacial syndrome)
-
Smith CA, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH, Sullivan KE (1998) Increased prevalence of immunoglobulin A deficiency in patients with the chromosome 22ql 1.2 deletion syndrome (DiGeorge syndrome/velocar-diofacial syndrome). Clin Diagn Lab Immunol 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
-
136
-
-
0034611998
-
Communication disorders in the 22qll.2 deletion microdeletion syndrome
-
Solot CB, Knightly C, Handler S, et al (2000) Communication disorders in the 22qll.2 deletion microdeletion syndrome. J Commun Dis 33:187-204.
-
(2000)
J Commun Dis
, vol.33
, pp. 187-204
-
-
Solot, C.B.1
Knightly, C.2
Handler, S.3
-
137
-
-
0035746362
-
Communication issues in 22ql 1.2 deletion syndrome: Children at risk
-
Solot CB, Gerdes M, Kirschner RE, McDonald-McGinn DM, Moss E, Woodin M, Aleman D, Zackai EH, Wang PP (2001) Communication issues in 22ql 1.2 deletion syndrome: Children at risk. Genet Med 3:67-71.
-
(2001)
Genet Med
, vol.3
, pp. 67-71
-
-
Solot, C.B.1
Gerdes, M.2
Kirschner, R.E.3
McDonald-McGinn, D.M.4
Moss, E.5
Woodin, M.6
Aleman, D.7
Zackai, E.H.8
Wang, P.P.9
-
138
-
-
65249102937
-
Behavioral and psychiatric disor-der in velo-cardio-facial syndrome
-
Velo-Cardio-Facial Syn-drome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge University Press
-
Stevens AF, Murphy KC (2005) Behavioral and psychiatric disor-der in velo-cardio-facial syndrome. Velo-Cardio-Facial Syn-drome: A Model for Understanding Microdeletion Disorders, Cambridge, UK: Cambridge University Press, pp. 135-146.
-
(2005)
, pp. 135-146
-
-
Stevens, A.F.1
Murphy, K.C.2
-
139
-
-
0035469239
-
DiGeorge syndrome/chromosome 22qll.2 deletion syndrome
-
Sullivan KE (2001) DiGeorge syndrome/chromosome 22qll.2 deletion syndrome. Curr Allergy Asthma Rep 1:438-444.
-
(2001)
Curr Allergy Asthma Rep
, vol.1
, pp. 438-444
-
-
Sullivan, K.E.1
-
140
-
-
9644274030
-
The clinical, immunological, and molecular spectrum of chromosome 22ql 1.2 deletion syndrome and Di-George syndrome
-
Sullivan KE (2004) The clinical, immunological, and molecular spectrum of chromosome 22ql 1.2 deletion syndrome and Di-George syndrome. Curr Opin Allergy Clin Immunol 4:505-512.
-
(2004)
Curr Opin Allergy Clin Immunol
, vol.4
, pp. 505-512
-
-
Sullivan, K.E.1
-
141
-
-
44149101090
-
Immunodeficiency in velo-cardio-facial syndrome
-
Velo-Cardio-Facial Syndrome: A Model for Under-standing Microdeletion Disorders, Cambridge, UK: Cambridge University Press
-
Sullivan KE, (2005) Immunodeficiency in velo-cardio-facial syndrome. Velo-Cardio-Facial Syndrome: A Model for Under-standing Microdeletion Disorders, Cambridge, UK: Cambridge University Press, pp. 123-134.
-
(2005)
, pp. 123-134
-
-
Sullivan, K.E.1
-
142
-
-
0030951648
-
JRA-like polyarthritis in chromosome 22q 11.2 deletion syndrome (DiGeorge anomalad/velocardiofa-cial syndrome/conotruncal anomaly face syndrome)
-
Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G (1997) JRA-like polyarthritis in chromosome 22q 11.2 deletion syndrome (DiGeorge anomalad/velocardiofa-cial syndrome/conotruncal anomaly face syndrome). Arthritis Rheum 40:430-136.
-
(1997)
Arthritis Rheum
, vol.40
, pp. 430-136
-
-
Sullivan, K.E.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Zmijewski, C.M.4
Ellabban, A.S.5
Reed, L.6
Emanuel, B.S.7
Zackai, E.H.8
Athreya, B.H.9
Keenan, G.10
-
143
-
-
34548361974
-
Primary amenorrhea and absent uterus in the 22q 11.2 deletion syndrome
-
Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J (2007) Primary amenorrhea and absent uterus in the 22q 11.2 deletion syndrome. Am J Med Genet A 143:2016-2018.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2016-2018
-
-
Sundaram, U.T.1
McDonald-McGinn, D.M.2
Huff, D.3
Emanuel, B.S.4
Zackai, E.H.5
Driscoll, D.A.6
Bodurtha, J.7
-
144
-
-
0031009068
-
Intelligence and psycho-logical adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
-
Swillen A, Devriendt K, Legius E (1997) Intelligence and psycho-logical adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS. J Med Genet 34:453-458.
-
(1997)
J Med Genet
, vol.34
, pp. 453-458
-
-
Swillen, A.1
Devriendt, K.2
Legius, E.3
-
145
-
-
0033065826
-
The behavioral phenotype in velocardiofacial syndrome (VCFS): From infancy to adolescence
-
Swillen A, Devriendt K, Legius E (1999) The behavioral phenotype in velocardiofacial syndrome (VCFS): From infancy to adolescence. Genet Couns 10:79-88.
-
(1999)
Genet Couns
, vol.10
, pp. 79-88
-
-
Swillen, A.1
Devriendt, K.2
Legius, E.3
-
146
-
-
0029592748
-
Linkage disequilibrium mapping of the cornea plana congenita gene CNA2
-
Tahvanainen E, Forsius H, Damsten M, Karila E, Kolehmainen J, Weissenbach J, Sistonen P, de la Chapelle A (1995) Linkage disequilibrium mapping of the cornea plana congenita gene CNA2. Genomics 30:409-414.
-
(1995)
Genomics
, vol.30
, pp. 409-414
-
-
Tahvanainen, E.1
Forsius, H.2
Damsten, M.3
Karila, E.4
Kolehmainen, J.5
Weissenbach, J.6
Sistonen, P.7
de la Chapelle, A.8
-
147
-
-
84886030593
-
Affected parents with a 22ql 1.2 deletion: The need for basic and ongoing educational health, and supportive counsel-ing
-
Tonnesen M, McDonald-McGinn DM, Valverde K, Zackai EH (2001) Affected parents with a 22ql 1.2 deletion: The need for basic and ongoing educational health, and supportive counsel-ing. Am J Hum Genet Suppl 69:223(A241).
-
(2001)
Am J Hum Genet Suppl
, vol.69
, Issue.241 A
, pp. 223
-
-
Tonnesen, M.1
McDonald-McGinn, D.M.2
Valverde, K.3
Zackai, E.H.4
-
148
-
-
34249694249
-
Mutations in TBX1 genocopy the 22q 11.2 deletion and duplication syndromes: A new susceptibility factor for mental retardation
-
Torres-Juan L, Rosell J, Moria M, Vidal-Pou C, Garcia-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bemues M, Perez-Granero A, Govea N, Busquets X, Heine-Suner D (2007) Mutations in TBX1 genocopy the 22q 11.2 deletion and duplication syndromes: A new susceptibility factor for mental retardation. Eur J Hum Genet 15:658-663.
-
(2007)
Eur J Hum Genet
, vol.15
, pp. 658-663
-
-
Torres-Juan, L.1
Rosell, J.2
Moria, M.3
Vidal-Pou, C.4
Garcia-Algas, F.5
de la Fuente, M.A.6
Juan, M.7
Tubau, A.8
Bachiller, D.9
Bemues, M.10
Perez-Granero, A.11
Govea, N.12
Busquets, X.13
Heine-Suner, D.14
-
149
-
-
0031788096
-
Juvenile rheumatoid arthritis and del (22qll) syndrome: A non-random association
-
Verloes A, Curry C, Jamar M, Herens C, O'Lague P, Marks J, Sarda P, Blanchet P (1998) Juvenile rheumatoid arthritis and del (22qll) syndrome: A non-random association. J Med Genet 35:943-947.
-
(1998)
J Med 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
Sarda, P.7
Blanchet, P.8
-
150
-
-
33748426974
-
The 22q 11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
-
Vorstman JA, Morcus ME, Duijff SN, Klaassen PW, Heineman-de Boer JA, Beemer FA, S waab H, Kahn RS, van Engeland H (2006) The 22q 11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms. JAmAcad Child Adolesc Psychiatry 45:1104-1113.
-
(2006)
JAmAcad Child Adolesc Psychiatry
, vol.45
, 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
Swaab, H.7
Kahn, R.S.8
van Engeland, H.9
-
151
-
-
0032177986
-
Developmental presentation of 22ql 1.2 deletion
-
Wang P, Solot C, Gerdes M, Moss E, Driscoll D, Emanuel B, McDonald-McGinn DM, Zackai EH (1998) Developmental presentation of 22ql 1.2 deletion. Dev Behav Pediatr 19:342-345.
-
(1998)
Dev Behav Pediatr
, vol.19
, pp. 342-345
-
-
Wang, P.1
Solot, C.2
Gerdes, M.3
Moss, E.4
Driscoll, D.5
Emanuel, B.6
McDonald-McGinn, D.M.7
Zackai, E.H.8
-
152
-
-
0034037817
-
Research on behavioral phenotypes: Velocardiofacial syndrome (deletion 22q 11. 2)
-
Wang PP, Woodin MF, Kreps-Falk R, Moss EM (2000) Research on behavioral phenotypes: Velocardiofacial syndrome (deletion 22q 11.2). Dev Med Child Neuwl 42:422-427.
-
(2000)
Dev Med Child Neuwl
, vol.42
, pp. 422-427
-
-
Wang, P.P.1
Woodin, M.F.2
Kreps-Falk, R.3
Moss, E.M.4
-
153
-
-
0031924716
-
Growth hormone deficiency in patients with a 22ql 1.2 deletion: Expanding the phenotype
-
Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH (1998) Growth hormone deficiency in patients with a 22ql 1.2 deletion: Expanding the phenotype. Pediatrics 101:929-932.
-
(1998)
Pediatrics
, vol.101
, pp. 929-932
-
-
Weinzimer, S.A.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
Emanuel, B.S.4
Zackai, E.H.5
-
154
-
-
0026739254
-
A prospective cytogenetic study of 36 cases of DiGeorge syndrome
-
Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JFN, Walsh K, Bankier A, Burn J, Wolstenholme J (1992) A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am J Hum Genet 51:957-963.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 957-963
-
-
Wilson, D.I.1
Cross, I.E.2
Goodship, J.A.3
Brown, J.4
Scambler, P.J.5
Bain, H.H.6
Taylor, J.F.N.7
Walsh, K.8
Bankier, A.9
Burn, J.10
Wolstenholme, J.11
-
156
-
-
0035746483
-
Neuropsychological profile of children and adolescents with the 22ql 1.2 microdeletion
-
Woodin M, Wang PP, Aleman D, McDonald-McGinn D, Zackai E, Moss E (2001) Neuropsychological profile of children and adolescents with the 22ql 1.2 microdeletion. Genet Med 3:34-39.
-
(2001)
Genet Med
, vol.3
, pp. 34-39
-
-
Woodin, M.1
Wang, P.P.2
Aleman, D.3
McDonald-McGinn, D.4
Zackai, E.5
Moss, E.6
-
157
-
-
0036893811
-
Genitourinary malformations in chromosome 22qll.2 deletion
-
Wu H-Y, Rusnack SL, Bellah RD, Plachter N, McDonald-McGinn DM, Zackai EH, Canning DA (2002) Genitourinary malformations in chromosome 22qll.2 deletion. J Urol 168:2564-2565.
-
(2002)
J Urol
, vol.168
, pp. 2564-2565
-
-
Wu, H.Y.1
Rusnack, S.L.2
Bellah, R.D.3
Plachter, N.4
McDonald-McGinn, D.M.5
Zackai, E.H.6
Canning, D.A.7
-
158
-
-
10744223651
-
Role of TBX1 in human 22ql 1.2 syndrome
-
Yagi H, Furutani Y, Hamad H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S (2003) Role of TBX1 in human 22ql 1.2 syndrome. Lancet 362:1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamad, H.3
Sasaki, T.4
Asakawa, S.5
Minoshima, S.6
Ichida, F.7
Joo, K.8
Kimura, M.9
Imamura, S.10
-
159
-
-
0031904734
-
Phenotypic discordance in monozygotic twins with 22ql 1.2 deletion
-
Yamagishi H, Ishii C, Maeda J, Kojima Y, Matsuoka R, Kimura M, Takao A, Momma K, Matsuo N (1998) Phenotypic discordance in monozygotic twins with 22ql 1.2 deletion. Am J Med Genet 78:319-321.
-
(1998)
Am J Med Genet
, vol.78
, pp. 319-321
-
-
Yamagishi, H.1
Ishii, C.2
Maeda, J.3
Kojima, Y.4
Matsuoka, R.5
Kimura, M.6
Takao, A.7
Momma, K.8
Matsuo, N.9
-
160
-
-
0007482654
-
Chromosome 22ql 1.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired"
-
Yan W, Jacobsen LK, Krasnewich DM, Guan XY, Lenane MC, Paul SP, Dalwadi HN, Zhang H, Long RT, Kumra S, Martin BM, Scambler PJ, Trent JM, Sidransky E, Ginns El, Rapoport JL (1998) Chromosome 22ql 1.2 interstitial deletions among childhood-onset schizophrenics and "multidimensionally impaired". Am J Med Genet 81:41-43.
-
(1998)
Am J Med Genet
, vol.81
, pp. 41-43
-
-
Yan, W.1
Jacobsen, L.K.2
Krasnewich, D.M.3
Guan, X.Y.4
Lenane, M.C.5
Paul, S.P.6
Dalwadi, H.N.7
Zhang, H.8
Long, R.T.9
Kumra, S.10
Martin, B.M.11
Scambler, P.J.12
Trent, J.M.13
Sidransky, E.14
Ginns, E.L.15
Rapoport, J.L.16
-
161
-
-
33847196100
-
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q 11.2 deletions
-
Zweier C, Sticht H, Aydin-Jaylagul I, Campbell CE, Rauch A (2007) Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q 11.2 deletions. Am J Hum Genet 80:510-517.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 510-517
-
-
Zweier, C.1
Sticht, H.2
Aydin-Jaylagul, I.3
Campbell, C.E.4
Rauch, A.5
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