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Volumn , Issue , 2010, Pages 263-284

Deletion 22q11.2 (Velo-Cardio-Facial Syndrome/Digeorge Syndrome)

Author keywords

22q112 deletion; Cayler cardiofacial syndrome; Crying facies syndrome; DiGeorge syndrome; Immune deficiency

Indexed keywords


EID: 84869127346     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470893159.ch20     Document Type: Chapter
Times cited : (6)

References (161)
  • 2
    • 21344471660 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 5
    • 0032503887 scopus 로고    scopus 로고
    • 22qll Deletion syndrome in adults with schizophrenia
    • Bassett AS, Hodgkinson K, Chow EWC (1998) 22qll Deletion syndrome in adults with schizophrenia. Am J Med Genet 81:328-337.
    • (1998) Am J Med Genet , vol.81 , pp. 328-337
    • Bassett, A.S.1    Hodgkinson, K.2    Chow, E.W.C.3
  • 8
    • 2942709617 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 15
    • 3142720255 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 20
    • 84927009421 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 23
    • 25644454373 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 26
    • 0032871644 scopus 로고    scopus 로고
    • Phenotype of adults with the 22q deletion syndrome: A review
    • Cohen E, Chow EWC, Weksberg R, Bassett AS (1999) Phenotype of adults with the 22q deletion syndrome: A review. Am J Med Genet 86:359-365.
    • (1999) Am J Med Genet , vol.86 , pp. 359-365
    • Cohen, E.1    Chow, E.W.C.2    Weksberg, R.3    Bassett, A.S.4
  • 29
    • 0034839553 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 31
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • De la Chapelle A, Herva R, Koivisto M, Aula P (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57:253-256.
    • (1981) Hum Genet , vol.57 , pp. 253-256
    • De la Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, P.4
  • 34
    • 0037245285 scopus 로고    scopus 로고
    • 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
  • 39
    • 0026750771 scopus 로고
    • 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
  • 41
    • 0027370619 scopus 로고
    • 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
  • 44
    • 0033358588 scopus 로고    scopus 로고
    • 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
  • 47
    • 0002184364 scopus 로고    scopus 로고
    • 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
  • 52
    • 0034011429 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 60
    • 33645072829 scopus 로고    scopus 로고
    • 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
  • 64
    • 0031671548 scopus 로고    scopus 로고
    • 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
  • 66
    • 0026665913 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 79
    • 0031554756 scopus 로고    scopus 로고
    • 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
  • 81
    • 33645060047 scopus 로고    scopus 로고
    • 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
  • 83
    • 0345193776 scopus 로고    scopus 로고
    • 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
  • 85
    • 1442280674 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 89
    • 0031659846 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 92
    • 0029833528 scopus 로고    scopus 로고
    • 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
  • 99
    • 33645068700 scopus 로고    scopus 로고
    • 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
  • 107
    • 0029665182 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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
  • 111
    • 0032882849 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 117
    • 0028092829 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 123
    • 0029854475 scopus 로고    scopus 로고
    • 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
  • 126
    • 0036590315 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 130
    • 0026782016 scopus 로고
    • 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
  • 132
    • 33645070380 scopus 로고    scopus 로고
    • 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
  • 135
    • 0031833947 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 138
    • 65249102937 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 144
    • 0031009068 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 147
    • 84886030593 scopus 로고    scopus 로고
    • 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
  • 152
    • 0034037817 scopus 로고    scopus 로고
    • 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
  • 156
    • 0035746483 scopus 로고    scopus 로고
    • 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
  • 161
    • 33847196100 scopus 로고    scopus 로고
    • 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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