-
1
-
-
0026662962
-
Deletions and microdeletions of 22q11 in velo-cardio-facial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, et al. Deletions and microdeletions of 22q11 in velo-cardio-facial syndrome. Am J Med Genet 1992;44:261-8.
-
(1992)
Am J Med Genet
, vol.44
, pp. 261-268
-
-
Driscoll, D.A.1
Spinner, N.B.2
Budarf, M.L.3
-
3
-
-
0026511084
-
Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
-
Scambler PJ, Kelly D, Lindley E, et al. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet 1992;339:1138-9.
-
(1992)
Lancet
, vol.339
, pp. 1138-1139
-
-
Scambler, P.J.1
Kelly, D.2
Lindley, E.3
-
4
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
Bum J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 1993;30:813-17.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Bum, J.1
Takao, A.2
Wilson, D.3
-
5
-
-
0027984160
-
Cayler cardiofacial syndrome and del 22q11: Part of the CATCH 22 phenotype
-
Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B. Cayler cardiofacial syndrome and del 22q11: part of the CATCH 22 phenotype. Am J Med Genet 1994;53:303-1.
-
(1994)
Am J Med Genet
, vol.53
, pp. 303-311
-
-
Giannotti, A.1
Digilio, M.C.2
Marino, B.3
Mingarelli, R.4
Dallapiccola, B.5
-
8
-
-
0022520161
-
Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenic factor
-
Van Mierop LH, Kutsche LM. Cardiovascular anomalies in DiGeorge syndrome and importance of neural crest as a possible pathogenic factor. Am J Cardiol 1986;58:133-7.
-
(1986)
Am J Cardiol
, vol.58
, pp. 133-137
-
-
Van Mierop, L.H.1
Kutsche, L.M.2
-
9
-
-
0024149545
-
Incidence, frequency of types, and etiology of anorectal malformations
-
Smith E. Incidence, frequency of types, and etiology of anorectal malformations. Birth Defects 1988;24:231-16.
-
(1988)
Birth Defects
, vol.24
, pp. 231-316
-
-
Smith, E.1
-
10
-
-
0016641340
-
Cardiovascular malformations associated with imperforate anus
-
Greenwood RD, Rosenthal A, Nadas AS. Cardiovascular malformations associated with imperforate anus. J Pediatr 1975;86:576-9.
-
(1975)
J Pediatr
, vol.86
, pp. 576-579
-
-
Greenwood, R.D.1
Rosenthal, A.2
Nadas, A.S.3
-
12
-
-
0029148704
-
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion
-
McDonald-McGinn DM, Driscoll DA, Bason L, et al. Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. Am J Med Genet 1995;59:103-13.
-
(1995)
Am J Med Genet
, vol.59
, pp. 103-113
-
-
McDonald-McGinn, D.M.1
Driscoll, D.A.2
Bason, L.3
-
13
-
-
0028895193
-
Family studies in chromosome 22q11 deletion: Further demonstration of phenotypic heterogeneity
-
DeSilva D, Duffty P, Booth P, Auchterlonie I, Morrison N, Dean JC. Family studies in chromosome 22q11 deletion: further demonstration of phenotypic heterogeneity. Clin Dysmorphol 1995;4:294-303.
-
(1995)
Clin Dysmorphol
, vol.4
, pp. 294-303
-
-
DeSilva, D.1
Duffty, P.2
Booth, P.3
Auchterlonie, I.4
Morrison, N.5
Dean, J.C.6
-
14
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
-
Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56.
-
(1978)
Cleft Palate J
, vol.15
, pp. 56
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
-
16
-
-
0027228303
-
Deletions of human chromosome 22 and associated defects
-
Scambler P. Deletions of human chromosome 22 and associated defects. Curr Opin Genet Dev 1993;3:432-7.
-
(1993)
Curr Opin Genet Dev
, vol.3
, pp. 432-437
-
-
Scambler, P.1
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