-
1
-
-
0028990403
-
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
-
Amati F, Mari A, Digilio MC, et al. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet 1995;95: 479-82.
-
(1995)
Hum Genet
, vol.95
, pp. 479-482
-
-
Amati, F.1
Mari, A.2
Digilio, M.C.3
-
2
-
-
0031052948
-
Microstellate DNA markers detect 95% of chromosome 22q11 deletions
-
Bonnet D, Cormier-Daire V, Kachaner J, et al. Microstellate DNA markers detect 95% of chromosome 22q11 deletions. Am J Med Genet 1997;68:182-4.
-
(1997)
Am J Med Genet
, vol.68
, pp. 182-184
-
-
Bonnet, D.1
Cormier-Daire, V.2
Kachaner, J.3
-
3
-
-
0029860826
-
Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability: A survey based on the Danish Facial Cleft Register
-
Brondum-Nielsen K, Christensen K. Chromosome 22q11 deletion and other chromosome aberrations in cases with cleft palate, congenital heart defects and/or mental disability: a survey based on the Danish Facial Cleft Register. Clin Genet 1996;50:116-20.
-
(1996)
Clin Genet
, vol.50
, pp. 116-120
-
-
Brondum-Nielsen, K.1
Christensen, K.2
-
4
-
-
0029552859
-
Terminal deletion in chromosome region 8p23.1 in a child with features of velo-cardio-facial syndrome
-
Devriendt K, De Mars K, De Cock P, Gewillig M, Fryns JP. Terminal deletion in chromosome region 8p23.1 in a child with features of velo-cardio-facial syndrome. Ann Genet 1995;38:228-30.
-
(1995)
Ann Genet
, vol.38
, pp. 228-230
-
-
Devriendt, K.1
De Mars, K.2
De Cock, P.3
Gewillig, M.4
Fryns, J.P.5
-
5
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
-
Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J Med Genet 1993;30:813-7.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
-
6
-
-
0002260670
-
Phenotypic overlap between velo-cardio-facial syndrome (VCF) and the DiGeorge sequence (DGS)
-
Goldberg R, Marion R, Borderon M, Wiznia A, Shprintzen RJ. Phenotypic overlap between velo-cardio-facial syndrome (VCF) and the DiGeorge sequence (DGS). Am J Hum Genet 1985;37 (suppl):A54.
-
(1985)
Am J Hum Genet
, vol.37
, Issue.SUPPL.
-
-
Goldberg, R.1
Marion, R.2
Borderon, M.3
Wiznia, A.4
Shprintzen, R.J.5
-
7
-
-
0027459424
-
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11
-
Kelly D, Goldberg G, Wilson D, et al. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am J Med Genet 1993;45:308-12.
-
(1993)
Am J Med Genet
, vol.45
, pp. 308-312
-
-
Kelly, D.1
Goldberg, G.2
Wilson, D.3
-
8
-
-
0029745410
-
Association of codon 108/158 catechol-o-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome
-
Lachman HM, Morrow B, Shprintzen R, et al. Association of codon 108/158 catechol-o-methyltransferase gene polymorphism with the psychiatric manifestations of velo-cardio-facial syndrome. Am J Med Genet 1996;67:468-72.
-
(1996)
Am J Med Genet
, vol.67
, pp. 468-472
-
-
Lachman, H.M.1
Morrow, B.2
Shprintzen, R.3
-
9
-
-
0029835883
-
Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13: Implications for cytogenetics and molecular biology
-
Lipson A, Fagan K, Colley A, et al. Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13: implications for cytogenetics and molecular biology. Am J Med Genet 1996;65:304-8.
-
(1996)
Am J Med Genet
, vol.65
, pp. 304-308
-
-
Lipson, A.1
Fagan, K.2
Colley, A.3
-
10
-
-
0025833053
-
Velocardiofacial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognize
-
Lipson A, Yuille D, Angel M, Thompson P, Vandervoord J, Beckenham E. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. J Med Genet 1991;28:596-604.
-
(1991)
J Med Genet
, vol.28
, pp. 596-604
-
-
Lipson, A.1
Yuille, D.2
Angel, M.3
Thompson, P.4
Vandervoord, J.5
Beckenham, E.6
-
11
-
-
0030481881
-
Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome
-
Pierpont JW, Erickson RP, Thompson FH, Yang JM. Size of 22q deletions in four previously reported patients with conotruncal anomaly face syndrome. Clin Genet 1996;50:545-7.
-
(1996)
Clin Genet
, vol.50
, pp. 545-547
-
-
Pierpont, J.W.1
Erickson, R.P.2
Thompson, F.H.3
Yang, J.M.4
-
12
-
-
0025796855
-
Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
-
Scambler PJ, Carey AH, Wyse RK, et al. Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome. Genomics 1991:10:201-6.
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scambler, P.J.1
Carey, A.H.2
Wyse, R.K.3
-
13
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
-
Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56-62.
-
(1978)
Cleft Palate J
, vol.15
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
Sidoti, E.J.4
Berkman, M.D.5
Argamaso, R.V.6
-
14
-
-
9244234494
-
Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome
-
Sirotkin H, Morrow B, DasGupta R, et al. Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome. Hum Mol Genet 1996;5:617-24.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 617-624
-
-
Sirotkin, H.1
Morrow, B.2
DasGupta, R.3
-
15
-
-
0030951648
-
Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad / velocardiofacial syndrome / conotruncal anomaly face syndrome)
-
Sullivan KE, McDonald-McGinn DM, Driscoll DA, et al. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad / velocardiofacial syndrome / conotruncal anomaly face syndrome). Arthritis Rheum 1997;40: 430-6.
-
(1997)
Arthritis Rheum
, vol.40
, pp. 430-436
-
-
Sullivan, K.E.1
McDonald-McGinn, D.M.2
Driscoll, D.A.3
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