-
2
-
-
0027373693
-
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
-
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 22q11. 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
-
4
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 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, Mascerello JT, Emanuel BS. 1992. Deletions and microdeletions of 22q11.2 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
Mascerello, J.T.11
Emanuel, B.S.12
-
5
-
-
0029925662
-
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
-
Fryburg JS, Lin KY, Golden WL. 1996. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) 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, W.L.3
-
6
-
-
0027984160
-
Cayler cardiofacial syndrome and deletion 22q11. Part of the CATCH22 phenotype
-
Giannotti A, Diglio MC, Marion R, Mingarelli R, Dallapiccola B. 1994. Cayler cardiofacial syndrome and deletion 22q11. Part of the CATCH22 phenotype. Am J Med Genet 53:303-304.
-
(1994)
Am J Med Genet
, vol.53
, pp. 303-304
-
-
Giannotti, A.1
Diglio, M.C.2
Marion, R.3
Mingarelli, R.4
Dallapiccola, B.5
-
7
-
-
0027400375
-
Velo-cardio-facial syndrome: A review of 120 patients
-
Goldberg R, Motskin 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
Motskin, B.2
Marion, R.3
Scambler, P.J.4
Shprintzen, R.J.5
-
9
-
-
0027442395
-
Microdeletions of chromosomal region 22q11.2 in patients with congenital conotruncal cardiac defects
-
Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn D, Biegel JA, Emmanuel BS. 1993. Microdeletions of chromosomal region 22q11.2 in patients with congenital conotruncal cardiac defects. J Med Genet 30:807-812.
-
(1993)
J Med Genet
, vol.30
, pp. 807-812
-
-
Goldmuntz, E.1
Driscoll, D.2
Budarf, M.L.3
Zackai, E.H.4
McDonald-McGinn, D.5
Biegel, J.A.6
Emmanuel, B.S.7
-
10
-
-
0025833053
-
Velocardiofacial (Shprintzen) syndrome: An important syndrome for the dysmorphologist to recognize
-
Lipson AH, Yuille D, Angel M, Thompson PG, Vandervoord JG, Beckenham, EJ. 1991. Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognize. J Med Genet 28:596-604.
-
(1991)
J Med Genet
, vol.28
, pp. 596-604
-
-
Lipson, A.H.1
Yuille, D.2
Angel, M.3
Thompson, P.G.4
Vandervoord, J.G.5
Beckenham, E.J.6
-
11
-
-
0029148704
-
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 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 22q11.2 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
-
12
-
-
0031291657
-
The 22q11.2 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, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, Driscoll D, Clark BJ III, Markowitz R, Cohen A, Moshang T, Pasquariello P, Randall P, Emanuel BS, Zackai EH. 1997. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1:99-107.
-
(1997)
Genet Test
, vol.1
, pp. 99-107
-
-
McDonald-McGinn, D.M.1
LaRossa, D.2
Goldmuntz, E.3
Sullivan, K.4
Eicher, P.5
Gerdes, M.6
Moss, E.7
Wang8
Solot, C.9
Schultz, P.10
Lynch, D.11
Bingham, P.12
Keenan, G.13
Weinzimer, S.14
Ming, J.E.15
Driscoll, D.16
Clark B.J. III17
Markowitz, R.18
Cohen, A.19
Moshang, T.20
Pasquariello, P.21
Randall, P.22
Emanuel, B.S.23
Zackai, E.H.24
more..
-
15
-
-
0031989472
-
Early intervention and early experience
-
February
-
Ramey C, Ramey SL. 1998. Early intervention and early experience. Am Psychol February, 109-120.
-
(1998)
Am Psychol
, pp. 109-120
-
-
Ramey, C.1
Ramey, S.L.2
-
16
-
-
0025796855
-
Microdeletions within 22 associated with sporadic and familial DiGeorge syndrome
-
Scrambler PJ, Carey AH, Wyse RKH, Roach S, Dumanski JP, Nordenskjold M, Williamson R. 1991. Microdeletions within 22 associated with sporadic and familial DiGeorge syndrome. Genomics 10:201-206.
-
(1991)
Genomics
, vol.10
, pp. 201-206
-
-
Scrambler, P.J.1
Carey, A.H.2
Wyse, R.K.H.3
Roach, S.4
Dumanski, J.P.5
Nordenskjold, M.6
Williamson, R.7
-
19
-
-
0031009068
-
Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
-
Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. 1997. Intelligence and psychosocial 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
Eyskens, B.4
Dumoulin, M.5
Gewillig, M.6
Fryns, J.P.7
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