-
5
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge, and Velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
Budarf, M.L.4
McDonald-McGinn, D.M.5
Zackai, E.H.6
Emanuel, B.S.7
-
7
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
-
(1995)
Am J Med Genet
, vol.53
, pp. 285-289
-
-
Matsuoka, R.1
Takao, A.2
Kimura, M.3
Imamura, S.4
Kondo, C.5
Joh-o, K.6
Ikeda, K.7
Nishibatake, M.8
Ando, M.9
Momma, K.10
-
8
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Levy, P.N.4
Seidel, H.5
Schuffenhauer, S.6
Oechsler, H.7
Belohradsky, B.8
Prieur, M.9
Aurias, A.10
Raymond, F.L.11
Clayton-Smith, J.12
Hatchwell, E.13
McKeown, C.14
Beemer, F.A.15
Dallapiccola, B.16
Novelli, G.17
Hurst, J.A.18
Ignatius, J.19
Greeen, A.J.20
Winter, R.M.21
Brueton, L.22
Brondum-Neilsen, K.23
Stewart, F.24
Van Essen, T.25
Patton, M.26
Paterson, J.27
Scrambler, P.J.28
more..
-
9
-
-
0027965605
-
"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcemia: CATCH 22. A common results of 22q11 deficiency?
-
(1994)
J Med Genet
, vol.31
, pp. 741
-
-
Lipson, A.1
Emmanuel, B.2
Colley, P.3
Fagan, K.4
Driscoll, D.5
-
14
-
-
0030041944
-
Monozygotic twins with 22q11 deletion and discordant phenotypes
-
(1996)
J Med Genet
, vol.33
, pp. 173
-
-
Fryer, A.1
-
15
-
-
0031904734
-
Phenotypic discordance in monozygotic twins with 22q11.2 deletion
-
(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
Matsuo, N.8
-
18
-
-
0028990403
-
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
-
(1995)
Hum Genet
, vol.95
, pp. 479-482
-
-
Amati, F.1
Mari, A.2
Diglio, M.C.3
Mingarelli, R.4
Marino, B.5
Giannotti, A.6
Novelli, G.7
Dallapiccola, B.8
-
20
-
-
0010010759
-
Very long term follow-up (22-42 years) after correction of tetralogy of Fallot: Transient complete heart block is associated with increased risk of late sudden death
-
[Abstract]
-
(1998)
J Am Coll Cardiol
, vol.31
-
-
Hokanson, J.S.1
Moller, J.H.2
-
21
-
-
17444434198
-
Frequency of 22q11 deletions in patients with conotruncal defects
-
(1998)
J Am Coll Cardiol
, vol.32
, pp. 492-498
-
-
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
Jawad, A.J.4
Cuneo, B.F.5
Reed, L.6
McDonald-McGinn, D.7
Chein, P.8
Feuer, J.9
Zackai, E.H.10
Emanuel, B.S.11
Driscoll, D.A.12
-
22
-
-
0029817469
-
Importance of microdeletions of 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: A three-year prospective study
-
(1996)
J Pediatr
, vol.129
, pp. 26-32
-
-
Webber, S.1
Hatchwell, I.2
Barber, J.C.K.3
Daubeney, P.E.F.4
Crolla, J.A.5
Salmon, A.P.6
Keeton, B.R.7
Temple, I.K.8
Dennis, N.R.9
-
24
-
-
0031920989
-
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect
-
(1998)
Heart
, vol.79
, pp. 186-190
-
-
Chessa, M.1
Butera, G.2
Bonhoeffer, P.3
Iserin, L.4
Kachaner, J.5
Lyonnet, S.6
Munnich, A.7
Sidi, D.8
Bonnet, D.9
-
26
-
-
0032007010
-
Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome)
-
(1998)
Clin Immunol Immunopathol
, vol.86
, pp. 141-146
-
-
Sullivan, K.E.1
Jawad, A.F.2
Randall, P.3
Driscoll, D.4
Emmanuel, B.S.5
McDonald-Ginn, D.M.6
Zackai, E.H.7
-
31
-
-
13344269004
-
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion
-
(1996)
Hum Genet
, vol.97
, pp. 138-144
-
-
Debrus, S.1
Berger, G.2
De Meeus, A.3
Sauer, U.4
Guillaumont, A.5
Voisin, M.6
Bozio, A.7
Demczuk, S.8
Aurias, A.9
Bouvagnet, P.10
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