Indexed keywords
ARTICLE;
CHILD;
CHINESE;
CHROMOSOME 22Q;
CHROMOSOME DELETION;
CHROMOSOME MOSAICISM;
CLINICAL ARTICLE;
CONGENITAL HEART MALFORMATION;
FALLOT TETRALOGY;
FEMALE;
FLUORESCENCE IN SITU HYBRIDIZATION;
GENE MUTATION;
GENOTYPE;
GREAT VESSELS TRANSPOSITION;
HEART MUSCLE CELL;
HEART RIGHT VENTRICLE DOUBLE OUTLET;
HEART VENTRICLE SEPTUM DEFECT;
HUMAN;
INFANT;
LUNG ATRESIA;
MALE;
PRIORITY JOURNAL;
SHORT TANDEM REPEAT;
CHILD;
CHILD, PRESCHOOL;
CHROMOSOME DELETION;
CHROMOSOME MAPPING;
CHROMOSOMES, HUMAN, PAIR 22;
FEMALE;
HEART DEFECTS, CONGENITAL;
HEART SEPTAL DEFECTS, VENTRICULAR;
HEART VENTRICLES;
HUMANS;
INFANT;
MALE;
TETRALOGY OF FALLOT;
1
0031052948
Microsatellite DNA markers detects 95% of chromosome 22q11 deletions
Bonnet D, Cormier-Daire V, Kachaner J, et al. 1997. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions. Am J Med Genet 68:182-184.
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Am J Med Genet , vol.68
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Bonnet, D.1
Cormier-Daire, V.2
Kachaner, J.3
2
17444434198
Frequency of 22q11 deletions in patients with conotruncal defects
Goldmuntz E, Clark BJ, Mitchell LE, et al. 1998. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol 32:492-498.
(1998)
J Am Coll Cardiol , vol.32
, pp. 492-498
Goldmuntz, E.1
Clark, B.J.2
Mitchell, L.E.3
3
0036467159
Association of tetralogy of Fallot with a distinct region of de122q11.2
Kessler-Icekson G, Birk E, Weintraub AY et al. 2002. Association of tetralogy of Fallot with a distinct region of de122q11.2. Am J Med Genet 107:294-298.
(2002)
Am J Med Genet , vol.107
, pp. 294-298
Kessler-Icekson, G.1
Birk, E.2
Weintraub, A.Y.3
4
17144468115
Frequent association of 22q11.2 deletion with tetralogy of Fallot
Maeda J, Yamagishi H, Matsuoka R, et al. 2000. Frequent association of 22q11.2 deletion with tetralogy of Fallot. Am J Med Genet 92:269-272.
(2000)
Am J Med Genet , vol.92
, pp. 269-272
Maeda, J.1
Yamagishi, H.2
Matsuoka, R.3
5
0035746361
Anatomic patterns of conotruncal defects associated with deletion 22q11
Marino B, Digilio MC, Toscano A, et al. 2001. Anatomic patterns of conotruncal defects associated with deletion 22q11. Genet Med 3:45-48.
(2001)
Genet Med , vol.3
, pp. 45-48
Marino, B.1
Digilio, M.C.2
Toscano, A.3
6
0033033492
The Philadelphia story: The 22q11.2 deletion: Report on 250 patients
McDonald-McGinn DM, Kirschner R, Goldmuntz E, et al. 1999. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns 10:11-24.
(1999)
Genet Couns , vol.10
, pp. 11-24
McDonald-McGinn, D.M.1
Kirschner, R.2
Goldmuntz, E.3
7
0029033626
Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome
Morrow B, Goldberg R, Carlson C, et al. 1995. Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am J Hum Genet 56: 1391-1403.
(1995)
Am J Hum Genet , vol.56
, pp. 1391-1403
Morrow, B.1
Goldberg, R.2
Carlson, C.3
8
0036889598
Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes)
Perez E, Sullivan KE. 2002. Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes). Curr Opin Pediatr 14:678-683.
(2002)
Curr Opin Pediatr , vol.14
, pp. 678-683
Perez, E.1
Sullivan, K.E.2
9
16944364802
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
Ryan AK, Goodship JA, Wilson DI, et al. 1997. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798-804.
(1997)
J Med Genet , vol.34
, pp. 798-804
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
10
0036315456
Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semi-quantitative polymerase chain reaction method
Shi YR, Hsieh KS, Wu JY, et al. 2002. Molecular analysis of syndromic congenital heart disease using short tandem repeat markers and semi-quantitative polymerase chain reaction method. Pediatr Int 44:264-268.
(2002)
Pediatr Int , vol.44
, pp. 264-268
Shi, Y.R.1
Hsieh, K.S.2
Wu, J.Y.3
11
0036596250
The 22q11.2 deletion syndrome
Yamagishi H. 2002. The 22q11.2 deletion syndrome. Keio J Med 51:77-88.
(2002)
Keio J Med , vol.51
, pp. 77-88
Yamagishi, H.1
12
0141458167
Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome
Yamagishi H, Srivastava D. 2003. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med 9:383-389.
(2003)
Trends Mol Med , vol.9
, pp. 383-389
Yamagishi, H.1
Srivastava, D.2
