-
1
-
-
0028990403
-
22q11 deletions in isolated and syndromic patients with tetralogy of Fallot
-
Amati F, Mari A, Digilio MC, Mingarelli R, Marino B, Giannotti A, Novelli G, Dallapiccola B. 1995. 22q11 deletions in isolated and syndromic patients with tetralogy of Fallot. Hum Genet 95:479-482.
-
(1995)
Hum Genet
, vol.95
, pp. 479-482
-
-
Amati, F.1
Mari, A.2
Digilio, M.C.3
Mingarelli, R.4
Marino, B.5
Giannotti, A.6
Novelli, G.7
Dallapiccola, B.8
-
2
-
-
0031784724
-
Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome
-
Can B, Qu Y, Jackson LG, Floyd M, Say B. 1998. Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome. Clin Genet 54:371-372.
-
(1998)
Clin Genet
, vol.54
, pp. 371-372
-
-
Can, B.1
Qu, Y.2
Jackson, L.G.3
Floyd, M.4
Say, B.5
-
3
-
-
37649026311
-
Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism
-
Derbent M, Saygili A, Yilmaz Z, Kervancioglu M, Balci S, Tokel K. 2002. Co-occurrence of chromosome 22q11.2 microdeletion and trisomy 21 mosaicism. Am J Med Genet 112:99-102.
-
(2002)
Am J Med Genet
, vol.112
, pp. 99-102
-
-
Derbent, M.1
Saygili, A.2
Yilmaz, Z.3
Kervancioglu, M.4
Balci, S.5
Tokel, K.6
-
4
-
-
0028145941
-
Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype
-
Digilio MC, Mingarelli R, Marino B, Giannotti A, Melchionda S, Dallapiccola B. 1994. Congenital cardiac defect in a patient with mosaic 45,X/46,XX,i(21q) karyotype. Clin Genet 46:268-270.
-
(1994)
Clin Genet
, vol.46
, pp. 268-270
-
-
Digilio, M.C.1
Mingarelli, R.2
Marino, B.3
Giannotti, A.4
Melchionda, S.5
Dallapiccola, B.6
-
5
-
-
0030585691
-
Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia
-
Digilio MC, Marino B, Grazioli S, Agostino D, Giannotti A, Dallapiccola B. 1996. Comparison of occurrence of genetic syndromes in ventricular septal defect with pulmonic stenosis (classic tetralogy of Fallot) versus ventricular septal defect with pulmonic atresia. Am J Cardiol 77:1375-1376.
-
(1996)
Am J Cardiol
, vol.77
, pp. 1375-1376
-
-
Digilio, M.C.1
Marino, B.2
Grazioli, S.3
Agostino, D.4
Giannotti, A.5
Dallapiccola, B.6
-
6
-
-
0031732657
-
Congenital heart defect in sibs with discordant karyotypes
-
Digilio MC, Marino B, Canepa SA, Borzaga U, Giannotti A, Dallapiccola B. 1998. Congenital heart defect in sibs with discordant karyotypes. Am J Med Genet 80:169-172.
-
(1998)
Am J Med Genet
, vol.80
, pp. 169-172
-
-
Digilio, M.C.1
Marino, B.2
Canepa, S.A.3
Borzaga, U.4
Giannotti, A.5
Dallapiccola, B.6
-
7
-
-
0032999573
-
Atrioventricular canal defect without Down syndrome: A heterogeneous malformation
-
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 1999. Atrioventricular canal defect without Down syndrome: A heterogeneous malformation. Am J Med Genet 85:140-146.
-
(1999)
Am J Med Genet
, vol.85
, pp. 140-146
-
-
Digilio, M.C.1
Marino, B.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
9
-
-
0029868801
-
Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot
-
Marino B, Digilio MC, Grazioli S, Formigari R, Mingarelli R, Giannotti A, Dallapiccola B. 1996. Associated cardiac anomalies in isolated and syndromic patients with tetralogy of Fallot. Am J Cardiol 77:505-508.
-
(1996)
Am J Cardiol
, vol.77
, pp. 505-508
-
-
Marino, B.1
Digilio, M.C.2
Grazioli, S.3
Formigari, R.4
Mingarelli, R.5
Giannotti, A.6
Dallapiccola, B.7
-
10
-
-
0033041096
-
Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and de122q11
-
Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B. 1999. Congenital heart defects in patients with DiGeorge/velocardiofacial syndrome and de122q11. Genet Couns 10:25-33.
-
(1999)
Genet Couns
, vol.10
, pp. 25-33
-
-
Marino, B.1
Digilio, M.C.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
11
-
-
0034639306
-
Fragile X syndrome and 22q11.2 microdeletion in the same sibship
-
Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N. 2000. Fragile X syndrome and 22q11.2 microdeletion in the same sibship. Am J Med Genet 95:358-360.
-
(2000)
Am J Med Genet
, vol.95
, pp. 358-360
-
-
Missirian, C.1
Moncla, A.2
Voelckel, M.A.3
Ravix, V.4
Philip, N.5
-
12
-
-
0031971619
-
Prenatal diagnosis by FISH of a 22q11 deletion in two families
-
Portnoi M-F, Joyé N, Gonzales M, Demczuk S, Fermont L, Gaillard G, Bercau G, Morlier G, Taillemite J-L. 1998. Prenatal diagnosis by FISH of a 22q11 deletion in two families. J Med Genet 35:165-168.
-
(1998)
J Med Genet
, vol.35
, pp. 165-168
-
-
Portnoi, M.-F.1
Joyé, N.2
Gonzales, M.3
Demczuk, S.4
Fermont, L.5
Gaillard, G.6
Bercau, G.7
Morlier, G.8
Taillemite, J.-L.9
-
13
-
-
0033798430
-
Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome
-
Velagaleti GV, Kumar A, Lockhart LH, Matalon R. 2000. Patent ductus arteriosus and microdeletion 22q11 in a patient with Klinefelter syndrome. Ann Genet 43:105-107.
-
(2000)
Ann Genet
, vol.43
, pp. 105-107
-
-
Velagaleti, G.V.1
Kumar, A.2
Lockhart, L.H.3
Matalon, R.4
|