-
1
-
-
16644383757
-
Conotruncal heart defects: Impact of genetic syndromes on immediate operative mortality
-
Anaclerio S, Di Ciommo V, Michielon G, Digilio MC, Formigari R, Picchio FM, Garguilo G, Di Donato R, De Ioris MA, Marino B (2004) Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J 5:624-628
-
(2004)
Ital Heart J
, vol.5
, pp. 624-628
-
-
Anaclerio, S.1
Di Ciommo, V.2
Michielon, G.3
Digilio, M.C.4
Formigari, R.5
Picchio, F.M.6
Garguilo, G.7
Di Donato, R.8
De Ioris, M.A.9
Marino, B.10
-
2
-
-
0037238794
-
Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion
-
Barrea C, Yoo SJ, Chitayat D, Valsangiacomo E, Winsor E, Smallhorn JF, Hornberger LK (2003) Assessment of the thymus at echocardiography in fetuses at risk for 22q11.2 deletion. Prenat Diagn 23:9-15
-
(2003)
Prenat Diagn
, vol.23
, pp. 9-15
-
-
Barrea, C.1
Yoo, S.J.2
Chitayat, D.3
Valsangiacomo, E.4
Winsor, E.5
Smallhorn, J.F.6
Hornberger, L.K.7
-
3
-
-
27444447025
-
Clinical features of 78 adults with 22q11 deletion syndrome
-
Bassett AS, Chow EWC, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA (2005) Clinical features of 78 adults with 22q11 deletion syndrome. Am J Med Gen 138A:307-313
-
(2005)
Am J Med Gen
, vol.138
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.C.2
Husted, J.3
Weksberg, R.4
Caluseriu, O.5
Webb, G.D.6
Gatzoulis, M.A.7
-
4
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
Botto LD, May K, Fernhoff PM, Correa A, Coleman K, Rasmussen SA, Merritt RK, O'Leary LA, Wong LY, Elixson EM, Mahle WT, Campbell RM (2003) A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112:101-107
-
(2003)
Pediatrics
, vol.112
, pp. 101-107
-
-
Botto, L.D.1
May, K.2
Fernhoff, P.M.3
Correa, A.4
Coleman, K.5
Rasmussen, S.A.6
Merritt, R.K.7
O'Leary, L.A.8
Wong, L.Y.9
Elixson, E.M.10
Mahle, W.T.11
Campbell, R.M.12
-
5
-
-
0035054210
-
Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: A 6-year prospective study
-
Boudjemline Y, Fermont L, Le Bidois J, Lyonnet S, Sidi D, Bonnet D (2001) Prevalence of 22q11 deletion in fetuses with conotruncal cardiac defects: a 6-year prospective study. J Pediatr 138:520-524
-
(2001)
J Pediatr
, vol.138
, pp. 520-524
-
-
Boudjemline, Y.1
Fermont, L.2
Le Bidois, J.3
Lyonnet, S.4
Sidi, D.5
Bonnet, D.6
-
6
-
-
0034896055
-
Truncus arteriosus repair: Outcomes, risk factors, reoperation, and management
-
Brown JW, Ruzmetov M, Okada Y, Vijay P, Turrentine MW (2001) Truncus arteriosus repair: outcomes, risk factors, reoperation, and management. Eur J Cardiothorac Surg 20:221-227
-
(2001)
Eur J Cardiothorac Surg
, vol.20
, pp. 221-227
-
-
Brown, J.W.1
Ruzmetov, M.2
Okada, Y.3
Vijay, P.4
Turrentine, M.W.5
-
7
-
-
0345356345
-
Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of Fallot with pulmonary atresia
-
Carotti A, Marino B, DiDonato RM (2003) Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of Fallot with pulmonary atresia. J Thorac Cardiovasc Surg 126:1666-1667
-
(2003)
J Thorac Cardiovasc Surg
, vol.126
, pp. 1666-1667
-
-
Carotti, A.1
Marino, B.2
Didonato, R.M.3
-
8
-
-
0031920989
-
Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect
-
Chessa M, Butera G, Bonhoeffer P, Iserin L, Kachaner J, Lyonnet S, Munnich A, Sidi D, Bonnet D (1998) Relation of genotype 22q11 deletion to phenotype of pulmonary vessels in tetralogy of Fallot and pulmonary atresia-ventricular septal defect. Heart 79:186-190
-
(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
-
9
-
-
0036658310
-
Early and long-term results of the surgical treatment of tetralogy of Fallot with pulmonary atresia, with or without major aortopulmonary collateral arteries
-
Cho JM, Puga FJ, Danielson GK, Dearani JA, Mair DD, Hagler DJ, Julsrud PR, Ilstrup DM (2002) Early and long-term results of the surgical treatment of tetralogy of Fallot with pulmonary atresia, with or without major aortopulmonary collateral arteries. J Thorac Cardiovasc Surg 124:70-81
-
(2002)
J Thorac Cardiovasc Surg
, vol.124
, pp. 70-81
-
-
Cho, J.M.1
Puga, F.J.2
Danielson, G.K.3
Dearani, J.A.4
Mair, D.D.5
Hagler, D.J.6
Julsrud, P.R.7
Ilstrup, D.M.8
-
10
-
-
0032709613
-
Guidelines for 22q11 deletion screening of patients with conotruncal defects
-
Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B (1999) Guidelines for 22q11 deletion screening of patients with conotruncal defects. J Am Coll Cardiol 33:1746-1748
-
(1999)
J Am Coll Cardiol
, vol.33
, pp. 1746-1748
-
-
Digilio, M.C.1
Marino, B.2
Giannotti, A.3
Mingarelli, R.4
Dallapiccola, B.5
-
11
-
-
0026662962
-
Deletions and microdeletions of 22q11.2 in velocardiofacial syndrome
-
Driscoll DA, Spinner NB, Budarf ML, McDonald-McGinn DM, Zackai EH, Goldberg RB, Shprintzen RJ, Saal HM, Zonana J, Jones MC (1992) Deletions and microdeletions of 22q11.2 in velocardiofacial 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
-
12
-
-
0037084412
-
Psychiatric disorders and behavioural problems in children with velocardiofacial syndrome: Usefulness as phenotypic indicators of schizophrenia risk
-
Feinstein C, Eliez S, Blasey C, Reiss AL (2002) Psychiatric disorders and behavioural problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Biol Psychiatry 51:312-318
-
(2002)
Biol Psychiatry
, vol.51
, pp. 312-318
-
-
Feinstein, C.1
Eliez, S.2
Blasey, C.3
Reiss, A.L.4
-
13
-
-
0031881461
-
22q11.2 deletions in a series of patients with nonselective congenital heart defects: Incidence, type of defects, and parental origin
-
Fokstuen S, Arbenz U, Artan S, Dutly F, Bauersfeld U, Brecevic L, Fasnacht M, Rothlisberger B, Schinzel A (1998) 22q11.2 deletions in a series of patients with nonselective congenital heart defects: incidence, type of defects, and parental origin. Clin Genet 53:63-69
-
(1998)
Clin Genet
, vol.53
, pp. 63-69
-
-
Fokstuen, S.1
Arbenz, U.2
Artan, S.3
Dutly, F.4
Bauersfeld, U.5
Brecevic, L.6
Fasnacht, M.7
Rothlisberger, B.8
Schinzel, A.9
-
14
-
-
0027442395
-
Mircrodeletion of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects
-
Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS (1993) Mircrodeletion of chromosomal region 22q11 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.M.5
Biegel, J.A.6
Emanuel, B.S.7
-
15
-
-
10744221156
-
The influence of pulmonary artery morphology on the results of operations for major aortopulmonary collateral arteries and complex congenital heart defects
-
Griselli M, McGuirk SP, Winlaw DS, Stumper O, de Giovanni JV, Miller P, Dhillon R, Wright JG, Barron DJ, Brawn WJ (2004) The influence of pulmonary artery morphology on the results of operations for major aortopulmonary collateral arteries and complex congenital heart defects. J Thorac Cardiovasc Surg 127:251-258
-
(2004)
J Thorac Cardiovasc Surg
, vol.127
, pp. 251-258
-
-
Griselli, M.1
McGuirk, S.P.2
Winlaw, D.S.3
Stumper, O.4
De Giovanni, J.V.5
Miller, P.6
Dhillon, R.7
Wright, J.G.8
Barron, D.J.9
Brawn, W.J.10
-
16
-
-
0031765831
-
Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies
-
Iserin L, de Lonlay P, Viot G, Sidi D, Kachaner J, Munnich A, Lyonnet S, Vekemans M, Bonnet D (1998) Prevalence of the microdeletion 22q11 in newborn infants with congenital conotruncal cardiac anomalies. Eur J Pediatr 157:881-884
-
(1998)
Eur J Pediatr
, vol.157
, pp. 881-884
-
-
Iserin, L.1
De Lonlay, P.2
Viot, G.3
Sidi, D.4
Kachaner, J.5
Munnich, A.6
Lyonnet, S.7
Vekemans, M.8
Bonnet, D.9
-
17
-
-
0037234818
-
A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery
-
Maharasingam M, Ostman-Smith I, Pike MG (2003) A cohort study of neurodevelopmental outcome in children with DiGeorge syndrome following cardiac surgery. Arch Dis Child 88:61-64
-
(2003)
Arch Dis Child
, vol.88
, pp. 61-64
-
-
Maharasingam, M.1
Ostman-Smith, I.2
Pike, M.G.3
-
18
-
-
0043160216
-
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
-
Mahle WT, Crisalli J, Coleman K, Campbell RM, Tam VK, Vincent RN, Kanter KR (2003) Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect. Ann Thorac Surg 76:567-571
-
(2003)
Ann Thorac Surg
, vol.76
, pp. 567-571
-
-
Mahle, W.T.1
Crisalli, J.2
Coleman, K.3
Campbell, R.M.4
Tam, V.K.5
Vincent, R.N.6
Kanter, K.R.7
-
19
-
-
0035746361
-
Anatomic pattern of conotruncal defects associated with deletion 22q11
-
Marino B, Digilio MC, Toscano A, Anaclerio S, Giannotti A, Feltri C, de Ioris MA, Angioni A, Dallapiccola B (2001) Anatomic pattern 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
Anaclerio, S.4
Giannotti, A.5
Feltri, C.6
De Ioris, M.A.7
Angioni, A.8
Dallapiccola, B.9
-
20
-
-
0028019184
-
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2 deletion
-
Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K (1994) Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2 deletion. Am J Med Genet 53:285-289
-
(1994)
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
-
21
-
-
32644487801
-
Genetic syndromes and outcome after surgical correction of tetralogy of Fallot
-
Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC, Anaclerio S, Oricchio G, Sanders SP, Di Donato RM (2006) Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg 81:968-975
-
(2006)
Ann Thorac Surg
, vol.81
, pp. 968-975
-
-
Michielon, G.1
Marino, B.2
Formigari, R.3
Gargiulo, G.4
Picchio, F.5
Digilio, M.C.6
Anaclerio, S.7
Oricchio, G.8
Sanders, S.P.9
Di Donato, R.M.10
-
22
-
-
0033050757
-
Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)
-
Momma K, Matsuoka R, Takao A (1999) Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22). Pediatr Cardiol 20:97-102
-
(1999)
Pediatr Cardiol
, vol.20
, pp. 97-102
-
-
Momma, K.1
Matsuoka, R.2
Takao, A.3
-
23
-
-
0035746691
-
Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults
-
Momma K, Takao A, Matsuoka R, Imai Y, Muto A, Osawa M, Takayama M (2001) Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults. Genet Med 3:56-60
-
(2001)
Genet Med
, vol.3
, pp. 56-60
-
-
Momma, K.1
Takao, A.2
Matsuoka, R.3
Imai, Y.4
Muto, A.5
Osawa, M.6
Takayama, M.7
-
24
-
-
17644421861
-
Presenting phenotype in 100 children with the 22q11 deletion syndrome
-
Oskarsdottir S, Persson C, Eriksson BO, Fasth A (2005) Presenting phenotype in 100 children with the 22q11 deletion syndrome. Eur J Pediatr 164:146-153
-
(2005)
Eur J Pediatr
, vol.164
, pp. 146-153
-
-
Oskarsdottir, S.1
Persson, C.2
Eriksson, B.O.3
Fasth, A.4
-
25
-
-
0842327784
-
Incidence and prevalence of the 22q11 deletion syndrome: A population-based study in western Sweden
-
Oskarsdottir S, Vujic M, Fasth A (2004) Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in western Sweden. Arch Dis Child 89:148-151
-
(2004)
Arch Dis Child
, vol.89
, pp. 148-151
-
-
Oskarsdottir, S.1
Vujic, M.2
Fasth, A.3
-
26
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Stewart F, Van Essen T, Patton M, Paterson J, Scambler PJ (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
Philip, N.4
Levy, A.5
Seidel, H.6
Schuffenhauer, S.7
Oechsler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.A.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.A.19
Ignatius, J.20
Green, A.J.21
Winter, R.M.22
Brueton, L.23
Brondum-Nielsen, K.24
Stewart, F.25
Van Essen, T.26
Patton, M.27
Paterson, J.28
Scambler, P.J.29
more..
-
27
-
-
0029845856
-
Repair of interrupted aortic arch: A ten-year experience
-
Serraf A, Lacour-Gayet F, Robottin M, Bruniaux J, Sousa-Uva M, Roussin R, Planche C (1996) Repair of interrupted aortic arch: a ten-year experience. J Thorac Cardiovasc Surg 112:1150-1160
-
(1996)
J Thorac Cardiovasc Surg
, vol.112
, pp. 1150-1160
-
-
Serraf, A.1
Lacour-Gayet, F.2
Robottin, M.3
Bruniaux, J.4
Sousa-Uva, M.5
Roussin, R.6
Planche, C.7
-
28
-
-
0141995460
-
Long-term results after repair of truncus arteriosus communis in neonates and infants
-
Ullmann MV, Gorenflo M, Sebening C, Ulmer HE, Hagl Sm (2003) Long-term results after repair of truncus arteriosus communis in neonates and infants. Thorac Cardiovasc Surg 51:175-179
-
(2003)
Thorac Cardiovasc Surg
, vol.51
, pp. 175-179
-
-
Ullmann, M.V.1
Gorenflo, M.2
Sebening, C.3
Ulmer, H.E.4
Sm, H.5
-
29
-
-
0036766281
-
Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion
-
Yamagishi H, Maeda J, Higuchi M, Katada Y, Yamagishi C, Matsuo N, Kojima Y (2002) Bronchomalacia associated with pulmonary atresia, ventricular septal defect and major aortopulmonary collateral arteries, and chromosome 22q11.2 deletion. Clin Genet 62:214-219
-
(2002)
Clin Genet
, vol.62
, pp. 214-219
-
-
Yamagishi, H.1
Maeda, J.2
Higuchi, M.3
Katada, Y.4
Yamagishi, C.5
Matsuo, N.6
Kojima, Y.7
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