-
1
-
-
79951950285
-
Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations?A review
-
20965293 10.1016/j.ejmg.2010.09.016
-
Agergaard P, Hebert A, Sørensen KM, Østergaard JR, Olesen C (2011) Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations?A review. Eur J Med Genet 54:3-8
-
(2011)
Eur J Med Genet
, vol.54
, pp. 3-8
-
-
Agergaard, P.1
Hebert, A.2
Sørensen, K.M.3
Østergaard, J.R.4
Olesen, C.5
-
2
-
-
84857122521
-
The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations: A population-based study
-
22190294
-
Agergaard P, Olesen C, Ostergaard JR, Christiansen M, Sørensen KM (2011) The prevalence of chromosome 22q11.2 deletions in 2,478 children with cardiovascular malformations: a population-based study. Am J Med Genet A 158A(3):498-508
-
(2011)
Am J Med Genet A
, vol.158
, Issue.3
, pp. 498-508
-
-
Agergaard, P.1
Olesen, C.2
Ostergaard, J.R.3
Christiansen, M.4
Sørensen, K.M.5
-
3
-
-
73549121749
-
ACOG Committee Opinion No. 446: Array comparative genomic hybridization in prenatal diagnosis
-
American Congress of Obstetricians and Gynecologists (ACOG) 10.1097/AOG.0b013e3181c33cad
-
American Congress of Obstetricians and Gynecologists (ACOG) (2009) ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol 114:1161-1163
-
(2009)
Obstet Gynecol
, vol.114
, pp. 1161-1163
-
-
-
4
-
-
80051904757
-
Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children
-
21418101 10.1111/j.1651-2227.2011.02271.x 1:STN:280: DC%2BC3MflvVemtw%3D%3D
-
Anilkumar A, Kappanayil M, Thampi MV, Nampoothiri S, Sundaram KR, Vasudevan DM (2011) Variation in prevalence of chromosome 22q11 deletion in subtypes of conotruncal defect in 254 children. Acta Paediatr 100:e97-e100
-
(2011)
Acta Paediatr
, vol.100
-
-
Anilkumar, A.1
Kappanayil, M.2
Thampi, M.V.3
Nampoothiri, S.4
Sundaram, K.R.5
Vasudevan, D.M.6
-
5
-
-
0038419517
-
A population-based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population
-
12837874 10.1542/peds.112.1.101
-
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
-
6
-
-
34248334109
-
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain
-
17295247 10.1002/humu.20480 1:CAS:528:DC%2BD2sXmsVymtbs%3D
-
Chhin B, Hatayama M, Bozon D, Ogawa M, Schön P, Tohmonda T, Sassolas F, Aruga J, Valard AG, Chen SC, Bouvagnet P (2007) Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain. Hum Mutat 28:563-570
-
(2007)
Hum Mutat
, vol.28
, pp. 563-570
-
-
Chhin, B.1
Hatayama, M.2
Bozon, D.3
Ogawa, M.4
Schön, P.5
Tohmonda, T.6
Sassolas, F.7
Aruga, J.8
Valard, A.G.9
Chen, S.C.10
Bouvagnet, P.11
-
7
-
-
79955391338
-
Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus
-
21362743 10.1176/appi.ajp.2010.10081230
-
Chow EWC, Ho A, Wei C, Voormolen EHJ, Crawley AP, Bassett AS (2011) Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus. Am J Psychiatr 168:522-529
-
(2011)
Am J Psychiatr
, vol.168
, pp. 522-529
-
-
Chow, E.W.C.1
Ho, A.2
Wei, C.3
Voormolen, E.H.J.4
Crawley, A.P.5
Bassett, A.S.6
-
8
-
-
77951655078
-
Familial transposition of the great arteries caused by multiple mutations in laterality genes
-
19933292 10.1136/hrt.2009.181685
-
De Luca A, Sarkozy A, Consoli F, Ferese R (2010) Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 96:673
-
(2010)
Heart
, vol.96
, pp. 673
-
-
De Luca, A.1
Sarkozy, A.2
Consoli, F.3
Ferese, R.4
-
9
-
-
24044515278
-
Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
-
16134031 10.1007/s10803-005-5036-9
-
Fine SE, Weissman A, Gerdes M, Pinto-Martin J, Zackai EH, McDonald-McGinn DM, Emanuel BS (2005) Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 35:461-470
-
(2005)
J Autism Dev Disord
, vol.35
, pp. 461-470
-
-
Fine, S.E.1
Weissman, A.2
Gerdes, M.3
Pinto-Martin, J.4
Zackai, E.H.5
McDonald-Mcginn, D.M.6
Emanuel, B.S.7
-
10
-
-
59449095097
-
High-resolution array genomic hybridization in prenatal diagnosis. Wiley online library
-
10.1002/pd.2129
-
Friedman J (2008) High-resolution array genomic hybridization in prenatal diagnosis. Wiley online library. Prenat Diagn 29:20-28
-
(2008)
Prenat Diagn
, vol.29
, pp. 20-28
-
-
Friedman, J.1
-
11
-
-
77952995512
-
Applications of array comparative genomic hybridization in obstetrics
-
20494259 10.1016/j.ogc.2010.02.001
-
Fruhman G, Van den Veyver IB (2010) Applications of array comparative genomic hybridization in obstetrics. Obstet Gynecol Clin North Am 37:71-85
-
(2010)
Obstet Gynecol Clin North Am
, vol.37
, pp. 71-85
-
-
Fruhman, G.1
Van Den Veyver, I.B.2
-
12
-
-
17444434198
-
Frequency of 22q11 deletions in patients with conotruncal defects
-
9708481 10.1016/S0735-1097(98)00259-9 1:STN:280:DyaK1cznt1WrtA%3D%3D
-
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA (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
Jawad, A.F.4
Cuneo, B.F.5
Reed, L.6
McDonald-Mcginn, D.7
Chien, P.8
Feuer, J.9
Zackai, E.H.10
Emanuel, B.S.11
Driscoll, D.A.12
-
13
-
-
0036179821
-
CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle
-
11799476 10.1086/339079 1:CAS:528:DC%2BD38XislChtrc%3D
-
Goldmuntz E, Bamford R, Karkera JD, Cruz dela J, Roessler E, Muenke M (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 70:776-780
-
(2002)
Am J Hum Genet
, vol.70
, pp. 776-780
-
-
Goldmuntz, E.1
Bamford, R.2
Karkera, J.D.3
Cruz Dela, J.4
Roessler, E.5
Muenke, M.6
-
14
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
11242110 10.1038/85845 1:CAS:528:DC%2BD3MXhslOjur8%3D
-
Jerome LA, Papaioannou VE (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27:286-291
-
(2001)
Nat Genet
, vol.27
, pp. 286-291
-
-
Jerome, L.A.1
Papaioannou, V.E.2
-
15
-
-
38349147288
-
The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: Clinical course and cardiac outcome
-
17906889 10.1007/s00246-007-9074-2 1:STN:280:DC%2BD1c7otFCltA%3D%3D
-
Kyburz A, Bauersfeld U, Schinzel A, Riegel M, Hug M, Tomaske M, Valsangiacomo Büchel ER (2008) The fate of children with microdeletion 22q11.2 syndrome and congenital heart defect: clinical course and cardiac outcome. Pediatr Cardiol 29:76-83
-
(2008)
Pediatr Cardiol
, vol.29
, pp. 76-83
-
-
Kyburz, A.1
Bauersfeld, U.2
Schinzel, A.3
Riegel, M.4
Hug, M.5
Tomaske, M.6
Valsangiacomo Büchel, E.R.7
-
16
-
-
83555168187
-
From karyotyping to array-CGH in prenatal diagnosis
-
22086062 10.1159/000334065 1:STN:280:DC%2BC38%2FmsFeiug%3D%3D
-
Lichtenbelt KD, Knoers NVAM, Schuring-Blom GH (2011) From karyotyping to array-CGH in prenatal diagnosis. Cytogenet Genome Res 135:241-250
-
(2011)
Cytogenet Genome Res
, vol.135
, pp. 241-250
-
-
Lichtenbelt, K.D.1
Knoers, N.2
Schuring-Blom, G.H.3
-
17
-
-
0033598389
-
Congenital heart disease in mice deficient for the DiGeorge syndrome region
-
10517636 1:CAS:528:DyaK1MXmsFegu78%3D
-
Lindsay EA, Botta A, Jurecic V, Carattini-Rivera S, Cheah YC, Rosenblatt HM, Bradley A, Baldini A (1999) Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature 401:379-383
-
(1999)
Nature
, vol.401
, pp. 379-383
-
-
Lindsay, E.A.1
Botta, A.2
Jurecic, V.3
Carattini-Rivera, S.4
Cheah, Y.C.5
Rosenblatt, H.M.6
Bradley, A.7
Baldini, A.8
-
18
-
-
0043160216
-
Deletion of chromosome 22q11.2 and outcome in patients with pulmonary atresia and ventricular septal defect
-
12902105 10.1016/S0003-4975(03)00516-2
-
Mahle WT, Crisalli J, Coleman K, Campbell RM, Tam VKH, 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.H.5
Vincent, R.N.6
Kanter, K.R.7
-
19
-
-
78649675161
-
Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting
-
20925131 10.1002/pd.2626
-
Maya I, Davidov B, Gershovitz L, Zalzstein Y, Taub E, Coppinger J, Shaffer LG, Shohat M (2010) Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting. Prenat Diagn 30:1131-1137
-
(2010)
Prenat Diagn
, vol.30
, pp. 1131-1137
-
-
Maya, I.1
Davidov, B.2
Gershovitz, L.3
Zalzstein, Y.4
Taub, E.5
Coppinger, J.6
Shaffer, L.G.7
Shohat, M.8
-
20
-
-
44149100980
-
Genetic counseling for the 22q11.2 deletion
-
18636638 10.1002/ddrr.10
-
McDonald-McGinn DM, Zackai EH (2008) Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev 14:69-74
-
(2008)
Dev Disabil Res Rev
, vol.14
, pp. 69-74
-
-
McDonald-Mcginn, D.M.1
Zackai, E.H.2
-
21
-
-
0035876360
-
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching
-
11419896 10.1016/S0735-1097(01)01286-4 1:CAS:528:DC%2BD3MXltFamu7o%3D
-
McElhinney DB, Bernard J, Clark I, Weinberg PM, Kenton ML, McDonald-McGinn D, Driscoll DA, Zackai EH, Goldmuntz E (2001) Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching. J Am Coll Cardiol 37:2114-2119
-
(2001)
J Am Coll Cardiol
, vol.37
, pp. 2114-2119
-
-
McElhinney, D.B.1
Bernard, J.2
Clark, I.3
Weinberg, P.M.4
Kenton, M.L.5
McDonald-Mcginn, D.6
Driscoll, D.A.7
Zackai, E.H.8
Goldmuntz, E.9
-
22
-
-
0035651517
-
Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age
-
10.1542/peds.108.6.e104
-
McElhinney DB, McDonald-McGinn D, Zackai EH, Goldmuntz E (2001) Cardiovascular anomalies in patients diagnosed with a chromosome 22q11 deletion beyond 6 months of age. Pediatrics 108:104
-
(2001)
Pediatrics
, vol.108
, pp. 104
-
-
McElhinney, D.B.1
McDonald-Mcginn, D.2
Zackai, E.H.3
Goldmuntz, E.4
-
23
-
-
0345304959
-
Chromosome 22q11 deletion in patients with truncus arteriosus
-
12947506 10.1007/s00246-003-0441-3 1:STN:280:DC%2BD2c%2FmtVahsQ%3D%3D
-
McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E (2003) Chromosome 22q11 deletion in patients with truncus arteriosus. Pediatr Cardiol 24:569-573
-
(2003)
Pediatr Cardiol
, vol.24
, pp. 569-573
-
-
McElhinney, D.B.1
Driscoll, D.A.2
Emanuel, B.S.3
Goldmuntz, E.4
-
24
-
-
0642333838
-
Chromosome 22q11 deletion in patients with ventricular septal defect: Frequency and associated cardiovascular anomalies
-
10.1542/peds.112.6.e472
-
McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E (2003) Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics 112:472-476
-
(2003)
Pediatrics
, vol.112
, pp. 472-476
-
-
McElhinney, D.B.1
Driscoll, D.A.2
Levin, E.R.3
Jawad, A.F.4
Emanuel, B.S.5
Goldmuntz, E.6
-
25
-
-
17744395906
-
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/ DiGeorge syndrome
-
11239417 10.1016/S0092-8674(01)00247-1 1:CAS:528:DC%2BD3MXis1Kks7Y%3D
-
Merscher S, Funke B, Epstein JA, Heyer J, Puech A, Lu MM, Xavier RJ, Demay MB, Russell RG, Factor S, Tokooya K, Jore BS, Lopez M, Pandita RK, Lia M, Carrion D, Xu H, Schorle H, Kobler JB, Scambler P, Wynshaw-Boris A, Skoultchi AI, Morrow BE, Kucherlapati R (2001) TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell 104:619-629
-
(2001)
Cell
, vol.104
, pp. 619-629
-
-
Merscher, S.1
Funke, B.2
Epstein, J.A.3
Heyer, J.4
Puech, A.5
Lu, M.M.6
Xavier, R.J.7
Demay, M.B.8
Russell, R.G.9
Factor, S.10
Tokooya, K.11
Jore, B.S.12
Lopez, M.13
Pandita, R.K.14
Lia, M.15
Carrion, D.16
Xu, H.17
Schorle, H.18
Kobler, J.B.19
Scambler, P.20
Wynshaw-Boris, A.21
Skoultchi, A.I.22
Morrow, B.E.23
Kucherlapati, R.24
more..
-
26
-
-
33751201822
-
Cardiovascular anomalies associated with chromosome 22q11.2 deletion
-
16730817 10.1016/j.ijcard.2006.02.002
-
Momma K (2007) Cardiovascular anomalies associated with chromosome 22q11.2 deletion. Int J Cardiol 114:147-149
-
(2007)
Int J Cardiol
, vol.114
, pp. 147-149
-
-
Momma, K.1
-
27
-
-
77952328830
-
Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome
-
20494672 10.1016/j.amjcard.2010.01.333 1:CAS:528:DC%2BC3cXmsVSnsLY%3D
-
Momma K (2010) Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome. Am J Cardiol 105:1617-1624
-
(2010)
Am J Cardiol
, vol.105
, pp. 1617-1624
-
-
Momma, K.1
-
28
-
-
0030058764
-
Tetralogy of fallot with pulmonary atresia associated with chromosome 22q11 deletion
-
1:STN:280:DyaK287itFWjug%3D%3D
-
Momma K, Kondo C, Matsuoka R (1996) Tetralogy of fallot with pulmonary atresia associated with chromosome 22q11 deletion. JAC 27:198-202
-
(1996)
JAC
, vol.27
, pp. 198-202
-
-
Momma, K.1
Kondo, C.2
Matsuoka, R.3
-
29
-
-
0033050757
-
Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)
-
9986884 10.1007/s002469900414 1:STN:280:DyaK1M7ktleisA%3D%3D
-
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
-
30
-
-
0033063788
-
Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern
-
9931529 10.1016/S0022-3476(99)70415-4 1:STN:280:DyaK1M7jt1emuw%3D%3D
-
Moss E, Batshaw M, Solot C, Gerdes M, Mcdonald-Mcginn D, Driscoll D, Emanuel B, Zackai E, Wang P (1999) Psychoeducational profile of the 22q11.2 microdeletion: a complex pattern. J Pediatr 134:193-198
-
(1999)
J Pediatr
, vol.134
, pp. 193-198
-
-
Moss, E.1
Batshaw, M.2
Solot, C.3
Gerdes, M.4
McDonald-Mcginn, D.5
Driscoll, D.6
Emanuel, B.7
Zackai, E.8
Wang, P.9
-
31
-
-
50049105485
-
Double-outlet right ventricle: Aetiologies and associations
-
18456715 10.1136/jmg.2008.057984 1:STN:280:DC%2BD1cvptFOmtA%3D%3D
-
Obler D, Juraszek AL, Smoot LB, Natowicz MR (2008) Double-outlet right ventricle: aetiologies and associations. J Med Genet 45:481-497
-
(2008)
J Med Genet
, vol.45
, pp. 481-497
-
-
Obler, D.1
Juraszek, A.L.2
Smoot, L.B.3
Natowicz, M.R.4
-
32
-
-
33751231407
-
Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: A Korean multicenter study
-
16824627 10.1016/j.ijcard.2005.12.029
-
Park IS, Ko JK, Kim YH, Yoo HW, Seo EJ, Choi JY, Gil HY, Kim SJ (2007) Cardiovascular anomalies in patients with chromosome 22q11.2 deletion: a Korean multicenter study. Int J Cardiol 114:230-235
-
(2007)
Int J Cardiol
, vol.114
, pp. 230-235
-
-
Park, I.S.1
Ko, J.K.2
Kim, Y.H.3
Yoo, H.W.4
Seo, E.J.5
Choi, J.Y.6
Gil, H.Y.7
Kim, S.J.8
-
33
-
-
79958190497
-
Cognitive, behavioural, and psychiatric phenotype in 22q11.2 deletion syndrome
-
21573985 10.1007/s10519-011-9468-z
-
Philip N, Bassett A (2011) Cognitive, behavioural, and psychiatric phenotype in 22q11.2 deletion syndrome. Behav Genet 41:403-412
-
(2011)
Behav Genet
, vol.41
, pp. 403-412
-
-
Philip, N.1
Bassett, A.2
-
34
-
-
8744275150
-
Laterality of the aortic arch and anomalies of the subclavian artery: Reliable indicators for 22q11.2 deletion syndromes?
-
15300432
-
Rauch R, Rauch A, Koch A, Zink S, Kaulitz R, Girisch M, Singer H, Hofbeck M (2004) Laterality of the aortic arch and anomalies of the subclavian artery: reliable indicators for 22q11.2 deletion syndromes? Eur J Pediatr 163:642-645
-
(2004)
Eur J Pediatr
, vol.163
, pp. 642-645
-
-
Rauch, R.1
Rauch, A.2
Koch, A.3
Zink, S.4
Kaulitz, R.5
Girisch, M.6
Singer, H.7
Hofbeck, M.8
-
35
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
9350810 10.1136/jmg.34.10.798 1:STN:280:DyaK1c%2FhtVaqsQ%3D%3D
-
Ryan A, Goodship J, Wilson D (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34:798
-
(1997)
J Med Genet
, vol.34
, pp. 798
-
-
Ryan, A.1
Goodship, J.2
Wilson, D.3
-
36
-
-
79953161375
-
Evolving applications of microarray analysis in prenatal diagnosis
-
21297472 10.1097/GCO.0b013e32834457c7
-
Savage MS, Mourad MJ, Wapner RJ (2011) Evolving applications of microarray analysis in prenatal diagnosis. Curr Opin Obstet Gynecol 23:103-108
-
(2011)
Curr Opin Obstet Gynecol
, vol.23
, pp. 103-108
-
-
Savage, M.S.1
Mourad, M.J.2
Wapner, R.J.3
-
37
-
-
66649134382
-
Do neonates with genetic abnormalities have an increased morbidity and mortality following cardiac surgery?
-
19489943 10.1111/j.1747-0803.2009.00281.x
-
Simsic JM, Coleman K, Maher KO, Cuadrado A, Kirshbom PM (2009) Do neonates with genetic abnormalities have an increased morbidity and mortality following cardiac surgery? Congenit Heart Dis 4:160-165
-
(2009)
Congenit Heart Dis
, vol.4
, pp. 160-165
-
-
Simsic, J.M.1
Coleman, K.2
Maher, K.O.3
Cuadrado, A.4
Kirshbom, P.M.5
-
38
-
-
0141745950
-
22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: Impact of additional ultrasound signs
-
12975788 10.1002/pd.682
-
Volpe P, Marasini M, Caruso G, Marzullo A, Buonadonna AL, Arciprete P, Paolo SD, Volpe G, Gentile M (2003) 22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: impact of additional ultrasound signs. Prenat Diagn 23:752-757
-
(2003)
Prenat Diagn
, vol.23
, pp. 752-757
-
-
Volpe, P.1
Marasini, M.2
Caruso, G.3
Marzullo, A.4
Buonadonna, A.L.5
Arciprete, P.6
Paolo, S.D.7
Volpe, G.8
Gentile, M.9
-
39
-
-
33746945477
-
MLPA: A rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
-
16791841 10.1002/humu.20330 1:CAS:528:DC%2BD28XptVamsbw%3D
-
Vorstman JAS, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS (2006) MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum Mutat 27:814-821
-
(2006)
Hum Mutat
, vol.27
, pp. 814-821
-
-
Vorstman, J.A.S.1
Jalali, G.R.2
Rappaport, E.F.3
Hacker, A.M.4
Scott, C.5
Emanuel, B.S.6
-
40
-
-
50249123938
-
Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: Frequency, associated cardiovascular anomalies, and outcome following cardiac surgery
-
18172682 10.1007/s00431-007-0645-2 1:CAS:528:DC%2BD1cXhtVSku7bI
-
Ziolkowska L, Kawalec W, Turska-Kmiec A, Krajewska-Walasek M, Brzezinska-Rajszys G, Daszkowska J, Maruszewski B, Burczynski P (2008) Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery. Eur J Pediatr 167:1135-1140
-
(2008)
Eur J Pediatr
, vol.167
, pp. 1135-1140
-
-
Ziolkowska, L.1
Kawalec, W.2
Turska-Kmiec, A.3
Krajewska-Walasek, M.4
Brzezinska-Rajszys, G.5
Daszkowska, J.6
Maruszewski, B.7
Burczynski, P.8
|