-
1
-
-
84859494373
-
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
-
Armengol L., Nevado J., Serra-Juhé C., Plaja A., Mediano C., García-Santiago F.A., García-Aragonés M., Villa O., Mansilla E., Preciado C., Fernández L., Mori M.A., García-Pérez L., Lapunzina P.D., Pérez-Jurado L.A. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. Hum. Genet. 2011, 10.1007/s00439-011-1095-5.
-
(2011)
Hum. Genet.
-
-
Armengol, L.1
Nevado, J.2
Serra-Juhé, C.3
Plaja, A.4
Mediano, C.5
García-Santiago, F.A.6
García-Aragonés, M.7
Villa, O.8
Mansilla, E.9
Preciado, C.10
Fernández, L.11
Mori, M.A.12
García-Pérez, L.13
Lapunzina, P.D.14
Pérez-Jurado, L.A.15
-
2
-
-
78449290092
-
Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography
-
Bellucco F.T., Belangero S.I., Farah L.M., Machado M.V., Cruz A.P., Lopes L.M., Lopes M.A., Zugaib M., Cernach M.C., Melaragno M.I. Investigating 22q11.2 deletion and other chromosomal aberrations in fetuses with heart defects detected by prenatal echocardiography. Pediatr. Cardiol. 2010, 31(8):1146-1150.
-
(2010)
Pediatr. Cardiol.
, vol.31
, Issue.8
, pp. 1146-1150
-
-
Bellucco, F.T.1
Belangero, S.I.2
Farah, L.M.3
Machado, M.V.4
Cruz, A.P.5
Lopes, L.M.6
Lopes, M.A.7
Zugaib, M.8
Cernach, M.C.9
Melaragno, M.I.10
-
3
-
-
77950629979
-
Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects
-
Breckpot J., Thienpont B., Peeters H., de Ravel T., Singer A., Rayyan M., Allegaert K., Vanhole C., Eyskens B., Vermeesch J.R., Gewillig M., Devriendt K. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J. Pediatr. 2010, 156(5):810-817.
-
(2010)
J. Pediatr.
, vol.156
, Issue.5
, pp. 810-817
-
-
Breckpot, J.1
Thienpont, B.2
Peeters, H.3
de Ravel, T.4
Singer, A.5
Rayyan, M.6
Allegaert, K.7
Vanhole, C.8
Eyskens, B.9
Vermeesch, J.R.10
Gewillig, M.11
Devriendt, K.12
-
4
-
-
78349311628
-
Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome
-
Bretelle F., Beyer L., Pellissier M.C., Missirian C., Sigaudy S., Gamerre M., D'Ercole C., Philip N. Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Eur. J. Med. Genet. 2010, 53(6):367-370.
-
(2010)
Eur. J. Med. Genet.
, vol.53
, Issue.6
, pp. 367-370
-
-
Bretelle, F.1
Beyer, L.2
Pellissier, M.C.3
Missirian, C.4
Sigaudy, S.5
Gamerre, M.6
D'Ercole, C.7
Philip, N.8
-
5
-
-
84855976205
-
Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype
-
D'Amours G., Kibar Z., Mathonnet G., Fetni R., Tihy F., Désilets V., Nizard S., Michaud J., Lemyre E. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin. Genet. 2012, 81(2):128-141.
-
(2012)
Clin. Genet.
, vol.81
, Issue.2
, pp. 128-141
-
-
D'Amours, G.1
Kibar, Z.2
Mathonnet, G.3
Fetni, R.4
Tihy, F.5
Désilets, V.6
Nizard, S.7
Michaud, J.8
Lemyre, E.9
-
6
-
-
0032790898
-
A common molecular basis for rearrangement disorders on chromosome 22q11
-
Edelmann L., Pandita R.K., Spiteri E., Funke B., Goldberg R., Palanisamy N., Chaganti R.S., Magenis E., Shprintzen R.J., Morrow B.E. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum. Mol. Genet. 1999, 8(7):1157-1167.
-
(1999)
Hum. Mol. Genet.
, vol.8
, Issue.7
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
Funke, B.4
Goldberg, R.5
Palanisamy, N.6
Chaganti, R.S.7
Magenis, E.8
Shprintzen, R.J.9
Morrow, B.E.10
-
7
-
-
56049097929
-
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
-
Erdogan F., Larsen L.A., Zhang L., Tümer Z., Tommerup N., Chen W., Jacobsen J.R., Schubert M., Jurkatis J., Tzschach A., Ropers H.H., Ullmann R. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J. Med. Genet. 2008, 45:704-709.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 704-709
-
-
Erdogan, F.1
Larsen, L.A.2
Zhang, L.3
Tümer, Z.4
Tommerup, N.5
Chen, W.6
Jacobsen, J.R.7
Schubert, M.8
Jurkatis, J.9
Tzschach, A.10
Ropers, H.H.11
Ullmann, R.12
-
8
-
-
25144479378
-
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome
-
Fernández L., Lapunzina P., Arjona D., López Pajares I., García-Guereta L., Elorza D., Burgueros M., De Torres M.L., Mori M.A., Palomares M., García-Alix A., Delicado A. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome. Clin. Genet. 2005, 68(4):373-378.
-
(2005)
Clin. Genet.
, vol.68
, Issue.4
, pp. 373-378
-
-
Fernández, L.1
Lapunzina, P.2
Arjona, D.3
López Pajares, I.4
García-Guereta, L.5
Elorza, D.6
Burgueros, M.7
De Torres, M.L.8
Mori, M.A.9
Palomares, M.10
García-Alix, A.11
Delicado, A.12
-
9
-
-
68149181705
-
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
-
Greenway S.C., Pereira A.C., Lin J.C., DePalma S.R., Israel S.J., Mesquita S.M., Ergul E., Conta J.H., Korn J.M., McCarroll S.A., Gorham J.M., Gabriel S., Altshuler D.M., Quintanilla-Dieck L., Artunduaga M.A., Eavey R.D., Plenge R.M., Shadick N.A., Weinblatt M.E., De Jager P.L., Hafler D.A., Breitbart R.E., Seidman J.G., Seidman C.E. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat. Genet. 2009, 41:931-935.
-
(2009)
Nat. Genet.
, vol.41
, pp. 931-935
-
-
Greenway, S.C.1
Pereira, A.C.2
Lin, J.C.3
DePalma, S.R.4
Israel, S.J.5
Mesquita, S.M.6
Ergul, E.7
Conta, J.H.8
Korn, J.M.9
McCarroll, S.A.10
Gorham, J.M.11
Gabriel, S.12
Altshuler, D.M.13
Quintanilla-Dieck, L.14
Artunduaga, M.A.15
Eavey, R.D.16
Plenge, R.M.17
Shadick, N.A.18
Weinblatt, M.E.19
De Jager, P.L.20
Hafler, D.A.21
Breitbart, R.E.22
Seidman, J.G.23
Seidman, C.E.24
more..
-
10
-
-
78650632807
-
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis
-
Hillman S.C., Pretlove S., Coomarasamy A., McMullan D.J., Davison E.V., Maher E.R., Kilby M.D. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet. Gynecol. 2011, 37(1):6-14.
-
(2011)
Ultrasound Obstet. Gynecol.
, vol.37
, Issue.1
, pp. 6-14
-
-
Hillman, S.C.1
Pretlove, S.2
Coomarasamy, A.3
McMullan, D.J.4
Davison, E.V.5
Maher, E.R.6
Kilby, M.D.7
-
11
-
-
40549140095
-
Detailed analysis of 22q11.2 with a high density MLPA probe set
-
Jalali G.R., Vorstman J.A., Errami A., Vijzelaar R., Biegel J., Shaikh T., Emanuel B.S. Detailed analysis of 22q11.2 with a high density MLPA probe set. Hum. Mutat. 2008, 29(3):433-440.
-
(2008)
Hum. Mutat.
, vol.29
, Issue.3
, pp. 433-440
-
-
Jalali, G.R.1
Vorstman, J.A.2
Errami, A.3
Vijzelaar, R.4
Biegel, J.5
Shaikh, T.6
Emanuel, B.S.7
-
12
-
-
78649671321
-
Subtelomeric MLPA: is it really useful in prenatal diagnosis?
-
Mademont-Soler I., Morales C., Bruguera J., Madrigal I., Clusellas N., Margarit E., Sánchez A., Soler A. Subtelomeric MLPA: is it really useful in prenatal diagnosis?. Prenat. Diagn. 2010, 30(12-13):1165-1169.
-
(2010)
Prenat. Diagn.
, vol.30
, Issue.12-13
, pp. 1165-1169
-
-
Mademont-Soler, I.1
Morales, C.2
Bruguera, J.3
Madrigal, I.4
Clusellas, N.5
Margarit, E.6
Sánchez, A.7
Soler, A.8
-
13
-
-
11144220492
-
Fetal cardiac anomalies and genetic syndromes
-
Pajkrt E., Weisz B., Firth H.V., Chitty L.S. Fetal cardiac anomalies and genetic syndromes. Prenat. Diagn. 2004, 24(13):1104-1115.
-
(2004)
Prenat. Diagn.
, vol.24
, Issue.13
, pp. 1104-1115
-
-
Pajkrt, E.1
Weisz, B.2
Firth, H.V.3
Chitty, L.S.4
-
14
-
-
34250305402
-
Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics
-
American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
-
Pierpont M.E., Basson C.T., Benson D.W., Gelb B.D., Giglia T.M., Goldmuntz E., McGee G., Sable C.A., Srivastava D., Webb C.L. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation 2007, 115(23):3015-3038. American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young.
-
(2007)
Circulation
, vol.115
, Issue.23
, pp. 3015-3038
-
-
Pierpont, M.E.1
Basson, C.T.2
Benson, D.W.3
Gelb, B.D.4
Giglia, T.M.5
Goldmuntz, E.6
McGee, G.7
Sable, C.A.8
Srivastava, D.9
Webb, C.L.10
-
15
-
-
37249090241
-
Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification
-
Stachon A.C., Baskin B., Smith A.C., Shugar A., Cytrynbaum C., Fishman L., Mendoza-Londono R., Klatt R., Teebi A., Ray P.N., Weksberg R. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. Am. J. Med. Genet. A 2007, 143A(24):2924-2930.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, Issue.24
, pp. 2924-2930
-
-
Stachon, A.C.1
Baskin, B.2
Smith, A.C.3
Shugar, A.4
Cytrynbaum, C.5
Fishman, L.6
Mendoza-Londono, R.7
Klatt, R.8
Teebi, A.9
Ray, P.N.10
Weksberg, R.11
-
16
-
-
0037636487
-
Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe
-
Euroscan study group
-
Stoll C., Clementi M. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe. Ultrasound Obstet. Gynecol. 2003, 21(6):543-551. Euroscan study group.
-
(2003)
Ultrasound Obstet. Gynecol.
, vol.21
, Issue.6
, pp. 543-551
-
-
Stoll, C.1
Clementi, M.2
-
17
-
-
34249000299
-
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients
-
Thienpont B., Mertens L., de Ravel T., Eyskens B., Boshoff D., Maas N., Fryns J.P., Gewillig M., Vermeesch J.R., Devriendt K. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur. Heart J. 2007, 28(22):2778-2784.
-
(2007)
Eur. Heart J.
, vol.28
, Issue.22
, pp. 2778-2784
-
-
Thienpont, B.1
Mertens, L.2
de Ravel, T.3
Eyskens, B.4
Boshoff, D.5
Maas, N.6
Fryns, J.P.7
Gewillig, M.8
Vermeesch, J.R.9
Devriendt, K.10
-
18
-
-
57649228924
-
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
-
Van Opstal D., Boter M., de Jong D., van den Berg C., Brüggenwirth H.T., Wildschut H.I., de Klein A., Galjaard R.J. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur. J. Hum. Genet. 2009, 17(1):112-121.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, Issue.1
, pp. 112-121
-
-
Van Opstal, D.1
Boter, M.2
de Jong, D.3
van den Berg, C.4
Brüggenwirth, H.T.5
Wildschut, H.I.6
de Klein, A.7
Galjaard, R.J.8
-
19
-
-
33746945477
-
MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q
-
Vorstman J.A., Jalali G.R., Rappaport E.F., Hacker A.M., Scott C., Emanuel B.S. MLPA: a rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q. Hum. Mutat. 2006, 27(8):814-821.
-
(2006)
Hum. Mutat.
, vol.27
, Issue.8
, pp. 814-821
-
-
Vorstman, J.A.1
Jalali, G.R.2
Rappaport, E.F.3
Hacker, A.M.4
Scott, C.5
Emanuel, B.S.6
-
20
-
-
11144222592
-
Congenital heart disease and aneuploidy
-
Wimalasundera R.C., Gardiner H.M. Congenital heart disease and aneuploidy. Prenat. Diagn. 2004, 24(13):1116-1122.
-
(2004)
Prenat. Diagn.
, vol.24
, Issue.13
, pp. 1116-1122
-
-
Wimalasundera, R.C.1
Gardiner, H.M.2
-
21
-
-
75649102512
-
Comparative study of three PCR-based copy number variant approaches, CFMSA, M-PCR, and MLPA, in 22q11.2 deletion syndrome
-
Yang C., Zhu X., Yi L., Shi Z., Wang H., Hu Y., Wang Y. Comparative study of three PCR-based copy number variant approaches, CFMSA, M-PCR, and MLPA, in 22q11.2 deletion syndrome. Genet. Test. Mol. Biomark. 2009, 13(6):803-808.
-
(2009)
Genet. Test. Mol. Biomark.
, vol.13
, Issue.6
, pp. 803-808
-
-
Yang, C.1
Zhu, X.2
Yi, L.3
Shi, Z.4
Wang, H.5
Hu, Y.6
Wang, Y.7
|