-
1
-
-
68649091541
-
Hypoplastic left heart syndrome
-
Barron DJ, Kilby MD, Davies B, Wright JG, Jones TJ, Brawn WJ (2009) Hypoplastic left heart syndrome. Lancet 374:551-564
-
(2009)
Lancet
, vol.374
, pp. 551-564
-
-
Barron, D.J.1
Kilby, M.D.2
Davies, B.3
Wright, J.G.4
Jones, T.J.5
Brawn, W.J.6
-
2
-
-
77953700010
-
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation, and absent or severely delayed speech
-
Bonnet C, Andrieux J, Beri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D (2010) Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation, and absent or severely delayed speech. J Med Genet 47:377-384
-
(2010)
J Med Genet
, vol.47
, pp. 377-384
-
-
Bonnet, C.1
Andrieux, J.2
Beri-Dexheimer, M.3
Leheup, B.4
Boute, O.5
Manouvrier, S.6
Delobel, B.7
Copin, H.8
Receveur, A.9
Mathieu, M.10
Thiriez, G.11
Le Caignec, C.12
David, A.13
De Blois, M.C.14
Malan, V.15
Philippe, A.16
Cormier-Daire, V.17
Colleaux, L.18
Flori, E.19
Dollfus, H.20
Pelletier, V.21
Thauvin-Robinet, C.22
Masurel-Paulet, A.23
Faivre, L.24
Tardieu, M.25
Bahi-Buisson, N.26
Callier, P.27
Mugneret, F.28
Edery, P.29
Jonveaux, P.30
Sanlaville, D.31
more..
-
3
-
-
79959938953
-
Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients
-
Buizer-Voskamp JE, Muntjewerff JW, Strengman E, Sabatti C, Stefansson H, Vorstman JA, Ophoff RA (2011) Genome-wide analysis shows increased frequency of copy number variation deletions in Dutch schizophrenia patients. Biol Psychiatry 70:655-662
-
(2011)
Biol Psychiatry
, vol.70
, pp. 655-662
-
-
Buizer-Voskamp, J.E.1
Muntjewerff, J.W.2
Strengman, E.3
Sabatti, C.4
Stefansson, H.5
Vorstman, J.A.6
Ophoff, R.A.7
-
5
-
-
58149153113
-
Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies
-
Edelmann L, Hirschhorn K (2009) Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 1151:157-166
-
(2009)
Ann N Y Acad Sci
, vol.1151
, pp. 157-166
-
-
Edelmann, L.1
Hirschhorn, K.2
-
6
-
-
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 LA, Zhang L, Tumer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R (2008) High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet 45:704-709
-
(2008)
J Med Genet
, vol.45
, pp. 704-709
-
-
Erdogan, F.1
Larsen, L.A.2
Zhang, L.3
Tumer, 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
-
7
-
-
24644467759
-
Mutations in NOTCH1 cause aortic valve disease
-
Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D (2005) Mutations in NOTCH1 cause aortic valve disease. Nature 437:270-274
-
(2005)
Nature
, vol.437
, pp. 270-274
-
-
Garg, V.1
Muth, A.N.2
Ransom, J.F.3
Schluterman, M.K.4
Barnes, R.5
King, I.N.6
Grossfeld, P.D.7
Srivastava, D.8
-
8
-
-
77649122250
-
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
-
Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L, Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL, Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ, Asamoah A, Weaver DD, Mark PR, Dickerson J, Garg BP, Ellingwood SA, Smith R, Banks VC, Smith W, McDonald MT, Hoo JJ, French BN, Hudson C, Johnson JP, Ozmore JR, Moeschler JB, Surti U, Escobar LF, El-Khechen D, Gorski JL, Kussmann J, Salbert B, Lacassie Y, Biser A, McDonald-McGinn DM, Zackai EH, Deardorff MA, Shaikh TH, Haan E, Friend KL, Fichera M, Romano C, Gecz J, DeLisi LE, Sebat J, King MC, Shaffer LG, Eichler EE (2010) A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet 42:203-209
-
Nat Genet
, vol.42
, Issue.2010
, pp. 203-209
-
-
Girirajan, S.1
Rosenfeld, J.A.2
Cooper, G.M.3
Antonacci, F.4
Siswara, P.5
Itsara, A.6
Vives, L.7
Walsh, T.8
McCarthy, S.E.9
Baker, C.10
Mefford, H.C.11
Kidd, J.M.12
Browning, S.R.13
Browning, B.L.14
Dickel, D.E.15
Levy, D.L.16
Ballif, B.C.17
Platky, K.18
Farber, D.M.19
Gowans, G.C.20
Wetherbee, J.J.21
Asamoah, A.22
Weaver, D.D.23
Mark, P.R.24
Dickerson, J.25
Garg, B.P.26
Ellingwood, S.A.27
Smith, R.28
Banks, V.C.29
Smith, W.30
McDonald, M.T.31
Hoo, J.J.32
French, B.N.33
Hudson, C.34
Johnson, J.P.35
Ozmore, J.R.36
Moeschler, J.B.37
Surti, U.38
Escobar, L.F.39
El-Khechen, D.40
Gorski, J.L.41
Kussmann, J.42
Salbert, B.43
Lacassie, Y.44
Biser, A.45
McDonald-McGinn, D.M.46
Zackai, E.H.47
Deardorff, M.A.48
Shaikh, T.H.49
Haan, E.50
Friend, K.L.51
Fichera, M.52
Romano, C.53
Gecz, J.54
DeLisi, L.E.55
Sebat, J.56
King, M.C.57
Shaffer, L.G.58
Eichler, E.E.59
more..
-
9
-
-
68149181705
-
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot
-
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE (2009) De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 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 Mde, 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
-
-
0033220507
-
The genetics of hypoplastic left heart syndrome
-
Grossfeld PD (1999) The genetics of hypoplastic left heart syndrome. Cardiol Young 9:627-632
-
(1999)
Cardiol Young
, vol.9
, pp. 627-632
-
-
Grossfeld, P.D.1
-
11
-
-
34948833712
-
Hypoplastic left heart syndrome is heritable
-
Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW (2007) Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol 50:1590-1595
-
(2007)
J Am Coll Cardiol
, vol.50
, pp. 1590-1595
-
-
Hinton Jr., R.B.1
Martin, L.J.2
Tabangin, M.E.3
Mazwi, M.L.4
Cripe, L.H.5
Benson, D.W.6
-
12
-
-
61949160625
-
Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve
-
Hinton RB, Martin LJ, Rame-Gowda S, Tabangin ME, Cripe LH, Benson DW (2009) Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol 53:1065-1071
-
(2009)
J Am Coll Cardiol
, vol.53
, pp. 1065-1071
-
-
Hinton, R.B.1
Martin, L.J.2
Rame-Gowda, S.3
Tabangin, M.E.4
Cripe, L.H.5
Benson, D.W.6
-
13
-
-
0037134945
-
The incidence of congenital heart disease
-
Hoffman JI, Kaplan S (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39:1890-1900
-
(2002)
J Am Coll Cardiol
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.1
Kaplan, S.2
-
14
-
-
84863105332
-
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
-
[epub ahead of print]
-
Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso A, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto A, Comas J, Ferrazzi P, Zuffardi O (2011) Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet [epub ahead of print]
-
(2011)
Clin Genet
-
-
Iascone, M.1
Ciccone, R.2
Galletti, L.3
Marchetti, D.4
Seddio, F.5
Lincesso, A.6
Pezzoli, L.7
Vetro, A.8
Barachetti, D.9
Boni, L.10
Federici, D.11
Soto, A.12
Comas, J.13
Ferrazzi, P.14
Zuffardi, O.15
-
15
-
-
31544463054
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
-
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78:303-314
-
(2006)
Am J Hum Genet
, vol.78
, pp. 303-314
-
-
Lalani, S.R.1
Safiullah, A.M.2
Fernbach, S.D.3
Harutyunyan, K.G.4
Thaller, C.5
Peterson, L.E.6
McPherson, J.D.7
Gibbs, R.A.8
White, L.D.9
Hefner, M.10
Davenport, S.L.11
Graham, J.M.12
Bacino, C.A.13
Glass, N.L.14
Towbin, J.A.15
Craigen, W.J.16
Neish, S.R.17
Lin, A.E.18
Belmont, J.W.19
-
16
-
-
16644372195
-
Genetics in zebrafish, mice, and humans to dissect congenital heart disease: Insights in the role of VEGF
-
Lambrechts D, Carmeliet P (2004) Genetics in zebrafish, mice, and humans to dissect congenital heart disease: insights in the role of VEGF. Curr Top Dev Biol 62:189-224
-
(2004)
Curr Top Dev Biol
, vol.62
, pp. 189-224
-
-
Lambrechts, D.1
Carmeliet, P.2
-
17
-
-
79958032110
-
Rare de novo and transmitted copy number variation in autistic spectrum disorders
-
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M (2011) Rare de novo and transmitted copy number variation in autistic spectrum disorders. Neuron 70:886-897
-
(2011)
Neuron
, vol.70
, pp. 886-897
-
-
Levy, D.1
Ronemus, M.2
Yamrom, B.3
Lee, Y.H.4
Leotta, A.5
Kendall, J.6
Marks, S.7
Lakshmi, B.8
Pai, D.9
Ye, K.10
Buja, A.11
Krieger, A.12
Yoon, S.13
Troge, J.14
Rodgers, L.15
Iossifov, I.16
Wigler, M.17
-
18
-
-
14044270324
-
Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions
-
Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold LI, Kaplan N, Towbin JA, Belmont JW (2004) Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics 114:691-696
-
(2004)
Pediatrics
, vol.114
, pp. 691-696
-
-
Lewin, M.B.1
McBride, K.L.2
Pignatelli, R.3
Fernbach, S.4
Combes, A.5
Menesses, A.6
Lam, W.7
Bezold, L.I.8
Kaplan, N.9
Towbin, J.A.10
Belmont, J.W.11
-
19
-
-
79960248723
-
Heredity of bicuspid aortic valve: Is family screening indicated?
-
McBride KL, Garg V (2011) Heredity of bicuspid aortic valve: is family screening indicated? Heart 97:1193-1195
-
(2011)
Heart
, vol.97
, pp. 1193-1195
-
-
McBride, K.L.1
Garg, V.2
-
20
-
-
20144388158
-
Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability
-
McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW (2005) Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet A 134A:180-186
-
(2005)
Am J Med Genet A 134A
, pp. 180-186
-
-
McBride, K.L.1
Pignatelli, R.2
Lewin, M.3
Ho, T.4
Fernbach, S.5
Menesses, A.6
Lam, W.7
Leal, S.M.8
Kaplan, N.9
Schliekelman, P.10
Towbin, J.A.11
Belmont, J.W.12
-
21
-
-
50849104527
-
NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling
-
McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE (2008) NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 17:2886-2893
-
(2008)
Hum Mol Genet
, vol.17
, pp. 2886-2893
-
-
McBride, K.L.1
Riley, M.F.2
Zender, G.A.3
Fitzgerald-Butt, S.M.4
Towbin, J.A.5
Belmont, J.W.6
Cole, S.E.7
-
22
-
-
77952032690
-
Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
-
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749-764
-
(2010)
Am J Hum Genet
, vol.86
, pp. 749-764
-
-
Miller, D.T.1
Adam, M.P.2
Aradhya, S.3
Biesecker, L.G.4
Brothman, A.R.5
Carter, N.P.6
Church, D.M.7
Crolla, J.A.8
Eichler, E.E.9
Epstein, C.J.10
Faucett, W.A.11
Feuk, L.12
Friedman, J.M.13
Hamosh, A.14
Jackson, L.15
Kaminsky, E.B.16
Kok, K.17
Krantz, I.D.18
Kuhn, R.M.19
Lee, C.20
Ostell, J.M.21
Rosenberg, C.22
Scherer, S.W.23
Spinner, N.B.24
Stavropoulos, D.J.25
Tepperberg, J.H.26
Thorland, E.C.27
Vermeesch, J.R.28
Waggoner, D.J.29
Watson, M.S.30
Martin, C.L.31
Ledbetter, D.H.32
more..
-
23
-
-
0023745088
-
Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome
-
Natowicz M, Chatten J, Clancy R, Conard K, Glauser T, Huff D, Lin A, Norwood W, Rorke LB, Uri A et al (1988) Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics 82:698-706
-
(1988)
Pediatrics
, vol.82
, pp. 698-706
-
-
Natowicz, M.1
Chatten, J.2
Clancy, R.3
Conard, K.4
Glauser, T.5
Huff, D.6
Lin, A.7
Norwood, W.8
Rorke, L.B.9
Uri, A.10
-
24
-
-
39149129958
-
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
-
Osoegawa K, Vessere GM, Utami KH, Mansilla MA, Johnson MK, Riley BM, L'Heureux J, Pfundt R, Staaf J, van der Vliet WA, Lidral AC, Schoenmakers EF, Borg A, Schutte BC, Lammer EJ, Murray JC, de Jong PJ (2008) Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation. J Med Genet 45:81-86
-
(2008)
J Med Genet
, vol.45
, pp. 81-86
-
-
Osoegawa, K.1
Vessere, G.M.2
Utami, K.H.3
Mansilla, M.A.4
Johnson, M.K.5
Riley, B.M.6
L'Heureux, J.7
Pfundt, R.8
Staaf, J.9
Van Der Vliet, W.A.10
Lidral, A.C.11
Schoenmakers, E.F.12
Borg, A.13
Schutte, B.C.14
Lammer, E.J.15
Murray, J.C.16
De Jong, P.J.17
-
25
-
-
68249099670
-
Recurrence of congenital heart defects in families
-
Oyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M (2009) Recurrence of congenital heart defects in families. Circulation 120:295-301
-
(2009)
Circulation
, vol.120
, pp. 295-301
-
-
Oyen, N.1
Poulsen, G.2
Boyd, H.A.3
Wohlfahrt, J.4
Jensen, P.K.5
Melbye, M.6
-
26
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME (2006) Global variation in copy number in the human genome. Nature 444:444-454
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Armengol, L.33
Conrad, D.F.34
Estivill, X.35
Tyler-Smith, C.36
Carter, N.P.37
Aburatani, H.38
Lee, C.39
Jones, K.W.40
Scherer, S.W.41
Hurles, M.E.42
more..
-
27
-
-
77951580573
-
Genetics of congenital heart disease
-
Richards AA, Garg V (2010) Genetics of congenital heart disease. Curr Cardiol Rev 6:91-99
-
(2010)
Curr Cardiol Rev
, vol.6
, pp. 91-99
-
-
Richards, A.A.1
Garg, V.2
-
28
-
-
55049097760
-
Cryptic chromosomal abnormalities identified in children with congenital heart disease
-
Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS, Zinn AR, Garg V (2008) Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatr Res 64:358-363
-
(2008)
Pediatr Res
, vol.64
, pp. 358-363
-
-
Richards, A.A.1
Santos, L.J.2
Nichols, H.A.3
Crider, B.P.4
Elder, F.F.5
Hauser, N.S.6
Zinn, A.R.7
Garg, V.8
-
29
-
-
34249680839
-
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
-
Stankiewicz P, Beaudet AL (2007) Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation. Curr Opin Genet Dev 17:182-192
-
(2007)
Curr Opin Genet Dev
, vol.17
, pp. 182-192
-
-
Stankiewicz, P.1
Beaudet, A.L.2
-
30
-
-
77957906102
-
VEGF signaling has distinct spatiotemporal roles during heart valve development
-
Stankunas K, Ma GK, Kuhnert FJ, Kuo CJ, Chang CP (2010) VEGF signaling has distinct spatiotemporal roles during heart valve development. Dev Biol 347:325-336
-
(2010)
Dev Biol
, vol.347
, pp. 325-336
-
-
Stankunas, K.1
Ma, G.K.2
Kuhnert, F.J.3
Kuo, C.J.4
Chang, C.P.5
-
31
-
-
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 JP, Gewillig M, Vermeesch JR, Devriendt K (2007) Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28:2778-2784
-
(2007)
Eur Heart J
, vol.28
, 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
-
32
-
-
34147104969
-
A faster circular binary segmentation algorithm for the analysis of array CGH data
-
Venkatraman ES, Olshen AB (2007) A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 23:657-663
-
(2007)
Bioinformatics
, vol.23
, pp. 657-663
-
-
Venkatraman, E.S.1
Olshen, A.B.2
-
33
-
-
80054827874
-
The causality of de novo copy number variants is overestimated
-
Vermeesch JR, Balikova I, Schrander-Stumpel C, Fryns J, Devriendt K (2011) The causality of de novo copy number variants is overestimated. Eur J Hum Genet 19:1112-1113
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1112-1113
-
-
Vermeesch, J.R.1
Balikova, I.2
Schrander-Stumpel, C.3
Fryns, J.4
Devriendt, K.5
-
34
-
-
4444239112
-
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
-
Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36: 955-957
-
(2004)
Nat Genet
, vol.36
, pp. 955-957
-
-
Vissers, L.E.1
Van Ravenswaaij, C.M.2
Admiraal, R.3
Hurst, J.A.4
De Vries, B.B.5
Janssen, I.M.6
Van Der Vliet, W.A.7
Huys, E.H.8
De Jong, P.J.9
Hamel, B.C.10
Schoenmakers, E.F.11
Brunner, H.G.12
Veltman, J.A.13
Van Kessel, A.G.14
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