-
1
-
-
0037134945
-
The incidence of congenital heart disease
-
J.I. Hoffman, and S. Kaplan The incidence of congenital heart disease J. Am. Coll. Cardiol. 39 2002 1890 1900
-
(2002)
J. Am. Coll. Cardiol.
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.1
Kaplan, S.2
-
2
-
-
0034648772
-
A genetic blueprint for cardiac development
-
D. Srivastava, and E.N. Olson A genetic blueprint for cardiac development Nature 407 2000 221 226
-
(2000)
Nature
, vol.407
, pp. 221-226
-
-
Srivastava, D.1
Olson, E.N.2
-
3
-
-
37849053289
-
Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
-
M.G. Posch, A. Perrot, K. Schmitt, S. Mittelhaus, E.M. Esenwein, B. Stiller, C. Geier, R. Dietz, R. Gessner, C. Ozcelik, and F. Berger Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects Am. J. Med. Genet. A. 146A 2008 251 253
-
(2008)
Am. J. Med. Genet. A.
, vol.146 A
, pp. 251-253
-
-
Posch, M.G.1
Perrot, A.2
Schmitt, K.3
Mittelhaus, S.4
Esenwein, E.M.5
Stiller, B.6
Geier, C.7
Dietz, R.8
Gessner, R.9
Ozcelik, C.10
Berger, F.11
-
4
-
-
80053124071
-
Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart
-
G. Esposito, T.L. Butler, G.M. Blue, A.D. Cole, G.F. Sholler, E.P. Kirk, P. Grossfeld, B.M. Perryman, R.P. Harvey, and D.S. Winlaw Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart Am. J. Med. Genet. A. 155A 2011 2416 2421
-
(2011)
Am. J. Med. Genet. A.
, vol.155 A
, pp. 2416-2421
-
-
Esposito, G.1
Butler, T.L.2
Blue, G.M.3
Cole, A.D.4
Sholler, G.F.5
Kirk, E.P.6
Grossfeld, P.7
Perryman, B.M.8
Harvey, R.P.9
Winlaw, D.S.10
-
5
-
-
84855429484
-
Absence of association between length variation of an intronic region in the NFATC1 gene and congenital heart defects in a Han Chinese population
-
H. Liu, L. Dai, M. Mao, X. Wang, Y. Hua, and L. Xie Absence of association between length variation of an intronic region in the NFATC1 gene and congenital heart defects in a Han Chinese population DNA Cell Biol. 31 2012 88 91
-
(2012)
DNA Cell Biol.
, vol.31
, pp. 88-91
-
-
Liu, H.1
Dai, L.2
Mao, M.3
Wang, X.4
Hua, Y.5
Xie, L.6
-
6
-
-
79951967049
-
Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005
-
National Birth Defects Prevention Study
-
R.J. Hartman, T. Riehle-Colarusso, A. Lin, J.L. Frías, S.S. Patel, K. Duwe, A. Correa, S.A. Rasmussen National Birth Defects Prevention Study Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997-2005 Am. J. Med. Genet. A. 155A 2011 555 564
-
(2011)
Am. J. Med. Genet. A.
, vol.155 A
, pp. 555-564
-
-
Hartman, R.J.1
Riehle-Colarusso, T.2
Lin, A.3
Frías, J.L.4
Patel, S.S.5
Duwe, K.6
Correa, A.7
Rasmussen, S.A.8
-
7
-
-
56049102822
-
Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005
-
M.D. Reller, M.J. Strickland, T. Riehle-Colarusso, W.T. Mahle, and A. Correa Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005 J. Pediatr. 153 2008 807 813
-
(2008)
J. Pediatr.
, vol.153
, pp. 807-813
-
-
Reller, M.D.1
Strickland, M.J.2
Riehle-Colarusso, T.3
Mahle, W.T.4
Correa, A.5
-
8
-
-
0024476864
-
Congenital cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study
-
C. Ferencz, C.A. Neill, J.A. Boughman, J.D. Rubin, J.I. Brenner, and L.W. Perry Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study J. Pediatr. 114 1989 79 86
-
(1989)
J. Pediatr.
, vol.114
, pp. 79-86
-
-
Ferencz, C.1
Neill, C.A.2
Boughman, J.A.3
Rubin, J.D.4
Brenner, J.I.5
Perry, L.W.6
-
9
-
-
40949096534
-
Ethnicity, sex, and the incidence of congenital heart defects: A report from the National Down Syndrome Project
-
S.B. Freeman, L.H. Bean, E.G. Allen, S.W. Tinker, A.E. Locke, C. Druschel, C.A. Hobbs, P.A. Romitti, M.H. Royle, and C.P. Torfs Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project Genet. Med. 10 2008 173 180
-
(2008)
Genet. Med.
, vol.10
, pp. 173-180
-
-
Freeman, S.B.1
Bean, L.H.2
Allen, E.G.3
Tinker, S.W.4
Locke, A.E.5
Druschel, C.6
Hobbs, C.A.7
Romitti, P.A.8
Royle, M.H.9
Torfs, C.P.10
-
10
-
-
0031022393
-
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis
-
V.C. Sheffield, M.E. Pierpont, D. Nishimura, J.S. Beck, T.L. Burns, M.A. Berg, E.M. Stone, S.R. Patil, and R.M. Lauer Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis Hum. Mol. Genet. 6 1997 117 121
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 117-121
-
-
Sheffield, V.C.1
Pierpont, M.E.2
Nishimura, D.3
Beck, J.S.4
Burns, T.L.5
Berg, M.A.6
Stone, E.M.7
Patil, S.R.8
Lauer, R.M.9
-
11
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
-
V. Garg, I.S. Kathiriya, R. Barnes, M.K. Schluterman, I.N. King, C.A. Butler, C.R. Rothrock, R.S. Eapen, K. Hirayama-Yamada, and K. Joo GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 424 2003 443 447
-
(2003)
Nature
, vol.424
, pp. 443-447
-
-
Garg, V.1
Kathiriya, I.S.2
Barnes, R.3
Schluterman, M.K.4
King, I.N.5
Butler, C.A.6
Rothrock, C.R.7
Eapen, R.S.8
Hirayama-Yamada, K.9
Joo, K.10
-
12
-
-
0344406969
-
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
-
S.W. Robinson, C.D. Morris, E. Goldmuntz, M.D. Reller, M.A. Jones, R.D. Steiner, and C.L. Maslen Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects Am. J. Hum. Genet. 72 2003 1047 1052
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1047-1052
-
-
Robinson, S.W.1
Morris, C.D.2
Goldmuntz, E.3
Reller, M.D.4
Jones, M.A.5
Steiner, R.D.6
Maslen, C.L.7
-
13
-
-
33750594384
-
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome
-
C.L. Maslen, D. Babcock, S.W. Robinson, L.J. Bean, K.J. Dooley, V.L. Willour, and S.L. Sherman CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome Am. J. Med. Genet. A. 140 2006 2501 2505
-
(2006)
Am. J. Med. Genet. A.
, vol.140
, pp. 2501-2505
-
-
Maslen, C.L.1
Babcock, D.2
Robinson, S.W.3
Bean, L.J.4
Dooley, K.J.5
Willour, V.L.6
Sherman, S.L.7
-
14
-
-
78649674330
-
Novel CRELD1 gene mutations in patients with atrioventricular septal defect
-
Y. Guo, J. Shen, L. Yuan, F. Li, J. Wang, and K. Sun Novel CRELD1 gene mutations in patients with atrioventricular septal defect World J. Pediatr. 6 2010 348 352
-
(2010)
World J. Pediatr.
, vol.6
, pp. 348-352
-
-
Guo, Y.1
Shen, J.2
Yuan, L.3
Li, F.4
Wang, J.5
Sun, K.6
-
15
-
-
79960449197
-
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India
-
L. Kusuma, S.M. Dinesh, M.R. Savitha, B. Krishnamurthy, D. Narayanappa, and N.B. Ramachandra A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India Genet Test Mol Biomarkers 15 2011 483 487
-
(2011)
Genet Test Mol Biomarkers
, vol.15
, pp. 483-487
-
-
Kusuma, L.1
Dinesh, S.M.2
Savitha, M.R.3
Krishnamurthy, B.4
Narayanappa, D.5
Ramachandra, N.B.6
-
16
-
-
28444474221
-
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects
-
A. Sarkozy, G. Esposito, E. Conti, M.C. Digilio, B. Marino, R. Calabrò, A. Pizzuti, and B. Dallapiccola CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects Am. J. Med. Genet. A. 139 2005 236 238
-
(2005)
Am. J. Med. Genet. A.
, vol.139
, pp. 236-238
-
-
Sarkozy, A.1
Esposito, G.2
Conti, E.3
Digilio, M.C.4
Marino, B.5
Calabrò, R.6
Pizzuti, A.7
Dallapiccola, B.8
-
17
-
-
18344389564
-
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)
-
M. Zatyka, M. Priestley, E.J. Ladusans, A.E. Fryer, J. Mason, F. Latif, and E.R. Maher Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2) Clin. Genet. 67 2005 526 528
-
(2005)
Clin. Genet.
, vol.67
, pp. 526-528
-
-
Zatyka, M.1
Priestley, M.2
Ladusans, E.J.3
Fryer, A.E.4
Mason, J.5
Latif, F.6
Maher, E.R.7
-
18
-
-
20944442976
-
Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect
-
K. Hirayama-Yamada, M. Kamisago, K. Akimoto, H. Aotsuka, Y. Nakamura, H. Tomita, M. Furutani, S. Imamura, A. Takao, M. Nakazawa, and R. Matsuoka Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect Am. J. Med. Genet. A. 135 2005 47 52
-
(2005)
Am. J. Med. Genet. A.
, vol.135
, pp. 47-52
-
-
Hirayama-Yamada, K.1
Kamisago, M.2
Akimoto, K.3
Aotsuka, H.4
Nakamura, Y.5
Tomita, H.6
Furutani, M.7
Imamura, S.8
Takao, A.9
Nakazawa, M.10
Matsuoka, R.11
-
19
-
-
35048838310
-
Spectrum of heart disease associated with murine and human GATA4 mutation
-
S.K. Rajagopal, Q. Ma, D. Obler, J. Shen, A. Manichaikul, A. Tomita-Mitchell, K. Boardman, C. Briggs, V. Garg, and D. Srivastava Spectrum of heart disease associated with murine and human GATA4 mutation J. Mol. Cell. Cardiol. 43 2007 677 685
-
(2007)
J. Mol. Cell. Cardiol.
, vol.43
, pp. 677-685
-
-
Rajagopal, S.K.1
Ma, Q.2
Obler, D.3
Shen, J.4
Manichaikul, A.5
Tomita-Mitchell, A.6
Boardman, K.7
Briggs, C.8
Garg, V.9
Srivastava, D.10
-
20
-
-
37249090635
-
GATA4 sequence variants in patients with congenital heart disease
-
A. Tomita-Mitchell, C.L. Maslen, C.D. Morris, V. Garg, and E. Goldmuntz GATA4 sequence variants in patients with congenital heart disease J. Med. Genet. 44 2007 779 783
-
(2007)
J. Med. Genet.
, vol.44
, pp. 779-783
-
-
Tomita-Mitchell, A.1
Maslen, C.L.2
Morris, C.D.3
Garg, V.4
Goldmuntz, E.5
-
21
-
-
79952740595
-
ALK2 mutation in a patient with Down's syndrome and a congenital heart defect
-
I.C. Joziasse, K.A. Smith, S. Chocron, M. van Dinther, V. Guryev, J.J. van de Smagt, E. Cuppen, P. Ten Dijke, B.J. Mulder, and C.L. Maslen ALK2 mutation in a patient with Down's syndrome and a congenital heart defect Eur. J. Hum. Genet. 19 2011 389 393
-
(2011)
Eur. J. Hum. Genet.
, vol.19
, pp. 389-393
-
-
Joziasse, I.C.1
Smith, K.A.2
Chocron, S.3
Van Dinther, M.4
Guryev, V.5
Van De Smagt, J.J.6
Cuppen, E.7
Ten Dijke, P.8
Mulder, B.J.9
Maslen, C.L.10
-
22
-
-
67649519781
-
Dominant-negative ALK2 allele associates with congenital heart defects
-
K.A. Smith, I.C. Joziasse, S. Chocron, M. van Dinther, V. Guryev, M.C. Verhoeven, H. Rehmann, J.J. van der Smagt, P.A. Doevendans, and E. Cuppen Dominant-negative ALK2 allele associates with congenital heart defects Circulation 119 2009 3062 3069
-
(2009)
Circulation
, vol.119
, pp. 3062-3069
-
-
Smith, K.A.1
Joziasse, I.C.2
Chocron, S.3
Van Dinther, M.4
Guryev, V.5
Verhoeven, M.C.6
Rehmann, H.7
Van Der Smagt, J.J.8
Doevendans, P.A.9
Cuppen, E.10
-
23
-
-
79951539210
-
Genetics of congenital heart defects: A candidate gene approach
-
A.K. Lagendijk, K.A. Smith, and J. Bakkers Genetics of congenital heart defects: a candidate gene approach Trends Cardiovasc. Med. 20 2010 124 128
-
(2010)
Trends Cardiovasc. Med.
, vol.20
, pp. 124-128
-
-
Lagendijk, A.K.1
Smith, K.A.2
Bakkers, J.3
-
24
-
-
33750590189
-
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: Detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations
-
W. Borozdin, A.M. Bravo Ferrer Acosta, M.J. Bamshad, E.M. Botzenhart, U.G. Froster, J. Lemke, A. Schinzel, S. Spranger, J. McGaughran, and D. Wand Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations Hum. Mutat. 27 2006 975 976
-
(2006)
Hum. Mutat.
, vol.27
, pp. 975-976
-
-
Borozdin, W.1
Bravo Ferrer Acosta, A.M.2
Bamshad, M.J.3
Botzenhart, E.M.4
Froster, U.G.5
Lemke, J.6
Schinzel, A.7
Spranger, S.8
McGaughran, J.9
Wand, D.10
-
25
-
-
4444298928
-
Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease
-
S.M. Reamon-Buettner, and J. Borlak Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease J. Med. Genet. 41 2004 684 690
-
(2004)
J. Med. Genet.
, vol.41
, pp. 684-690
-
-
Reamon-Buettner, S.M.1
Borlak, J.2
-
26
-
-
2442705544
-
Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations
-
S.M. Reamon-Buettner, H. Hecker, K. Spanel-Borowski, S. Craatz, E. Kuenzel, and J. Borlak Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations Am. J. Pathol. 164 2004 2117 2125
-
(2004)
Am. J. Pathol.
, vol.164
, pp. 2117-2125
-
-
Reamon-Buettner, S.M.1
Hecker, H.2
Spanel-Borowski, K.3
Craatz, S.4
Kuenzel, E.5
Borlak, J.6
-
27
-
-
62149117229
-
Investigation of somatic NKX2-5 mutations in congenital heart disease
-
J.M. Draus Jr., M.A. Hauck, M. Goetsch, E.H. Austin 3rd, A. Tomita-Mitchell, and M.E. Mitchell Investigation of somatic NKX2-5 mutations in congenital heart disease J. Med. Genet. 46 2009 115 122
-
(2009)
J. Med. Genet.
, vol.46
, pp. 115-122
-
-
Draus, Jr.J.M.1
Hauck, M.A.2
Goetsch, M.3
Austin III, E.H.4
Tomita-Mitchell, A.5
Mitchell, M.E.6
-
28
-
-
79955470397
-
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects
-
M. Salazar, F. Consoli, V. Villegas, V. Caicedo, V. Maddaloni, P. Daniele, G. Caianiello, S. Pachón, F. Nuñez, and G. Limongelli Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects Eur. J. Med. Genet. 54 2011 306 309
-
(2011)
Eur. J. Med. Genet.
, vol.54
, pp. 306-309
-
-
Salazar, M.1
Consoli, F.2
Villegas, V.3
Caicedo, V.4
Maddaloni, V.5
Daniele, P.6
Caianiello, G.7
Pachón, S.8
Nuñez, F.9
Limongelli, G.10
-
29
-
-
80051968181
-
Needles in stacks of needles: Finding disease-causal variants in a wealth of genomic data
-
G.M. Cooper, and J. Shendure Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data Nat. Rev. Genet. 12 2011 628 640
-
(2011)
Nat. Rev. Genet.
, vol.12
, pp. 628-640
-
-
Cooper, G.M.1
Shendure, J.2
-
30
-
-
58849085106
-
Congenital gastrointestinal defects in Down syndrome: A report from the Atlanta and National Down Syndrome Projects
-
S.B. Freeman, C.P. Torfs, P.A. Romitti, M.H. Royle, C. Druschel, C.A. Hobbs, and S.L. Sherman Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects Clin. Genet. 75 2009 180 184
-
(2009)
Clin. Genet.
, vol.75
, pp. 180-184
-
-
Freeman, S.B.1
Torfs, C.P.2
Romitti, P.A.3
Royle, M.H.4
Druschel, C.5
Hobbs, C.A.6
Sherman, S.L.7
-
31
-
-
77956235500
-
Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome
-
A.E. Locke, K.J. Dooley, S.W. Tinker, S.Y. Cheong, E. Feingold, E.G. Allen, S.B. Freeman, C.P. Torfs, C.L. Cua, and M.P. Epstein Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome Genet. Epidemiol. 34 2010 613 623
-
(2010)
Genet. Epidemiol.
, vol.34
, pp. 613-623
-
-
Locke, A.E.1
Dooley, K.J.2
Tinker, S.W.3
Cheong, S.Y.4
Feingold, E.5
Allen, E.G.6
Freeman, S.B.7
Torfs, C.P.8
Cua, C.L.9
Epstein, M.P.10
-
32
-
-
70350671733
-
Automated inference of molecular mechanisms of disease from amino acid substitutions
-
B. Li, V.G. Krishnan, M.E. Mort, F. Xin, K.K. Kamati, D.N. Cooper, S.D. Mooney, and P. Radivojac Automated inference of molecular mechanisms of disease from amino acid substitutions Bioinformatics 25 2009 2744 2750
-
(2009)
Bioinformatics
, vol.25
, pp. 2744-2750
-
-
Li, B.1
Krishnan, V.G.2
Mort, M.E.3
Xin, F.4
Kamati, K.K.5
Cooper, D.N.6
Mooney, S.D.7
Radivojac, P.8
-
33
-
-
80053040393
-
Prediction of functional regulatory SNPs in monogenic and complex disease
-
Y. Zhao, W.T. Clark, M. Mort, D.N. Cooper, P. Radivojac, and S.D. Mooney Prediction of functional regulatory SNPs in monogenic and complex disease Hum. Mutat. 32 2011 1183 1190
-
(2011)
Hum. Mutat.
, vol.32
, pp. 1183-1190
-
-
Zhao, Y.1
Clark, W.T.2
Mort, M.3
Cooper, D.N.4
Radivojac, P.5
Mooney, S.D.6
-
34
-
-
0025904728
-
The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper
-
J. Engel, and D.J. Prockop The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper Annu. Rev. Biophys. Biophys. Chem. 20 1991 137 152
-
(1991)
Annu. Rev. Biophys. Biophys. Chem.
, vol.20
, pp. 137-152
-
-
Engel, J.1
Prockop, D.J.2
-
35
-
-
0032756903
-
Gata5 is required for the development of the heart and endoderm in zebrafish
-
J.F. Reiter, J. Alexander, A. Rodaway, D. Yelon, R. Patient, N. Holder, and D.Y. Stainier Gata5 is required for the development of the heart and endoderm in zebrafish Genes Dev. 13 1999 2983 2995
-
(1999)
Genes Dev.
, vol.13
, pp. 2983-2995
-
-
Reiter, J.F.1
Alexander, J.2
Rodaway, A.3
Yelon, D.4
Patient, R.5
Holder, N.6
Stainier, D.Y.7
-
36
-
-
77949860733
-
Complex story of the genetic origins of pediatric heart disease
-
D.W. Benson, and L.J. Martin Complex story of the genetic origins of pediatric heart disease Circulation 121 2010 1277 1279
-
(2010)
Circulation
, vol.121
, pp. 1277-1279
-
-
Benson, D.W.1
Martin, L.J.2
-
37
-
-
79952764520
-
Performance of mutation pathogenicity prediction methods on missense variants
-
J. Thusberg, A. Olatubosun, and M. Vihinen Performance of mutation pathogenicity prediction methods on missense variants Hum. Mutat. 32 2011 358 368
-
(2011)
Hum. Mutat.
, vol.32
, pp. 358-368
-
-
Thusberg, J.1
Olatubosun, A.2
Vihinen, M.3
-
38
-
-
17744384959
-
Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?
-
M.J. Baptista, U.L. Fairbrother, C.M. Howard, M.J. Farrer, G.E. Davies, D. Trikka, K. Maratou, A. Redington, G. Greve, P.R. Njolstad, and A.M. Kessling Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome? Hum. Genet. 107 2000 476 482
-
(2000)
Hum. Genet.
, vol.107
, pp. 476-482
-
-
Baptista, M.J.1
Fairbrother, U.L.2
Howard, C.M.3
Farrer, M.J.4
Davies, G.E.5
Trikka, D.6
Maratou, K.7
Redington, A.8
Greve, G.9
Njolstad, P.R.10
Kessling, A.M.11
-
39
-
-
0029156618
-
Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)
-
G.E. Davies, C.M. Howard, M.J. Farrer, M.M. Coleman, L.B. Bennett, L.M. Cullen, R.K. Wyse, J. Burn, R. Williamson, and A.M. Kessling Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome) Ann. Hum. Genet. 59 1995 253 269
-
(1995)
Ann. Hum. Genet.
, vol.59
, pp. 253-269
-
-
Davies, G.E.1
Howard, C.M.2
Farrer, M.J.3
Coleman, M.M.4
Bennett, L.B.5
Cullen, L.M.6
Wyse, R.K.7
Burn, J.8
Williamson, R.9
Kessling, A.M.10
-
40
-
-
0028296187
-
Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects
-
G.E. Davies, C.M. Howard, M.J. Farrer, M.M. Coleman, L.M. Cullen, R. Williamson, R.K. Wyse, and A.M. Kessling Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects Hum. Genet. 93 1994 443 446
-
(1994)
Hum. Genet.
, vol.93
, pp. 443-446
-
-
Davies, G.E.1
Howard, C.M.2
Farrer, M.J.3
Coleman, M.M.4
Cullen, L.M.5
Williamson, R.6
Wyse, R.K.7
Kessling, A.M.8
-
41
-
-
0027469756
-
Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: Novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome
-
G.E. Davies, C.M. Howard, L.M. Gorman, M.J. Farrer, A.J. Holland, R. Williamson, and A.M. Kessling Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome Hum. Genet. 90 1993 521 525
-
(1993)
Hum. Genet.
, vol.90
, pp. 521-525
-
-
Davies, G.E.1
Howard, C.M.2
Gorman, L.M.3
Farrer, M.J.4
Holland, A.J.5
Williamson, R.6
Kessling, A.M.7
-
42
-
-
84864624061
-
Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population
-
H. Li, S. Cherry, D. Klinedinst, V. DeLeon, J. Redig, B. Reshey, M.T. Chin, S.L. Sherman, C.L. Maslen, and R.H. Reeves Genetic modifiers predisposing to congenital heart disease in the sensitized Down syndrome population Circ. Cardiovasc. Genet. 5 2012 301 308
-
(2012)
Circ. Cardiovasc. Genet.
, vol.5
, pp. 301-308
-
-
Li, H.1
Cherry, S.2
Klinedinst, D.3
Deleon, V.4
Redig, J.5
Reshey, B.6
Chin, M.T.7
Sherman, S.L.8
Maslen, C.L.9
Reeves, R.H.10
-
43
-
-
0034985151
-
A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects
-
Y. Dor, T.D. Camenisch, A. Itin, G.I. Fishman, J.A. McDonald, P. Carmeliet, and E. Keshet A novel role for VEGF in endocardial cushion formation and its potential contribution to congenital heart defects Development 128 2001 1531 1538
-
(2001)
Development
, vol.128
, pp. 1531-1538
-
-
Dor, Y.1
Camenisch, T.D.2
Itin, A.3
Fishman, G.I.4
McDonald, J.A.5
Carmeliet, P.6
Keshet, E.7
-
44
-
-
58249091209
-
Cardiac malformations are associated with altered expression of vascular endothelial growth factor and endothelial nitric oxide synthase genes in embryos of diabetic mice
-
S.D. Kumar, S.K. Yong, S.T. Dheen, B.H. Bay, and S.S. Tay Cardiac malformations are associated with altered expression of vascular endothelial growth factor and endothelial nitric oxide synthase genes in embryos of diabetic mice Exp. Biol. Med. (Maywood) 233 2008 1421 1432
-
(2008)
Exp. Biol. Med. (Maywood)
, vol.233
, pp. 1421-1432
-
-
Kumar, S.D.1
Yong, S.K.2
Dheen, S.T.3
Bay, B.H.4
Tay, S.S.5
-
45
-
-
0344395201
-
Collagen type VI expression during cardiac development and in human fetuses with trisomy 21
-
A.C. Gittenberger-de Groot, U. Bartram, P.W. Oosthoek, M.M. Bartelings, B. Hogers, R.E. Poelmann, I.N. Jongewaard, and S.E. Klewer Collagen type VI expression during cardiac development and in human fetuses with trisomy 21 Anat. Rec. A Discov. Mol. Cell. Evol. Biol. 275 2003 1109 1116
-
(2003)
Anat. Rec. A Discov. Mol. Cell. Evol. Biol.
, vol.275
, pp. 1109-1116
-
-
Gittenberger-De Groot, A.C.1
Bartram, U.2
Oosthoek, P.W.3
Bartelings, M.M.4
Hogers, B.5
Poelmann, R.E.6
Jongewaard, I.N.7
Klewer, S.E.8
-
46
-
-
81755187305
-
Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects
-
T.R. Grossman, A. Gamliel, R.J. Wessells, O. Taghli-Lamallem, K. Jepsen, K. Ocorr, J.R. Korenberg, K.L. Peterson, M.G. Rosenfeld, R. Bodmer, and E. Bier Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects PLoS Genet. 7 2011 e1002344
-
(2011)
PLoS Genet.
, vol.7
, pp. 1002344
-
-
Grossman, T.R.1
Gamliel, A.2
Wessells, R.J.3
Taghli-Lamallem, O.4
Jepsen, K.5
Ocorr, K.6
Korenberg, J.R.7
Peterson, K.L.8
Rosenfeld, M.G.9
Bodmer, R.10
Bier, E.11
-
48
-
-
24944559356
-
Collagen VI related muscle disorders
-
A.K. Lampe, and K.M. Bushby Collagen VI related muscle disorders J. Med. Genet. 42 2005 673 685
-
(2005)
J. Med. Genet.
, vol.42
, pp. 673-685
-
-
Lampe, A.K.1
Bushby, K.M.2
-
49
-
-
0036713512
-
Microarray analysis of VEGF-responsive genes in myometrial endothelial cells
-
G.C. Weston, I. Haviv, and P.A. Rogers Microarray analysis of VEGF-responsive genes in myometrial endothelial cells Mol. Hum. Reprod. 8 2002 855 863
-
(2002)
Mol. Hum. Reprod.
, vol.8
, pp. 855-863
-
-
Weston, G.C.1
Haviv, I.2
Rogers, P.A.3
-
50
-
-
84856949774
-
Anti-angiogenic and tumor-suppressive roles of candidate tumor-suppressor gene, Fibulin-2, in nasopharyngeal carcinoma
-
E.W. Law, A.K. Cheung, V.I. Kashuba, T.V. Pavlova, E.R. Zabarovsky, H.L. Lung, Y. Cheng, D. Chua, D. Lai-Wan Kwong, and S.W. Tsao Anti-angiogenic and tumor-suppressive roles of candidate tumor-suppressor gene, Fibulin-2, in nasopharyngeal carcinoma Oncogene 31 2012 728 738
-
(2012)
Oncogene
, vol.31
, pp. 728-738
-
-
Law, E.W.1
Cheung, A.K.2
Kashuba, V.I.3
Pavlova, T.V.4
Zabarovsky, E.R.5
Lung, H.L.6
Cheng, Y.7
Chua, D.8
Lai-Wan Kwong, D.9
Tsao, S.W.10
-
51
-
-
11844273942
-
Frzb modulates Wnt-9a-mediated beta-catenin signaling during avian atrioventricular cardiac cushion development
-
A.D. Person, R.J. Garriock, P.A. Krieg, R.B. Runyan, and S.E. Klewer Frzb modulates Wnt-9a-mediated beta-catenin signaling during avian atrioventricular cardiac cushion development Dev. Biol. 278 2005 35 48
-
(2005)
Dev. Biol.
, vol.278
, pp. 35-48
-
-
Person, A.D.1
Garriock, R.J.2
Krieg, P.A.3
Runyan, R.B.4
Klewer, S.E.5
-
52
-
-
4444320851
-
Heart valve development: Endothelial cell signaling and differentiation
-
E.J. Armstrong, and J. Bischoff Heart valve development: endothelial cell signaling and differentiation Circ. Res. 95 2004 459 470
-
(2004)
Circ. Res.
, vol.95
, pp. 459-470
-
-
Armstrong, E.J.1
Bischoff, J.2
-
53
-
-
4444267113
-
Sculpting heart valves with NFATc and VEGF
-
D. Lambrechts, and P. Carmeliet Sculpting heart valves with NFATc and VEGF Cell 118 2004 532 534
-
(2004)
Cell
, vol.118
, pp. 532-534
-
-
Lambrechts, D.1
Carmeliet, P.2
-
54
-
-
8444234265
-
A null mutation of Hhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels
-
H. Hallaq, E. Pinter, J. Enciso, J. McGrath, C. Zeiss, M. Brueckner, J. Madri, H.C. Jacobs, C.M. Wilson, and H. Vasavada A null mutation of Hhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels Development 131 2004 5197 5209
-
(2004)
Development
, vol.131
, pp. 5197-5209
-
-
Hallaq, H.1
Pinter, E.2
Enciso, J.3
McGrath, J.4
Zeiss, C.5
Brueckner, M.6
Madri, J.7
Jacobs, H.C.8
Wilson, C.M.9
Vasavada, H.10
-
55
-
-
41949107645
-
Mutation of the HEXIM1 gene results in defects during heart and vascular development partly through downregulation of vascular endothelial growth factor
-
M.M. Montano, Y.Q. Doughman, H. Deng, L. Chaplin, J. Yang, N. Wang, Q. Zhou, N.L. Ward, and M. Watanabe Mutation of the HEXIM1 gene results in defects during heart and vascular development partly through downregulation of vascular endothelial growth factor Circ. Res. 102 2008 415 422
-
(2008)
Circ. Res.
, vol.102
, pp. 415-422
-
-
Montano, M.M.1
Doughman, Y.Q.2
Deng, H.3
Chaplin, L.4
Yang, J.5
Wang, N.6
Zhou, Q.7
Ward, N.L.8
Watanabe, M.9
-
56
-
-
77958094945
-
Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse
-
L. Dunlevy, M. Bennett, A. Slender, E. Lana-Elola, V.L. Tybulewicz, E.M. Fisher, and T. Mohun Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse Cardiovasc. Res. 88 2010 287 295
-
(2010)
Cardiovasc. Res.
, vol.88
, pp. 287-295
-
-
Dunlevy, L.1
Bennett, M.2
Slender, A.3
Lana-Elola, E.4
Tybulewicz, V.L.5
Fisher, E.M.6
Mohun, T.7
-
57
-
-
77958081775
-
Looking down the atrioventricular canal
-
D.W. Benson, and K.L. Sund Looking down the atrioventricular canal Cardiovasc. Res. 88 2010 205 206
-
(2010)
Cardiovasc. Res.
, vol.88
, pp. 205-206
-
-
Benson, D.W.1
Sund, K.L.2
-
58
-
-
33750200915
-
Echo-morphological correlates in patients with atrioventricular septal defect and common atrioventricular junction
-
W.T. Mahle, G.S. Shirali, and R.H. Anderson Echo-morphological correlates in patients with atrioventricular septal defect and common atrioventricular junction Cardiol. Young 16 Suppl 3 2006 43 51
-
(2006)
Cardiol. Young
, vol.16
, Issue.SUPPL. 3
, pp. 43-51
-
-
Mahle, W.T.1
Shirali, G.S.2
Anderson, R.H.3
-
59
-
-
33947213940
-
Atrioventricular septal defect recently diagnosed by fetal echocardiography: Echocardiographic features, associated anomalies, and outcomes
-
M.K. Friedberg, N. Kim, and N.H. Silverman Atrioventricular septal defect recently diagnosed by fetal echocardiography: echocardiographic features, associated anomalies, and outcomes Congenit. Heart Dis. 2 2007 110 114
-
(2007)
Congenit. Heart Dis.
, vol.2
, pp. 110-114
-
-
Friedberg, M.K.1
Kim, N.2
Silverman, N.H.3
-
60
-
-
63149124857
-
Atrioventricular septal defect in the fetus - Associated conditions and outcome in 246 cases
-
C. Berg, C. Kaiser, F. Bender, A. Geipel, T. Kohl, R. Axt-Fliedner, M. Krapp, G. Knöpfle, U. Herberg, and J. Breuer Atrioventricular septal defect in the fetus - associated conditions and outcome in 246 cases Ultraschall Med. 30 2009 25 32
-
(2009)
Ultraschall Med.
, vol.30
, pp. 25-32
-
-
Berg, C.1
Kaiser, C.2
Bender, F.3
Geipel, A.4
Kohl, T.5
Axt-Fliedner, R.6
Krapp, M.7
Knöpfle, G.8
Herberg, U.9
Breuer, J.10
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