-
1
-
-
0024450369
-
Congenital cardiovascular malformations: Questions on inheritance. Baltimore- Washington Infant Study Group
-
Ferencz C, Boughman JA, Neill CA, Brenner JI, Perry LW. Congenital cardiovascular malformations: questions on inheritance. Baltimore- Washington Infant Study Group. J Am Coll Cardiol. 1989;14:756-763.
-
(1989)
J Am Coll Cardiol
, vol.14
, pp. 756-763
-
-
Ferencz, C.1
Boughman, J.A.2
Neill, C.A.3
Brenner, J.I.4
Perry, L.W.5
-
2
-
-
33750594384
-
CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in down syndrome
-
Maslen CL, Babcock D, Robinson SW, Bean LJ, Dooley KJ, Willour VL, Sherman SL. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in down syndrome. Am J Med Genet A. 2006;140:2501-2505.
-
(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
-
3
-
-
67749148222
-
The genetic architecture of Down syndrome phenotypes revealed by highresolution analysis of human segmental trisomies
-
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik- Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR. The genetic architecture of Down syndrome phenotypes revealed by highresolution analysis of human segmental trisomies. Proc Natl Acad Sci U S A. 2009;106:12031-12036.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 12031-12036
-
-
Korbel, J.O.1
Tirosh-Wagner, T.2
Urban, A.E.3
Chen, X.N.4
Kasowski, M.5
Dai, L.6
Grubert, F.7
Erdman, C.8
Gao, M.C.9
Lange, K.10
Sobel, E.M.11
Barlow, G.M.12
Aylsworth, A.S.13
Carpenter, N.J.14
Clark, R.D.15
Cohen, M.Y.16
Doran, E.17
Falik- Zaccai, T.18
Lewin, S.O.19
Lott, I.T.20
McGillivray, B.C.21
Moeschler, J.B.22
Pettenati, M.J.23
Pueschel, S.M.24
Rao, K.W.25
Shaffer, L.G.26
Shohat, M.27
Van Riper, A.J.28
Warburton, D.29
Weissman, S.30
Gerstein, M.B.31
Snyder, M.32
Korenberg, J.R.33
more..
-
4
-
-
0026583894
-
Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis
-
Korenberg JR, Bradley C, Disteche CM. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet. 1992;50:294-302.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 294-302
-
-
Korenberg, J.R.1
Bradley, C.2
Disteche, C.M.3
-
5
-
-
0027874350
-
Molecular mapping of twenty-four features of Down syndrome on chromosome 21
-
Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieut M, Noel B, Sinet PM. Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet. 1993;1:114-124.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 114-124
-
-
Delabar, J.M.1
Theophile, D.2
Rahmani, Z.3
Chettouh, Z.4
Blouin, J.L.5
Prieut, M.6
Noel, B.7
Sinet, P.M.8
-
6
-
-
0037178268
-
Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins
-
Rupp PA, Fouad GT, Egelston CA, Reifsteck CA, Olson SB, Knosp WM, Glanville RW, Thornburg KL, Robinson SW, Maslen CL. Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins. Gene. 2002;293:47-57.
-
(2002)
Gene
, vol.293
, pp. 47-57
-
-
Rupp, P.A.1
Fouad, G.T.2
Egelston, C.A.3
Reifsteck, C.A.4
Olson, S.B.5
Knosp, W.M.6
Glanville, R.W.7
Thornburg, K.L.8
Robinson, S.W.9
Maslen, C.L.10
-
7
-
-
0344406969
-
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects
-
Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet. 2003;72: 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
-
8
-
-
2442697452
-
Molecular genetics of atrioventricular septal defects
-
Maslen CL. Molecular genetics of atrioventricular septal defects. Curr Opin Cardiol. 2004;19:205-210.
-
(2004)
Curr Opin Cardiol
, vol.19
, pp. 205-210
-
-
Maslen, C.L.1
-
10
-
-
78951484120
-
Hairy-related transcription factor 2 is not potentially related to congenital heart disease in Chinese patients
-
Wang B, Zhou S, Chen Q, Xie X, Huang G, Wang J, Zhoua S, Ma X. Hairy-related transcription factor 2 is not potentially related to congenital heart disease in Chinese patients. Int J Cardiol. 2011;146:415-416.
-
(2011)
Int J Cardiol
, vol.146
, pp. 415-416
-
-
Wang, B.1
Zhou, S.2
Chen, Q.3
Xie, X.4
Huang, G.5
Wang, J.6
Zhoua, S.7
Ma, X.8
-
11
-
-
0037125957
-
Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice
-
Donovan J, Kordylewska A, Jan YN, Utset MF. Tetralogy of fallot and other congenital heart defects in Hey2 mutant mice. Curr Biol. 2002;12: 1605-1610.
-
(2002)
Curr Biol
, vol.12
, pp. 1605-1610
-
-
Donovan, J.1
Kordylewska, A.2
Jan, Y.N.3
Utset, M.F.4
-
12
-
-
0037125916
-
Mouse gridlock: No aortic coarctation or deficiency, but fatal cardiac defects in Hey2-/- mice
-
Gessler M, Knobeloch KP, Helisch A, Amann K, Schumacher N, Rohde E, Fischer A, Leimeister C. Mouse gridlock: No aortic coarctation or deficiency, but fatal cardiac defects in Hey2-/- mice. Curr Biol. 2002;12:1601-1604.
-
(2002)
Curr Biol
, vol.12
, pp. 1601-1604
-
-
Gessler, M.1
Knobeloch, K.P.2
Helisch, A.3
Amann, K.4
Schumacher, N.5
Rohde, E.6
Fischer, A.7
Leimeister, C.8
-
13
-
-
34548431071
-
The power of comparative and developmental studies for mouse models of down syndrome
-
Moore CS, Roper RJ. The power of comparative and developmental studies for mouse models of down syndrome. Mamm Genome. 2007;18: 431-443.
-
(2007)
Mamm Genome
, vol.18
, pp. 431-443
-
-
Moore, C.S.1
Roper, R.J.2
-
14
-
-
0029114706
-
A mouse model for Down syndrome exhibits learning and behaviour deficits
-
Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, Sisodia SS, Schmidt C, Bronson RT, Davisson MT. A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet. 1995;11:177-184.
-
(1995)
Nat Genet
, vol.11
, pp. 177-184
-
-
Reeves, R.H.1
Irving, N.G.2
Moran, T.H.3
Wohn, A.4
Kitt, C.5
Sisodia, S.S.6
Schmidt, C.7
Bronson, R.T.8
Davisson, M.T.9
-
15
-
-
39749134383
-
Characterization of the cardiac phenotype in neonatal ts65dn mice
-
Williams AD, Mjaatvedt CH, Moore CS. Characterization of the cardiac phenotype in neonatal ts65dn mice. Dev Dyn. 2008;237:426-435.
-
(2008)
Dev Dyn
, vol.237
, pp. 426-435
-
-
Williams, A.D.1
Mjaatvedt, C.H.2
Moore, C.S.3
-
16
-
-
0037058935
-
Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2
-
Sakata Y, Kamei CN, Nakagami H, Bronson R, Liao JK, Chin MT. Ventricular septal defect and cardiomyopathy in mice lacking the transcription factor CHF1/Hey2. Proc Natl Acad Sci U S A. 2002;99: 16197-16202.
-
(2002)
Proc Natl Acad Sci U S A
, vol.99
, pp. 16197-16202
-
-
Sakata, Y.1
Kamei, C.N.2
Nakagami, H.3
Bronson, R.4
Liao, J.K.5
Chin, M.T.6
-
17
-
-
77449110704
-
PCR prescreen for genotyping the ts65dn mouse model of down syndrome
-
Lorenzi H, Duvall N, Cherry SM, Reeves RH, Roper RJ. PCR prescreen for genotyping the ts65dn mouse model of down syndrome. Biotechniques. 2010;48:35-37.
-
(2010)
Biotechniques
, vol.48
, pp. 35-37
-
-
Lorenzi, H.1
Duvall, N.2
Cherry, S.M.3
Reeves, R.H.4
Roper, R.J.5
-
18
-
-
0033166749
-
Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16
-
Moore CS, Lee JS, Birren B, Stetten G, Baxter LL, Reeves RH. Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16. Genomics. 1999;59:1-5.
-
(1999)
Genomics
, vol.59
, pp. 1-5
-
-
Moore, C.S.1
Lee, J.S.2
Birren, B.3
Stetten, G.4
Baxter, L.L.5
Reeves, R.H.6
-
19
-
-
4344673276
-
Phenotypic variability in Hey2-/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome
-
Fischer A, Klamt B, Schumacher N, Glaeser C, Hansmann I, Fenge H, Gessler M. Phenotypic variability in Hey2-/- mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome. Mamm Genome. 2004;15:711-716.
-
(2004)
Mamm Genome
, vol.15
, pp. 711-716
-
-
Fischer, A.1
Klamt, B.2
Schumacher, N.3
Glaeser, C.4
Hansmann, I.5
Fenge, H.6
Gessler, M.7
-
20
-
-
31444450744
-
The spectrum of cardiovascular anomalies in CHF1/Hey2 deficient mice reveals roles in endocardial cushion, myocardial and vascular maturation
-
Sakata Y, Koibuchi N, Xiang F, Youngblood JM, Kamei CN, Chin MT. The spectrum of cardiovascular anomalies in CHF1/Hey2 deficient mice reveals roles in endocardial cushion, myocardial and vascular maturation. J Mol Cell Cardiol. 2006;40:267-273.
-
(2006)
J Mol Cell Cardiol
, vol.40
, pp. 267-273
-
-
Sakata, Y.1
Koibuchi, N.2
Xiang, F.3
Youngblood, J.M.4
Kamei, C.N.5
Chin, M.T.6
-
21
-
-
0043062774
-
Hey genes in cardiovascular development
-
Fischer A, Gessler M. Hey genes in cardiovascular development. Trends Cardiovasc Med. 2003;13:221-226.
-
(2003)
Trends Cardiovasc Med
, vol.13
, pp. 221-226
-
-
Fischer, A.1
Gessler, M.2
-
22
-
-
0033166951
-
Hey genes: A novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis
-
Leimeister C, Externbrink A, Klamt B, Gessler M. Hey genes: a novel subfamily of hairy- and enhancer of split related genes specifically expressed during mouse embryogenesis. Mech Dev. 1999;85:173-177.
-
(1999)
Mech Dev
, vol.85
, pp. 173-177
-
-
Leimeister, C.1
Externbrink, A.2
Klamt, B.3
Gessler, M.4
-
23
-
-
17944378083
-
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
-
Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, Seidman JG. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell. 2001;106:709-721.
-
(2001)
Cell
, vol.106
, pp. 709-721
-
-
Bruneau, B.G.1
Nemer, G.2
Schmitt, J.P.3
Charron, F.4
Robitaille, L.5
Caron, S.6
Conner, D.A.7
Gessler, M.8
Nemer, M.9
Seidman, C.E.10
Seidman, J.G.11
-
24
-
-
77949808891
-
Heterogeneity of genetic modifiers ensures normal cardiac development
-
Winston JB, Erlich JM, Green CA, Aluko A, Kaiser KA, Takematsu M, Barlow RS, Sureka AO, LaPage MJ, Janss LL, Jay PY. Heterogeneity of genetic modifiers ensures normal cardiac development. Circulation. 2010;121:1313-1321.
-
(2010)
Circulation
, vol.121
, pp. 1313-1321
-
-
Winston, J.B.1
Erlich, J.M.2
Green, C.A.3
Aluko, A.4
Kaiser, K.A.5
Takematsu, M.6
Barlow, R.S.7
Sureka, A.O.8
Lapage, M.J.9
Janss, L.L.10
Jay, P.Y.11
-
25
-
-
78649674330
-
Novel CRELD1 gene mutations in patients with atrioventricular septal defect
-
Guo Y, Shen J, Yuan L, Li F, Wang J, Sun K. Novel CRELD1 gene mutations in patients with atrioventricular septal defect. World J Pediatr. 2010;6:348-352.
-
(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
-
26
-
-
28444474221
-
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects
-
Sarkozy A, Esposito G, Conti E, Digilio MC, Marino B, Calabro R, Pizzuti A, Dallapiccola B. CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects. Am J Med Genet A. 2005;139:236-238.
-
(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
Calabro, R.6
Pizzuti, A.7
Dallapiccola, B.8
-
27
-
-
18344389564
-
Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)
-
Zatyka M, Priestley M, Ladusans EJ, Fryer AE, Mason J, Latif F, Maher ER. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). Clin Genet. 2005;67:526-528.
-
(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
-
28
-
-
79960449197
-
A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India
-
Kusuma L, Dinesh SM, Savitha MR, Krishnamurthy B, Narayanappa D, Ramachandra NB. A maiden report on CRELD1 single-nucleotide polymorphism association in congenital heart disease patients of Mysore, South India. Genet Test Mol Biomarkers. 2011;15:483-487.
-
(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
-
29
-
-
37849053289
-
Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects
-
Posch MG, Perrot A, Schmitt K, Mittelhaus S, Esenwein EM, Stiller B, Geier C, Dietz R, Gessner R, Ozcelik C, Berger F. Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A. 2008;146A: 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
-
30
-
-
0032568615
-
Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities
-
Sago H, Carlson EJ, Smith DJ, Kilbridge J, Rubin EM, Mobley WC, Epstein CJ, Huang TT. Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities. Proc Natl Acad Sci U S A. 1998;95:6256-6261.
-
(1998)
Proc Natl Acad Sci U S A
, vol.95
, pp. 6256-6261
-
-
Sago, H.1
Carlson, E.J.2
Smith, D.J.3
Kilbridge, J.4
Rubin, E.M.5
Mobley, W.C.6
Epstein, C.J.7
Huang, T.T.8
-
31
-
-
7444231620
-
A chromosome 21 critical region does not cause specific Down syndrome phenotypes
-
Olson LE, Richtsmeier JT, Leszl J, Reeves RH. A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Science. 2004;306:687-690.
-
(2004)
Science
, vol.306
, pp. 687-690
-
-
Olson, L.E.1
Richtsmeier, J.T.2
Leszl, J.3
Reeves, R.H.4
-
32
-
-
70450161234
-
A new mouse model for the trisomy of the Abcg1-u2af1 region reveals the complexity of the combinatorial genetic code of Down syndrome
-
Pereira PL, Magnol L, Sahun I, Brault V, Duchon A, Prandini P, Gruart A, Bizot JC, Chadefaux-Vekemans B, Deutsch S, Trovero F. A new mouse model for the trisomy of the Abcg1-u2af1 region reveals the complexity of the combinatorial genetic code of Down syndrome. Hum Mol Genet. 2009;18:4756-4769.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4756-4769
-
-
Pereira, P.L.1
Magnol, L.2
Sahun, I.3
Brault, V.4
Duchon, A.5
Prandini, P.6
Gruart, A.7
Bizot, J.C.8
Chadefaux-Vekemans, B.9
Deutsch, S.10
Trovero, F.11
-
33
-
-
77954461956
-
A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions
-
Yu T, Li Z, Jia Z, Clapcote SJ, Liu C, Li S, Asrar S, Pao A, Chen R, Fan N, Carattini-Rivera S, Bechard AR, Spring S, Henkelman RM. A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions. Hum Mol Genet. 2010;19:2780-2791.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2780-2791
-
-
Yu, T.1
Li, Z.2
Jia, Z.3
Clapcote, S.J.4
Liu, C.5
Li, S.6
Asrar, S.7
Pao, A.8
Chen, R.9
Fan, N.10
Carattini-Rivera, S.11
Bechard, A.R.12
Spring, S.13
Henkelman, R.M.14
-
34
-
-
24944472303
-
DNER acts as a neuron-specific Notch ligand during Bergmann glial development
-
Eiraku M, Tohgo A, Ono K, Kaneko M, Fujishima K, Hirano T, Kengaku M. DNER acts as a neuron-specific Notch ligand during Bergmann glial development. Nat Neurosci. 2005;8:873-880.
-
(2005)
Nat Neurosci
, vol.8
, pp. 873-880
-
-
Eiraku, M.1
Tohgo, A.2
Ono, K.3
Kaneko, M.4
Fujishima, K.5
Hirano, T.6
Kengaku, M.7
-
35
-
-
12344297828
-
Dlk acts as a negative regulator of Notch1 activation through interactions with specific EGF-like repeats
-
Baladron V, Ruiz-Hidalgo MJ, Nueda ML, Diaz-Guerra MJ, Garcia- Ramirez JJ, Bonvini E, Gubina E, Laborda J. Dlk acts as a negative regulator of Notch1 activation through interactions with specific EGF-like repeats. Exp Cell Res. 2005;303:343-359.
-
(2005)
Exp Cell Res
, vol.303
, pp. 343-359
-
-
Baladron, V.1
Ruiz-Hidalgo, M.J.2
Nueda, M.L.3
Diaz-Guerra, M.J.4
Garcia- Ramirez, J.J.5
Bonvini, E.6
Gubina, E.7
Laborda, J.8
|