-
1
-
-
0033958486
-
Wnt-1 regulation of connexin43 in cardiac myocytes
-
Ai, Z., Fischer, A., Spray, D. C., Brown, A. M. and Fishman, G. I. (2000). Wnt-1 regulation of connexin43 in cardiac myocytes. J. Clin. Invest. 105, 161-171.
-
(2000)
J. Clin. Invest.
, vol.105
, pp. 161-171
-
-
Ai, Z.1
Fischer, A.2
Spray, D.C.3
Brown, A.M.4
Fishman, G.I.5
-
2
-
-
0030636780
-
Mutations in human Tbx5 cause limb and cardiac malformation in Holt-Oram syndrome
-
Basson, C. T., Bachinsky, D. R., Lin, R. C., Levi, T., elkins, J. A., Soults, J., Grayzel, D., Kroumpouzou, E., Traill, T. A., Leblanc-Straceski, J. et al. (1997). Mutations in human Tbx5 cause limb and cardiac malformation in Holt-Oram syndrome. Nat. Genet. 15, 30-35.
-
(1997)
Nat. Genet.
, vol.15
, pp. 30-35
-
-
Basson, C.T.1
Bachinsky, D.R.2
Lin, R.C.3
Levi, T.4
Elkins, J.A.5
Soults, J.6
Grayzel, D.7
Kroumpouzou, E.8
Traill, T.A.9
Leblanc-Straceski, J.10
-
3
-
-
0034845561
-
PlexinA2 and sempahorin signaling during cardiac neural crest development
-
Brown, C. B., Feinter, L., Lu, M. M., Ma, X., Webber, A. L., Jia, L., Rapear, J. A. and Epstein, J. A. (2001). PlexinA2 and sempahorin signaling during cardiac neural crest development. Development 128, 3071-3080.
-
(2001)
Development
, vol.128
, pp. 3071-3080
-
-
Brown, C.B.1
Feinter, L.2
Lu, M.M.3
Ma, X.4
Webber, A.L.5
Jia, L.6
Rapear, J.A.7
Epstein, J.A.8
-
4
-
-
17944378083
-
A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease
-
Bruneau, B. G., Nemer, G., Schmitt, J. P., Charron, F., Robitaille, L., Caron, S., Conner, D. A., Gessler, M., Nemer, M., Seidman, C. E. et al. (2001). A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 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
-
5
-
-
0344305639
-
Cranial expression of class 3 secreted semaphorins and their neuropilin receptors
-
Chilton, J. K. and Guthrie, S. (2003). Cranial expression of class 3 secreted semaphorins and their neuropilin receptors. Dev. Dyn. 228, 726-733.
-
(2003)
Dev. Dyn.
, vol.228
, pp. 726-733
-
-
Chilton, J.K.1
Guthrie, S.2
-
6
-
-
0038364111
-
DiGeorge subtypes of nonsyndronmic conotruncal defects: Evidence againt a major role of TBX1 gene
-
Conti, E., Grifone, N., Sarkozy, A., Tandoi, C., Marino, B., Digilio, M. C., Mingarelli, R., Pizzuti, A. and Dallapiccola, B. (2003). DiGeorge subtypes of nonsyndronmic conotruncal defects: evidence againt a major role of TBX1 gene. Eur. J. Hum. Genetic 11, 349-351.
-
(2003)
Eur. J. Hum. Genetic
, vol.11
, pp. 349-351
-
-
Conti, E.1
Grifone, N.2
Sarkozy, A.3
Tandoi, C.4
Marino, B.5
Digilio, M.C.6
Mingarelli, R.7
Pizzuti, A.8
Dallapiccola, B.9
-
7
-
-
0033615959
-
Perlecan maintains the integrity of cartilage and some basement membranes
-
Costell, M., Gustafasson, E., Aszodi, A., Morgelin, M., Bloch, W., Hunziker, E., Addicks, K., Timpl, R. and Fassler, R. (1999). Perlecan maintains the integrity of cartilage and some basement membranes. J. Cell Biol. 147, 1109-1122.
-
(1999)
J. Cell Biol.
, vol.147
, pp. 1109-1122
-
-
Costell, M.1
Gustafasson, E.2
Aszodi, A.3
Morgelin, M.4
Bloch, W.5
Hunziker, E.6
Addicks, K.7
Timpl, R.8
Fassler, R.9
-
8
-
-
0037178732
-
Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice
-
Costell, M., Carmona, R., Gustafsson, E., Gonzalez-Iriarte, M., Fassler, R. and Munoz-Chapuli, R. (2002). Hyperplastic conotruncal endocardial cushions and transposition of great arteries in perlecan-null mice. Circ. Res. 91, 158-164.
-
(2002)
Circ. Res.
, vol.91
, pp. 158-164
-
-
Costell, M.1
Carmona, R.2
Gustafsson, E.3
Gonzalez-Iriarte, M.4
Fassler, R.5
Munoz-Chapuli, R.6
-
9
-
-
0033788894
-
The mutation spectrum in Holt-Oram syndrome
-
Cross, S. J., Ching, Y. H., Li, Q. Y., Armstrong-Buisseret, L., Spranger, S., Lyonnet, S., Bonnet, D., Penttinen, M., Jonveaux, P., Leheup, B. et al. (2000). The mutation spectrum in Holt-Oram syndrome. J. Med. Genet. 37, 785-787.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 785-787
-
-
Cross, S.J.1
Ching, Y.H.2
Li, Q.Y.3
Armstrong-Buisseret, L.4
Spranger, S.5
Lyonnet, S.6
Bonnet, D.7
Penttinen, M.8
Jonveaux, P.9
Leheup, B.10
-
10
-
-
0033013841
-
Evidence for collapsing-1 function in the control of neural crest migration in both trunk and hindbrain regions
-
Eickholt, B. J., Mackenzie, S. L., Graham, A., Walsh, F. S. and Doherty, P. (1999). Evidence for collapsing-1 function in the control of neural crest migration in both trunk and hindbrain regions. Development 162, 2181-2189.
-
(1999)
Development
, vol.162
, pp. 2181-2189
-
-
Eickholt, B.J.1
Mackenzie, S.L.2
Graham, A.3
Walsh, F.S.4
Doherty, P.5
-
11
-
-
0022515192
-
The frequency of dominant cataract and recessive specific-locus mutations in mice derived from 80 or 160 mg ethylnitrosourea per kg body weight treated spermtaogonia
-
Favor, J. (1986). The frequency of dominant cataract and recessive specific-locus mutations in mice derived from 80 or 160 mg ethylnitrosourea per kg body weight treated spermtaogonia. Mutat. Res. 162, 69-80.
-
(1986)
Mutat. Res.
, vol.162
, pp. 69-80
-
-
Favor, J.1
-
12
-
-
0034839802
-
Targeted disruption of semaphoring 3C leads to persistent truncus arteriosus and aortic arch interruption
-
Feiner, L., Webber, A. L., Brown, C. B., Lu, M. M., Feinstein, P., Mombaerts, P., Epstein, J. A. and Raper, J. A. (2001). Targeted disruption of semaphoring 3C leads to persistent truncus arteriosus and aortic arch interruption. Development 128, 3061-3070.
-
(2001)
Development
, vol.128
, pp. 3061-3070
-
-
Feiner, L.1
Webber, A.L.2
Brown, C.B.3
Lu, M.M.4
Feinstein, P.5
Mombaerts, P.6
Epstein, J.A.7
Raper, J.A.8
-
13
-
-
0032498942
-
The pattern of disulfide linkages in the extracellular loop regions of connexin32 suggests a model for the docking interace of gap junctions
-
Foote, C. I., Zhou, L., Zhu, X. and Nicholson, B. J. (1998). The pattern of disulfide linkages in the extracellular loop regions of connexin32 suggests a model for the docking interace of gap junctions. J. Cell Biol. 140, 1187-1197.
-
(1998)
J. Cell Biol.
, vol.140
, pp. 1187-1197
-
-
Foote, C.I.1
Zhou, L.2
Zhu, X.3
Nicholson, B.J.4
-
14
-
-
0033581923
-
A role of the cryptic gene in the correct establishment of the left-right axis
-
Gaio, U., Schweickert, A., Fischer, A., Garratt, A. N., Muller, T., Ozcelik, C., Lankes, W., Strehle, M., Britsch, S., Blum, M. et al. (1999). A role of the cryptic gene in the correct establishment of the left-right axis. Curr. Biol. 9, 1339-1342.
-
(1999)
Curr. Biol.
, vol.9
, pp. 1339-1342
-
-
Gaio, U.1
Schweickert, A.2
Fischer, A.3
Garratt, A.N.4
Muller, T.5
Ozcelik, C.6
Lankes, W.7
Strehle, M.8
Britsch, S.9
Blum, M.10
-
15
-
-
0043267988
-
GATA4 mutations cause human congenital heart defects and reveal an interaction with Tbx5
-
Garg, V., Kathiriya, I. S., Barnes, R., Schluterman, M. K., King, I. N., Butler, C. A., Rothrock, C. R., Eapen, R. S., Hirayama-Yamada, K., Joo, K. et al. (2003). GATA4 mutations cause human congenital heart defects and reveal an interaction with Tbx5. Nature 424, 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
-
16
-
-
16944364984
-
X-finked situs abnormalties result from mutations in ZIC3
-
Gebbia, M., Ferrero, G. B., Pilia, G., Bassi, M. T., Aylsworth, A., Penman-Splitt, M., Bird, L. M., Bamforth, J. S., Burn, J., Schlessinger, D. et al. (1997). X-finked situs abnormalties result from mutations in ZIC3. Nat. Genet. 17, 305-308.
-
(1997)
Nat. Genet.
, vol.17
, pp. 305-308
-
-
Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
Bassi, M.T.4
Aylsworth, A.5
Penman-Splitt, M.6
Bird, L.M.7
Bamforth, J.S.8
Burn, J.9
Schlessinger, D.10
-
17
-
-
0035896527
-
Interaction of c-Src with gap junction protein connexin-43. Role in the regulation of cell-cell communication
-
Giepmans, B. N., Hengeveld, T., Postma, F. R. and Moolenaar, W. H. (2001a). Interaction of c-Src with gap junction protein connexin-43. Role in the regulation of cell-cell communication. J. Biol. Chem. 276, 8544-8549.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 8544-8549
-
-
Giepmans, B.N.1
Hengeveld, T.2
Postma, F.R.3
Moolenaar, W.H.4
-
18
-
-
0035806979
-
Gap junction protein connexin-43 interacts directly with microtubules
-
Giepmans, B. N., Verlaan, I., Hengeveld, T., Janssen, H., Calafat, J., Falk, M. M. and Moolenaar, W. H. (2001b). Gap junction protein connexin-43 interacts directly with microtubules. Curr. Biol. 11, 1364-1368.
-
(2001)
Curr. Biol.
, vol.11
, pp. 1364-1368
-
-
Giepmans, B.N.1
Verlaan, I.2
Hengeveld, T.3
Janssen, H.4
Calafat, J.5
Falk, M.M.6
Moolenaar, W.H.7
-
19
-
-
0035653927
-
Mutation analysis of TBX1 in nondeleted patients with features of DGS/VCFS or isolated cardiovascular defects
-
Gong, W., Gottlieb, S., Colins, J., Blescia, A., Dietz, H., Goldmuntz, E., McDonald-McGinn, D. M., Zackai, E. H., Emmanuel, B. S., Driscoll, A. et al. (2001). Mutation analysis of TBX1 in nondeleted patients with features of DGS/VCFS or isolated cardiovascular defects. J. Med. Genet. 38, E45.
-
(2001)
J. Med. Genet.
, vol.38
-
-
Gong, W.1
Gottlieb, S.2
Colins, J.3
Blescia, A.4
Dietz, H.5
Goldmuntz, E.6
McDonald-McGinn, D.M.7
Zackai, E.H.8
Emmanuel, B.S.9
Driscoll, A.10
-
20
-
-
0029762944
-
Doppler echocardiography of normal and abnormal embryonic mouse heart
-
Gui, Y.-H., Linask, K., Khowsathit, P. and Huhta, J. (1996). Doppler echocardiography of normal and abnormal embryonic mouse heart. Ped. Res. 40, 633-642.
-
(1996)
Ped. Res.
, vol.40
, pp. 633-642
-
-
Gui, Y.-H.1
Linask, K.2
Khowsathit, P.3
Huhta, J.4
-
21
-
-
0035098436
-
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
-
Guris, D. L., Fantes, J., Tara, D., Druker, B. J. and Imamoto, A. (2001) Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat. Genet. 27, 293-298.
-
(2001)
Nat. Genet.
, vol.27
, pp. 293-298
-
-
Guris, D.L.1
Fantes, J.2
Tara, D.3
Druker, B.J.4
Imamoto, A.5
-
22
-
-
0032726952
-
Perlecan is essential for cartilage and cephalic development
-
Hirawsawa, E. A., Watanabe, H., Takami, H., Hassell, J. R. and Yamada, Y. (1999). Perlecan is essential for cartilage and cephalic development. Nature 23, 354-358.
-
(1999)
Nature
, vol.23
, pp. 354-358
-
-
Hirawsawa, E.A.1
Watanabe, H.2
Takami, H.3
Hassell, J.R.4
Yamada, Y.5
-
23
-
-
0029000773
-
Incidence of congenital heart disease. II. Prenatal incidence
-
Hoffman, J. I. E. (1995). Incidence of congenital heart disease. II. Prenatal incidence. Pediatr. Cardiol. 16, 155-165.
-
(1995)
Pediatr. Cardiol.
, vol.16
, pp. 155-165
-
-
Hoffman, J.I.E.1
-
24
-
-
0037134945
-
The incidence of congenital heart disease
-
Hoffman, J. I. E. and Kaplan, S. (2002). The incidence of congenital heart disease. Pediatr. Cardiol. 39, 1890-1900.
-
(2002)
Pediatr. Cardiol.
, vol.39
, pp. 1890-1900
-
-
Hoffman, J.I.E.1
Kaplan, S.2
-
25
-
-
0032517847
-
Gap junction mediated cell-cell communication: Modulates mouse neural crest migration
-
Huang, G. Y., Cooper, E. S., Waldo, K., Kirby, M. L., Gilula, N. B. and Lo, C. W. (1998a). Gap junction mediated cell-cell communication: modulates mouse neural crest migration. J. Cell Biol. 143, 1725-1734.
-
(1998)
J. Cell Biol.
, vol.143
, pp. 1725-1734
-
-
Huang, G.Y.1
Cooper, E.S.2
Waldo, K.3
Kirby, M.L.4
Gilula, N.B.5
Lo, C.W.6
-
26
-
-
0032100436
-
Alteration in connexin 43 gap junction gene dosage impairs conotruncal heart development
-
Huang, G., Wessels, A., Smith, B., Linask, K., Ewart, J. and Lo, C. (1998b). Alteration in connexin 43 gap junction gene dosage impairs conotruncal heart development. Dev. Biol. 198, 32-44.
-
(1998)
Dev. Biol.
, vol.198
, pp. 32-44
-
-
Huang, G.1
Wessels, A.2
Smith, B.3
Linask, K.4
Ewart, J.5
Lo, C.6
-
27
-
-
0037775854
-
Neural crest and cardiovascular development: A 20 year perspective
-
Hutson, M. R. and Kirby, M. L. (2003). Neural crest and cardiovascular development: a 20 year perspective. Birth Defects Res. Part C. Embryo Today 69, 2-13.
-
(2003)
Birth Defects Res. Part C. Embryo Today
, vol.69
, pp. 2-13
-
-
Hutson, M.R.1
Kirby, M.L.2
-
28
-
-
0035098557
-
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
-
Jerome, L. and Papaioannou, V. (2001). DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat. Genet. 27, 286-240.
-
(2001)
Nat. Genet.
, vol.27
, pp. 240-286
-
-
Jerome, L.1
Papaioannou, V.2
-
29
-
-
0344258576
-
Smith-Lemli-Opitz syndrome and the DHCR7 gene
-
Jira, P. E., Waterham, H. R., Wanders, R. J. A., Smeitink, J. A. M., Sengers, R. C. A. and Wevers, R. A. (2003). Smith-Lemli-Opitz syndrome and the DHCR7 gene. Ann. Human Genet. 67, 269-280.
-
(2003)
Ann. Human Genet.
, vol.67
, pp. 269-280
-
-
Jira, P.E.1
Waterham, H.R.2
Wanders, R.J.A.3
Smeitink, J.A.M.4
Sengers, R.C.A.5
Wevers, R.A.6
-
30
-
-
0036848353
-
Okihiro syndrome is caused by SALL4 mutations
-
Kohlhase, J., Heinrich, M., Schubert, L., Liebers, M., Kispert, A., Laccone, F., Turnpenny, P., Winter, R. M. and Reardon, W. (2002). Okihiro syndrome is caused by SALL4 mutations. Hum. Mol. Genet. 23, 2979-2987.
-
(2002)
Hum. Mol. Genet.
, vol.23
, pp. 2979-2987
-
-
Kohlhase, J.1
Heinrich, M.2
Schubert, L.3
Liebers, M.4
Kispert, A.5
Laccone, F.6
Turnpenny, P.7
Winter, R.M.8
Reardon, W.9
-
31
-
-
0027787683
-
The semaphoring genes encode a family of transmembrane and secreted growth cone guidance molecules
-
Kolodkin, A. L., Matthes, D. I. and Goodman, C. S. (1993). The semaphoring genes encode a family of transmembrane and secreted growth cone guidance molecules. Cell 75, 1389-1399.
-
(1993)
Cell
, vol.75
, pp. 1389-1399
-
-
Kolodkin, A.L.1
Matthes, D.I.2
Goodman, C.S.3
-
32
-
-
0032546965
-
Collapsin-1 covalently dimerizes, and dimerization is necessary for collapsing activity
-
Koppel, A. M. and Raper, J. A. (1998). Collapsin-1 covalently dimerizes, and dimerization is necessary for collapsing activity. J. Biol. Chem. 273, 15708-15713.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 15708-15713
-
-
Koppel, A.M.1
Raper, J.A.2
-
33
-
-
0030886550
-
A 70 amino acid region within the semaphorin domain activates specific cellular response of semaphoring family members
-
Koppel, A. M., Feiner, L., Kobayashi, H. and Raper, J. A. (1997). A 70 amino acid region within the semaphorin domain activates specific cellular response of semaphoring family members. Neuron 19, 531-537.
-
(1997)
Neuron
, vol.19
, pp. 531-537
-
-
Koppel, A.M.1
Feiner, L.2
Kobayashi, H.3
Raper, J.A.4
-
34
-
-
0038113291
-
Noninvasive phenotypic analysis of cardiovascular structure and function in fetal mice using ultrasound
-
Leatherbury, L., Yu, Q. and Lo, C. W. (2003). Noninvasive phenotypic analysis of cardiovascular structure and function in fetal mice using ultrasound. Birth Defects Res. Part C Embryo Today 69, 83-91.
-
(2003)
Birth Defects Res. Part C Embryo Today
, vol.69
, pp. 83-91
-
-
Leatherbury, L.1
Yu, Q.2
Lo, C.W.3
-
35
-
-
0038875342
-
Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1
-
Li, L., Krantz, I. D., Deng, Y., Genin, A., Banata, A. B., Collins, C. C., Qi, M., Trask, B. J., Kuo, W. L., Cochran, J. et al. (1997a). Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 16, 243-251.
-
(1997)
Nat. Genet.
, vol.16
, pp. 243-251
-
-
Li, L.1
Krantz, I.D.2
Deng, Y.3
Genin, A.4
Banata, A.B.5
Collins, C.C.6
Qi, M.7
Trask, B.J.8
Kuo, W.L.9
Cochran, J.10
-
36
-
-
1842413728
-
Holt-Oram syndrome is caused by mutations in Tbx5, a member of the Brachyury (T) gene family
-
Li, Q. Y., Newbury-Ecob, R. A., Terrell, J. A., Wilson, D. I., Curtis, A. R., Yi, C. H., Gebuhr, T., Bullen, P. J., Robson, S. C., Strachan, T. et al. (1997b). Holt-Oram syndrome is caused by mutations in Tbx5, a member of the Brachyury (T) gene family. Nat. Genet. 15, 21-29.
-
(1997)
Nat. Genet.
, vol.15
, pp. 21-29
-
-
Li, Q.Y.1
Newbury-Ecob, R.A.2
Terrell, J.A.3
Wilson, D.I.4
Curtis, A.R.5
Yi, C.H.6
Gebuhr, T.7
Bullen, P.J.8
Robson, S.C.9
Strachan, T.10
-
37
-
-
0036333778
-
An essential role for connexin43 gap junctions in mouse coronary artery development
-
Li, W. E. I, Waldo, K., Linask, K. L., Chen, T., Wessels, A., Parmacek, M. S., Kirby, M. L. and Lo, C. W. (2002). An essential role for connexin43 gap junctions in mouse coronary artery development. Development 129, 2031-2042.
-
(2002)
Development
, vol.129
, pp. 2031-2042
-
-
Li, W.E.I.1
Waldo, K.2
Linask, K.L.3
Chen, T.4
Wessels, A.5
Parmacek, M.S.6
Kirby, M.L.7
Lo, C.W.8
-
38
-
-
0036019517
-
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10P
-
Lichtner, P., Attie-Bitach, T., Schuffenhauer, S., Henwood, J., Bouvagnet, P., Scambler, P. J., Meitinger, T. and Vekemans, M. (2002). Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10P. J. Mol. Med. 81, 431-442.
-
(2002)
J. Mol. Med.
, vol.81
, pp. 431-442
-
-
Lichtner, P.1
Attie-Bitach, T.2
Schuffenhauer, S.3
Henwood, J.4
Bouvagnet, P.5
Scambler, P.J.6
Meitinger, T.7
Vekemans, M.8
-
39
-
-
0035263599
-
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
-
Lindsay, E. A., Vitelli, F., Su, H., Morishima, M., Huynh, T., Pramparao, T., Jurecic, V., Ogunrinu, G., Sutherland, H. F., Scambler, P. J. et al. (2001). Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410 97-101.
-
(2001)
Nature
, vol.410
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
Morishima, M.4
Huynh, T.5
Pramparao, T.6
Jurecic, V.7
Ogunrinu, G.8
Sutherland, H.F.9
Scambler, P.J.10
-
40
-
-
0027373701
-
Collapsin: A protein in brain that induces the collapse and paralysis of neuronal growth cones
-
Luo, Y., Raible, D. and Raper, J. A. (1993). Collapsin: a protein in brain that induces the collapse and paralysis of neuronal growth cones. Cell 75, 217-227.
-
(1993)
Cell
, vol.75
, pp. 217-227
-
-
Luo, Y.1
Raible, D.2
Raper, J.A.3
-
41
-
-
0037027504
-
Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice
-
Maki, J. M., Rasanen, J., Tikkanen, H., Sormunen, R., Makikallio, K. I, Kivirikko, K. I. and Soininen, R. (2002). Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice. Circulation 106, 2503-2509.
-
(2002)
Circulation
, vol.106
, pp. 2503-2509
-
-
Maki, J.M.1
Rasanen, J.2
Tikkanen, H.3
Sormunen, R.4
Makikallio, K.I.5
Kivirikko, K.I.6
Soininen, R.7
-
42
-
-
17744395906
-
Tbx1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
-
Merscher, S., Funke, B., Epstein, J., Heyer, J., Puech, A., Lu, M., Xavier, R., Demay, M., Russell, R., Factor, S. et al. (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.3
Heyer, J.4
Puech, A.5
Lu, M.6
Xavier, R.7
Demay, M.8
Russell, R.9
Factor, S.10
-
43
-
-
0025852989
-
DiGeorge anomaly associated with 10p deletion
-
Monaco, G., Pignata, C., Rossi, E., Mascarello, O., Cocozza, S. and Ciccimarra, F. (1991). DiGeorge anomaly associated with 10p deletion. Am. J. Med Genet. 39, 215-216.
-
(1991)
Am. J. Med. Genet.
, vol.39
, pp. 215-216
-
-
Monaco, G.1
Pignata, C.2
Rossi, E.3
Mascarello, O.4
Cocozza, S.5
Ciccimarra, F.6
-
44
-
-
2442648749
-
Tbx5 mutations and congenital heart disease: Holt-Oram syndrome revealed
-
Mori, A. D. and Bruneau, B. G. (2004). Tbx5 mutations and congenital heart disease: Holt-Oram syndrome revealed. Curr. Opin. Cardiol. 19, 211-215.
-
(2004)
Curr. Opin. Cardiol.
, vol.19
, pp. 211-215
-
-
Mori, A.D.1
Bruneau, B.G.2
-
45
-
-
0032007445
-
Efficient localization of mutations by interval haplotype analysis
-
Neuhaus, I. and Beier, D. (1998). Efficient localization of mutations by interval haplotype analysis. Mamm. Genome 9, 150-154.
-
(1998)
Mamm. Genome
, vol.9
, pp. 150-154
-
-
Neuhaus, I.1
Beier, D.2
-
46
-
-
0030914459
-
Mutations in the human Jagged 1 gene are responsible for Alagille syndrome
-
Oda, T., Elkahloun, A. G., Pike, B. L., Okajima, K., Krantz, I. D., Genin, A., Piccoli, D. A., Meltzer, P. S., Spinner, N. B., Collins, F. S. et al. (1997). Mutations in the human Jagged 1 gene are responsible for Alagille syndrome. Nat. Genet. 16, 235-242.
-
(1997)
Nat. Genet.
, vol.16
, pp. 235-242
-
-
Oda, T.1
Elkahloun, A.G.2
Pike, B.L.3
Okajima, K.4
Krantz, I.D.5
Genin, A.6
Piccoli, D.A.7
Meltzer, P.S.8
Spinner, N.B.9
Collins, F.S.10
-
47
-
-
0030837018
-
The signaling pathway mediated by the type IIB activin receptor contorlws axial patterning and lateral asymmetry in the mouse
-
Oh, S. P. and Li, E. (1997). The signaling pathway mediated by the type IIB activin receptor contorlws axial patterning and lateral asymmetry in the mouse. Genes Dev. 11, 1812-1826.
-
(1997)
Genes Dev.
, vol.11
, pp. 1812-1826
-
-
Oh, S.P.1
Li, E.2
-
48
-
-
0029615411
-
Mutagenesis and behaviorial screening for altered circadian activity identifies the mouse mutant, Wheels
-
Pickard, G., Sollars, P., Rinchik, E., Nolan, P. and Bucan, M. (1995). Mutagenesis and behaviorial screening for altered circadian activity identifies the mouse mutant, Wheels. Brain Res. 705, 255-266.
-
(1995)
Brain Res.
, vol.705
, pp. 255-266
-
-
Pickard, G.1
Sollars, P.2
Rinchik, E.3
Nolan, P.4
Bucan, M.5
-
49
-
-
0028907907
-
Cardiac malformation in neonatal mice lacking connexin43
-
Reaume, A. G., de Sousa, P. A., Kulkarni, S., Langille, B. L., Zhu, D., Davies, T. C., Juneja, S. C., Kidder, G. M. and Rossant, J. (1995). Cardiac malformation in neonatal mice lacking connexin43. Science 267, 1831-1834.
-
(1995)
Science
, vol.267
, pp. 1831-1834
-
-
Reaume, A.G.1
de Sousa, P.A.2
Kulkarni, S.3
Langille, B.L.4
Zhu, D.5
Davies, T.C.6
Juneja, S.C.7
Kidder, G.M.8
Rossant, J.9
-
50
-
-
0003058291
-
Prevalence of congenital heart disease
-
2nd Edition, Baltimore, MD: Lippincott Williams & Wilkins
-
Rosenthal, G. (1998). Prevalence of congenital heart disease. In The Science and Practice of Pediatric Cardiology, 2nd Edition, pp. 1083-1105. Baltimore, MD: Lippincott Williams & Wilkins.
-
(1998)
The Science and Practice of Pediatric Cardiology
, pp. 1083-1105
-
-
Rosenthal, G.1
-
51
-
-
0034022637
-
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus
-
Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M. and Gelb, B. D. (2000). Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat. Genet. 25, 42-46.
-
(2000)
Nat. Genet.
, vol.25
, pp. 42-46
-
-
Satoda, M.1
Zhao, F.2
Diaz, G.A.3
Burn, J.4
Goodship, J.5
Davidson, H.R.6
Pierpont, M.E.M.7
Gelb, B.D.8
-
52
-
-
0032479573
-
Congenital heart disease caused by mutations in the transcription factor NKX2.5
-
Schott, J. J., Benson, D. W., Basson, C. T., Pease, W., Silberbach, G. M., Moak, J. P., Maron, B. J., Seidman, C. E. and Seidman, J. G. (1998). Congenital heart disease caused by mutations in the transcription factor NKX2.5. Science 281, 108-111.
-
(1998)
Science
, vol.281
, pp. 108-111
-
-
Schott, J.J.1
Benson, D.W.2
Basson, C.T.3
Pease, W.4
Silberbach, G.M.5
Moak, J.P.6
Maron, B.J.7
Seidman, C.E.8
Seidman, J.G.9
-
53
-
-
13144252168
-
Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)
-
Schuffenhauer, S., Lichtner, P., Peykar-Derakhshandeh, P., Marken, J., Haas, O. A., Back, E., Wolff, G., Zabel, B., Barisic, I, Rauch, A. et al. (1998). Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J. Hum. Genet. 6, 213-225.
-
(1998)
Eur J. Hum. Genet.
, vol.6
, pp. 213-225
-
-
Schuffenhauer, S.1
Lichtner, P.2
Peykar-Derakhshandeh, P.3
Marken, J.4
Haas, O.A.5
Back, E.6
Wolff, G.7
Zabel, B.8
Barisic, I.9
Rauch, A.10
-
54
-
-
0345310062
-
Noninvasive in utero imaging of mouse embryonic heart development with 40-MHz echocardiography
-
Srinivaswan, S., Scott, B. H., Aristizabal, O., Lia, K., Labow, M., Artman, M. and Turnbull, D. (1998). Noninvasive in utero imaging of mouse embryonic heart development with 40-MHz echocardiography. Circulation 98, 912-918.
-
(1998)
Circulation
, vol.98
, pp. 912-918
-
-
Srinivaswan, S.1
Scott, B.H.2
Aristizabal, O.3
Lia, K.4
Labow, M.5
Artman, M.6
Turnbull, D.7
-
55
-
-
0040615608
-
The molecular basis of congenital cardiac disease
-
Strauss, A. (1998). The molecular basis of congenital cardiac disease. Semin. Thoracic Cardiovasc. Surg. 1, 179-188.
-
(1998)
Semin. Thoracic Cardiovasc. Surg.
, vol.1
, pp. 179-188
-
-
Strauss, A.1
-
56
-
-
0142087920
-
Identifying new mouse models of cardiovascular disease: A review of high throughput screens of mutagenized and inbred strains
-
Svenson, K., Bogue, M. and Peters, L. (2003). Identifying new mouse models of cardiovascular disease: a review of high throughput screens of mutagenized and inbred strains. J. Appl. Physiol. 94, 1650-1659.
-
(2003)
J. Appl. Physiol.
, vol.94
, pp. 1650-1659
-
-
Svenson, K.1
Bogue, M.2
Peters, L.3
-
57
-
-
2442516485
-
To move or not to move?
-
Tamagnone, L. and Comoglio, P. M. (2004). To move or not to move? EMBO Rep. 5, 356-361.
-
(2004)
EMBO Rep.
, vol.5
, pp. 356-361
-
-
Tamagnone, L.1
Comoglio, P.M.2
-
58
-
-
18344385476
-
Mutations in PTPN11 encoding for protein tyhrosine phosphatase SHP-2, cause Noonan syndrome
-
Tartaglia, M., Mehler, E. L., Goldberg, R., Zampino, G., Brunner, H. G., Kremer, H., van der Burgt, I., Crosby, A. H., Ion, A., Jeffery, S. et al. (2001). Mutations in PTPN11 encoding for protein tyhrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29, 465-468.
-
(2001)
Nat. Genet.
, vol.29
, pp. 465-468
-
-
Tartaglia, M.1
Mehler, E.L.2
Goldberg, R.3
Zampino, G.4
Brunner, H.G.5
Kremer, H.6
van der Burgt, I.7
Crosby, A.H.8
Ion, A.9
Jeffery, S.10
-
59
-
-
0032557460
-
Direct association of the gap junction protein connexin-43 with ZO-1 in cardiac myocytes
-
Toyofuku, T., Yabuki, M., Otsu, K., Kuzuya, T., Hori, M. and Tada, M. (1998). Direct association of the gap junction protein connexin-43 with ZO-1 in cardiac myocytes. J. Biol. Chem. 273 12725-12731.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 12725-12731
-
-
Toyofuku, T.1
Yabuki, M.2
Otsu, K.3
Kuzuya, T.4
Hori, M.5
Tada, M.6
-
60
-
-
0032991123
-
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome
-
Van Esch, H., Groenen, P., Fryns, J., van de Ven, W. and Devriendt, K. (1999). The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome. Genet. Couns. 10, 59-65.
-
(1999)
Genet. Couns.
, vol.10
, pp. 59-65
-
-
Van Esch, H.1
Groenen, P.2
Fryns, J.3
van de Ven, W.4
Devriendt, K.5
-
61
-
-
0028241271
-
Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior
-
Vitaterna, M., King, D.-P., Chang, A., Kornhauser, J., Lowrey, P., McDonald, J., Dove, W., Pinto, L., Truek, F. and Takahashi, J. (1994). Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science 264, 719-725.
-
(1994)
Science
, vol.264
, pp. 719-725
-
-
Vitaterna, M.1
King, D.-P.2
Chang, A.3
Kornhauser, J.4
Lowrey, P.5
McDonald, J.6
Dove, W.7
Pinto, L.8
Truek, F.9
Takahashi, J.10
-
62
-
-
0034124307
-
Optimal N-ethyl-N-nitrosourea (ENU) doses for inbred mouse strains
-
Weber, J., Salinger, A. and Justice, M. (2000). Optimal N-ethyl-N-nitrosourea (ENU) doses for inbred mouse strains. Genesis 26, 230-233.
-
(2000)
Genesis
, vol.26
, pp. 230-233
-
-
Weber, J.1
Salinger, A.2
Justice, M.3
-
63
-
-
0036338736
-
Phenotyping transgenic embryos: A rapid 3-D screening method based on episcopic fluorescence image capturing
-
Weninger, W. J. and Mohun, T. (2002). Phenotyping transgenic embryos: a rapid 3-D screening method based on episcopic fluorescence image capturing. Nat. Genet. 30, 59-65.
-
(2002)
Nat. Genet.
, vol.30
, pp. 59-65
-
-
Weninger, W.J.1
Mohun, T.2
-
64
-
-
10744223651
-
Role of Tbx1 in human del22q11.2 syndrome
-
Yagi, H., Furutani, Y., Hamada, H., Sasaki, T., Asakawa, S., Mionoshima, S., Ichida, F., Joo, K., Kimura, M., Imamura, S. et al. (2003). Role of Tbx1 in human del22q11.2 syndrome. Lancet 362 1366-1373.
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Sasaki, T.4
Asakawa, S.5
Mionoshima, S.6
Ichida, F.7
Joo, K.8
Kimura, M.9
Imamura, S.10
-
65
-
-
0037383523
-
Functional attenuation of UFD11, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos
-
Yamagishi, C., Heirck, B., Gittenberger-de Groot, A., Yamagishi, H. and Srivastava, D. (2003). Functional attenuation of UFD11, a 22q11.2 deletion syndrome candidate gene, leads to cardiac outflow septation defects in chicken embryos. Pediatr. Res. 53 546-553
-
(2003)
Pediatr. Res.
, vol.53
, pp. 546-553
-
-
Yamagishi, C.1
Heirck, B.2
Gittenberger-de Groot, A.3
Yamagishi, H.4
Srivastava, D.5
-
66
-
-
0037077429
-
Applications for multifrequency ultrasound biomicroscopy in mice from implantation to adulthood
-
Zhou, Y., Foster, F., Qu, D., Zhang, M., Harasiewicz, K. and Adamson, S. (2002). Applications for multifrequency ultrasound biomicroscopy in mice from implantation to adulthood. Physiol. Genomics 10, 1-14.
-
(2002)
Physiol. Genomics
, vol.10
, pp. 1-14
-
-
Zhou, Y.1
Foster, F.2
Qu, D.3
Zhang, M.4
Harasiewicz, K.5
Adamson, S.6
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