-
1
-
-
0031832127
-
The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome
-
Bourgeois P, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F. 1998. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet 7:945-957.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 945-957
-
-
Bourgeois, P.1
Bolcato-Bellemin, A.L.2
Danse, J.M.3
Bloch-Zupan, A.4
Yoshiba, K.5
Stoetzel, C.6
Perrin-Schmitt, F.7
-
2
-
-
0028933142
-
Twist is required in head mesenchyme for cranial neural tube morphogenesis
-
Chen ZF, Behringer RR. 1995. Twist is required in head mesenchyme for cranial neural tube morphogenesis. Genes Dev 9:686-699.
-
(1995)
Genes Dev
, vol.9
, pp. 686-699
-
-
Chen, Z.F.1
Behringer, R.R.2
-
3
-
-
0031012353
-
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
-
El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, Bolcato-Bellemin AL, Munnich A, Bonaventure J. 1997. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15:42-46.
-
(1997)
Nat Genet
, vol.15
, pp. 42-46
-
-
El Ghouzzi, V.1
Le Merrer, M.2
Perrin-Schmitt, F.3
Lajeunie, E.4
Benit, P.5
Renier, D.6
Bourgeois, P.7
Bolcato-Bellemin, A.L.8
Munnich, A.9
Bonaventure, J.10
-
4
-
-
0035137651
-
In vivo modulation of FGF biological activity alters cranial suture fate
-
Greenwald JA, Mehrara BJ, Spector JA, Warren SM, Fagenholz PJ, Smith LE, Bouletreau PJ, Crisera FE, Ueno H, Longaker MT. 2001. In vivo modulation of FGF biological activity alters cranial suture fate. Am J Pathol 158:441-452.
-
(2001)
Am J Pathol
, vol.158
, pp. 441-452
-
-
Greenwald, J.A.1
Mehrara, B.J.2
Spector, J.A.3
Warren, S.M.4
Fagenholz, P.J.5
Smith, L.E.6
Bouletreau, P.J.7
Crisera, F.E.8
Ueno, H.9
Longaker, M.T.10
-
5
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, De Luna RI, Delgado CG, Gonzalez-Ramos M, Kline AD, Jabs EW. 1997. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36-41.
-
(1997)
Nat Genet
, vol.15
, pp. 36-41
-
-
Howard, T.D.1
Paznekas, W.A.2
Green, E.D.3
Chiang, L.C.4
Ma, N.5
De Luna, R.I.6
Delgado, C.G.7
Gonzalez-Ramos, M.8
Kline, A.D.9
Jabs, E.W.10
-
6
-
-
0032231374
-
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1
-
Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SR, Walsh S, Barrow M, Njolstad PR, Kunz J, Ashworth GJ, Wall SA, Kearney L, Wilkie AO. 1998. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63:1283-1293.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1283-1293
-
-
Johnson, D.1
Horsley, S.W.2
Moloney, D.M.3
Oldridge, M.4
Twigg, S.R.5
Walsh, S.6
Barrow, M.7
Njolstad, P.R.8
Kunz, J.9
Ashworth, G.J.10
Wall, S.A.11
Kearney, L.12
Wilkie, A.O.13
-
8
-
-
0028144604
-
Genetic heterogeneity among craniosynostosis syndromes: Mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p
-
Lewanda AF, Cohen Jr MM, Jackson CE, Taylor EW, Li X, Beloff M, Day D, Clarren SK, Ortiz R, Garcia C, Hauselman E, Figueroa A, Wulfsberg E, Wilson M, Warman ML, Padwa BL, Whiteman DA, Mulliken JB, Jabs EW. 1994. Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19:115-119.
-
(1994)
Genomics
, vol.19
, pp. 115-119
-
-
Lewanda, A.F.1
Cohen M.M., Jr.2
Jackson, C.E.3
Taylor, E.W.4
Li, X.5
Beloff, M.6
Day, D.7
Clarren, S.K.8
Ortiz, R.9
Garcia, C.10
Hauselman, E.11
Figueroa, A.12
Wulfsberg, E.13
Wilson, M.14
Warman, M.L.15
Padwa, B.L.16
Whiteman, D.A.17
Mulliken, J.B.18
Jabs, E.W.19
-
9
-
-
0033662265
-
Cranial sutures as intramembranous bone growth sites
-
Opperman LA. 2000. Cranial sutures as intramembranous bone growth sites. Dev Dyn 219:472-485.
-
(2000)
Dev Dyn
, vol.219
, pp. 472-485
-
-
Opperman, L.A.1
-
10
-
-
0027487135
-
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22
-
Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen Jr MM, Jabs EW. 1993. Saethre-Chotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet 47637-639.
-
(1993)
Am J Med Genet
, pp. 47637-47639
-
-
Reid, C.S.1
McMorrow, L.E.2
McDonald-McGinn, D.M.3
Grace, K.J.4
Ramos, F.J.5
Zackai, E.H.6
Cohen M.M., Jr.7
Jabs, E.W.8
-
11
-
-
0033980511
-
Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice
-
Richtsmeier JT, Baxter LL, Reeves RH. 2000. Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice. Dev Dyn 217:137-145.
-
(2000)
Dev Dyn
, vol.217
, pp. 137-145
-
-
Richtsmeier, J.T.1
Baxter, L.L.2
Reeves, R.H.3
-
12
-
-
0030753595
-
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
-
Rose CS, Patel P, Reardon W, Malcolm S, Winter RM. 1997. The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases. Hum Mol Genet 6:1369-1373.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1369-1373
-
-
Rose, C.S.1
Patel, P.2
Reardon, W.3
Malcolm, S.4
Winter, R.M.5
-
13
-
-
0028287077
-
Evidence for locus heterogeneity in acrocephalosyndactyly: A refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p-and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q
-
van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM. 1994. Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p-and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet 54:669-674.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 669-674
-
-
Van Herwerden, L.1
Rose, C.S.2
Reardon, W.3
Brueton, L.A.4
Weissenbach, J.5
Malcolm, S.6
Winter, R.M.7
-
14
-
-
0030769180
-
Craniosynostosis: Genes and mechanisms
-
Wilkie AO. 1997. Craniosynostosis: genes and mechanisms. Hum Mol Genet 6:1647-1656.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1647-1656
-
-
Wilkie, A.O.1
|