-
2
-
-
0036788297
-
Craniosynostosis in Twist heterozygous mice: A model for Saethre-Chotzen syndrome
-
Carver EA, Oram KF, Gridley T: Craniosynostosis in Twist heterozygous mice: a model for Saethre-Chotzen syndrome. Anat Rec 2002;268:90-92.
-
(2002)
Anat Rec
, vol.268
, pp. 90-92
-
-
Carver, E.A.1
Oram, K.F.2
Gridley, T.3
-
3
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
DOI 10.1038/ng0197-36
-
Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, et al: Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997;15:36-41. (Pubitemid 27014947)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, 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.O.6
Delgado, C.G.7
Gonzalez-Ramos, M.8
Kline, A.D.9
Jabs, E.W.10
-
4
-
-
0031012353
-
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
-
DOI 10.1038/ng0197-42
-
El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, et al: Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997;15:42-46. (Pubitemid 27014948)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 42-46
-
-
Ghouzzi, V.E.1
Merrer, M.L.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
-
5
-
-
0030753595
-
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases
-
DOI 10.1093/hmg/6.8.1369
-
Rose CS, Patel P, Reardon W, Malcolm S, Winter RM: 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 1997;6:1369-1373. (Pubitemid 27351080)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.8
, pp. 1369-1373
-
-
Rose, C.S.P.1
Patel, P.2
Reardon, W.3
Malcolm, S.4
Winter, R.M.5
-
6
-
-
29644443643
-
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: Functional differentiation from Muenke coronal synostosis syndrome
-
DOI 10.1038/sj.ejhg.5201507, PII 5201507
-
Kress W, Schropp C, Lieb G, Petersen B, Büsse-Ratzka M, et al: Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 2006;14:39-48. (Pubitemid 43019082)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.1
, pp. 39-48
-
-
Kress, W.1
Schropp, C.2
Lieb, G.3
Petersen, B.4
Busse-Ratzka, M.5
Kunz, J.6
Reinhart, E.7
Schafer, W.-D.8
Sold, J.9
Hoppe, F.10
Pahnke, J.11
Trusen, A.12
Sorensen, N.13
Krauss, J.14
Collmann, H.15
-
7
-
-
16944367030
-
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
-
Muenke M, Gripp KW, McDonald-McGinn DM: A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997;60:555-564. (Pubitemid 27097603)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.3
, pp. 555-564
-
-
Muenke, M.1
Gripp, K.W.2
McDonald-McGinn, D.M.3
Gaudenz, K.4
Whitaker, L.A.5
Bartlett, S.P.6
Markowitz, R.I.7
Robin, N.H.8
Nwokoro, N.9
Mulvihill, J.J.10
Losken, H.W.11
Mulliken, J.B.12
Guttmacher, A.E.13
Wilroy, R.S.14
Clarke, L.A.15
Hollway, G.16
Ades, L.C.17
Haan, E.A.18
Mulley, J.C.19
Cohen Jr., M.M.20
Bellus, G.A.21
Francomano, C.A.22
Moloney, D.M.23
Wall, S.A.24
Wilkie, A.O.M.25
Zackai, E.H.26
more..
-
8
-
-
0016838555
-
The Saethre-Chotzen syndrome
-
Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, et al: The Saethre-Chotzen syndrome. Birth Defects Orig Artic Ser 1975;11:190-225.
-
(1975)
Birth Defects Orig Artic Ser
, vol.11
, pp. 190-225
-
-
Pantke, O.A.1
Cohen Jr., M.M.2
Witkop Jr., C.J.3
Feingold, M.4
Schaumann, B.5
-
9
-
-
0036569364
-
Saethre-Chotzen syndrome: Notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation
-
DOI 10.1002/ajmg.10349
-
Dollfus H, Biswas P, Kumaramanickavel G, Stoetzel C, Quillet R, et al: Saethre-Chotzen syndrome: noteable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet 2002;109:218-225. (Pubitemid 34438667)
-
(2002)
American Journal of Medical Genetics
, vol.109
, Issue.3
, pp. 218-225
-
-
Dollfus, H.1
Biswas, P.2
Kumaramanickavel, G.3
Stoetzel, C.4
Quillet, R.5
Biswas, J.6
Lajeunie, E.7
Renier, D.8
Perrin-Schmitt, F.9
-
10
-
-
0002757125
-
Saethre-Chotzen syndrome
-
Cohen MM, McLean RE eds:, New York, Oxford University Press
-
Cohen MM: Saethre-Chotzen syndrome; in Cohen MM, McLean RE (eds): Craniosynostosis - Diagnosis, Evaluation, and Management. New York, Oxford University Press, 2000, pp 374-376.
-
(2000)
Craniosynostosis - Diagnosis, Evaluation, and Management
, pp. 374-376
-
-
Cohen, M.M.1
-
11
-
-
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, et al: A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 1998;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
-
12
-
-
0038182228
-
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation
-
Trusen A, Beissert M, Collmann H, Darge K: The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. Pediatr Radiol 2003;33:168-172. (Pubitemid 36700918)
-
(2003)
Pediatric Radiology
, vol.33
, Issue.3
, pp. 168-172
-
-
Trusen, A.1
Beissert, M.2
Collmann, H.3
Darge, K.4
-
13
-
-
34249019470
-
Women with Saethre-Chotzen syndrome are at increased risk of breast cancer
-
DOI 10.1002/gcc.20449
-
Sahlin P, Windh P, Lauritzen C, Emanuelsson M, Grönberg H, Stenman G: Women wih Saethre-Chotzen syndrome are at increased risk of breast cancer. Genes Chromosomes Cancer 2007;46:656-660. (Pubitemid 46802332)
-
(2007)
Genes Chromosomes and Cancer
, vol.46
, Issue.7
, pp. 656-660
-
-
Sahlin, P.1
Windh, P.2
Lauritzen, C.3
Emanuelsson, M.4
Gronberg, H.5
Stenman, G.6
-
14
-
-
67449104869
-
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study
-
James PA, Culling B, Mullan G, Jenkins M, Elakis G, et al: Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study. Genes Chromosomes Cancer 2009;48:533-538.
-
(2009)
Genes Chromosomes Cancer
, vol.48
, pp. 533-538
-
-
James, P.A.1
Culling, B.2
Mullan, G.3
Jenkins, M.4
Elakis, G.5
-
15
-
-
0026672007
-
The mapping of a gene for craniosynostosis: Evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p
-
Brueton LA, Van Herwerden L, Chotai KA, Winter RM: The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 1992;29:681-685.
-
(1992)
J Med Genet
, vol.29
, pp. 681-685
-
-
Brueton, L.A.1
Van Herwerden, L.2
Chotai, K.A.3
Winter, R.M.4
-
16
-
-
34548814163
-
Four twist genes in zebrafish, four expression patterns
-
DOI 10.1002/dvdy.21267
-
Germanguz I, Lev D, Waisman T, Kim CH, Gitelman I: Four twist genes in zebrafish, four expression patterns. Dev Dyn 2007;236:2615-2626. (Pubitemid 47450950)
-
(2007)
Developmental Dynamics
, vol.236
, Issue.9
, pp. 2615-2626
-
-
Germanguz, I.1
Lev, D.2
Waisman, T.3
Kim, C.-H.4
Gitelman, I.5
-
17
-
-
2942707848
-
Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis
-
DOI 10.1016/j.cell.2004.06.006, PII S0092867404005768
-
Yang J, Mani SA, Donaher JL, Ramaswamy S, Itzykson RA, et al: Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis. Cell 2004;117:927-939. (Pubitemid 38798858)
-
(2004)
Cell
, vol.117
, Issue.7
, pp. 927-939
-
-
Yang, J.1
Mani, S.A.2
Donaher, J.L.3
Ramaswamy, S.4
Itzykson, R.A.5
Come, C.6
Savagner, P.7
Gitelman, I.8
Richardson, A.9
Weinberg, R.A.10
-
18
-
-
0037012509
-
A Twist in fate: Evolutionary comparison of Twist structure and function
-
DOI 10.1016/S0378-1119(01)00893-9, PII S0378111901008939
-
Castanon I, Baylies MK: A Twist in fate: evolutionary comparison of Twist structure and function. Gene 2002;287:11-22. (Pubitemid 34460565)
-
(2002)
Gene
, vol.287
, Issue.1-2
, pp. 11-22
-
-
Castanon, I.1
Baylies, M.K.2
-
19
-
-
30444460280
-
A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development
-
DOI 10.1002/bies.20313
-
Cai J, Jabs EW: A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development. BioEssays 2005;27:1102-1106. (Pubitemid 43076136)
-
(2005)
BioEssays
, vol.27
, Issue.11
, pp. 1102-1106
-
-
Cai, J.1
Jabs, E.W.2
-
20
-
-
12144288066
-
A twist code determines the onset of osteoblast differentiation
-
DOI 10.1016/S1534-5807(04)00058-9, PII S1534580704000589
-
Bialek P, Kern B, Yang X, Schrock M, Sosic D, et al: A twist code determines the onset of osteoblast differentiation. Dev Cell 2004;6:423-435. (Pubitemid 38364573)
-
(2004)
Developmental Cell
, vol.6
, Issue.3
, pp. 423-435
-
-
Bialek, P.1
Kern, B.2
Yang, X.3
Schrock, M.4
Sosic, D.5
Hong, N.6
Wu, H.7
Yu, K.8
Ornitz, D.M.9
Olson, E.N.10
Justice, M.J.11
Karsenty, G.12
-
21
-
-
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 A-L, Danse J-M, Bloch-Zupan A, Yoshiba K, et al: The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet 1998;7:945-949.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 945-949
-
-
Bourgeois, P.1
Bolcato-Bellemin, A.-L.2
Danse, J.-M.3
Bloch-Zupan, A.4
Yoshiba, K.5
|