-
1
-
-
0019422714
-
Treatment of coronal and metopic synostosis: 107 cases
-
Anderson FM. 1981. Treatment of coronal and metopic synostosis: 107 cases. Neurosurgery 2:143-149.
-
(1981)
Neurosurgery
, vol.2
, pp. 143-149
-
-
Anderson, F.M.1
-
2
-
-
79955469068
-
Microdeletions of chromosome 7p21, including TWST1, associated with significant microcephaly, facial dysmorphism, and short stature
-
Busche A, Graul-Neumann LM, Zweier C, et al. 2011. Microdeletions of chromosome 7p21, including TWST1, associated with significant microcephaly, facial dysmorphism, and short stature. Eur J Med Genet 54:256-261.
-
(2011)
Eur J Med Genet
, vol.54
, pp. 256-261
-
-
Busche, A.1
Graul-Neumann, L.M.2
Zweier, C.3
-
4
-
-
84866064933
-
Anterior fronto-orbital remodeling for trigonocephay
-
Di Rocco F, Arnaud E, Marchac D. 2012. Anterior fronto-orbital remodeling for trigonocephay. Childs Nerv Syst 28:1369-1373.
-
(2012)
Childs Nerv Syst
, vol.28
, pp. 1369-1373
-
-
Di Rocco, F.1
Arnaud, E.2
Marchac, D.3
-
5
-
-
0036569364
-
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation
-
Dollfus H, Biswas P, Kumaramanickavel G. 2002. Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. Am J Med Genet 109:218-225.
-
(2002)
Am J Med Genet
, vol.109
, pp. 218-225
-
-
Dollfus, H.1
Biswas, P.2
Kumaramanickavel, G.3
-
6
-
-
0031012353
-
Mutations of the TWIST gene in the Saethre-Chotzen syndrome
-
El Ghouzzi V, Le Merrer M, Perrin-Schmitt F. 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
-
7
-
-
0035831060
-
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome
-
El Ghouzzi V, Legeai-Mallet L, Benoist-Lasselin C, et al. 2001. Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome. FEBS Lett 492:112-118.
-
(2001)
FEBS Lett
, vol.492
, pp. 112-118
-
-
El Ghouzzi, V.1
Legeai-Mallet, L.2
Benoist-Lasselin, C.3
-
8
-
-
0032953019
-
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome
-
El Ghouzzi V, Lajeunie E, Le Merrer M. 1999. Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet 7:27-33.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 27-33
-
-
El Ghouzzi, V.1
Lajeunie, E.2
Le Merrer, M.3
-
9
-
-
74049145317
-
The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome
-
Foo R, Guo Y, McDonald-McGinn DM. 2009. The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. Plast Reconstr Surg 124:2085-2095.
-
(2009)
Plast Reconstr Surg
, vol.124
, pp. 2085-2095
-
-
Foo, R.1
Guo, Y.2
McDonald-McGinn, D.M.3
-
10
-
-
0031021336
-
Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
-
Howard TD, Paznekas WA, Green ED. 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
-
11
-
-
0017257702
-
Trigonocephaly and associated minor anomalies in mother and son
-
Hunter AG, Rudd NL, Hoffmann HJ. 1976. Trigonocephaly and associated minor anomalies in mother and son. J Med Genet 13: 77-79.
-
(1976)
J Med Genet
, vol.13
, pp. 77-79
-
-
Hunter, A.G.1
Rudd, N.L.2
Hoffmann, H.J.3
-
12
-
-
0032231374
-
A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21
-
Johnson D, Horsley SW, Moloney DM, et al. 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 63:1282-1293.
-
(1998)
1. Am J Hum Genet
, vol.63
, pp. 1282-1293
-
-
Johnson, D.1
Horsley, S.W.2
Moloney, D.M.3
-
13
-
-
84870048712
-
Saethre-Chotzen syndrome: clinical and molecular genetic aspects
-
In: Muenke M, Kress W, Collmann H, Solomon BD, editors., Basel: Karger
-
Kress W, Collmann H. 2011. Saethre-Chotzen syndrome: clinical and molecular genetic aspects. In: Muenke M, Kress W, Collmann H, Solomon BD, editors. Craniosynostoses: molecular genetics, principles of diagnosis, and treatment. Basel: Karger. pp. 98-106.
-
(2011)
Craniosynostoses: molecular genetics, principles of diagnosis, and treatment
, pp. 98-106
-
-
Kress, W.1
Collmann, H.2
-
14
-
-
84866096869
-
Posterior cranial vault expansion in the treatment of craniosynostosis Comparison of current techniques
-
Nowinski D, Di Rocco F, Renier D, et al. 2012. Posterior cranial vault expansion in the treatment of craniosynostosis. Comparison of current techniques. Childs Nerv Syst 28:1537-1544.
-
(2012)
Childs Nerv Syst
, vol.28
, pp. 1537-1544
-
-
Nowinski, D.1
Di Rocco, F.2
Renier, D.3
-
15
-
-
17344363396
-
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations
-
Paznekas WA, Cunningham ML, Howard TD, et al. 1998. Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. Am J Hum Genet 62:1370-1380.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1370-1380
-
-
Paznekas, W.A.1
Cunningham, M.L.2
Howard, T.D.3
-
16
-
-
84897067989
-
Combined metopic and unilateral coronal synostoses: a phenotypic conundrum
-
Sauerhammer TM, Patel K, Oh AK, et al. 2014. Combined metopic and unilateral coronal synostoses: a phenotypic conundrum. J Craniofac Surg 25:437-440.
-
(2014)
J Craniofac Surg
, vol.25
, pp. 437-440
-
-
Sauerhammer, T.M.1
Patel, K.2
Oh, A.K.3
-
17
-
-
40649087094
-
TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7
-
Schluth-Bolard C, Till M, Labalme A, et al. 2008. TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7. Eur J Med Genet 51:156-164.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 156-164
-
-
Schluth-Bolard, C.1
Till, M.2
Labalme, A.3
-
18
-
-
0034921230
-
Nato3 is an evolutionarily conserved bHLH transcription factor expressed in the CNS of Drosophila and mouse
-
Segev E, Halachmi N, Salzberg A, Ben-Arie N. 2001. Nato3 is an evolutionarily conserved bHLH transcription factor expressed in the CNS of Drosophila and mouse. Mech Dev 106:197-202.
-
(2001)
Mech Dev
, vol.106
, pp. 197-202
-
-
Segev, E.1
Halachmi, N.2
Salzberg, A.3
Ben-Arie, N.4
-
19
-
-
84870721555
-
Familial nonsyndromic craniosynostosis with specific deformity of the cranium
-
Shimizu A, Komuro Y, Miyajima M, Arai H. 2012. Familial nonsyndromic craniosynostosis with specific deformity of the cranium. J Neurosurg Pediatr 10:560-564.
-
(2012)
J Neurosurg Pediatr
, vol.10
, pp. 560-564
-
-
Shimizu, A.1
Komuro, Y.2
Miyajima, M.3
Arai, H.4
-
20
-
-
0036385790
-
N-twist, an evolutionarily conserved bHLH protein expressed in the developing CNS, functions as a transcriptional inhibitor
-
Verzi MP, Anderson JP, Dodou E, et al. 2002. N-twist, an evolutionarily conserved bHLH protein expressed in the developing CNS, functions as a transcriptional inhibitor. Dev Biol 249: 174-190.
-
(2002)
Dev Biol
, vol.249
, pp. 174-190
-
-
Verzi, M.P.1
Anderson, J.P.2
Dodou, E.3
-
21
-
-
84862656610
-
Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7
-
Zechi-Ceide RM, Rodrigues MG, Jehee FS, et al. 2012. Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7. Am J Med Genet A 158A:1680- 1685.
-
(2012)
Am J Med Genet A
, vol.158A
, pp. 1680-1685
-
-
Zechi-Ceide, R.M.1
Rodrigues, M.G.2
Jehee, F.S.3
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