-
1
-
-
0014071819
-
Mandibulo-facial dysostosis (Treacher-Collins syndrome)
-
L.E. Frazen, J. Elmore, and H.L. Nadler Mandibulo-facial dysostosis (Treacher-Collins syndrome) Am J Dis Child 113 1967 405 410
-
(1967)
Am J Dis Child
, vol.113
, pp. 405-410
-
-
Frazen, L.E.1
Elmore, J.2
Nadler, H.L.3
-
2
-
-
33846559754
-
New grading system for patients with Treacher Collins syndrome
-
T. Hayashi, S. Sasaki, and A. Oyama New grading system for patients with Treacher Collins syndrome J Craniofac Surg 18 2007 113 119
-
(2007)
J Craniofac Surg
, vol.18
, pp. 113-119
-
-
Hayashi, T.1
Sasaki, S.2
Oyama, A.3
-
3
-
-
0030070052
-
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
-
Treacher Collins Syndrome Collaborative Group
-
Treacher Collins Syndrome Collaborative Group Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome Nat Genet 12 1996 130 136
-
(1996)
Nat Genet
, vol.12
, pp. 130-136
-
-
-
4
-
-
60349114320
-
Treacher Collins syndrome: Unmasking the role of Tcof1/treacle
-
D. Sakai, and P.A. Trainor Treacher Collins syndrome: unmasking the role of Tcof1/treacle Int J Biochem Cell Biol 41 2008 1229 1232
-
(2008)
Int J Biochem Cell Biol
, vol.41
, pp. 1229-1232
-
-
Sakai, D.1
Trainor, P.A.2
-
5
-
-
38949170601
-
Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function
-
N.C. Jones, M.L. Lynn, and K. Gaudenz Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function Nat Med 14 2008 125 133
-
(2008)
Nat Med
, vol.14
, pp. 125-133
-
-
Jones, N.C.1
Lynn, M.L.2
Gaudenz, K.3
-
7
-
-
60749102064
-
Treacher Collins syndrome: Etiology, pathogenesis and prevention
-
P.A. Trainor, J. Dixon, and M.J. Dixon Treacher Collins syndrome: etiology, pathogenesis and prevention Eur J Hum Genet 17 2009 275 283
-
(2009)
Eur J Hum Genet
, vol.17
, pp. 275-283
-
-
Trainor, P.A.1
Dixon, J.2
Dixon, M.J.3
-
8
-
-
33646384644
-
Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome
-
G. da Silva Dalben, B. Costa, and M.R. Gomide Prevalence of dental anomalies, ectopic eruption and associated oral malformations in subjects with Treacher Collins syndrome Oral Surg Oral Med Oral Pathol Oral Radiol Endod 101 2006 588 592
-
(2006)
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
, vol.101
, pp. 588-592
-
-
Da Silva Dalben, G.1
Costa, B.2
Gomide, M.R.3
-
9
-
-
33748614339
-
Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities
-
J. Dixon, N.C. Jones, and L.L. Sandell Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities Proc Natl Acad Sci U S A 103 2006 13403 13408
-
(2006)
Proc Natl Acad Sci U S A
, vol.103
, pp. 13403-13408
-
-
Dixon, J.1
Jones, N.C.2
Sandell, L.L.3
-
10
-
-
0034494767
-
Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome
-
C. Isaac, K.L. Marsh, and W.A. Paznekas Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome Mol Biol Cell 11 2000 3061 3071
-
(2000)
Mol Biol Cell
, vol.11
, pp. 3061-3071
-
-
Isaac, C.1
Marsh, K.L.2
Paznekas, W.A.3
-
11
-
-
3242671307
-
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
-
B.C. Valdez, D. Henning, R.B. So, J. Dixon, and M.J. Dixon The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor Proc Natl Acad Sci U S A 101 2004 10709 10714
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 10709-10714
-
-
Valdez, B.C.1
Henning, D.2
So, R.B.3
Dixon, J.4
Dixon, M.J.5
-
12
-
-
56649117454
-
Wild-type p53 in cancer cells: When a guardian turns into a blackguard
-
E. Kim, A. Giese, and W. Deppert Wild-type p53 in cancer cells: when a guardian turns into a blackguard Biochem Pharm 77 2009 11 20
-
(2009)
Biochem Pharm
, vol.77
, pp. 11-20
-
-
Kim, E.1
Giese, A.2
Deppert, W.3
-
13
-
-
0028953433
-
Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome
-
T. Frebourg, N. Barbier, and Y. Yan Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome Am J Hum Genet 56 1995 608 615
-
(1995)
Am J Hum Genet
, vol.56
, pp. 608-615
-
-
Frebourg, T.1
Barbier, N.2
Yan, Y.3
-
14
-
-
0027513412
-
Ear malformation and hearing loss in patients with Treacher Collins syndrome
-
G. Pron, C. Galloway, D. Armstrong, and J. Posnick Ear malformation and hearing loss in patients with Treacher Collins syndrome Cleft Palate Craniofac J 30 1993 97 103
-
(1993)
Cleft Palate Craniofac J
, vol.30
, pp. 97-103
-
-
Pron, G.1
Galloway, C.2
Armstrong, D.3
Posnick, J.4
-
15
-
-
77952298971
-
Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse
-
C.A. Richter, S. Amin, J. Linden, J. Dixon, M.J. Dixon, and A.S. Tucker Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse Hum Mol Genet 19 2010 1551 1560
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1551-1560
-
-
Richter, C.A.1
Amin, S.2
Linden, J.3
Dixon, J.4
Dixon, M.J.5
Tucker, A.S.6
-
16
-
-
77449146689
-
Treacher Collins syndrome: Protocol management from birth to maturity
-
J.T. Thompson, P.J. Anderson, and D.J. David Treacher Collins syndrome: protocol management from birth to maturity J Craniofac Surg 20 2009 2028 2035
-
(2009)
J Craniofac Surg
, vol.20
, pp. 2028-2035
-
-
Thompson, J.T.1
Anderson, P.J.2
David, D.J.3
-
17
-
-
0016728179
-
The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis)
-
D. Poswillo The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis) Br J Oral Surg 13 1975 1 26
-
(1975)
Br J Oral Surg
, vol.13
, pp. 1-26
-
-
Poswillo, D.1
|