-
2
-
-
0000450953
-
Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of malar bones
-
Treacher Collins E. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of malar bones. Trans Ophthalmol Soc U K 1900;20:190
-
(1900)
Trans Ophthalmol Soc U K
, vol.20
, pp. 190
-
-
Treacher Collins, E.1
-
3
-
-
85026172652
-
-
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. Oxford, England: Oxford University Press, 1990
-
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. Oxford, England: Oxford University Press, 1990
-
-
-
-
4
-
-
0033761826
-
Late presentation of upper airway obstruction in Pierre Robin sequence
-
Wilson AC, Moore DJ, Moore MH, et al. Late presentation of upper airway obstruction in Pierre Robin sequence. Arch Dis Child 2000;83:435-438
-
(2000)
Arch Dis Child
, vol.83
, pp. 435-438
-
-
Wilson, A.C.1
Moore, D.J.2
Moore, M.H.3
-
5
-
-
8144222423
-
Delayed-onset infantile cataracts in a case of Treacher Collins syndrome
-
Biebesheimer JB, Fredrick DR. Delayed-onset infantile cataracts in a case of Treacher Collins syndrome. Arch Ophthalmol 2004;122:1721-1722
-
(2004)
Arch Ophthalmol
, vol.122
, pp. 1721-1722
-
-
Biebesheimer, J.B.1
Fredrick, D.R.2
-
7
-
-
0028085021
-
Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome
-
Moore MH, Guzman-Stein G, Proudman TW, et al. Mandibular lengthening by distraction for airway obstruction in Treacher-Collins syndrome. J Craniofac Surg 1994;5:22-25
-
(1994)
J Craniofac Surg
, vol.5
, pp. 22-25
-
-
Moore, M.H.1
Guzman-Stein, G.2
Proudman, T.W.3
-
8
-
-
0024339725
-
Treacher Collins syndrome: present concepts of the disorder and their surgical correction
-
Argenta LC, Iacobucci JJ. Treacher Collins syndrome: present concepts of the disorder and their surgical correction. World J Surg 1989;13:401-409
-
(1989)
World J Surg
, vol.13
, pp. 401-409
-
-
Argenta, L.C.1
Iacobucci, J.J.2
-
9
-
-
0030952587
-
Treacher Collins syndrome: perspectives in evaluation and treatment
-
Posnick JC. Treacher Collins syndrome: perspectives in evaluation and treatment. J Oral Maxillofac Surg 1997;55:1120-1133
-
(1997)
J Oral Maxillofac Surg
, vol.55
, pp. 1120-1133
-
-
Posnick, J.C.1
-
10
-
-
22644435974
-
Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformity
-
Takegoshi H, Kaga K, Chihara Y. Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformity. Otol Neurotol 2005;26:803-808
-
(2005)
Otol Neurotol
, vol.26
, pp. 803-808
-
-
Takegoshi, H.1
Kaga, K.2
Chihara, Y.3
-
11
-
-
0031038030
-
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon
-
Edwards SJ, Gladwin AJ, Dixon MJ. The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. Am J Hum Genet 1997;60:515-524
-
(1997)
Am J Hum Genet
, vol.60
, pp. 515-524
-
-
Edwards, S.J.1
Gladwin, A.J.2
Dixon, M.J.3
-
12
-
-
0033800213
-
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
-
Splendore A, Silva EO, Alonso LG, et al. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat 2000;16:315-322
-
(2000)
Hum Mutat
, vol.16
, pp. 315-322
-
-
Splendore, A.1
Silva, E.O.2
Alonso, L.G.3
-
13
-
-
0036077010
-
Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle
-
Splendore A, Jabs EW, Passos-Bueno MR. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle. J Med Genet 2002;39:493-495
-
(2002)
J Med Genet
, vol.39
, pp. 493-495
-
-
Splendore, A.1
Jabs, E.W.2
Passos-Bueno, M.R.3
-
14
-
-
7744244944
-
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
-
Teber OA, Gillessen-Kaesbach G, Fischer S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet 2004;12:879-890
-
(2004)
Eur J Hum Genet
, vol.12
, pp. 879-890
-
-
Teber, O.A.1
Gillessen-Kaesbach, G.2
Fischer, S.3
-
15
-
-
0030070052
-
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group
-
The Treacher Collins Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet 1996;12:130-136
-
(1996)
Nat Genet
, vol.12
, pp. 130-136
-
-
-
16
-
-
0037101865
-
TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders
-
Splendore A, Passos-Bueno MR, Jabs EW, et al. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. Am J Med Genet 2002;111:324-327
-
(2002)
Am J Med Genet
, vol.111
, pp. 324-327
-
-
Splendore, A.1
Passos-Bueno, M.R.2
Jabs, E.W.3
-
17
-
-
0033771881
-
Treacher Collins syndrome: current evaluation, treatment, and future directions
-
Posnick JC, Ruiz RL. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac J 2000;37:434
-
(2000)
Cleft Palate Craniofac J
, vol.37
, pp. 434
-
-
Posnick, J.C.1
Ruiz, R.L.2
-
18
-
-
0021137320
-
The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome
-
van der Meulen JC, Hauben DJ, Vaandrager JM, et al. The use of a temporal osteoperiosteal flap for the reconstruction of malar hypoplasia in Treacher Collins syndrome. Plast Reconstr Surg 1984;74:687-693
-
(1984)
Plast Reconstr Surg
, vol.74
, pp. 687-693
-
-
van der Meulen, J.C.1
Hauben, D.J.2
Vaandrager, J.M.3
-
19
-
-
0022884723
-
Results of the Tessier integral procedure for correction of Treacher Collins syndrome
-
Tulasne JF, Tessier PL. Results of the Tessier integral procedure for correction of Treacher Collins syndrome. Cleft Palate J 1986;1:40-49
-
(1986)
Cleft Palate J
, vol.1
, pp. 40-49
-
-
Tulasne, J.F.1
Tessier, P.L.2
-
20
-
-
85026164631
-
-
David DJ. Treacher collins syndrome. In: Muir IFK, ed. Current Operative Surgery: Plastic and Reconstructive Surgery. London, UK: Bailliere Tindall, 1985
-
David DJ. Treacher collins syndrome. In: Muir IFK, ed. Current Operative Surgery: Plastic and Reconstructive Surgery. London, UK: Bailliere Tindall, 1985
-
-
-
-
21
-
-
85026159834
-
-
Carroll P. Teasing and victimization? It's rarely simple! In: David DJ, ed. Craniofacial II: Proceedings of the Eleventh International Congress of The International Society of Craniofacial Surgery. Bologna, Italy: Medimond S.r.l., 2006:394-397
-
Carroll P. Teasing and victimization? It's rarely simple! In: David DJ, ed. Craniofacial II: Proceedings of the Eleventh International Congress of The International Society of Craniofacial Surgery. Bologna, Italy: Medimond S.r.l., 2006:394-397
-
-
-
-
22
-
-
3242738469
-
Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study
-
Beaune L, Forrest CR, Keith T. Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study. Cleft Palate Craniofac J 2004;41:343-350
-
(2004)
Cleft Palate Craniofac J
, vol.41
, pp. 343-350
-
-
Beaune, L.1
Forrest, C.R.2
Keith, T.3
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