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Items: 4

1.
Mutational Analysis of TCOF1, GSC, and HOXA2 in Patients With Treacher Collins Syndrome
Shaojuan Hao, Lei Jin, Huijun Wang, Chenlong Li, Fengyun Zheng, Duan Ma, Tianyu Zhang
J Craniofac Surg. 2016 Sep; 27(6): e583–e586. Published online 2016 Aug 12. doi: 10.1097/SCS.0000000000002934
PMCID:
PMC5023764
AbstractArticlePDF–281K
2.
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
S J Edwards, A J Gladwin, M J Dixon
Am J Hum Genet. 1997 Mar; 60(3): 515–524.
PMCID:
PMC1712503
SummaryPage BrowsePDF–1.9M
3.
Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
M J Dixon, J Dixon, T Houseal, M Bhatt, D C Ward, K Klinger, G M Landes
Am J Hum Genet. 1993 May; 52(5): 907–914.
PMCID:
PMC1682053
SummaryPage BrowsePDF–1.8M
4.
The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
Benigno C. Valdez, Dale Henning, Rolando B. So, Jill Dixon, Michael J. Dixon
Proc Natl Acad Sci U S A. 2004 Jul 20; 101(29): 10709–10714. Published online 2004 Jul 12. doi: 10.1073/pnas.0402492101
PMCID:
PMC489999
AbstractArticlePDF–506K

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