PMC Links for Nucleotide (Select 1677499925) - PMC

Select item 50237641.

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

Select item 17125032.

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

Summary Page Browse PDF–1.9M

Select item 16820533.

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

Summary Page Browse PDF–1.8M

Select item 4899994.

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

Abstract Article PDF–506K

Select item 57221755.

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies

Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek

Am J Ophthalmol Case Rep. 2017 Sep; 7: 102–106. Published online 2017 Jun 21. doi: 10.1016/j.ajoc.2017.06.006

PMCID:: PMC5722175

Abstract Article PDF–458K

Select item 18037726.

A dynamic model of gene expression in monocytes reveals differences in immediate/early response genes between adult and neonatal cells

Shelley Lawrence, Yuhong Tang, M Barton Frank, Igor Dozmorov, Kaiyu Jiang, Yanmin Chen, Craig Cadwell, Sean Turner, Michael Centola, James N Jarvis

J Inflamm (Lond) 2007; 4: 4. Published online 2007 Feb 16. doi: 10.1186/1476-9255-4-4

PMCID:: PMC1803772

Abstract Article PDF–1.7M

Select item 14136507.

Transposable elements have contributed to thousands of human proteins

Roy Britten

Proc Natl Acad Sci U S A. 2006 Feb 7; 103(6): 1798–1803. Published online 2006 Jan 27. doi: 10.1073/pnas.0510007103

PMCID:: PMC1413650

Abstract Article PDF–266K

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