PMC Links for Nucleotide (Select 1677500227) - PMC - NCBI

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Items: 5

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

Abstract Article PDF–281K

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 57257015.

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva‐Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie‐Louise Bondeson

Prenat Diagn. 2017 Nov; 37(11): 1146–1154. Published online 2017 Oct 17. doi: 10.1002/pd.5156

PMCID:: PMC5725701

Abstract Article PDF–545K

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