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Items: 1 to 20 of 111

1.

Treacher Collins syndrome: etiology, pathogenesis and prevention.

Trainor PA, Dixon J, Dixon MJ.

Eur J Hum Genet. 2009 Mar;17(3):275-83. doi: 10.1038/ejhg.2008.221. Epub 2008 Dec 24.

2.

Treacher Collins syndrome: unmasking the role of Tcof1/treacle.

Sakai D, Trainor PA.

Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi: 10.1016/j.biocel.2008.10.026. Epub 2008 Nov 5. Review.

3.

Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis.

Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y.

Am J Med Genet A. 2005 May 1;134(4):363-7.

PMID:
15759264
4.

Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.

Dixon J, Brakebusch C, Fässler R, Dixon MJ.

Hum Mol Genet. 2000 Jun 12;9(10):1473-80.

5.

Craniofacial birth defects: The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention.

Trainor PA.

Am J Med Genet A. 2010 Dec;152A(12):2984-94. doi: 10.1002/ajmg.a.33454. Epub 2010 Aug 23. Review.

6.

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP, Glynn EF, Ellington L, Du C, Dixon J, Dixon MJ, Trainor PA.

Nat Med. 2008 Feb;14(2):125-33. doi: 10.1038/nm1725. Epub 2008 Feb 3.

7.

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.

Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, Jabs EW.

Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3110-5.

8.

Treacher Collins Syndrome: the genetics of a craniofacial disease.

Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y.

Int J Pediatr Otorhinolaryngol. 2014 Jun;78(6):893-8. doi: 10.1016/j.ijporl.2014.03.006. Epub 2014 Mar 13. Review.

PMID:
24690222
9.

The hutterite variant of Treacher Collins syndrome: a 28-year-old story solved.

Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM.

Am J Med Genet A. 2013 Nov;161A(11):2855-9. doi: 10.1002/ajmg.a.36172. Epub 2013 Sep 24.

PMID:
24108658
10.
11.

Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.

Su PH, Chen JY, Chen SJ, Yu JS.

J Formos Med Assoc. 2006 Jun;105(6):518-21.

12.

Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G.

BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125.

13.

Clinical features, treatment and genetic background of Treacher Collins syndrome.

Marszałek B, Wójcicki P, Kobus K, Trzeciak WH.

J Appl Genet. 2002;43(2):223-33. Review.

PMID:
12080178
14.

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.

So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC.

Gene. 2004 Mar 17;328:49-57.

PMID:
15019983
15.

Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D.

Eur J Hum Genet. 2014 Jan;22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22.

16.

Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.

Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT.

Mol Biol Cell. 2000 Sep;11(9):3061-71.

17.

Treacher Collins syndrome.

Dixon J, Trainor P, Dixon MJ.

Orthod Craniofac Res. 2007 May;10(2):88-95. Review.

PMID:
17552945
18.

Fishing the molecular bases of Treacher Collins syndrome.

Weiner AM, Scampoli NL, Calcaterra NB.

PLoS One. 2012;7(1):e29574. doi: 10.1371/journal.pone.0029574. Epub 2012 Jan 25.

19.

Novel insertion in exon 5 of the TCOF1 gene in twin sisters with Treacher Collins syndrome.

Marszałek-Kruk BA, Wójcicki P, Smigiel R, Trzeciak WH.

J Appl Genet. 2012 Aug;53(3):279-82. doi: 10.1007/s13353-012-0091-3. Epub 2012 Mar 14. Erratum in: J Appl Genet. 2012 Aug;53(3):283.

20.

A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Zhang X, Fan Y, Zhang Y, Xue H, Chen X.

Int J Pediatr Otorhinolaryngol. 2013 Sep;77(9):1410-5. doi: 10.1016/j.ijporl.2013.05.013. Epub 2013 Jul 6.

PMID:
23838542
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