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Items: 1 to 20 of 88

1.

Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.

Richter CA, Amin S, Linden J, Dixon J, Dixon MJ, Tucker AS.

Hum Mol Genet. 2010 Apr 15;19(8):1551-60. doi: 10.1093/hmg/ddq028. Epub 2010 Jan 27.

PMID:
20106873
2.

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.

PMID:
10888597
3.

Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.

Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ.

Am J Med Genet A. 2004 Jun 15;127A(3):244-8.

PMID:
15150774
4.

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.

Marsh KL, Dixon J, Dixon MJ.

Hum Mol Genet. 1998 Oct;7(11):1795-800.

PMID:
9736782
5.

Mouse models to study inner ear development and hereditary hearing loss.

Friedman LM, Dror AA, Avraham KB.

Int J Dev Biol. 2007;51(6-7):609-31. Review.

6.

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.

Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA.

Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13403-8. Epub 2006 Aug 28.

7.

The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.

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

Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10709-14. Epub 2004 Jul 12.

8.

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
10.

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
11.
12.

Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR.

BMC Med Genet. 2009 Dec 14;10:136. doi: 10.1186/1471-2350-10-136.

13.

Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Bowman M, Oldridge M, Archer C, O'Rourke A, McParland J, Brekelmans R, Seller A, Lester T.

Eur J Hum Genet. 2012 Jul;20(7):769-77. doi: 10.1038/ejhg.2012.2. Epub 2012 Feb 8.

15.

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.

Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC, Passos-Bueno MR.

Gene. 2005 Oct 10;359:44-52.

PMID:
16102917
16.

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
17.

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.

18.

Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome.

Shoo BA, McPherson E, Jabs EW.

Am J Med Genet A. 2004 Apr 1;126A(1):84-8.

PMID:
15039977
19.

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.

20.

Mouse models for deafness: lessons for the human inner ear and hearing loss.

Avraham KB.

Ear Hear. 2003 Aug;24(4):332-41. Review.

PMID:
12923424

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