PubMed

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 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders.

Splendore A, Passos-Bueno MR, Jabs EW, Van Maldergem L, Wulfsberg EA.

Am J Med Genet. 2002 Aug 15;111(3):324-7. No abstract available. PMID: 12210332 [PubMed - indexed for MEDLINE]Related articles

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.

Splendore A, Jabs EW, Passos-Bueno MR.

J Med Genet. 2002 Jul;39(7):493-5. No abstract available. PMID: 12114482 [PubMed - indexed for MEDLINE]Related articlesFree article

A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.

Emes RD, Ponting CP.

Hum Mol Genet. 2001 Nov 15;10(24):2813-20.PMID: 11734546 [PubMed - indexed for MEDLINE]Related articlesFree article

High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.

Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR.

Hum Mutat. 2000 Oct;16(4):315-22. Review.PMID: 11013442 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10982400 [PubMed - indexed for MEDLINE]Related articlesFree article

Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.

Jones NC, Farlie PG, Minichiello J, Newgreen DF.

Hum Mol Genet. 1999 Nov;8(12):2239-45.PMID: 10545604 [PubMed - indexed for MEDLINE]Related articlesFree article

The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.

Winokur ST, Shiang R.

Hum Mol Genet. 1998 Nov;7(12):1947-52.PMID: 9811939 [PubMed - indexed for MEDLINE]Related articlesFree article

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 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 9096354 [PubMed - indexed for MEDLINE]Related articlesFree article

Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.

Dixon J, Edwards SJ, Anderson I, Brass A, Scambler PJ, Dixon MJ.

Genome Res. 1997 Mar;7(3):223-34.PMID: 9074926 [PubMed - indexed for MEDLINE]Related articlesFree article

The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Edwards SJ, Gladwin AJ, Dixon MJ.

Am J Hum Genet. 1997 Mar;60(3):515-24.PMID: 9042910 [PubMed - indexed for MEDLINE]Related articlesFree article

Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.

Dixon MJ, Dixon J, Houseal T, Bhatt M, Ward DC, Klinger K, Landes GM.

Am J Hum Genet. 1993 May;52(5):907-14.PMID: 8488840 [PubMed - indexed for MEDLINE]Related articlesFree article

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.

Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL.

Genomics. 1991 Sep;11(1):193-8.PMID: 1765376 [PubMed - indexed for MEDLINE]Related articles

Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2.

Dixon MJ, Dixon J, Raskova D, Le Beau MM, Williamson R, Klinger K, Landes GM.

Hum Mol Genet. 1992 Jul;1(4):249-53.PMID: 1303194 [PubMed - indexed for MEDLINE]Related articles