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    Results: 1 to 20 of 196

    1.

    Macular degeneration associated with a novel Treacher Collins tcof1 mutation and evaluation of this mutation in age related macular degeneration.

    Goverdhan SV, Temple IK, Self J, Lotery AJ, Dixon MJ, Evans AR.

    Br J Ophthalmol. 2005 Aug;89(8):1063-4. No abstract available. PMID: 16024866 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.

    Marszalek B, Wisniewski SA, Wojcicki P, Kobus K, Trzeciak WH.

    Am J Med Genet A. 2003 Dec 1;123A(2):169-71.PMID: 14598341 [PubMed - indexed for MEDLINE]Related articles

    3.

    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

    4.

    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.PMID: 16801042 [PubMed - indexed for MEDLINE]Related articlesFree article

    5.

    A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.

    Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR.

    Am J Med Genet A. 2009 Aug;149A(8):1624-7.PMID: 19572402 [PubMed - indexed for MEDLINE]Related articles

    6.

    Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.

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

    Am J Med Genet A. 2004 Jul 15;128A(2):173-5.PMID: 15214011 [PubMed - indexed for MEDLINE]Related articles

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

    8.

    Treacher Collins syndrome.

    Marsh KL, Dixon MJ.

    Adv Otorhinolaryngol. 2000;56:53-9. Review. No abstract available. PMID: 10868214 [PubMed - indexed for MEDLINE]Related articles

    9.

    [Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome]

    Horiuchi K.

    Hokkaido Igaku Zasshi. 2003 Sep;78(5):419-28. Japanese. No abstract available. PMID: 14531285 [PubMed - indexed for MEDLINE]Related articles

    10.

    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 [PubMed - indexed for MEDLINE]Related articles

    11.

    Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome.

    Su PH, Yu JS, Chen JY, Chen SJ, Li SY, Chen HN.

    Clin Dysmorphol. 2007 Oct;16(4):261-7.PMID: 17786119 [PubMed - indexed for MEDLINE]Related articles

    12.

    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 [PubMed - indexed for MEDLINE]Related articles

    13.

    Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease.

    Shows KH, Ward C, Summers L, Li L, Ziegler GR, Hendrickx AG, Shiang R.

    Mamm Genome. 2006 Feb;17(2):168-77. Epub 2006 Feb 7.PMID: 16465596 [PubMed - indexed for MEDLINE]Related articles

    14.

    Treacher Collins syndrome: from linkage to prenatal testing.

    Dixon MJ.

    J Laryngol Otol. 1998 Aug;112(8):705-9. Review. No abstract available. PMID: 9850311 [PubMed - indexed for MEDLINE]Related articles

    15.

    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 [PubMed - indexed for MEDLINE]Related articlesFree article

    16.

    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

    17.

    Mutation testing in Treacher Collins Syndrome.

    Ellis PE, Dawson M, Dixon MJ.

    J Orthod. 2002 Dec;29(4):293-7; discussion 278.PMID: 12444270 [PubMed - indexed for MEDLINE]Related articlesFree article

    18.

    Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.

    Fujioka H, Ariga T, Horiuchi K, Ishikiriyama S, Oyama K, Otsu M, Kawashima K, Yamamoto Y, Sugihara T, Sakiyama Y.

    Pediatr Int. 2008 Dec;50(6):806-9.PMID: 19067896 [PubMed - indexed for MEDLINE]Related articles

    19.

    Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

    Hedera P, Toriello HV, Petty EM.

    J Med Genet. 2002 Jul;39(7):484-8.PMID: 12114479 [PubMed - indexed for MEDLINE]Related articlesFree article

    20.

    Parental origin of mutations in sporadic cases of Treacher Collins syndrome.

    Splendore A, Jabs EW, Félix TM, Passos-Bueno MR.

    Eur J Hum Genet. 2003 Sep;11(9):718-22.PMID: 12939661 [PubMed - indexed for MEDLINE]Related articlesFree article

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