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279 related items for PubMed ID: 19107148

  • 1. Treacher Collins syndrome: etiology, pathogenesis and prevention.
    Trainor PA, Dixon J, Dixon MJ.
    Eur J Hum Genet; 2009 Mar; 17(3):275-83. PubMed ID: 19107148
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 19027870
    [Abstract] [Full Text] [Related]

  • 3. Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes.
    de Peralta MS, Mouguelar VS, Sdrigotti MA, Ishiy FA, Fanganiello RD, Passos-Bueno MR, Coux G, Calcaterra NB.
    Cell Death Dis; 2016 Oct 06; 7(10):e2397. PubMed ID: 27711076
    [Abstract] [Full Text] [Related]

  • 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. PubMed ID: 10888597
    [Abstract] [Full Text] [Related]

  • 5. Treacher Collins Syndrome: Genetics, Clinical Features and Management.
    Marszałek-Kruk BA, Wójcicki P, Dowgierd K, Śmigiel R.
    Genes (Basel); 2021 Sep 09; 12(9):. PubMed ID: 34573374
    [Abstract] [Full Text] [Related]

  • 6. 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 01; 134(4):363-7. PubMed ID: 15759264
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 152A(12):2984-94. PubMed ID: 20734335
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 14(2):125-33. PubMed ID: 18246078
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 78(6):893-8. PubMed ID: 24690222
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 94(7):3110-5. PubMed ID: 9096354
    [Abstract] [Full Text] [Related]

  • 11. Prevention of Treacher Collins syndrome craniofacial anomalies in mouse models via maternal antioxidant supplementation.
    Sakai D, Dixon J, Achilleos A, Dixon M, Trainor PA.
    Nat Commun; 2016 Jan 21; 7():10328. PubMed ID: 26792133
    [Abstract] [Full Text] [Related]

  • 12. 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 21; 22(1):52-6. PubMed ID: 23695276
    [Abstract] [Full Text] [Related]

  • 13. 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 21; 7(11):1795-800. PubMed ID: 9736782
    [Abstract] [Full Text] [Related]

  • 14. 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 21; 105(6):518-21. PubMed ID: 16801042
    [Abstract] [Full Text] [Related]

  • 15. Treacher Collins syndrome.
    Dixon J, Trainor P, Dixon MJ.
    Orthod Craniofac Res; 2007 May 21; 10(2):88-95. PubMed ID: 17552945
    [Abstract] [Full Text] [Related]

  • 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 21; 11(9):3061-71. PubMed ID: 10982400
    [Abstract] [Full Text] [Related]

  • 17. 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 21; 161A(11):2855-9. PubMed ID: 24108658
    [Abstract] [Full Text] [Related]

  • 18. Use of adipose derived stem cells in Treacher Collins syndrome.
    Costa AL, Zanolla I, Zanotti F, Trentini M, Tiengo E, Greco Lucchina A, Mortellaro C, Giacomello M, Zavan B.
    Eur Rev Med Pharmacol Sci; 2023 Apr 21; 27(3 Suppl):1-10. PubMed ID: 37129330
    [Abstract] [Full Text] [Related]

  • 19. Clinical features, treatment and genetic background of Treacher Collins syndrome.
    Marszałek B, Wójcicki P, Kobus K, Trzeciak WH.
    J Appl Genet; 2002 Apr 21; 43(2):223-33. PubMed ID: 12080178
    [Abstract] [Full Text] [Related]

  • 20. Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.
    Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, Sun S, Hao SJ, Jin L, Chai G, Zhang TY.
    Mol Genet Genomics; 2018 Apr 21; 293(2):569-577. PubMed ID: 29230583
    [Abstract] [Full Text] [Related]

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