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Journal Abstract Search

130 related items for PubMed ID: 19050407

  • 1. Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.
    Li C, Mernagh J, Bourgeois J.
    Clin Dysmorphol; 2009 Jan; 18(1):63-66. PubMed ID: 19050407
    [No Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 23695276
    [Abstract] [Full Text] [Related]

  • 3. Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome.
    Zhuang DY, Sun SN, Hu ZJ, Xie M, Zhang YX, Yan LL, Pan JW, Li HB.
    Mol Genet Genomic Med; 2024 Mar; 12(3):e2405. PubMed ID: 38444283
    [Abstract] [Full Text] [Related]

  • 4. Mutation analysis of TCOF1 gene in Chinese Treacher Collins syndrome patients.
    Zhang C, An L, Xue H, Hao S, Yan Y, Zhang Q, Jin X, Li Q, Zhou B, Feng X, Ma P, Wang X, Chen X, Chen C, Cao Z, Ma X.
    J Clin Lab Anal; 2021 Jan; 35(1):e23567. PubMed ID: 32909271
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 01; 105(6):518-21. PubMed ID: 16801042
    [Abstract] [Full Text] [Related]

  • 7. [Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial].
    Chaabouni M, Fersi M, Belghith N, Maazoul F, M'rad R, Ben Jemaa L, Gandoura N, Chaabouni H.
    Tunis Med; 2007 Oct 01; 85(10):885-90. PubMed ID: 18236814
    [Abstract] [Full Text] [Related]

  • 8. [Gene testing in Treacher Collins syndrome].
    Zsigmond A, Till Á, Pintér AL, Maász A, Szabó A, Hadzsiev K.
    Orv Hetil; 2020 Dec 27; 161(52):2201-2205. PubMed ID: 33361506
    [Abstract] [Full Text] [Related]

  • 9. A novel nonsense mutation in the TCOF1 gene in one Chinese newborn with Treacher Collins syndrome.
    Zeng H, Xie M, Li J, Xie H, Lu X.
    Int J Pediatr Otorhinolaryngol; 2021 Feb 27; 141():110561. PubMed ID: 33341718
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
    Liu J, Lin P, Pang J, Jia Z, Peng Y, Xi H, Wu L, Li Z, Wang H.
    Mol Genet Genomic Med; 2020 Aug 27; 8(8):e1313. PubMed ID: 32543076
    [Abstract] [Full Text] [Related]

  • 11. [Analysis of TCOF1 mutation in a Chinese patient with Treacher-Collins syndrome].
    Huang H, Yang Y, Wu X, Duan J, Li H, Yi L, Fu J, Guo Z, Yue P, Li W, Zhang X, Huo X, Chen K.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct 10; 35(5):683-685. PubMed ID: 30298495
    [Abstract] [Full Text] [Related]

  • 12. A Novel Missense Variant in the TCOF1 Gene in one Chinese Case With Treacher Collins Syndrome.
    Yin B, Pang YY, Shi JY, Lin YS, Sun JL, Zheng Q, Shi B, Jia ZL.
    Cleft Palate Craniofac J; 2024 Feb 10; 61(2):192-199. PubMed ID: 36082953
    [Abstract] [Full Text] [Related]

  • 13. Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
    Gladwin AJ, Dixon J, Loftus SK, Edwards S, Wasmuth JJ, Hennekam RC, Dixon MJ.
    Hum Mol Genet; 1996 Oct 10; 5(10):1533-8. PubMed ID: 8894686
    [Abstract] [Full Text] [Related]

  • 14. 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 10; 20(7):769-77. PubMed ID: 22317976
    [Abstract] [Full Text] [Related]

  • 15. Tcof1-Related Molecular Networks in Treacher Collins Syndrome.
    Dai J, Si J, Wang M, Huang L, Fang B, Shi J, Wang X, Shen G.
    J Craniofac Surg; 2016 Sep 10; 27(6):1420-6. PubMed ID: 27300466
    [Abstract] [Full Text] [Related]

  • 16. A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome.
    Sun H, Xu X, Chen B, Wang Y, Lyu J, Guo L, Yuan Y, Ren D.
    BMC Med Genomics; 2024 Mar 18; 17(1):75. PubMed ID: 38500116
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 16(4):261-7. PubMed ID: 17786119
    [Abstract] [Full Text] [Related]

  • 18. Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
    Sakai D, Trainor PA.
    Int J Biochem Cell Biol; 2009 Jun 18; 41(6):1229-32. PubMed ID: 19027870
    [Abstract] [Full Text] [Related]

  • 19. 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 18; 77(9):1410-5. PubMed ID: 23838542
    [Abstract] [Full Text] [Related]

  • 20. 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]

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