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Journal Abstract Search

157 related items for PubMed ID: 15300856

  • 1. Evidence for mutational cis-acting factors affecting mutagenesis in the ornithine transcarbamylase gene.
    Azevedo L, Climent C, Vilarinho L, Calafell F, Amorim A.
    Hum Mutat; 2004 Sep; 24(3):273. PubMed ID: 15300856
    [Abstract] [Full Text] [Related]

  • 2. Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Feb; 19(2):185-6. PubMed ID: 11793483
    [Abstract] [Full Text] [Related]

  • 3. H intragenic polymorphisms and haplotype analysis in the ornithine transcarbamylase (OTC) gene and their relevance for tracking the inheritance of OTC deficiency.
    Climent C, Rubio V.
    Hum Mutat; 2002 Nov; 20(5):407-8. PubMed ID: 12402347
    [Abstract] [Full Text] [Related]

  • 4. In vitro demonstration of intra-locus compensation using the ornithine transcarbamylase protein as model.
    Suriano G, Azevedo L, Novais M, Boscolo B, Seruca R, Amorim A, Ghibaudi EM.
    Hum Mol Genet; 2007 Sep 15; 16(18):2209-14. PubMed ID: 17613537
    [Abstract] [Full Text] [Related]

  • 5. Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
    Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A.
    Ann Hum Genet; 2006 Nov 15; 70(Pt 6):797-801. PubMed ID: 17044854
    [Abstract] [Full Text] [Related]

  • 6. Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
    Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol J, Rubio V.
    Hum Mutat; 1999 Oct 15; 14(4):352-3. PubMed ID: 10502831
    [Abstract] [Full Text] [Related]

  • 7. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
    Ogino W, Takeshima Y, Nishiyama A, Okizuka Y, Yagi M, Tsuneishi S, Saiki K, Kugo M, Matsuo M.
    Kobe J Med Sci; 2007 Oct 15; 53(5):229-40. PubMed ID: 18204299
    [Abstract] [Full Text] [Related]

  • 8. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
    Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.
    Hum Mutat; 2006 Jul 15; 27(7):626-32. PubMed ID: 16786505
    [Abstract] [Full Text] [Related]

  • 9. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
    Matsuda I, Tanase S.
    Am J Med Genet; 1997 Sep 05; 71(4):378-83. PubMed ID: 9286441
    [Abstract] [Full Text] [Related]

  • 10. [Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
    Gao H, Li W, Yan ZH, Jiang MH, Rui DR, He YS.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Feb 05; 20(1):19-22. PubMed ID: 12579493
    [Abstract] [Full Text] [Related]

  • 11. Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.
    Tuchman M, Matsuda I, Munnich A, Malcolm S, Strautnieks S, Briede T.
    Am J Med Genet; 1995 Jan 02; 55(1):67-70. PubMed ID: 7702100
    [Abstract] [Full Text] [Related]

  • 12. [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
    Chen Z, Wen P, Wang G, Liu X, Chen L, Chen S, Wan L, Cui D, Shang Y, Li C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 02; 31(5):565-9. PubMed ID: 25297582
    [Abstract] [Full Text] [Related]

  • 13. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
    Dobrowolski SF, Ellingson CE, Caldovic L, Tuchman M.
    Hum Mutat; 2007 Nov 02; 28(11):1133-40. PubMed ID: 17565723
    [Abstract] [Full Text] [Related]

  • 14. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb 02; 19(2):93-107. PubMed ID: 11793468
    [Abstract] [Full Text] [Related]

  • 15. [Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency].
    Meng LL, Jiang T, Qin L, Ma DY, Chen YL, Han SP, Yu ZB, Guo XR, Hu P, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Apr 02; 30(2):195-8. PubMed ID: 23568734
    [Abstract] [Full Text] [Related]

  • 16. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M.
    Hum Mutat; 1993 Apr 02; 2(3):174-8. PubMed ID: 8364586
    [Abstract] [Full Text] [Related]

  • 17. Novel mutation in OTC gene causes neonatal death in twin brothers.
    Nagy GR, Largiadèr CR, Nuoffer JM, Nagy B, Lázár L, Papp Z.
    J Perinatol; 2007 Feb 02; 27(2):123-4. PubMed ID: 17262046
    [Abstract] [Full Text] [Related]

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 02; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 19. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
    Lee JH, Kim GH, Yoo HW, Cheon CK.
    Pediatr Neurol; 2014 Sep 02; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

  • 20. Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.
    Hwu WL, Huang YT, Chien YH, Yeh HY, Lu F, Chou SP, Lin JM, Chiang SC.
    Hum Genet; 2003 Sep 02; 113(4):365. PubMed ID: 12974275
    [No Abstract] [Full Text] [Related]

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