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171 related items for PubMed ID: 17044854

  • 1. 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; 70(Pt 6):797-801. PubMed ID: 17044854
    [Abstract] [Full Text] [Related]

  • 2. 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 Nov; 53(5):229-40. PubMed ID: 18204299
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. 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; 14(4):352-3. PubMed ID: 10502831
    [Abstract] [Full Text] [Related]

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

  • 7. 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]

  • 8. 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]

  • 9. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
    Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.
    Hum Mutat; 2006 Jul 05; 27(7):626-32. PubMed ID: 16786505
    [Abstract] [Full Text] [Related]

  • 10. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 05; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 11. Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
    Tuchman M, Plante RJ.
    Hum Mutat; 1995 Aug 05; 5(4):293-5. PubMed ID: 7627182
    [Abstract] [Full Text] [Related]

  • 12. [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]

  • 13. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb 05; 19(2):93-107. PubMed ID: 11793468
    [Abstract] [Full Text] [Related]

  • 14. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
    Schimanski U, Krieger D, Horn M, Stremmel W, Wermuth B, Theilmann L.
    Hepatology; 1996 Dec 05; 24(6):1413-5. PubMed ID: 8938172
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Polymorphisms in the human ornithine transcarbamylase gene useful for allele tracking. Mutations in brief no. 193. Online.
    Plante RJ, Tuchman M.
    Hum Mutat; 1998 Jan 02; 12(4):289-90. PubMed ID: 10660345
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.
    Tuchman M, Holzknecht RA, Gueron AB, Berry SA, Tsai MY.
    Pediatr Res; 1992 Nov 02; 32(5):600-4. PubMed ID: 1480464
    [Abstract] [Full Text] [Related]

  • 19. Lymphocyte mRNA analysis of the ornithine transcarbamylase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations.
    Giorgi M, Morrone A, Donati MA, Ciani F, Bardelli T, Biasucci G, Zammarchi E.
    Hum Mutat; 2000 Apr 02; 15(4):380-1. PubMed ID: 10737985
    [Abstract] [Full Text] [Related]

  • 20. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
    Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K.
    Hum Mutat; 1994 Apr 02; 3(4):402-6. PubMed ID: 8081398
    [No Abstract] [Full Text] [Related]

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