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Journal Abstract Search

191 related items for PubMed ID: 2741942

  • 21. [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; 20(1):19-22. PubMed ID: 12579493
    [Abstract] [Full Text] [Related]

  • 22. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
    Li S, Cai Y, Shi C, Liu M, Liu B, Lin L, Xiao X, Hao H.
    Med Sci Monit; 2018 Oct 18; 24():7431-7437. PubMed ID: 30333473
    [Abstract] [Full Text] [Related]

  • 23. Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val).
    Jamroz E, Paprocka J, Sokół M, Popowska E, Ciara E.
    Neurol Neurochir Pol; 2013 Oct 18; 47(3):283-9. PubMed ID: 23821427
    [Abstract] [Full Text] [Related]

  • 24. 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 18; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

  • 25. [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 18; 30(2):195-8. PubMed ID: 23568734
    [Abstract] [Full Text] [Related]

  • 26. Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.
    Azevedo L, Vilarinho L, Teles EL, Amorim A.
    Mol Genet Metab; 2002 May 18; 76(1):68-70. PubMed ID: 12175783
    [Abstract] [Full Text] [Related]

  • 27. Novel human pathological mutations. Gene symbol: OTC. Disease: ornithine transcarbamylase deficiency.
    Lin HY, Lin HY, Lin SP.
    Hum Genet; 2010 Apr 18; 127(4):475. PubMed ID: 21488237
    [No Abstract] [Full Text] [Related]

  • 28. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M.
    Hum Mutat; 1993 Apr 18; 2(3):174-8. PubMed ID: 8364586
    [Abstract] [Full Text] [Related]

  • 29. Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.
    Carstens RP, Fenton WA, Rosenberg LR.
    Am J Hum Genet; 1991 Jun 18; 48(6):1105-14. PubMed ID: 2035531
    [Abstract] [Full Text] [Related]

  • 30. Ornithine transcarbamylase deficiency: new sites with increased probability of mutation.
    Oppliger Leibundgut EO, Liechti-Gallati S, Colombo JP, Wermuth B.
    Hum Genet; 1995 Feb 18; 95(2):191-6. PubMed ID: 7860066
    [Abstract] [Full Text] [Related]

  • 31. 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 18; 19(2):185-6. PubMed ID: 11793483
    [Abstract] [Full Text] [Related]

  • 32. Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
    Strautnieks S, Rutland P, Malcolm S.
    J Med Genet; 1991 Dec 18; 28(12):871-4. PubMed ID: 1757964
    [Abstract] [Full Text] [Related]

  • 33. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
    Nussbaum RL, Boggs BA, Beaudet AL, Doyle S, Potter JL, O'Brien WE.
    Am J Hum Genet; 1986 Feb 18; 38(2):149-58. PubMed ID: 3004207
    [Abstract] [Full Text] [Related]

  • 34. Structure of the ornithine transcarbamylase (OTC) gene and DNA diagnosis of OTC deficiency.
    Matsuda I, Hata A, Matsuura T, Tsuzuki T, Shimada K.
    Clin Chim Acta; 1989 Dec 15; 185(3):283-9. PubMed ID: 2575934
    [Abstract] [Full Text] [Related]

  • 35. Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
    Yokoi K, Nakajima Y, Inagaki H, Tsutsumi M, Ito T, Kurahashi H.
    BMC Med Genet; 2018 Dec 12; 19(1):210. PubMed ID: 30541480
    [Abstract] [Full Text] [Related]

  • 36. Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency.
    Bowling F, McGown I, McGill J, Cowley D, Tuchman M.
    Am J Med Genet; 1999 Aug 27; 85(5):452-4. PubMed ID: 10405441
    [Abstract] [Full Text] [Related]

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  • 38. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.
    Quental R, Azevedo L, Rubio V, Diogo L, Amorim A.
    Clin Genet; 2009 May 27; 75(5):457-64. PubMed ID: 19475717
    [Abstract] [Full Text] [Related]

  • 39.
    ; . PubMed ID:
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  • 40. A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.
    Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I.
    J Inherit Metab Dis; 1995 May 27; 18(3):356-7. PubMed ID: 7474905
    [No Abstract] [Full Text] [Related]

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