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Journal Abstract Search

172 related items for PubMed ID: 19475717

  • 21. An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.
    Balestra D, Ferrarese M, Lombardi S, Ziliotto N, Branchini A, Petersen N, Bosma P, Pinotti M, van de Graaf SFJ.
    Int J Mol Sci; 2020 Nov 19; 21(22):. PubMed ID: 33228018
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  • 22. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.
    Hum Mutat; 2002 Feb 19; 19(2):93-107. PubMed ID: 11793468
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  • 23. Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
    Zhou Y, Jiang X, Zhang Y, Zhang Y, Sun F, Ma Y.
    BMC Pregnancy Childbirth; 2024 Jul 22; 24(1):491. PubMed ID: 39039447
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  • 24. [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 22; 30(2):195-8. PubMed ID: 23568734
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  • 27. Improved molecular diagnostics for ornithine transcarbamylase deficiency.
    Grompe M, Caskey CT, Fenwick RG.
    Am J Hum Genet; 1991 Feb 22; 48(2):212-22. PubMed ID: 1671317
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  • 29. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.
    Yamaguchi S, Brailey LL, Morizono H, Bale AE, Tuchman M.
    Hum Mutat; 2006 Jul 22; 27(7):626-32. PubMed ID: 16786505
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  • 30. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
    Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.
    J Genet Genomics; 2015 May 20; 42(5):181-94. PubMed ID: 26059767
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  • 33. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
    Engel K, Nuoffer JM, Mühlhausen C, Klaus V, Largiadèr CR, Tsiakas K, Santer R, Wermuth B, Häberle J.
    Mol Genet Metab; 2008 Jul 20; 94(3):292-7. PubMed ID: 18440262
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  • 36. 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 20; 70(Pt 6):797-801. PubMed ID: 17044854
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  • 38. 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 20; 15(4):380-1. PubMed ID: 10737985
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  • 40. [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; 20(1):19-22. PubMed ID: 12579493
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