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Journal Abstract Search

241 related items for PubMed ID: 20817516

  • 1. An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
    Quintero-Rivera F, Deignan JL, Peredo J, Grody WW, Crandall B, Sims M, Cederbaum SD.
    Mol Genet Metab; 2010 Dec; 101(4):413-6. PubMed ID: 20817516
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  • 2. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
    Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ.
    Mol Genet Metab; 2009 Mar; 96(3):97-105. PubMed ID: 19138872
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  • 3. [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; 30(2):195-8. PubMed ID: 23568734
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  • 4. 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
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  • 6. 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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  • 7. 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 22; 19(2):185-6. PubMed ID: 11793483
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  • 9. Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.
    Balasubramaniam S, Rudduck C, Bennetts B, Peters G, Wilcken B, Ellaway C.
    Mol Genet Metab; 2010 Jan 22; 99(1):34-41. PubMed ID: 19783189
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  • 10. Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.
    Gallant NM, Gui D, Lassman CR, Yong WH, Teitell M, Mandelker D, Lorey F, Martinez-Agosto JA, Quintero-Rivera F.
    Gene; 2015 Feb 10; 556(2):249-53. PubMed ID: 25434494
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  • 11. 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 10; 20(5):407-8. PubMed ID: 12402347
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  • 12. [Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].
    Mo WQ, Liu L, Chen YY, Cheng J, Li XZ, Zhou ZH, Mao XJ, Zhang W.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Jun 10; 28(3):328-31. PubMed ID: 21644234
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  • 13. 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 10; 24(6):1413-5. PubMed ID: 8938172
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  • 14. [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 10; 31(5):565-9. PubMed ID: 25297582
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  • 16. Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
    Bisanzi S, Morrone A, Donati MA, Pasquini E, Spada M, Strisciuglio P, Parenti G, Parini R, Papadia F, Zammarchi E.
    Mol Genet Metab; 2002 Jun 10; 76(2):137-44. PubMed ID: 12083811
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  • 20. [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 10; 20(1):19-22. PubMed ID: 12579493
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