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Journal Abstract Search

172 related items for PubMed ID: 19475717

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  • 3. [Applying multiplex ligation-dependent probe amplification in the diagnosis of 5 cases with ornithine transcarbamylase deficiency].
    Gong ZW, Han LS, Ye J, Qiu WJ, Zhang HW, Yu YG, Liang LL, Gao XL, Wang Y, Ji WJ, Gu XF.
    Zhonghua Er Ke Za Zhi; 2016 Jun 02; 54(6):437-40. PubMed ID: 27256231
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  • 4. 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
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  • 5. 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 12; 19(2):185-6. PubMed ID: 11793483
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  • 6. Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
    Arranz JA, Riudor E, Marco-Marín C, Rubio V.
    J Inherit Metab Dis; 2007 Apr 12; 30(2):217-26. PubMed ID: 17334707
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  • 7. 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 12; 99(1):34-41. PubMed ID: 19783189
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  • 8. 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 Jan 12; 53(5):229-40. PubMed ID: 18204299
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  • 9. 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 12; 76(2):137-44. PubMed ID: 12083811
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  • 10. [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 12; 31(5):565-9. PubMed ID: 25297582
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  • 11. Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome.
    Arranz JA, Madrigal I, Riudor E, Armengol L, Milà M.
    J Inherit Metab Dis; 2007 Oct 12; 30(5):813. PubMed ID: 17570074
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  • 12. 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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  • 13. 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 18; 101(4):413-6. PubMed ID: 20817516
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  • 14. Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
    Choi JH, Lee BH, Kim JH, Kim GH, Kim YM, Cho J, Cheon CK, Ko JM, Lee JH, Yoo HW.
    J Hum Genet; 2015 Sep 18; 60(9):501-7. PubMed ID: 25994866
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  • 15. 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
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  • 18. A novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemia.
    Mohamed S, Hamad MH, Kondkar AA, Abu-Amero KK.
    Saudi Med J; 2015 Oct 18; 36(10):1229-32. PubMed ID: 26446336
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  • 19. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW, Kim GH, Lee DH.
    J Inherit Metab Dis; 1996 Oct 18; 19(1):31-42. PubMed ID: 8830175
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  • 20. 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 18; 20(5):407-8. PubMed ID: 12402347
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