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Journal Abstract Search

141 related items for PubMed ID: 9452024

  • 1. Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
    Shimadzu M, Matsumoto H, Matsuura T, Kobayashi K, Komaki S, Kiwaki K, Hoshide R, Endo F, Saheki T, Matsuda I.
    Hum Mutat; 1998; Suppl 1():S5-7. PubMed ID: 9452024
    [No Abstract] [Full Text] [Related]

  • 2. [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]

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  • 4. [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; 31(5):565-9. PubMed ID: 25297582
    [Abstract] [Full Text] [Related]

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

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

  • 7. 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; 3(4):402-6. PubMed ID: 8081398
    [No Abstract] [Full Text] [Related]

  • 8. 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; 76(2):137-44. PubMed ID: 12083811
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  • 10. 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]

  • 11. 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 Sep 05; 18(3):356-7. PubMed ID: 7474905
    [No Abstract] [Full Text] [Related]

  • 12. Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
    Calvas P, Ségues B, Rozet JM, Rabier D, Bonnefond JP, Munnich A.
    Hum Mutat; 1998 Sep 05; Suppl 1():S81-4. PubMed ID: 9452049
    [No Abstract] [Full Text] [Related]

  • 13. Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.
    Nishiyori A, Yoshino M, Tananari Y, Matsuura T, Hoshide R, Mastuda I, Mori M, Kato H.
    Hum Mutat; 1998 Sep 05; Suppl 1():S131-3. PubMed ID: 9452065
    [No Abstract] [Full Text] [Related]

  • 14. 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 05; 51(3):354-359.e1. PubMed ID: 25011434
    [Abstract] [Full Text] [Related]

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  • 16. 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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  • 18. Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.
    Tsai MY, Holzknecht RA, Tuchman M.
    Hum Genet; 1993 May 18; 91(4):321-5. PubMed ID: 8099056
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  • 19. The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.
    Tuchman M, Plante RJ, Giguère Y, Lemieux B.
    Hum Mutat; 1994 May 18; 3(3):318-20. PubMed ID: 8019569
    [No Abstract] [Full Text] [Related]

  • 20. 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]

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