These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

173 related articles for article (PubMed ID: 25932215)

  • 1. Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.
    Liu J; Dong L; Wang Y; Zhang M
    Int J Clin Exp Med; 2015; 8(2):2656-61. PubMed ID: 25932215
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency].
    Wang Y; Liu X; Wu H; Liu H; Wang C; He X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):148-51. PubMed ID: 24711021
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
    Yoo HW; Kim GH; Lee DH
    J Inherit Metab Dis; 1996; 19(1):31-42. PubMed ID: 8830175
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
    Sun WH; Yang Y; Zhang YP; Li XT; Zhang M; Cao Y; Wang Y
    Zhonghua Er Ke Za Zhi; 2011 May; 49(5):356-60. PubMed ID: 21624287
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 24():7431-7437. PubMed ID: 30333473
    [TBL] [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; 53(5):229-40. PubMed ID: 18204299
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.
    Hata A; Setoyama C; Shimada K; Takeda E; Kuroda Y; Akaboshi I; Matsuda I
    Am J Hum Genet; 1989 Jul; 45(1):123-7. PubMed ID: 2741942
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 76(2):137-44. PubMed ID: 12083811
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Newborn ornithine carbamyltransferase deficiency caused by new
    Yu A; Gao D; Zeng S; Huang L; Jiang F; Feng X
    Transl Pediatr; 2023 Oct; 12(10):1887-1895. PubMed ID: 37969118
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency.
    García-Pérez MA; Climent C; Briones P; Vilaseca MA; Rodés M; Rubio V
    J Inherit Metab Dis; 1997 Nov; 20(6):769-77. PubMed ID: 9427144
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
    Jang YJ; LaBella AL; Feeney TP; Braverman N; Tuchman M; Morizono H; Ah Mew N; Caldovic L
    Hum Mutat; 2018 Apr; 39(4):527-536. PubMed ID: 29282796
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Four new mutations in the ornithine transcarbamylase gene.
    Reish O; Plante RJ; Tuchman M
    Biochem Med Metab Biol; 1993 Oct; 50(2):169-75. PubMed ID: 8260194
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
    Hata A; Matsuura T; Setoyama C; Shimada K; Yokoi T; Akaboshi I; Matsuda I
    Hum Genet; 1991 May; 87(1):28-32. PubMed ID: 2037279
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. 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; 19(2):185-6. PubMed ID: 11793483
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
    Magesh R; George Priya Doss C
    3 Biotech; 2014 Dec; 4(6):621-634. PubMed ID: 28324312
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 15(4):380-1. PubMed ID: 10737985
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the
    Ali EZ; Zakaria Y; Mohd Radzi MA; Ngu LH; Jusoh SA
    Biomed Res Int; 2018; 2018():4320831. PubMed ID: 30175132
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.