BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

357 related articles for article (PubMed ID: 30333473)

  • 1. 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]  

  • 2. [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]  

  • 3. Early intervention for late-onset ornithine transcarbamylase deficiency.
    Fujisawa D; Mitsubuchi H; Matsumoto S; Iwai M; Nakamura K; Hoshide R; Harada N; Yoshino M; Endo F
    Pediatr Int; 2015; 57(1):e1-3. PubMed ID: 25711267
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].
    Liu N; Feng Y; Jiang M; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):106-109. PubMed ID: 32034732
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. [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]  

  • 7. Ornithine transcarbamylase deficiency: a novel splice site mutation in a family with meiotic recombination and a new useful SNP for diagnosis.
    Azevedo L; Vilarinho L; Teles EL; Amorim A
    Mol Genet Metab; 2002 May; 76(1):68-70. PubMed ID: 12175783
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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; 51(3):354-359.e1. PubMed ID: 25011434
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.
    Nussbaum RL; Boggs BA; Beaudet AL; Doyle S; Potter JL; O'Brien WE
    Am J Hum Genet; 1986 Feb; 38(2):149-58. PubMed ID: 3004207
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Direct and indirect mutation analyses in patients with ornithine transcarbamylase deficiency.
    Liechti-Gallati S; Dionisi C; Bachmann C; Wermuth B; Colombo JP
    Enzyme; 1991; 45(1-2):81-91. PubMed ID: 1806371
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 30(2):217-26. PubMed ID: 17334707
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [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; 28(3):328-31. PubMed ID: 21644234
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [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]  

  • 18. 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]  

  • 19. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
    Krijt J; Sokolová J; Ješina P; Dvořáková L; Řeboun M; Brennerová K; Mistrík M; Zeman J; Honzík T; Kožich V
    Clin Chem Lab Med; 2017 Jul; 55(8):1168-1177. PubMed ID: 28107167
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.