BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 25434494)

  • 1. 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; 556(2):249-53. PubMed ID: 25434494
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations.
    Gao J; Gao F; Hong F; Yu H; Jiang P
    Am J Emerg Med; 2015 Mar; 33(3):474.e1-3. PubMed ID: 25227973
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
    Deardorff MA; Gaddipati H; Kaplan P; Sanchez-Lara PA; Sondheimer N; Spinner NB; Hakonarson H; Ficicioglu C; Ganesh J; Markello T; Loechelt B; Zand DJ; Yudkoff M; Lichter-Konecki U
    Mol Genet Metab; 2008 Aug; 94(4):498-502. PubMed ID: 18524659
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Establishment of ornithine transcarbamylase deficiency-derived primary human hepatocyte with hepatic functions.
    Su S; Di Poto C; Kroemer AH; Cui W; Roy R; Liu X; Ressom HW
    Exp Cell Res; 2019 Nov; 384(1):111621. PubMed ID: 31513782
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypocitrullinemia in expanded newborn screening by LC-MS/MS is not a reliable marker for ornithine transcarbamylase deficiency.
    Cavicchi C; Malvagia S; la Marca G; Gasperini S; Donati MA; Zammarchi E; Guerrini R; Morrone A; Pasquini E
    J Pharm Biomed Anal; 2009 Jul; 49(5):1292-5. PubMed ID: 19359120
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hyperammonemia in ornithine transcarbamylase-deficient recipients following living donor liver transplantation from heterozygous carrier donors.
    Rahayatri TH; Uchida H; Sasaki K; Shigeta T; Hirata Y; Kanazawa H; Mali V; Fukuda A; Sakamoto S; Kasahara M
    Pediatr Transplant; 2017 Feb; 21(1):. PubMed ID: 27891735
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 99(1):34-41. PubMed ID: 19783189
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review.
    Torkzaban M; Haddad A; Baxter JK; Berghella V; Gahl WA; Al-Kouatly HB
    Am J Med Genet A; 2019 Oct; 179(10):2091-2100. PubMed ID: 31441224
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ornithine transcarbamylase deficiency unmasked because of gastrointestinal bleeding.
    Trivedi M; Zafar S; Spalding MJ; Jonnalagadda S
    J Clin Gastroenterol; 2001 Apr; 32(4):340-3. PubMed ID: 11276280
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 30(5):813. PubMed ID: 17570074
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Anesthetic implications of ornithine transcarbamylase deficiency.
    Dutoit AP; Flick RR; Sprung J; Babovic-Vuksanovic D; Weingarten TN
    Paediatr Anaesth; 2010 Jul; 20(7):666-73. PubMed ID: 20497355
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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]  

  • 15. Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.
    Hartung B; Temme O; Neuen-Jacob E; Ritz-Timme S; Hinderhofer K; Daldrup T
    Int J Legal Med; 2016 May; 130(3):783-5. PubMed ID: 26753873
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
    Laemmle A; Gallagher RC; Keogh A; Stricker T; Gautschi M; Nuoffer JM; Baumgartner MR; Häberle J
    PLoS One; 2016; 11(4):e0153358. PubMed ID: 27070778
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency.
    Sugahara G; Yamasaki C; Yanagi A; Furukawa S; Ogawa Y; Fukuda A; Enosawa S; Umezawa A; Ishida Y; Tateno C
    J Inherit Metab Dis; 2021 May; 44(3):618-628. PubMed ID: 33336822
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. 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]  

  • 20. Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency.
    Wakiya T; Sanada Y; Urahashi T; Ihara Y; Yamada N; Okada N; Ushijima K; Otomo S; Sakamoto K; Murayama K; Takayanagi M; Hakamada K; Yasuda Y; Mizuta K
    Mol Genet Metab; 2012 Mar; 105(3):404-7. PubMed ID: 22264779
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.