BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 17570074)

  • 1. 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]  

  • 2. 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]  

  • 3. Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
    Caldovic L; Abdikarim I; Narain S; Tuchman M; Morizono H
    J Genet Genomics; 2015 May; 42(5):181-94. PubMed ID: 26059767
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 60(9):501-7. PubMed ID: 25994866
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.
    Swarts L; Leisegang F; Owen EP; Henderson HE
    J Inherit Metab Dis; 2007 Feb; 30(1):101. PubMed ID: 17186414
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
    Engel K; Nuoffer JM; Mühlhausen C; Klaus V; Largiadèr CR; Tsiakas K; Santer R; Wermuth B; Häberle J
    Mol Genet Metab; 2008 Jul; 94(3):292-7. PubMed ID: 18440262
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.
    Musalkova D; Sticova E; Reboun M; Sokolova J; Krijt J; Honzikova J; Gurka J; Neroldova M; Honzik T; Zeman J; Jirsa M; Dvorakova L; Hrebicek M
    Virchows Arch; 2018 Jun; 472(6):1029-1039. PubMed ID: 29623395
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.
    Jakubiczka S; Bettecken T; Mohnike K; Schneppenheim R; Stumm M; Tönnies H; Volleth M; Wieacker P
    Eur J Pediatr; 2007 Jul; 166(7):743-5. PubMed ID: 17091258
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia.
    Segues B; Rozet JM; Gilbert B; Saugier-Veber P; Rabier D; Saudubray JM; Carré M; Rouleau FP; Menget A; Bonardi JM
    Prenat Diagn; 1995 Aug; 15(8):757-61. PubMed ID: 7479595
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations and polymorphisms in the human ornithine transcarbamylase gene.
    Tuchman M; Jaleel N; Morizono H; Sheehy L; Lynch MG
    Hum Mutat; 2002 Feb; 19(2):93-107. PubMed ID: 11793468
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene.
    Quental R; Azevedo L; Rubio V; Diogo L; Amorim A
    Clin Genet; 2009 May; 75(5):457-64. PubMed ID: 19475717
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency.
    Yorifuji T; Muroi J; Uematsu A; Tanaka K; Kiwaki K; Endo F; Matsuda I; Nagasaka H; Furusho K
    Clin Genet; 1998 Oct; 54(4):349-53. PubMed ID: 9831349
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
    Storkanova G; Vlaskova H; Chuzhanova N; Zeman J; Stranecky V; Majer F; Peskova K; Luksan O; Jirsa M; Hrebicek M; Dvorakova L
    Clin Genet; 2013 Dec; 84(6):552-9. PubMed ID: 23278509
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.