BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 21780909)

  • 1. Novel mutations in the human HPRT gene.
    Nguyen KV; Naviaux RK; Paik KK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2011 Jun; 30(6):440-5. PubMed ID: 21780909
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of novel mutations in the human HPRT gene.
    Nguyen KV; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2013; 32(3):155-60. PubMed ID: 23473102
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.
    Yamada Y; Nomura N; Yamada K; Wakamatsu N; Kaneko K; Fujimori S
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):570-4. PubMed ID: 18600506
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y
    Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lesch-Nyhan syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA.
    Nguyen KV; Naviaux RK; Paik KK; Nyhan WL
    Mol Genet Metab; 2012 Aug; 106(4):498-501. PubMed ID: 22766437
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
    Yamada Y; Nomura N; Yamada K; Wakamatsu N
    Mol Genet Metab; 2007 Jan; 90(1):70-6. PubMed ID: 17027311
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
    Yamada Y; Yamada K; Sonta S; Wakamatsu N; Ogasawara N
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1169-72. PubMed ID: 15571223
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Partial HPRT deficiency phenotype and incomplete splicing mutation.
    Torres RJ; Garcia MG; Puig JG
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):295-300. PubMed ID: 20544510
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic analysis of the HPRT mutation of Lesch-Nyhan syndrome in a Chinese family.
    Lee WJ; Lee HM; Chi CS; Yang MT; Lin HY; Lin WH
    Zhonghua Yi Xue Za Zhi (Taipei); 1995 Dec; 56(6):359-66. PubMed ID: 8851475
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].
    Maruta K; Ohi T; Yamada Y; Goto H; Ogasawara N; Matsukura S
    No To Shinkei; 1997 Nov; 49(11):1009-13. PubMed ID: 9396032
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
    Marcus S; Christensen E; Malm G
    Hum Mutat; 1993; 2(6):473-7. PubMed ID: 8111415
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
    Taniguchi A; Yamada Y; Hakoda M; Sekita C; Kawamoto M; Kaneko H; Yamanaka H
    Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1266-71. PubMed ID: 22132985
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
    Tohyama J; Nanba E; Ohno K
    Hum Genet; 1994 Feb; 93(2):175-81. PubMed ID: 8112742
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA).
    Yamada Y; Goto H; Shiomi M; Yamamoto T; Higashino K; Ogasawara N
    Jpn J Hum Genet; 1996 Dec; 41(4):427-30. PubMed ID: 9088115
    [TBL] [Abstract][Full Text] [Related]  

  • 15. New mutations of the HPRT gene in Lesch-Nyhan syndrome.
    Mak BS; Chi CS; Tsai CR; Lee WJ; Lin HY
    Pediatr Neurol; 2000 Oct; 23(4):332-5. PubMed ID: 11068166
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.
    Nguyen KV; Naviaux RK; Paik KK; Nakayama T; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2012; 31(8):616-29. PubMed ID: 22908952
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
    Torres RJ; Mateos FA; Molano J; Gathoff BS; O'Neill JP; Gundel RM; Trombley L; Puig JG
    Hum Mutat; 2000 Apr; 15(4):383. PubMed ID: 10737990
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
    Nguyen KV; Naviaux RK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2017 Nov; 36(11):704-711. PubMed ID: 29185864
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
    Mizunuma M; Fujimori S; Ogino H; Ueno T; Inoue H; Kamatani N
    Hum Mutat; 2001 Nov; 18(5):435-43. PubMed ID: 11668636
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
    Yamada Y; Nomura N; Yamada K; Kimura R; Fukushi D; Wakamatsu N; Matsuda Y; Yamauchi T; Ueda T; Hasegawa H; Nakamura M; Ichida K; Kaneko K; Fujimori S
    Nucleosides Nucleotides Nucleic Acids; 2014; 33(4-6):218-22. PubMed ID: 24940672
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.