BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 24001192)

  • 1. Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.
    Jian WX; Peng WH; Li HL; Feng QW; Wang WX; Su Q
    Nucleosides Nucleotides Nucleic Acids; 2013; 32(4):189-95. PubMed ID: 24001192
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.
    Torres RJ; Garcia MG; Puig JG
    Gene; 2012 Dec; 511(2):306-7. PubMed ID: 23046577
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

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

  • 8. Methylation status of HPRT1 promoter in HPRT deficiency with normal coding region.
    Garcia MG; Torres RJ; Puig JG
    Nucleosides Nucleotides Nucleic Acids; 2010 Jun; 29(4-6):301-5. PubMed ID: 20544511
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Variant phenotype of Lesch-Nyhan syndrome].
    Torres Jiménez R; García García M; García Puig J
    Med Clin (Barc); 2011 Jan; 136(2):63-6. PubMed ID: 20646721
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Analysis of the HPRT1 gene in 35 Italian Lesch-Nyhan families: 45 patients and 77 potential female carriers.
    de Gemmis P; Anesi L; Lorenzetto E; Gioachini I; Fortunati E; Zandonà G; Fanin E; Fairbanks L; Andrighetto G; Parmigiani P; Dolcetta D; Nyhan WL; Hladnik U
    Mutat Res; 2010 Oct; 692(1-2):1-5. PubMed ID: 20638392
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutation in HPRT1 causing a splicing error with multiple variations.
    Baba S; Saito T; Yamada Y; Takeshita E; Nomura N; Yamada K; Wakamatsu N; Sasaki M
    Nucleosides Nucleotides Nucleic Acids; 2017 Jan; 36(1):1-6. PubMed ID: 27754763
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
    De Gregorio L; Jinnah HA; Harris JC; Nyhan WL; Schretlen DJ; Trombley LM; O'Neill JP
    Mol Genet Metab; 2005 May; 85(1):70-7. PubMed ID: 15862283
    [TBL] [Abstract][Full Text] [Related]  

  • 14. HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch-Nyhan disease.
    Cossu A; Orrù S; Jacomelli G; Carcassi C; Contu L; Sestini S; Corradi MR; Pompucci G; Carcassi A; Micheli V
    Biochim Biophys Acta; 2006 Jan; 1762(1):29-33. PubMed ID: 16216473
    [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. 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]  

  • 17. Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome.
    Kim KJ; Yamada Y; Suzumori K; Choi Y; Yang SW; Cheong HI; Hwang YS; Goto H; Ogasawara N
    J Korean Med Sci; 1997 Aug; 12(4):332-9. PubMed ID: 9288634
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Human HPRT1 gene and the Lesch-Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein.
    Nguyen KV; Naviaux RK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2017 Feb; 36(2):151-157. PubMed ID: 28045594
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.