These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

143 related articles for article (PubMed ID: 7660995)

  • 1. Direct evidence for a hot spot of germline mutation at HPRT locus.
    Fujimori S; Tagaya T; Yamaoka N; Saito H; Kamatani N; Akaoka I
    Adv Exp Med Biol; 1994; 370():679-82. PubMed ID: 7660995
    [No Abstract]   [Full Text] [Related]  

  • 2. Characterization of mutations in phenotypic variants of hypoxanthine phosphoribosyltransferase deficiency.
    Sege-Peterson K; Chambers J; Page T; Jones OW; Nyhan WL
    Hum Mol Genet; 1992 Sep; 1(6):427-32. PubMed ID: 1301916
    [TBL] [Abstract][Full Text] [Related]  

  • 3. HPRT-mutations in Italian Lesch-Nyhan patients.
    Gathof BS; Rocchigiani M; Micheli V; Gaigl Z; Gresser U
    Adv Exp Med Biol; 1998; 431():151-3. PubMed ID: 9598049
    [No Abstract]   [Full Text] [Related]  

  • 4. 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]  

  • 5. Genetic and clinical heterogeneity in hypoxanthine phosphoribosyltransferase deficiencies.
    Burgemeister R; Gutensohn W; Van den Berghe G; Jaeken J
    Adv Exp Med Biol; 1994; 370():331-5. PubMed ID: 7660921
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
    Fujimori S; Tagaya T; Kamatani N; Akaoka I
    Hum Genet; 1992 Dec; 90(4):385-8. PubMed ID: 1282899
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of two independent Japanese mutant HPRT genes using the PCR technique.
    Yamada Y; Goto H; Ogasawara N
    Adv Exp Med Biol; 1991; 309B():121-4. PubMed ID: 1840476
    [No Abstract]   [Full Text] [Related]  

  • 10. Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese.
    Fujimori S; Kamatani N; Nishida Y; Ogasawara N; Akaoka I
    Hum Genet; 1990 Apr; 84(5):483-6. PubMed ID: 2323782
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.
    Yamada Y; Nomura N; Kitoh H; Wakamatsu N; Ogasawara N
    Adv Exp Med Biol; 2000; 486():29-33. PubMed ID: 11783502
    [No Abstract]   [Full Text] [Related]  

  • 12. Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
    Yamada Y; Goto H; Suzumori K; Adachi R; Ogasawara N
    Hum Genet; 1992 Dec; 90(4):379-84. PubMed ID: 1483694
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Lesch-Nyhan syndrome due to a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale).
    Fujimori S; Davidson BL; Kelley WN; Palella TD
    Adv Exp Med Biol; 1989; 253A():135-8. PubMed ID: 2624182
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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]  

  • 16. Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome.
    Yamada Y; Goto H; Suzumori K; Ogasawara N
    Adv Exp Med Biol; 1998; 431():211-4. PubMed ID: 9598061
    [No Abstract]   [Full Text] [Related]  

  • 17. Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome.
    Fuscoe JC; Nelsen AJ
    Hum Mol Genet; 1994 Jan; 3(1):199-200. PubMed ID: 8162028
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. The molecular characterisation of HPRT CHERMSIDE and HPRT COORPAROO: two Lesch-Nyhan patients with reduced amounts of mRNA.
    Gordon RB; Dawson PA; Sculley DG; Emmerson BT; Caskey CT; Gibbs RA
    Gene; 1991 Dec; 108(2):299-304. PubMed ID: 1840549
    [TBL] [Abstract][Full Text] [Related]  

  • 20. HPRT: gene structure, expression, and mutation.
    Stout JT; Caskey CT
    Annu Rev Genet; 1985; 19():127-48. PubMed ID: 3909940
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.