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 *

150 related articles for article (PubMed ID: 10518289)

  • 1. Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
    Willers I; Bolz H; Wehnert M; Gal A
    J Inherit Metab Dis; 1999 Oct; 22(7):845-6. PubMed ID: 10518289
    [No Abstract]   [Full Text] [Related]  

  • 2. Lesch-Nyhan disease.
    Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2008 Jun; 27(6):559-63. PubMed ID: 18600504
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.
    Rijksen G; Staal GE; van der Vlist MJ; Beemer Fa; Troost J; Gutensohn W; van Laarhoven JP; de Bruyn CH
    Hum Genet; 1981; 57(1):39-47. PubMed ID: 7262868
    [No Abstract]   [Full Text] [Related]  

  • 4. Lesch-Nyhan syndrome: mutation, prevention, and therapy.
    Caskey CT
    Res Publ Assoc Res Nerv Ment Dis; 1987; 65():187-94. PubMed ID: 3330841
    [No Abstract]   [Full Text] [Related]  

  • 5. HGPRT structural gene mutation in Lesch-Nyhan-syndrome as indicated by antigenic activity and reversion of the enzyme deficiency.
    Strauss M; Lübbe L; Geissler E
    Hum Genet; 1981; 57(2):185-8. PubMed ID: 7228031
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child.
    Rebai I; Kraoua I; Benrhouma H; Rouissi A; Turki I; Ceballos-Picot I; Gouider-Khouja N
    Brain Dev; 2014 Nov; 36(10):921-3. PubMed ID: 24503445
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. The molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in French families; report of two novel mutations.
    Liu G; Aral B; Zabot MT; Kamoun P; Ceballos-Picot I
    Hum Mutat; 1998; Suppl 1():S88-90. PubMed ID: 9452051
    [No Abstract]   [Full Text] [Related]  

  • 9. Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
    Gucev Z; Koceva S; Marinaki A; Fairbanks L; Kirovski I; Tasic V
    Clin Genet; 2010 Sep; 78(3):296-7. PubMed ID: 20695874
    [No Abstract]   [Full Text] [Related]  

  • 10. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice.
    Wu CL; Melton DW
    Nat Genet; 1993 Mar; 3(3):235-40. PubMed ID: 8485579
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A female case of the Leach-Nyhan syndrome.
    Hara K; Kashiwamata S; Ogasawara N; Ohishi H; Natsume R; Yamanaka T; Hakamada S; Miyazaki S; Watanabe K
    Tohoku J Exp Med; 1982 Jul; 137(3):275-82. PubMed ID: 7112549
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Lesch-Nyhan disease studied in intact fibroblasts].
    Lartigau MT; Martínez A; Bakay B; Page T; Nyhan WL
    An Esp Pediatr; 1983 May; 18(5):394-8. PubMed ID: 6614674
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
    Seegmiller JE
    Adv Hum Genet; 1976; 6():75-163. PubMed ID: 779428
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.
    Itiaba K; Melançon SB; Dallaire L; Crawhall JC
    Biochem Med; 1978 Apr; 19(2):252-9. PubMed ID: 656085
    [No Abstract]   [Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.