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 *

138 related articles for article (PubMed ID: 9598059)

  • 1. Genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) carrier status by restriction analysis and directed mutagenesis.
    Torres RJ; Buño A; Molano J; Mateos FA; Puig JG
    Adv Exp Med Biol; 1998; 431():201-4. PubMed ID: 9598059
    [No Abstract]   [Full Text] [Related]  

  • 2. [The genetic diagnosis of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. A study of 12 cases].
    Torres Jiménez R; Mateos Antón F; Molano Mateos J; García Puig J
    Med Clin (Barc); 1997 Mar; 108(9):344-8. PubMed ID: 9139158
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [Clinical spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency: study of 12 cases].
    García Puig J; Mateos FA; Jiménez ML; Arcas J; Miranda ME; Oríz Vázquez J
    Med Clin (Barc); 1994 May; 102(18):681-7. PubMed ID: 8028417
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome.
    Nguyen KV; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2016 Aug; 35(8):426-33. PubMed ID: 27379977
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Failure to diagnose Lesch-Nyhan syndrome by first trimester chorionic villus sampling.
    Gruber A; Zeitune M; Fejgin M
    Prenat Diagn; 1989 Jun; 9(6):452-3. PubMed ID: 2762241
    [No Abstract]   [Full Text] [Related]  

  • 7. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome.
    Edwards A; Gibbs RA; Nguyen PN; Ansorge W; Caskey CT
    Trans Assoc Am Physicians; 1989; 102():185-94. PubMed ID: 2638525
    [No Abstract]   [Full Text] [Related]  

  • 8. Advances in the study of inherited metabolic disease.
    Gibbs DA
    J Inherit Metab Dis; 1989; 12(2):240-6. PubMed ID: 2569050
    [No Abstract]   [Full Text] [Related]  

  • 9. Hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency in a girl.
    Ogasawara N; Kashiwamata S; Oishi H; Hara K; Watanabe K; Miyazaki S; Kumagai T; Hakamada S
    Adv Exp Med Biol; 1984; 165 Pt A():13-8. PubMed ID: 6720366
    [No Abstract]   [Full Text] [Related]  

  • 10. 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]  

  • 11. Detection of hypoxanthine guanine phosphoribosyl transferase heterozygotes by thin layer chromatography and autoradiography.
    Page T; Bakay B; Nyhan W
    Adv Exp Med Biol; 1984; 165 Pt A():265-8. PubMed ID: 6720388
    [No Abstract]   [Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Fluorescent approaches to diagnosis of Lesch-Nyhan syndrome and quantitative analysis of carrier status.
    Mansfield ES; Blasband A; Kronick MN; Wrabetz L; Kaplan P; Rappaport E; Sartore M; Parrella T; Surrey S; Fortina P
    Mol Cell Probes; 1993 Aug; 7(4):311-24. PubMed ID: 8232348
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosis of Lesch-Nyhan heterozygotes by peripheral blood.
    Kamatani N; Yamanaka H; Nishioka K; Nishida Y; Mikanagi K
    Adv Exp Med Biol; 1986; 195 Pt A():157-62. PubMed ID: 3728148
    [No Abstract]   [Full Text] [Related]  

  • 16. Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.
    Marcus S; Steen AM; Andersson B; Lambert B; Kristoffersson U; Francke U
    Hum Genet; 1992 Jun; 89(4):395-400. PubMed ID: 1618489
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of a Japanese family with Lesch-Nyhan syndrome: identification of mutation and prenatal diagnosis.
    Yamada Y; Suzumori K; Tanemura M; Goto H; Ogasawara N
    Clin Genet; 1996 Sep; 50(3):164-7. PubMed ID: 8946118
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Complete and partial deficiency of HPRT].
    Ogasawara N
    Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular genetics of the HPRT-deficiency syndromes.
    Wilson JM; Kelley WN
    Hosp Pract (Off Ed); 1984 May; 19(5):81-9, 93-7, 100. PubMed ID: 6425346
    [No Abstract]   [Full Text] [Related]  

  • 20. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
    Aral B; de Saint Basile G; Al-Garawi S; Kamoun P; Ceballos-Picot I
    Hum Mutat; 1996; 7(1):52-8. PubMed ID: 8664901
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.