BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

163 related articles for article (PubMed ID: 12618088)

  • 21. 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]  

  • 22. 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]  

  • 23. Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation.
    Fattal A; Spirer Z; Zoref-Shani E; Sperling O
    Enzyme; 1984; 31(1):55-60. PubMed ID: 6201351
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Diminished affinity for purine substrates as a basis for gout with mild deficiency of hypoxanthine-guanine phosphoribosyltransferase.
    Sweetman L; Borden M; Lesh P; Bakay B; Becker MA
    Adv Exp Med Biol; 1977; 76A():319-25. PubMed ID: 558714
    [No Abstract]   [Full Text] [Related]  

  • 25. 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]  

  • 26. Detection of a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase gene in human oocytes and preimplantation embryos: implications for a RT-PCR-based preimplantation diagnosis of Lesch-Nyhan syndrome.
    Daniels R; Adjaye J; Bolton V; Monk M
    Mol Hum Reprod; 1998 Aug; 4(8):785-9. PubMed ID: 9733436
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Normal HPRT coding region in complete and partial HPRT deficiency.
    García MG; Torres RJ; Prior C; Puig JG
    Mol Genet Metab; 2008 Jun; 94(2):167-72. PubMed ID: 18316217
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.
    Sculley DG; Dawson PA; Emmerson BT; Gordon RB
    Hum Genet; 1992 Nov; 90(3):195-207. PubMed ID: 1487231
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [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]  

  • 33. Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
    Zoref-Shani E; Feinstein S; Frishberg Y; Bromberg Y; Sperling O
    Biochim Biophys Acta; 2000 Feb; 1500(2):197-203. PubMed ID: 10657589
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.
    Bouwens-Rombouts AG; van den Boogaard MJ; Puig JG; Mateos FA; Hennekam RC; Tilanus MG
    Hum Genet; 1993 Jun; 91(5):451-4. PubMed ID: 8314557
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Hasegawa H; Shinohara Y; Nozaki S; Nakamura M; Oh K; Namiki O; Suzuki K; Nakahara A; Miyazawa M; Ishikawa K; Himeno T; Yoshida S; Ueda T; Yamada Y; Ichida K
    J Chromatogr B Analyt Technol Biomed Life Sci; 2015 Jan; 976-977():55-60. PubMed ID: 25482009
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Molecular genetics of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.
    Wilson JM; Kelley WN
    Arch Intern Med; 1985 Oct; 145(10):1895-1900. PubMed ID: 3899038
    [No Abstract]   [Full Text] [Related]  

  • 38. Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Torres RJ; Puente S; Menendez A; Fernandez-Garcia N
    Clin Chim Acta; 2017 Sep; 472():136-138. PubMed ID: 28782500
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
    Puig JG; Torres RJ; Mateos FA; Ramos TH; Arcas JM; Buño AS; O'Neill P
    Medicine (Baltimore); 2001 Mar; 80(2):102-12. PubMed ID: 11307586
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 9.