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 *

300 related articles for article (PubMed ID: 27079129)

  • 21. [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]  

  • 22. Hypoxanthine-guanine phosphoribosylotransferase deficiency--the spectrum of Polish mutations.
    Jurecka A; Popowska E; Tylki-Szymanska A; Kubalska J; Ciara E; Krumina Z; Sykut-Cegielska J; Pronicka E
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S447-51. PubMed ID: 19016344
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
    Cossu A; Micheli V; Jacomelli G; Carcassi A
    Clin Exp Rheumatol; 2002; 20(6):851-3. PubMed ID: 12508781
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. [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]  

  • 28. Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.
    Roche A; Pérez-Dueñas B; Camacho JA; Torres RJ; Puig JG; García-Cazorla A; Artuch R
    Am J Kidney Dis; 2009 Apr; 53(4):677-80. PubMed ID: 18992978
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
    Nyhan WL
    J Inherit Metab Dis; 1997 Jun; 20(2):171-8. PubMed ID: 9211189
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
    Shields LBE; Peppas DS; Rosenberg E
    BMC Pediatr; 2018 Jul; 18(1):231. PubMed ID: 30001695
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
    Zoref-Shani E; Bromberg Y; Hirsch J; Feinstein S; Frishberg Y; Sperling O
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1165-8. PubMed ID: 15571222
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Determination of Activity of the Enzymes Hypoxanthine Phosphoribosyl Transferase (HPRT) and Adenine Phosphoribosyl Transferase (APRT) in Blood Spots on Filter Paper.
    Auler K; Broock R; Nyhan WL
    Curr Protoc Hum Genet; 2015 Jul; 86():17.19.1-17.19.10. PubMed ID: 26132002
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
    Rinat C; Zoref-Shani E; Ben-Neriah Z; Bromberg Y; Becker-Cohen R; Feinstein S; Sperling O; Frishberg Y
    Mol Genet Metab; 2006 Mar; 87(3):249-52. PubMed ID: 16343967
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome.
    Oh MM; Ham BK; Kang SH; Bae JH; Kim JJ; Yoo KH; Yoon DK; Moon du G
    Urol Res; 2011 Oct; 39(5):417-9. PubMed ID: 21331772
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 15.