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 *

149 related articles for article (PubMed ID: 17062485)

  • 21. A novel de novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRT OSAKA).
    Yamada Y; Goto H; Shiomi M; Yamamoto T; Higashino K; Ogasawara N
    Jpn J Hum Genet; 1996 Dec; 41(4):427-30. PubMed ID: 9088115
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase presenting seizure and psychomotor retardation: a case report].
    Yoshimoto T; Himeno T; Takeshima S; Neshige S; Yamada K; Yamada Y; Kuriyama M
    Rinsho Shinkeigaku; 2014; 54(11):892-6. PubMed ID: 25420563
    [TBL] [Abstract][Full Text] [Related]  

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

  • 24. Lesch-Nyhan Syndrome: report on two brothers.
    Yang MT; Mak SC; Chi CS; Lin HY; Lii YP; Wu KH; Shian WJ
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1994; 35(6):552-8. PubMed ID: 7831990
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Self-mutilation behaviour in Lesch-Nyhan syndrome.
    Cauwels RG; Martens LC
    J Oral Pathol Med; 2005 Oct; 34(9):573-5. PubMed ID: 16138897
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel mutations in the human HPRT gene.
    Nguyen KV; Naviaux RK; Paik KK; Nyhan WL
    Nucleosides Nucleotides Nucleic Acids; 2011 Jun; 30(6):440-5. PubMed ID: 21780909
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].
    Yamada Y
    Nihon Rinsho; 2008 Apr; 66(4):687-93. PubMed ID: 18409516
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations.
    Bertelli M; Randi D; Micheli V; Gallo S; Andrighetto G; Parmigiani P; Jacomelli G; Carella M; Lievore C; Pandolfo M
    J Inherit Metab Dis; 2004; 27(6):767-73. PubMed ID: 15505382
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Rare variant of Lesch-Nyhan syndrome without self-mutilation or nephrolithiasis.
    Kersnik Levart T
    Pediatr Nephrol; 2007 Nov; 22(11):1975-8. PubMed ID: 17680274
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice.
    Kuehn MR; Bradley A; Robertson EJ; Evans MJ
    Nature; 1987 Mar 19-25; 326(6110):295-8. PubMed ID: 3029599
    [TBL] [Abstract][Full Text] [Related]  

  • 32. HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
    Stur E; Reis RS; Agostini LP; Silva-Conforti AM; Louro ID
    Genet Mol Res; 2016 Jun; 15(2):. PubMed ID: 27420966
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis.
    Neychev VK; Mitev VI
    Med Hypotheses; 2004; 63(1):131-4. PubMed ID: 15193365
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular characterization and structure analysis of HPRT in a Chinese patient with Lesch-Nyhan disease.
    Jian WX; Peng WH; Li HL; Feng QW; Wang WX; Su Q
    Nucleosides Nucleotides Nucleic Acids; 2013; 32(4):189-95. PubMed ID: 24001192
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. Lesch-Nyhan syndrome: surgical treatment in a case with lip chewing. A case report.
    LaBanc J; Epker BN
    J Maxillofac Surg; 1981 Feb; 9(1):64-7. PubMed ID: 6939776
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome.
    Fujimori S; Davidson BL; Kelley WN; Palella TD
    J Clin Invest; 1989 Jan; 83(1):11-3. PubMed ID: 2910902
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene.
    Huang J; Zhang C; Guo Q; Zhang X; Ma L; Zhan Y; Chen Y
    Clin Lab; 2018 Jan; 64(1):197-200. PubMed ID: 29479880
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.
    Yamada Y; Nomura N; Yamada K; Wakamatsu N
    Mol Genet Metab; 2007 Jan; 90(1):70-6. PubMed ID: 17027311
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.