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2. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. De Gregorio L; Jinnah HA; Harris JC; Nyhan WL; Schretlen DJ; Trombley LM; O'Neill JP Mol Genet Metab; 2005 May; 85(1):70-7. PubMed ID: 15862283 [TBL] [Abstract][Full Text] [Related]
3. Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. O'Neill JP Genet Test; 2004; 8(1):51-64. PubMed ID: 15140374 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Complete and partial deficiency of HPRT]. Ogasawara N Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112 [TBL] [Abstract][Full Text] [Related]
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8. Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling? Schretlen DJ; Callon W; Ward RE; Fu R; Ho T; Gordon B; Harris JC; Jinnah HA J Inherit Metab Dis; 2016 Jan; 39(1):85-91. PubMed ID: 26067813 [TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
12. 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]
13. Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells. Hakoda M; Hirai Y; Akiyama M; Yamanaka H; Terai C; Kamatani N; Kashiwazaki S Hum Genet; 1995 Dec; 96(6):674-80. PubMed ID: 8522326 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome. Renwick PJ; Birley AJ; McKeown CM; Hultén M Clin Genet; 1995 Aug; 48(2):80-4. PubMed ID: 7586656 [TBL] [Abstract][Full Text] [Related]