275 related articles for article (PubMed ID: 8992857)
1. Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome.
Shimizu N; Konomi H; Arima M; Aoki T
Acta Paediatr Jpn; 1996 Feb; 38(1):36-40. PubMed ID: 8992857
[TBL] [Abstract][Full Text] [Related]
2. Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.
Sinnett D; Lavergne L; Melançon SB; Dallaire L; Potier M; Labuda D
Hum Genet; 1988 Dec; 81(1):4-8. PubMed ID: 2904404
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. [A Japanese family with Lesch-Nyhan syndrome resulting from a new point mutation in hypoxanthine-guanine phosphoribosyltransferase gene].
Maruta K; Ohi T; Yamada Y; Goto H; Ogasawara N; Matsukura S
No To Shinkei; 1997 Nov; 49(11):1009-13. PubMed ID: 9396032
[TBL] [Abstract][Full Text] [Related]
6. Molecular studies of hypoxanthine-guanine phosphoribosyltransferase mutations in six Australian families.
Gordon RB; Emmerson BT; Stout JT; Caskey CT
Aust N Z J Med; 1987 Aug; 17(4):424-9. PubMed ID: 3435320
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. An unexpected affected female patient in a classical Lesch-Nyhan family.
De Gregorio L; Nyhan WL; Serafin E; Chamoles NA
Mol Genet Metab; 2000 Mar; 69(3):263-8. PubMed ID: 10767182
[TBL] [Abstract][Full Text] [Related]
11. Genetic analysis of human hypoxanthine-guanine phosphoribosyltransferase deficiency.
Silverman LJ; Kelley WN; Palella TD
Enzyme; 1987; 38(1-4):36-44. PubMed ID: 2894305
[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. Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.
Yamada Y; Nomura N; Yamada K; Kimura R; Fukushi D; Wakamatsu N; Matsuda Y; Yamauchi T; Ueda T; Hasegawa H; Nakamura M; Ichida K; Kaneko K; Fujimori S
Nucleosides Nucleotides Nucleic Acids; 2014; 33(4-6):218-22. PubMed ID: 24940672
[TBL] [Abstract][Full Text] [Related]
14. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
Tohyama J; Nanba E; Ohno K
Hum Genet; 1994 Feb; 93(2):175-81. PubMed ID: 8112742
[TBL] [Abstract][Full Text] [Related]
15. Molecular analysis of Lesch-Nyhan syndrome found in Japan.
Ogura H; Tani K; Kanno H; Morisaki T; Ito M; Kubonishi S; Miyazaki K; Takeuchi T; Fujii H; Miwa S
Tohoku J Exp Med; 1988 May; 155(1):1-9. PubMed ID: 3413775
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular analysis of a female Lesch-Nyhan patient.
Ogasawara N; Stout JT; Goto H; Sonta S; Matsumoto A; Caskey CT
J Clin Invest; 1989 Sep; 84(3):1024-7. PubMed ID: 2760209
[TBL] [Abstract][Full Text] [Related]
18. Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).
Yamada Y; Goto H; Tamura S; Ogasawara N
Jpn J Hum Genet; 1993 Dec; 38(4):413-9. PubMed ID: 8186419
[TBL] [Abstract][Full Text] [Related]
19. [Complete and partial deficiency of HPRT].
Ogasawara N
Nihon Rinsho; 1996 Dec; 54(12):3315-20. PubMed ID: 8976112
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
