366 related articles for article (PubMed ID: 11668636)
1. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
Mizunuma M; Fujimori S; Ogino H; Ueno T; Inoue H; Kamatani N
Hum Mutat; 2001 Nov; 18(5):435-43. PubMed ID: 11668636
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Molecular characterization of two deletion events involving Alu-sequences, one novel base substitution and two tentative hotspot mutations in the hypoxanthine phosphoribosyltransferase (HPRT) gene in five patients with Lesch-Nyhan syndrome.
Tvrdik T; Marcus S; Hou SM; Fält S; Noori P; Podlutskaja N; Hanefeld F; Strømme P; Lambert B
Hum Genet; 1998 Sep; 103(3):311-8. PubMed ID: 9799086
[TBL] [Abstract][Full Text] [Related]
4. Molecular characterization of a deletion in the HPRT1 gene in a patient with Lesch-Nyhan syndrome.
Taniguchi A; Yamada Y; Hakoda M; Sekita C; Kawamoto M; Kaneko H; Yamanaka H
Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1266-71. PubMed ID: 22132985
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.
Torres RJ; Mateos FA; Molano J; Gathoff BS; O'Neill JP; Gundel RM; Trombley L; Puig JG
Hum Mutat; 2000 Apr; 15(4):383. PubMed ID: 10737990
[TBL] [Abstract][Full Text] [Related]
7. Disruption of the hypoxanthine-guanine phosphoribosyl-transferase gene caused by a translocation in a patient with Lesch-Nyhan syndrome.
Mizunuma M; Yamada Y; Yamada K; Sonta S; Wakamatsu N; Kaneko K; Ogasawara N; Fujimori S
Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1173-6. PubMed ID: 15571224
[TBL] [Abstract][Full Text] [Related]
8. Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597(insertion mark)598insIVS4).
Abed AA; Günther K; Kraus C; Hohenberger W; Ballhausen WG
Hum Mutat; 2001 Nov; 18(5):397-410. PubMed ID: 11668633
[TBL] [Abstract][Full Text] [Related]
9. Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease.
Brooks EM; Branda RF; Nicklas JA; O'Neill JP
Mutat Res; 2001 May; 476(1-2):43-54. PubMed ID: 11336982
[TBL] [Abstract][Full Text] [Related]
10. Homeologous recombination between AluSx-sequences as a cause of hemophilia.
Rossetti LC; Goodeve A; Larripa IB; De Brasi CD
Hum Mutat; 2004 Nov; 24(5):440. PubMed ID: 15459970
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nguyen KV; Silva S; Troncoso M; Naviaux RK; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2017 Jul; 36(7):452-462. PubMed ID: 28524722
[TBL] [Abstract][Full Text] [Related]
13. Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome.
Edwards A; Gibbs RA; Nguyen PN; Ansorge W; Caskey CT
Trans Assoc Am Physicians; 1989; 102():185-94. PubMed ID: 2638525
[No Abstract] [Full Text] [Related]
14. Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome.
Marcus S; Christensen E; Malm G
Hum Mutat; 1993; 2(6):473-7. PubMed ID: 8111415
[TBL] [Abstract][Full Text] [Related]
15. Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells.
Urbach A; Schuldiner M; Benvenisty N
Stem Cells; 2004; 22(4):635-41. PubMed ID: 15277709
[TBL] [Abstract][Full Text] [Related]
16. Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.
Yamada Y; Yamada K; Sonta S; Wakamatsu N; Ogasawara N
Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1169-72. PubMed ID: 15571223
[TBL] [Abstract][Full Text] [Related]
17. Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
Meili D; Kralovicova J; Zagalak J; Bonafé L; Fiori L; Blau N; Thöny B; Vorechovsky I
Hum Mutat; 2009 May; 30(5):823-31. PubMed ID: 19280650
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Screening for molecular pathologies in Lesch-Nyhan syndrome.
Boyd M; Lanyon WG; Connor JM
Hum Mutat; 1993; 2(2):127-30. PubMed ID: 8318989
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
Yamada Y; Yamada K; Nomura N; Yamano A; Kimura R; Naiki M; Fukushi D; Wakamatsu N; Taniguchi A; Yamaoka N; Kaneko K; Fujimori S
Nucleosides Nucleotides Nucleic Acids; 2011 Dec; 30(12):1272-5. PubMed ID: 22132986
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
