134 related articles for article (PubMed ID: 9122079)
1. What syndrome is this? Lesch-Nyhan syndrome.
Schepis C; Greco D; Siragusa M; Romano C
Pediatr Dermatol; 1996; 13(2):169-70. PubMed ID: 9122079
[No Abstract] [Full Text] [Related]
2. Prenatal diagnosis of HPRT mutant genes in Lesch-Nyhan syndrome.
Yamada Y; Goto H; Suzumori K; Ogasawara N
Adv Exp Med Biol; 1998; 431():211-4. PubMed ID: 9598061
[No Abstract] [Full Text] [Related]
3. [Sex-related neurologic diseases. Hunter's disease. Lesch-Nyhan syndrome].
Nieto Barrera M
An Esp Pediatr; 1984 Oct; 21 Suppl 20():47-50. PubMed ID: 6440462
[No Abstract] [Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Identification of a new Lesch-Nyhan syndrome mutation (HPRTBrasil) and analysis of potentially heterozygous females.
O'Neill P; Trombley L; Gundel M; Hunter T; Nicklas JA; Ferreira ML; Bugallo MJ; Farias AC; Lohr A; Diamantopoulos M; Raskin S
Arq Neuropsiquiatr; 1999 Dec; 57(4):907-11. PubMed ID: 10683677
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.
Torres RJ; Puig JG; Ceballos-Picot I
Eur J Hum Genet; 2013 Oct; 21(10):. PubMed ID: 23321622
[No Abstract] [Full Text] [Related]
10. Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment?
Fu R; Jinnah HA
Arch Neurol; 2011 Feb; 68(2):270; author reply 270-1. PubMed ID: 21321001
[No Abstract] [Full Text] [Related]
11. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
Nguyen KV; Naviaux RK; Nyhan WL
Nucleosides Nucleotides Nucleic Acids; 2017 Nov; 36(11):704-711. PubMed ID: 29185864
[TBL] [Abstract][Full Text] [Related]
12. Advances in the study of inherited metabolic disease.
Gibbs DA
J Inherit Metab Dis; 1989; 12(2):240-6. PubMed ID: 2569050
[No Abstract] [Full Text] [Related]
13. HPRT-mutations in Italian Lesch-Nyhan patients.
Gathof BS; Rocchigiani M; Micheli V; Gaigl Z; Gresser U
Adv Exp Med Biol; 1998; 431():151-3. PubMed ID: 9598049
[No Abstract] [Full Text] [Related]
14. Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.
Yamada Y; Nomura N; Kitoh H; Wakamatsu N; Ogasawara N
Adv Exp Med Biol; 2000; 486():29-33. PubMed ID: 11783502
[No Abstract] [Full Text] [Related]
15. Lesch Nyhan syndrome: a novel complex mutation in a Tunisian child.
Rebai I; Kraoua I; Benrhouma H; Rouissi A; Turki I; Ceballos-Picot I; Gouider-Khouja N
Brain Dev; 2014 Nov; 36(10):921-3. PubMed ID: 24503445
[TBL] [Abstract][Full Text] [Related]
16. Clinical utility gene card for: Lesch-Nyhan syndrome.
Torres RJ; Puig JG; Ceballos-Picot I
Eur J Hum Genet; 2011 Jan; 19(1):preceeding 118-20. PubMed ID: 20648055
[No Abstract] [Full Text] [Related]
17. The Lesch-Nyhan syndrome: clinical, molecular and genetic aspects.
Stout JT; Caskey CT
Trends Genet; 1988 Jun; 4(6):175-8. PubMed ID: 3076300
[No Abstract] [Full Text] [Related]
18. 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]
19. HPRT deficiency in a two-month-old child presenting acute renal failure and gout with a new deletion of two bases in exon 3 of the HPRT gene.
Zamora A; Escárcega RO; Vazquez R; Zamora A; O'Neill JP
Arch Med Res; 2007 May; 38(4):460-2. PubMed ID: 17416296
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
