345 related articles for article (PubMed ID: 29185864)
21. 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]
22. Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.
Cho JH; Choi JH; Heo SH; Kim GH; Yum MS; Lee BH; Yoo HW
Metab Brain Dis; 2019 Oct; 34(5):1335-1340. PubMed ID: 31129767
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. 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]
26. 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]
27. Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.
Fu R; Sutcliffe D; Zhao H; Huang X; Schretlen DJ; Benkovic S; Jinnah HA
Mol Genet Metab; 2015 Jan; 114(1):55-61. PubMed ID: 25481104
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Abnormalities of neural stem cells in Lesch-Nyhan disease.
Dinasarapu AR; Sutcliffe DJ; Seifar F; Visser JE; Jinnah HA
J Neurogenet; 2022; 36(2-3):81-87. PubMed ID: 36226509
[TBL] [Abstract][Full Text] [Related]
31. Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrier of an HPRT1 mutation responsible for Lesch-Nyhan syndrome.
Rivero MB; Olicio R; Lima CR; Bonvicino CR; Moreira MA; Llerena JC; Seuánez HN
Am J Med Genet; 2001 Sep; 103(1):48-55. PubMed ID: 11562934
[TBL] [Abstract][Full Text] [Related]
32. A female case of the Leach-Nyhan syndrome.
Hara K; Kashiwamata S; Ogasawara N; Ohishi H; Natsume R; Yamanaka T; Hakamada S; Miyazaki S; Watanabe K
Tohoku J Exp Med; 1982 Jul; 137(3):275-82. PubMed ID: 7112549
[TBL] [Abstract][Full Text] [Related]
33. Prenatal diagnosis based on HPRT1 gene mutation in a Lesch-Nyhan family.
Liu N; Zhuo ZH; Wang HL; Kong XD; Shi HR; Wu QH; Jiang M
J Obstet Gynaecol; 2015; 35(5):490-3. PubMed ID: 25547367
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. A germ line mutation within the coding sequence for the putative 5-phosphoribosyl-1-pyrophosphate binding site of hypoxanthine-guanine phosphoribosyltransferase (HPRT) in a Lesch-Nyhan patient: missense mutations within a functionally important region probably cause disease.
Fujimori S; Tagaya T; Kamatani N; Akaoka I
Hum Genet; 1992 Dec; 90(4):385-8. PubMed ID: 1282899
[TBL] [Abstract][Full Text] [Related]
36. A novel mutation in HPRT1 gene causing variant form of Lesch-Nyhan disease.
Borlot F; Aquino CC; Zoratti SR; de Araújo JD; Kulikowski LD; Kim CA
Pediatr Neurol; 2013 Aug; 49(2):e5-7. PubMed ID: 23859867
[No Abstract] [Full Text] [Related]
37. Lesch-Nyhan syndrome in an Indian family with novel mutation in the HPRT1 gene.
Sharma S; Jiménez RT; Aneja S; Garcia MG; Sethi GR
Indian J Pediatr; 2012 Nov; 79(11):1520-2. PubMed ID: 22183764
[TBL] [Abstract][Full Text] [Related]
38. Quantification of various APP-mRNA isoforms and epistasis in Lesch-Nyhan disease.
Nguyen KV; Nyhan WL
Neurosci Lett; 2017 Mar; 643():52-58. PubMed ID: 28192196
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. 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]
[Previous] [Next] [New Search]
