These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

186 related articles for article (PubMed ID: 23232253)

  • 41. Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
    Narayanan DL; Srivastava P; Mandal K; Gambhir PS; Phadke SR
    Indian Pediatr; 2016 Feb; 53(2):134-6. PubMed ID: 26897145
    [TBL] [Abstract][Full Text] [Related]  

  • 42. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis.
    Sohn YB; Kim SJ; Park SW; Park HD; Ki CS; Kim CH; Huh SW; Yeau S; Paik KH; Jin DK
    Am J Med Genet A; 2010 Dec; 152A(12):3129-32. PubMed ID: 21108396
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome.
    Bonuccelli G; Regis S; Filocamo M; Corsolini F; Caroli F; Gatti R
    Clin Genet; 1998 Jun; 53(6):474-7. PubMed ID: 9712538
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.
    Karsten SL; Lagerstedt K; Carlberg BM; Kleijer WJ; Zaremba J; Van Diggelen OP; Czartoryska B; Pettersson U; Bondeson ML
    Genomics; 1997 Jul; 43(2):123-9. PubMed ID: 9244428
    [TBL] [Abstract][Full Text] [Related]  

  • 45. A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.
    Chou YY; Chao SC; Kuo PL; Lin SJ
    J Formos Med Assoc; 2005 Apr; 104(4):273-5. PubMed ID: 15909065
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: a consequence of twinning.
    Winchester B; Young E; Geddes S; Genet S; Hurst J; Middleton-Price H; Williams N; Webb M; Habel A; Malcolm S
    Am J Med Genet; 1992 Dec; 44(6):834-8. PubMed ID: 1481858
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing.
    Wei X; Jin F; Ye Y; Xu C; Qu N; Ju X; Yi X
    Clin Chim Acta; 2011 Nov; 412(23-24):2340-2. PubMed ID: 21910981
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).
    Popowska E; Rathmann M; Tylki-Szymanska A; Bunge S; Steglich C; Schwinger E; Gal A
    Hum Mutat; 1995; 5(1):97-100. PubMed ID: 7728156
    [No Abstract]   [Full Text] [Related]  

  • 49. Skewed X chromosome inactivation and breast and ovarian cancer status: evidence for X-linked modifiers of BRCA1.
    Lose F; Duffy DL; Kay GF; Kedda MA; Spurdle AB; ;
    J Natl Cancer Inst; 2008 Nov; 100(21):1519-29. PubMed ID: 18957670
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome.
    Liebaers I; Neufeld E
    Pediatr Res; 1976 Aug; 10(8):733-6. PubMed ID: 821034
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.
    Sukegawa K; Tomatsu S; Fukao T; Iwata H; Song XQ; Yamada Y; Fukuda S; Isogai K; Orii T
    Hum Mutat; 1995; 6(2):136-43. PubMed ID: 7581397
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations.
    Alves S; Mangas M; Prata MJ; Ribeiro G; Lopes L; Ribeiro H; Pinto-Basto J; Lima MR; Lacerda L
    J Inherit Metab Dis; 2006 Dec; 29(6):743-54. PubMed ID: 17063374
    [TBL] [Abstract][Full Text] [Related]  

  • 53. The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type II.
    Bonuccelli G; Di Natale P; Corsolini F; Villani G; Regis S; Filocamo M
    Biochim Biophys Acta; 2001 Nov; 1537(3):233-8. PubMed ID: 11731225
    [TBL] [Abstract][Full Text] [Related]  

  • 54. A novel iduronate 2-sulfatase mutation in a Chinese family with mucopolysaccharidosis type II.
    Li XY; Shi XY; Ju J; Hu XH; Yang XF; Zou LP
    World J Pediatr; 2012 Aug; 8(3):281-3. PubMed ID: 22622771
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
    Rathmann M; Bunge S; Beck M; Kresse H; Tylki-Szymanska A; Gal A
    Am J Hum Genet; 1996 Dec; 59(6):1202-9. PubMed ID: 8940265
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Novel use of limited primer extension in detecting mutations in human iduronate 2-sulfatase gene.
    Li P; Moore JF; Thompson JN
    Biochem Mol Biol Int; 1995 May; 35(6):1299-305. PubMed ID: 7492967
    [TBL] [Abstract][Full Text] [Related]  

  • 57. The clinical phenotype of two patients with a complete deletion of the iduronate-2-sulphatase gene (mucopolysaccharidosis II--Hunter syndrome).
    Wraith JE; Cooper A; Thornley M; Wilson PJ; Nelson PV; Morris CP; Hopwood JJ
    Hum Genet; 1991 Jun; 87(2):205-6. PubMed ID: 1906048
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene.
    Whitley CB; Anderson RA; Aronovich EL; Crotty PL; Anyane-Yeboa K; Russo D; Warburton D
    Hum Mutat; 1993; 2(3):235-7. PubMed ID: 8364592
    [No Abstract]   [Full Text] [Related]  

  • 59. Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene.
    Mossman J; Blunt S; Stephens R; Jones EE; Pembrey M
    Arch Dis Child; 1983 Nov; 58(11):911-5. PubMed ID: 6418082
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.
    Zhang H; Li J; Zhang X; Wang Y; Qiu W; Ye J; Han L; Gao X; Gu X
    PLoS One; 2011; 6(8):e22951. PubMed ID: 21829674
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.