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Journal Abstract Search

85 related items for PubMed ID: 6227239

  • 1. Carrier detection in Hunter syndrome.
    Archer IM, Young ID, Rees DW, Oladimeji A, Wusteman FS, Harper PS.
    Am J Med Genet; 1983 Sep; 16(1):61-9. PubMed ID: 6227239
    [Abstract] [Full Text] [Related]

  • 2. Heterozygote detection in Hunter syndrome.
    Zlotogora J, Bach G.
    Am J Med Genet; 1984 Mar; 17(3):661-5. PubMed ID: 6424473
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
    Lin SP, Chang JH, Lee-Chen GJ, Lin DS, Lin HY, Chuang CK.
    Clin Chim Acta; 2006 Jul 15; 369(1):29-34. PubMed ID: 16480701
    [Abstract] [Full Text] [Related]

  • 5. Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
    Yutaka T, Fluharty AL, Stevens RL, Kihara H.
    Am J Hum Genet; 1978 Nov 15; 30(6):575-82. PubMed ID: 106723
    [Abstract] [Full Text] [Related]

  • 6. [Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis].
    Balzano N, Villani GR, Coppa G, Di Natale P.
    Pediatr Med Chir; 1996 Nov 15; 18(1):91-3. PubMed ID: 8685031
    [Abstract] [Full Text] [Related]

  • 7. An improved assay for iduronate 2-sulphate sulphatase in serum and its use in the detection of carriers of the Hunter syndrome.
    Archer IM, Harper PS, Wusteman FS.
    Clin Chim Acta; 1981 Apr 27; 112(1):107-12. PubMed ID: 6786801
    [Abstract] [Full Text] [Related]

  • 8. Detection of hunter heterozygotes by enzymatic analysis of hair roots.
    Nwokoro N, Neufeld EF.
    Am J Hum Genet; 1979 Jan 27; 31(1):42-9. PubMed ID: 107796
    [Abstract] [Full Text] [Related]

  • 9. Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: identification of an apparent case of germinal mosaicism.
    Ben Simon-Schiff E, Bach G, Zlotogora J, Abeliovich D.
    Am J Med Genet; 1993 Nov 01; 47(6):837-42. PubMed ID: 7904121
    [Abstract] [Full Text] [Related]

  • 10. Mutation analysis of iduronate-2-sulphatase gene in 24 patients with Hunter syndrome: characterisation of 6 novel mutations. Mutation in brief no. 249. Online.
    Hartog C, Fryer A, Upadhyaya M.
    Hum Mutat; 1999 Nov 01; 14(1):87. PubMed ID: 10447264
    [Abstract] [Full Text] [Related]

  • 11. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
    Sukegawa K, Song XQ, Masuno M, Fukao T, Shimozawa N, Fukuda S, Isogai K, Nishio H, Matsuo M, Tomatsu S, Kondo N, Orii T.
    Hum Mutat; 1997 Nov 01; 10(5):361-7. PubMed ID: 9375851
    [Abstract] [Full Text] [Related]

  • 12. Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state.
    Neufeld EF, Liebaers I, Lim TW.
    Adv Exp Med Biol; 1976 Nov 01; 68():253-60. PubMed ID: 820168
    [No Abstract] [Full Text] [Related]

  • 13. Hunter's syndrome: activity of iduronate sulfate sulfatase in the serum of pregnant heterozygotes.
    Zlotogora J, Bach G.
    N Engl J Med; 1984 Aug 02; 311(5):331-2. PubMed ID: 6429538
    [No Abstract] [Full Text] [Related]

  • 14. Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis.
    Chase DS, Morris AH, Ballabio A, Pepper S, Giannelli F, Adinolfi M.
    Ann Hum Genet; 1986 Oct 02; 50(4):349-60. PubMed ID: 3126700
    [Abstract] [Full Text] [Related]

  • 15. Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.
    Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A.
    Hum Mutat; 1993 Oct 02; 2(6):435-42. PubMed ID: 8111411
    [Abstract] [Full Text] [Related]

  • 16. 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 Oct 02; 6(2):136-43. PubMed ID: 7581397
    [Abstract] [Full Text] [Related]

  • 17. 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 Oct 02; 5(1):97-100. PubMed ID: 7728156
    [No Abstract] [Full Text] [Related]

  • 18. Biochemical and molecular analysis in a patient with the severe form of Hunter syndrome after bone marrow transplantation.
    Li P, Thompson JN, Hug G, Huffman P, Chuck G.
    Am J Med Genet; 1996 Sep 06; 64(4):531-5. PubMed ID: 8870917
    [Abstract] [Full Text] [Related]

  • 19. An 8-bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease.
    Goldenfum S, Malcolm S, Winchester B.
    Hum Mol Genet; 1993 Jul 06; 2(7):1063-5. PubMed ID: 8364547
    [No Abstract] [Full Text] [Related]

  • 20. Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.
    Gal A, Beck M, Sewell AC, Morris CP, Schwinger E, Hopwood JJ.
    J Inherit Metab Dis; 1992 Jul 06; 15(3):342-6. PubMed ID: 1357230
    [No Abstract] [Full Text] [Related]

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