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164 related items for PubMed ID: 7532616

  • 1. Mucopolysaccharidosis IVA: polymorphic haplotypes and informative RFLPs in the Japanese population.
    Iwata H, Tomatsu S, Fukuda S, Uchiyama A, Rezvi GM, Ogawa T, Hori T, Nakashima Y, Yamagishi A, Sukegawa K.
    Hum Genet; 1995 Mar; 95(3):257-64. PubMed ID: 7532616
    [Abstract] [Full Text] [Related]

  • 2. Mucopolysaccharidosis IVA: a comparative study of polymorphic DNA haplotypes in the Caucasian and Japanese populations.
    Rezvi GM, Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JE, Iwata H, Kato Z, Yamada N, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Orii T.
    J Inherit Metab Dis; 1996 Mar; 19(3):301-8. PubMed ID: 8803772
    [Abstract] [Full Text] [Related]

  • 3. Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations.
    Miserez AR, Schuster H, Chiodetti N, Keller U.
    Am J Hum Genet; 1993 Apr; 52(4):808-26. PubMed ID: 8096361
    [Abstract] [Full Text] [Related]

  • 4. [Analysis of GALNS gene mutation in thirty-eight Chinese patients with mucopolysaccharidosis type IVA].
    Ye J, Lei HL, Zhang HW, Qiu WJ, Han LS, Wang Y, Li XY, Gu XF.
    Zhonghua Er Ke Za Zhi; 2013 Jun; 51(6):414-9. PubMed ID: 24120057
    [Abstract] [Full Text] [Related]

  • 5. Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.
    Yamada N, Fukuda S, Tomatsu S, Muller V, Hopwood JJ, Nelson J, Kato Z, Yamagishi A, Sukegawa K, Kondo N, Orii T.
    Hum Mutat; 1998 Jun; 11(3):202-8. PubMed ID: 9521421
    [Abstract] [Full Text] [Related]

  • 6. XhoI and SphI RFLPs in the GALNS gene.
    Tomatsu S, Fukuda S, Iwata H, Ogawa T, Sukegawa K, Orii T.
    Hum Mol Genet; 1994 Jul; 3(7):1208. PubMed ID: 7981705
    [No Abstract] [Full Text] [Related]

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  • 8. Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Uchiyama A, Hori T, Nakashima Y, Yamada N, Sukegawa K, Kondo N.
    Hum Genet; 1995 Apr; 95(4):376-81. PubMed ID: 7705830
    [Abstract] [Full Text] [Related]

  • 9. Mucopolysaccharidosis IVA: submicroscopic deletion of 16q24.3 and a novel R386C mutation of N-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
    Fukuda S, Tomatsu S, Masuno M, Ogawa T, Yamagishi A, Rezvi GM, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Imaizumi K, Kuroki Y, Okabe T, Orii T.
    Hum Mutat; 1996 Apr; 7(2):123-34. PubMed ID: 8829629
    [Abstract] [Full Text] [Related]

  • 10. Heteroallelic missense mutations of the galactosamine-6-sulfate sulfatase (GALNS) gene in a mild form of Morquio disease (MPS IVA).
    Cole DE, Fukuda S, Gordon BA, Rip JW, LeCouteur AN, Rupar CA, Tomatsu S, Ogawa T, Sukegawa K, Orii T.
    Am J Med Genet; 1996 Jun 28; 63(4):558-65. PubMed ID: 8826435
    [Abstract] [Full Text] [Related]

  • 11. Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
    Chkioua L, Khedhiri S, Hafsi H, Grissa O, Ben Turkia H, Miled A, Laradi S, Froissart R, Alif N.
    Diagn Pathol; 2016 Jun 17; 11(1):51. PubMed ID: 27317439
    [Abstract] [Full Text] [Related]

  • 12. Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects.
    Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K.
    Clin Genet; 1993 Oct 17; 44(4):214-20. PubMed ID: 7903228
    [Abstract] [Full Text] [Related]

  • 13. Mucopolysaccharidosis IVA: identification of a common missense mutation I113F in the N-Acetylgalactosamine-6-sulfate sulfatase gene.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Rezvi GM, Yamagishi A, Yamada N, Kato Z, Isogai K, Sukegawa K.
    Am J Hum Genet; 1995 Sep 17; 57(3):556-63. PubMed ID: 7668283
    [Abstract] [Full Text] [Related]

  • 14. Molecular genetic assay of mucopolysaccharidosis IVA in South China.
    He D, Huang Y, Ou Z, Sheng H, Li S, Zhao X, Li R, Zheng J, Liu L.
    Gene; 2013 Dec 10; 532(1):46-52. PubMed ID: 24035930
    [Abstract] [Full Text] [Related]

  • 15. Polymorphisms in Tunisian patients with N-acetylgalactosamine-6-sulfate sulfatase gene deficiency: implication in Morquio A disease.
    Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.
    Diagn Pathol; 2011 Jan 20; 6():11. PubMed ID: 21251309
    [Abstract] [Full Text] [Related]

  • 16. A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA.
    Kato Z, Fukuda S, Tomatsu S, Vega H, Yasunaga T, Yamagishi A, Yamada N, Valencia A, Barrera LA, Sukegawa K, Orii T, Kondo N.
    Hum Genet; 1997 Nov 20; 101(1):97-101. PubMed ID: 9385378
    [Abstract] [Full Text] [Related]

  • 17. Polymorphic DNA haplotypes at the human low-density lipoprotein receptor gene locus in Koreans.
    Chae JJ, Kim SH, Kim UK, Hong SS, Kim YS, Namkoong Y, Park YB, Lee CC.
    Hum Biol; 2001 Feb 20; 73(1):105-19. PubMed ID: 11332639
    [Abstract] [Full Text] [Related]

  • 18. Molecular definition of red cell Rh haplotypes by tightly linked SphI RFLPs.
    Huang CH, Reid ME, Chen Y, Coghlan G, Okubo Y.
    Am J Hum Genet; 1996 Jan 20; 58(1):133-42. PubMed ID: 8554049
    [Abstract] [Full Text] [Related]

  • 19. Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.
    Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montaño AM, Yamaguchi S, Kondo N, Orii T, Noguchi A.
    Hum Mutat; 2004 Aug 20; 24(2):187-8. PubMed ID: 15241807
    [Abstract] [Full Text] [Related]

  • 20. Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients.
    Khedhiri S, Chkioua L, Elcioglu N, Laradi S, Miled A.
    Pathol Biol (Paris); 2014 Feb 20; 62(1):38-40. PubMed ID: 24411403
    [Abstract] [Full Text] [Related]

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