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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

479 related items for PubMed ID: 16287098

  • 1. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).
    Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T.
    Hum Mutat; 2005 Dec; 26(6):500-12. PubMed ID: 16287098
    [Abstract] [Full Text] [Related]

  • 2. Molecular analysis of Turkish mucopolysaccharidosis IVA (Morquio A) patients: identification of novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene.
    Terzioglu M, Tokatli A, Coskun T, Emre S.
    Hum Mutat; 2002 Dec; 20(6):477-8. PubMed ID: 12442278
    [Abstract] [Full Text] [Related]

  • 3. 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; 24(2):187-8. PubMed ID: 15241807
    [Abstract] [Full Text] [Related]

  • 4. [Mucopolysaccharidosis IVA (Morquio A syndrome): clinical, biological and therapeutic aspects].
    Bouzidi H, Khedhiri S, Laradi S, Ferchichi S, Daudon M, Miled A.
    Ann Biol Clin (Paris); 2007 Aug; 65(1):5-11. PubMed ID: 17264033
    [Abstract] [Full Text] [Related]

  • 5. Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
    Laradi S, Tukel T, Khediri S, Shabbeer J, Erazo M, Chkioua L, Chaabouni M, Ferchichi S, Miled A, Desnick RJ.
    Mol Genet Metab; 2006 Mar; 87(3):213-8. PubMed ID: 16378744
    [Abstract] [Full Text] [Related]

  • 6. 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 Mar; 11(3):202-8. PubMed ID: 9521421
    [Abstract] [Full Text] [Related]

  • 7. Murine model (Galns(tm(C76S)slu)) of MPS IVA with missense mutation at the active site cysteine conserved among sulfatase proteins.
    Tomatsu S, Vogler C, Montaño AM, Gutierrez M, Oikawa H, Dung VC, Orii T, Noguchi A, Sly WS.
    Mol Genet Metab; 2007 Jul; 91(3):251-8. PubMed ID: 17498992
    [Abstract] [Full Text] [Related]

  • 8. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene.
    Tomatsu S, Fukuda S, Cooper A, Wraith JE, Ferreira P, Di Natale P, Tortora P, Fujimoto A, Kato Z, Yamada N, Isogai K, Yamagishi A, Sukegawa K, Suzuki Y, Shimozawa N, Kondo N, Sly WS, Orii T.
    Hum Mutat; 1997 Jul; 10(5):368-75. PubMed ID: 9375852
    [Abstract] [Full Text] [Related]

  • 9. Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
    Dũng VC, Tomatsu S, Montaño AM, Gottesman G, Bober MB, Mackenzie W, Maeda M, Mitchell GA, Suzuki Y, Orii T.
    Mol Genet Metab; 2013 Jul; 110(1-2):129-38. PubMed ID: 23876334
    [Abstract] [Full Text] [Related]

  • 10. Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.
    Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS.
    Hum Mol Genet; 2003 Dec 15; 12(24):3349-58. PubMed ID: 14583446
    [Abstract] [Full Text] [Related]

  • 11. Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
    Fateen EM, El Mawgoud HA, Eissa NR, Ibrahim MM, Aglan MS, Essawi ML.
    Gene; 2017 Feb 05; 600():48-54. PubMed ID: 27825773
    [Abstract] [Full Text] [Related]

  • 12. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.
    Tomatsu S, Montaño AM, Lopez P, Trandafirescu G, Gutierrez MA, Oikawa H, Nishioka T, Vieira MB, Orii T, Noguchi A.
    Mol Genet Metab; 2006 Feb 05; 89(1-2):139-49. PubMed ID: 16837223
    [Abstract] [Full Text] [Related]

  • 13. 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 05; 62(1):38-40. PubMed ID: 24411403
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1.
    Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA.
    FEBS J; 2010 Sep 28; 277(17):3608-19. PubMed ID: 20716181
    [Abstract] [Full Text] [Related]

  • 16. Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
    Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L.
    Hum Mol Genet; 2005 Nov 15; 14(22):3321-35. PubMed ID: 16219627
    [Abstract] [Full Text] [Related]

  • 17. Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
    Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N.
    Mol Genet Metab; 2014 Jun 15; 112(2):160-70. PubMed ID: 24726177
    [Abstract] [Full Text] [Related]

  • 18. Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations.
    Khedhiri S, Chkioua L, Bouzidi H, Dandana A, Ferchichi S, Ben Turkia H, Miled A, Laradi S.
    Pathol Biol (Paris); 2012 Jun 15; 60(3):190-2. PubMed ID: 22078177
    [Abstract] [Full Text] [Related]

  • 19. Morquio A syndrome: cloning, sequence, and structure of the human N-acetylgalactosamine 6-sulfatase (GALNS) gene.
    Morris CP, Guo XH, Apostolou S, Hopwood JJ, Scott HS.
    Genomics; 1994 Aug 15; 22(3):652-4. PubMed ID: 8001980
    [Abstract] [Full Text] [Related]

  • 20. [Morquio A disease: clinical and molecular study of Tunisian patients].
    Khedhiri S, Chkioua L, Ferchichi S, Miled A, Laradi S.
    Ann Biol Clin (Paris); 2011 Aug 15; 69(4):425-9. PubMed ID: 21896407
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 24.