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Journal Abstract Search

210 related items for PubMed ID: 8001980

  • 21. Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
    Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A.
    BMC Med Genet; 2018 Oct 11; 19(1):183. PubMed ID: 30305043
    [Abstract] [Full Text] [Related]

  • 22. 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 11; 60(3):190-2. PubMed ID: 22078177
    [Abstract] [Full Text] [Related]

  • 23. 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 Jun 11; 7(2):123-34. PubMed ID: 8829629
    [Abstract] [Full Text] [Related]

  • 24. 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 11; 112(2):160-70. PubMed ID: 24726177
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.
    Lee PL, Gelbart T, West C, Halloran C, Beutler E.
    Blood Cells Mol Dis; 1998 Jun 10; 24(2):199-215. PubMed ID: 9642100
    [Abstract] [Full Text] [Related]

  • 27. Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).
    Hori T, Tomatsu S, Nakashima Y, Uchiyama A, Fukuda S, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Horiuchi T.
    Genomics; 1995 Apr 10; 26(3):535-42. PubMed ID: 7607677
    [Abstract] [Full Text] [Related]

  • 28. 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 Apr 10; 10(5):368-75. PubMed ID: 9375852
    [Abstract] [Full Text] [Related]

  • 29. [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 Apr 10; 69(4):425-9. PubMed ID: 21896407
    [Abstract] [Full Text] [Related]

  • 30. Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region.
    Tong JH, Fant X, Benoit G, Chen SJ, Chen Z, Lanotte M.
    Genomics; 2000 Nov 01; 69(3):380-90. PubMed ID: 11056056
    [Abstract] [Full Text] [Related]

  • 31. Porcine N-acetylgalactosamine 6-sulfatase (GALNS) cDNA sequence and expression in developing teeth.
    Yamakoshi Y, Hu JC, Liu S, Sun X, Zhang C, Oida S, Fukae M, Simmer JP.
    Connect Tissue Res; 2002 Nov 01; 43(2-3):167-75. PubMed ID: 12489154
    [Abstract] [Full Text] [Related]

  • 32. Morquio A syndrome due to maternal uniparental isodisomy of the telomeric end of chromosome 16.
    Catarzi S, Giunti L, Papadia F, Gabrielli O, Guerrini R, Donati MA, Genuardi M, Morrone A.
    Mol Genet Metab; 2012 Mar 01; 105(3):438-42. PubMed ID: 22178352
    [Abstract] [Full Text] [Related]

  • 33. Polymorphism in the GALNS gene.
    Tomatsu S, Fukuda S, Iwata H, Ogawa T, Sukegawa K, Orii T.
    Hum Mol Genet; 1994 Jul 01; 3(7):1208. PubMed ID: 7981704
    [No Abstract] [Full Text] [Related]

  • 34. Novel missense mutation in the GALNS gene in an affected patient with severe form of mucopolysaccharidosis type IVA.
    Seyedhassani SM, Hashemi-Gorji F, Yavari M, Mirfakhraie R.
    Clin Chim Acta; 2015 Oct 23; 450():121-4. PubMed ID: 26276046
    [Abstract] [Full Text] [Related]

  • 35. 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]

  • 36. Mucopolysaccharidosis type IVA. N-acetylgalactosamine-6-sulfate sulfatase exonic point mutations in classical Morquio and mild cases.
    Fukuda S, Tomatsu S, Masue M, Sukegawa K, Iwata H, Ogawa T, Nakashima Y, Hori T, Yamagishi A, Hanyu Y.
    J Clin Invest; 1992 Sep 20; 90(3):1049-53. PubMed ID: 1522213
    [Abstract] [Full Text] [Related]

  • 37. Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype-phenotype correlation for Morquio A.
    Olarte-Avellaneda S, Rodríguez-López A, Alméciga-Díaz CJ, Barrera LA.
    Mol Biol Rep; 2014 Nov 20; 41(11):7073-88. PubMed ID: 25287660
    [Abstract] [Full Text] [Related]

  • 38. Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome.
    Bunge S, Kleijer WJ, Tylki-Szymanska A, Steglich C, Beck M, Tomatsu S, Fukuda S, Poorthuis BJ, Czartoryska B, Orii T, Gal A.
    Hum Mutat; 1997 Nov 20; 10(3):223-32. PubMed ID: 9298823
    [Abstract] [Full Text] [Related]

  • 39. Elosulfase alfa.
    Haddley K.
    Drugs Today (Barc); 2014 Jul 20; 50(7):475-83. PubMed ID: 25101330
    [Abstract] [Full Text] [Related]

  • 40. Characterization and pharmacokinetic study of recombinant human N-acetylgalactosamine-6-sulfate sulfatase.
    Tomatsu S, Montaño AM, Gutierrez M, Grubb JH, Oikawa H, Dung VC, Ohashi A, Nishioka T, Yamada M, Yamada M, Tosaka Y, Trandafirescu GG, Orii T.
    Mol Genet Metab; 2007 May 20; 91(1):69-78. PubMed ID: 17336563
    [Abstract] [Full Text] [Related]

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