BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

377 related articles for article (PubMed ID: 11735025)

  • 1. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.
    Beesley CE; Meaney CA; Greenland G; Adams V; Vellodi A; Young EP; Winchester BG
    Hum Genet; 2001 Nov; 109(5):503-11. PubMed ID: 11735025
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation analysis of 19 North American mucopolysaccharidosis type I patients: identification of two additional frequent mutations.
    Clarke LA; Nelson PV; Warrington CL; Morris CP; Hopwood JJ; Scott HS
    Hum Mutat; 1994; 3(3):275-82. PubMed ID: 8019563
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular genetics of mucopolysaccharidosis type I: mutation analysis among the patients of the former Soviet Union.
    Voskoboeva EY; Krasnopolskaya XD; Mirenburg TV; Weber B; Hopwood JJ
    Mol Genet Metab; 1998 Oct; 65(2):174-80. PubMed ID: 9787109
    [TBL] [Abstract][Full Text] [Related]  

  • 4. alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype.
    Scott HS; Litjens T; Nelson PV; Brooks DA; Hopwood JJ; Morris CP
    Hum Mutat; 1992; 1(4):333-9. PubMed ID: 1301941
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of five mutations in 20 mucopolysaccharidois type 1 patients: high prevalence of the W402X mutation. Mutations in brief no. 121. Online.
    Gort L; Chabás A; Coll MJ
    Hum Mutat; 1998; 11(4):332-3. PubMed ID: 10215409
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
    Yogalingam G; Guo XH; Muller VJ; Brooks DA; Clements PR; Kakkis ED; Hopwood JJ
    Hum Mutat; 2004 Sep; 24(3):199-207. PubMed ID: 15300847
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations.
    Venturi N; Rovelli A; Parini R; Menni F; Brambillasca F; Bertagnolio F; Uziel G; Gatti R; Filocamo M; Donati MA; Biondi A; Goldwurm S
    Hum Mutat; 2002 Sep; 20(3):231. PubMed ID: 12203999
    [TBL] [Abstract][Full Text] [Related]  

  • 8. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients.
    Hein LK; Bawden M; Muller VJ; Sillence D; Hopwood JJ; Brooks DA
    J Mol Biol; 2004 Apr; 338(3):453-62. PubMed ID: 15081804
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].
    Chkioua L; Khedhiri S; Jaidane Z; Ferchichi S; Habib S; Froissart R; Bonnet V; Chaabouni M; Dandana A; Jrad T; Limem H; Maire I; Abdelhedi M; Laradi S
    Arch Pediatr; 2007 Oct; 14(10):1183-9. PubMed ID: 17728118
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Four novel mutations underlying mild or intermediate forms of alpha-L-iduronidase deficiency (MPS IS and MPS IH/S).
    Tieu PT; Bach G; Matynia A; Hwang M; Neufeld EF
    Hum Mutat; 1995; 6(1):55-9. PubMed ID: 7550232
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.
    Scott HS; Bunge S; Gal A; Clarke LA; Morris CP; Hopwood JJ
    Hum Mutat; 1995; 6(4):288-302. PubMed ID: 8680403
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype.
    Scott HS; Litjens T; Hopwood JJ; Morris CP
    Hum Mutat; 1992; 1(2):103-8. PubMed ID: 1301196
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [A novel mutation of the alpha-L-iduronidase gene in a patient with mucopolysaccharidosis type I].
    Dou W; Peng C; Zheng JK; Gu XF
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr; 24(2):136-9. PubMed ID: 17407067
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature.
    Terlato NJ; Cox GF
    Genet Med; 2003; 5(4):286-94. PubMed ID: 12865757
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations.
    Yamagishi A; Tomatsu S; Fukuda S; Uchiyama A; Shimozawa N; Suzuki Y; Kondo N; Sukegawa K; Orii T
    Hum Mutat; 1996; 7(1):23-9. PubMed ID: 8664897
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.
    Scott HS; Litjens T; Nelson PV; Thompson PR; Brooks DA; Hopwood JJ; Morris CP
    Am J Hum Genet; 1993 Nov; 53(5):973-86. PubMed ID: 8213840
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.
    Bunge S; Kleijer WJ; Steglich C; Beck M; Zuther C; Morris CP; Schwinger E; Hopwood JJ; Scott HS; Gal A
    Hum Mol Genet; 1994 Jun; 3(6):861-6. PubMed ID: 7951228
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.
    Menon KP; Neufeld EF
    Cell Mol Biol (Noisy-le-grand); 1994 Nov; 40(7):999-1005. PubMed ID: 7849567
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational analysis of 105 mucopolysaccharidosis type VI patients.
    Karageorgos L; Brooks DA; Pollard A; Melville EL; Hein LK; Clements PR; Ketteridge D; Swiedler SJ; Beck M; Giugliani R; Harmatz P; Wraith JE; Guffon N; Leão Teles E; Sá Miranda MC; Hopwood JJ
    Hum Mutat; 2007 Sep; 28(9):897-903. PubMed ID: 17458871
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.