BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 12203999)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. [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]  

  • 12. Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy.
    Pereira VG; Martins AM; Micheletti C; D'Almeida V
    Clin Chim Acta; 2008 Jan; 387(1-2):75-9. PubMed ID: 17920576
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.
    Yogalingam G; Hopwood JJ
    Hum Mutat; 2001 Oct; 18(4):264-81. PubMed ID: 11668611
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.
    Gao HZ; Kobayashi K; Tabata A; Tsuge H; Iijima M; Yasuda T; Kalkanoglu HS; Dursun A; Tokatli A; Coskun T; Trefz FK; Skladal D; Mandel H; Seidel J; Kodama S; Shirane S; Ichida T; Makino S; Yoshino M; Kang JH; Mizuguchi M; Barshop BA; Fuchinoue S; Seneca S; Zeesman S; Knerr I; Rodés M; Wasant P; Yoshida I; De Meirleir L; Abdul Jalil M; Begum L; Horiuchi M; Katunuma N; Nakagawa S; Saheki T
    Hum Mutat; 2003 Jul; 22(1):24-34. PubMed ID: 12815590
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations among Italian mucopolysaccharidosis type I patients.
    Gatti R; DiNatale P; Villani GR; Filocamo M; Muller V; Guo XH; Nelson PV; Scott HS; Hopwood JJ
    J Inherit Metab Dis; 1997 Nov; 20(6):803-6. PubMed ID: 9427149
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.
    Fedele AO; Filocamo M; Di Rocco M; Sersale G; Lübke T; di Natale P; Cosma MP; Ballabio A
    Hum Mutat; 2007 May; 28(5):523. PubMed ID: 17397050
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.
    Kasper DC; Iqbal F; Dvorakova L; Zeman J; Magner M; Bodamer O; Pollak A; Herkner KR; Item CB
    Clin Chim Acta; 2010 Mar; 411(5-6):345-50. PubMed ID: 19954743
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.