BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 22074387)

  • 1. Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.
    Chkioua L; Khedhiri S; Ben Turkia H; Chahed H; Ferchichi S; Ben Dridi MF; Laradi S; Miled A
    Diagn Pathol; 2011 Nov; 6():113. PubMed ID: 22074387
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
    Laradi S; Tukel T; Erazo M; Shabbeer J; Chkioua L; Khedhiri S; Ferchichi S; Chaabouni M; Miled A; Desnick RJ
    J Inherit Metab Dis; 2005; 28(6):1019-26. PubMed ID: 16435195
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.
    Chkioua L; Khedhiri S; Turkia HB; Tcheng R; Froissart R; Chahed H; Ferchichi S; Ben Dridi MF; Vianey-Saban C; Laradi S; Miled A
    Diagn Pathol; 2011 Jun; 6():47. PubMed ID: 21639919
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mucopolysaccharidoses type I and IVA: clinical features and consanguinity in Tunisia.
    Khedhiri S; Chkioua L; Bouzidi H; Dandana A; Ben Turkia H; Miled A; Laradi S
    Pathol Biol (Paris); 2009 Jul; 57(5):392-7. PubMed ID: 18584975
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms.
    Chkioua L; Khedhiri S; Kassab A; Bibi A; Ferchichi S; Froissart R; Vianey-Saban C; Laradi S; Miled A
    Diagn Pathol; 2011 Apr; 6():39. PubMed ID: 21521498
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.
    Chkioua L; Boudabous H; Jaballi I; Grissa O; Turkia HB; Tebib N; Laradi S
    Diagn Pathol; 2018 May; 13(1):35. PubMed ID: 29843745
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects.
    Alif N; Hess K; Straczek J; Sebbar S; N'Bou A; Nabet P; Dousset B
    Ann Hum Genet; 1999 Jan; 63(Pt 1):9-16. PubMed ID: 10738517
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series.
    Tebani A; Zanoutene-Cheriet L; Adjtoutah Z; Abily-Donval L; Brasse-Lagnel C; Laquerrière A; Marret S; Chalabi Benabdellah A; Bekri S
    Int J Mol Sci; 2016 May; 17(5):. PubMed ID: 27196898
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.
    Zahoor MY; Cheema HA; Ijaz S; Anjum MN; Ramzan K; Bhinder MA
    J Pediatr Endocrinol Metab; 2019 Nov; 32(11):1221-1227. PubMed ID: 31473686
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [Mutation analysis and prenatal diagnosis of 2 cases with mucopolysaccharidosis type I].
    Wang XN; Wei M; Shi HP; Qiu ZQ; Yao FX; Meng Y; Zhang WM
    Zhonghua Er Ke Za Zhi; 2011 Apr; 49(4):306-10. PubMed ID: 21624210
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
    Clarke LA; Giugliani R; Guffon N; Jones SA; Keenan HA; Munoz-Rojas MV; Okuyama T; Viskochil D; Whitley CB; Wijburg FA; Muenzer J
    Clin Genet; 2019 Oct; 96(4):281-289. PubMed ID: 31194252
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome.
    Ahmed A; Whitley CB; Cooksley R; Rudser K; Cagle S; Ali N; Delaney K; Yund B; Shapiro E
    Mol Genet Metab; 2014 Feb; 111(2):123-7. PubMed ID: 24368159
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Mutation analysis of 11 Chinese patients with attenuated mucopolysaccharidosis type].
    WANG XN; SHI HP; ZHANG WM; QIU ZQ; MENG Y; YAO FX; WEI M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):147-51. PubMed ID: 21462124
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.