BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

155 related articles for article (PubMed ID: 31386236)

  • 1. Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I.
    Taghikhani M; Khatami S; Abdi M; Hakhamaneshi MS; Alaei MR; Zamanfar D; Vakili R
    J Clin Lab Anal; 2019 Oct; 33(8):e22963. PubMed ID: 31386236
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation Analysis of the
    Kamranjam M; Alaei M
    Genet Test Mol Biomarkers; 2019 Aug; 23(8):515-522. PubMed ID: 31298590
    [No Abstract]   [Full Text] [Related]  

  • 3. Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
    Kwak MJ; Huh R; Kim J; Park HD; Cho SY; Jin DK
    BMC Med Genet; 2016 Aug; 17(1):58. PubMed ID: 27520059
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. A novel compound mutation in alpha-L-iduronidase gene causes mucopolysaccharidosis type I.
    Li Y; Tang X; Meng Y; Luo G; Yu X
    J Genet; 2019 Sep; 98():. PubMed ID: 31544795
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants.
    Bremer S; Ohlsson A; Brodtkorb E; Rootwelt H; Rootwelt T; Woldseth B; Mørkrid L
    Mol Genet Metab; 2011 Nov; 104(3):289-94. PubMed ID: 21831683
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. [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]  

  • 11. Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.
    Amr K; Katoury A; Abdel-Hamid M; Bassiouni R; Ibrahim M; Fateen E
    Genet Test Mol Biomarkers; 2009 Dec; 13(6):761-4. PubMed ID: 19839758
    [TBL] [Abstract][Full Text] [Related]  

  • 12. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
    Ngiwsara L; Ketudat-Cairns JR; Sawangareetrakul P; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Tim-Aroon T; Wattanasirichaigoon D; Svasti J
    Ann Hum Genet; 2018 May; 82(3):150-157. PubMed ID: 29282708
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
    Bertola F; Filocamo M; Casati G; Mort M; Rosano C; Tylki-Szymanska A; Tüysüz B; Gabrielli O; Grossi S; Scarpa M; Parenti G; Antuzzi D; Dalmau J; Di Rocco M; Dionisi Vici C; Okur I; Rosell J; Rovelli A; Furlan F; Rigoldi M; Biondi A; Cooper DN; Parini R
    Hum Mutat; 2011 Jun; 32(6):E2189-210. PubMed ID: 21394825
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.
    Prommajan K; Ausavarat S; Srichomthong C; Puangsricharern V; Suphapeetiporn K; Shotelersuk V
    Mol Vis; 2011 Feb; 17():456-60. PubMed ID: 21364962
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
    Vazna A; Beesley C; Berna L; Stolnaja L; Myskova H; Bouckova M; Vlaskova H; Poupetova H; Zeman J; Magner M; Hlavata A; Winchester B; Hrebicek M; Dvorakova L
    Am J Med Genet A; 2009 May; 149A(5):965-74. PubMed ID: 19396826
    [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. 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]  

    [Next]    [New Search]
    of 8.