BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

75 related articles for article (PubMed ID: 27196898)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog.
    Mansour TA; Woolard KD; Vernau KL; Ancona DM; Thomasy SM; Sebbag L; Moore BA; Knipe MF; Seada HA; Cowan TM; Aguilar M; Titus Brown C; Bannasch DL
    Sci Rep; 2020 Apr; 10(1):6558. PubMed ID: 32300136
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
    Peck DS; Lacey JM; White AL; Pino G; Studinski AL; Fisher R; Ahmad A; Spencer L; Viall S; Shallow N; Siemon A; Hamm JA; Murray BK; Jones KL; Gavrilov D; Oglesbee D; Raymond K; Matern D; Rinaldo P; Tortorelli S
    Int J Neonatal Screen; 2020 Mar; 6(1):10. PubMed ID: 33073008
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization of joint disease in mucopolysaccharidosis type I mice.
    de Oliveira PG; Baldo G; Mayer FQ; Martinelli B; Meurer L; Giugliani R; Matte U; Xavier RM
    Int J Exp Pathol; 2013 Oct; 94(5):305-11. PubMed ID: 23786352
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Assessment of dysmyelination with RAFFn MRI: application to murine MPS I.
    Satzer D; DiBartolomeo C; Ritchie MM; Storino C; Liimatainen T; Hakkarainen H; Idiyatullin D; Mangia S; Michaeli S; Parr AM; Low WC
    PLoS One; 2015; 10(2):e0116788. PubMed ID: 25680196
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration.
    Schuh RS; Franceschi EP; Brum BB; Fachel FNS; Poletto É; Vera LNP; Santos HS; Medeiros-Neves B; Monteagudo de Barros V; Helena da Rosa Paz A; Baldo G; Matte U; Giugliani R; Ferreira Teixeira H
    Int J Pharm; 2024 Jun; 660():124355. PubMed ID: 38897489
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
    Noyan B; Elcioglu NH; Tebani A; Bekri S
    Mol Syndromol; 2024 Jun; 15(3):194-201. PubMed ID: 38841321
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Engineering Memory T Cells as a platform for Long-Term Enzyme Replacement Therapy in Lysosomal Storage Disorders.
    Laoharawee K; Kleinboehl EW; Jensen JD; Peterson JJ; Slipek NJ; Wick BJ; Johnson MJ; Webber BR; Moriarity BS
    bioRxiv; 2024 Apr; ():. PubMed ID: 38712248
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
    Langan TJ; Jalal K; Barczykowski AL; Carter RL; Stapleton M; Orii K; Fukao T; Kobayashi H; Yamaguchi S; Tomatsu S
    JIMD Rep; 2020 Mar; 52(1):35-42. PubMed ID: 32154058
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences.
    Bruni S; Lavery C; Broomfield A
    Mol Genet Metab Rep; 2016 Sep; 8():67-73. PubMed ID: 27536552
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.
    Kamranjam M; Hosseini SM; Alaei M
    J Pediatr Genet; 2019 Dec; 8(4):212-217. PubMed ID: 31687259
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree.
    Azab B; Dardas Z; Hamarsheh M; Alsalem M; Kilani Z; Kilani F; Awidi A; Jafar H; Amr S
    Mol Genet Metab Rep; 2017 Sep; 12():76-79. PubMed ID: 28649516
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. In vivo adenine base editing corrects newborn murine model of Hurler syndrome.
    Su J; Jin X; She K; Liu Y; Song L; Zhao Q; Xiao J; Li R; Deng H; Lu F; Yang Y
    Mol Biomed; 2023 Feb; 4(1):6. PubMed ID: 36813914
    [TBL] [Abstract][Full Text] [Related]  

  • 18. MPSI Manifestations and Treatment Outcome: Skeletal Focus.
    De Ponti G; Donsante S; Frigeni M; Pievani A; Corsi A; Bernardo ME; Riminucci M; Serafini M
    Int J Mol Sci; 2022 Sep; 23(19):. PubMed ID: 36232472
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mucopolysaccharidosis Type I in the Russian Federation and Other Republics of the Former Soviet Union: Molecular Genetic Analysis and Epidemiology.
    Voskoboeva EY; Bookina TM; Semyachkina AN; Mikhaylova SV; Vashakmadze ND; Baydakova GV; Zakharova EY; Kutsev SI
    Front Mol Biosci; 2021; 8():783644. PubMed ID: 35141277
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Epidemiology of Mucopolysaccharidoses Update.
    Çelik B; Tomatsu SC; Tomatsu S; Khan SA
    Diagnostics (Basel); 2021 Feb; 11(2):. PubMed ID: 33578874
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 4.