BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 33985463)

  • 1. Compound heterozygous missense mutations in a Chinese mucopolysaccharidosis type VI patient: a case report.
    He MF; Yang J; Dong MJ; Wang YT; Liu H
    BMC Ophthalmol; 2021 May; 21(1):214. PubMed ID: 33985463
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI].
    Zheng J; Huang Y; Zhao X; Sheng H; Cheng J; Zhou Z; Li X; Mao X; Liu L
    Zhonghua Er Ke Za Zhi; 2014 Jun; 52(6):403-8. PubMed ID: 25190157
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.
    Ittiwut C; Boonbuamas S; Srichomthong C; Ittiwut R; Suphapeetiporn K; Shotelersuk V
    Genet Test Mol Biomarkers; 2017 Jan; 21(1):58-62. PubMed ID: 27797586
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Another Novel Missense Mutation in ARSB Gene in Iran.
    Abbasi S; Noruzinia M; Bashti O; Ahmadvand M; Salehi Chaleshtori AR; Mahootipou L
    Acta Med Iran; 2017 Sep; 55(9):585-590. PubMed ID: 29202552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
    Tomanin R; Karageorgos L; Zanetti A; Al-Sayed M; Bailey M; Miller N; Sakuraba H; Hopwood JJ
    Hum Mutat; 2018 Dec; 39(12):1788-1802. PubMed ID: 30118150
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
    Lin WD; Lin SP; Wang CH; Hwu WL; Chuang CK; Lin SJ; Tsai Y; Chen CP; Tsai FJ
    Clin Chim Acta; 2008 Aug; 394(1-2):89-93. PubMed ID: 18486607
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.
    Honjo RS; Vaca ECN; Leal GN; Abellan DM; Ikari NM; Jatene MB; Martins AM; Kim CA
    BMC Med Genet; 2020 Feb; 21(1):37. PubMed ID: 32075597
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.
    Kantaputra PN; Kayserili H; Guven Y; Kantaputra W; Balci MC; Tanpaiboon P; Tananuvat N; Uttarilli A; Dalal A
    Am J Med Genet A; 2014 Jun; 164A(6):1443-53. PubMed ID: 24677745
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.
    Yang CF; Wu JY; Lin SP; Tsai FJ
    J Formos Med Assoc; 2001 Dec; 100(12):820-3. PubMed ID: 11802522
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
    Aminzadeh M; Malekpour N; Ghandil P
    Gene; 2019 Jul; 706():1-5. PubMed ID: 31009684
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.
    Uttarilli A; Ranganath P; Jain SJ; Prasad CK; Sinha A; Verma IC; Phadke SR; Puri RD; Danda S; Muranjan MN; Jevalikar G; Nagarajaram HA; Dalal AB
    Indian J Med Res; 2015 Oct; 142(4):414-25. PubMed ID: 26609033
    [TBL] [Abstract][Full Text] [Related]  

  • 12. MPS VI associated ocular phenotypes in an MPS VI murine model and the therapeutic effects of odiparcil treatment.
    Entchev E; Antonelli S; Mauro V; Cimbolini N; Jantzen I; Roussey A; Germain JM; Zhang H; Luccarrini JM; Lacombe O; Young SP; Feraille L; Tallandier M
    Mol Genet Metab; 2022 Feb; 135(2):143-153. PubMed ID: 34417096
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.
    Jurecka A; Piotrowska E; Cimbalistiene L; Gusina N; Sobczyńska A; Czartoryska B; Czerska K; Õunap K; Węgrzyn G; Tylki-Szymańska A
    Mol Genet Metab; 2012 Feb; 105(2):237-43. PubMed ID: 22133300
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Identification of a novel arylsulfatase B gene mutation in three unrelated Iranian mucopolysaccharidosis type-VI patients with different phenotype severity.
    Nouri N; Nouri N; Aryani O; Kamalidehghan B; Houshmand M
    Iran Biomed J; 2012; 16(3):169-71. PubMed ID: 23023219
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report.
    Kaissi AA; Hofstaetter J; Weigel G; Grill F; Ganger R; Kircher SG
    Medicine (Baltimore); 2016 Aug; 95(32):e4561. PubMed ID: 27512882
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mucopolysaccharidosis type VI: a predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in the ARSB gene.
    Jurecka A; Zakharova E; Cimbalistiene L; Gusina N; Kulpanovich A; Golda A; Opoka-Winiarska V; Piotrowska E; Voskoboeva E; Tylki-Szymańska A
    Am J Med Genet A; 2013 Jun; 161A(6):1291-9. PubMed ID: 23633437
    [TBL] [Abstract][Full Text] [Related]  

  • 18. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs.
    Raj K; Berman-Booty L; Foureman P; Giger U
    Anim Genet; 2020 Dec; 51(6):982-986. PubMed ID: 32985704
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mucopolysaccharidosis Type VI in a Great Dane Caused by a Nonsense Mutation in the ARSB Gene.
    Wang P; Margolis C; Lin G; Buza EL; Quick S; Raj K; Han R; Giger U
    Vet Pathol; 2018 Mar; 55(2):286-293. PubMed ID: 29157190
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI.
    Bartolomeo R; Polishchuk EV; Volpi N; Polishchuk RS; Auricchio A
    J Inherit Metab Dis; 2013 Mar; 36(2):363-71. PubMed ID: 22971959
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.