BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 18024218)

  • 1. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.
    Ruijter GJ; Valstar MJ; van de Kamp JM; van der Helm RM; Durand S; van Diggelen OP; Wevers RA; Poorthuis BJ; Pshezhetsky AV; Wijburg FA
    Mol Genet Metab; 2008 Feb; 93(2):104-11. PubMed ID: 18024218
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.
    Feldhammer M; Durand S; Mrázová L; Boucher RM; Laframboise R; Steinfeld R; Wraith JE; Michelakakis H; van Diggelen OP; Hrebícek M; Kmoch S; Pshezhetsky AV
    Hum Mutat; 2009 Jun; 30(6):918-25. PubMed ID: 19479962
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).
    Fedele AO; Hopwood JJ
    Hum Mutat; 2010 Jul; 31(7):E1574-86. PubMed ID: 20583299
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
    Haer-Wigman L; Newman H; Leibu R; Bax NM; Baris HN; Rizel L; Banin E; Massarweh A; Roosing S; Lefeber DJ; Zonneveld-Vrieling MN; Isakov O; Shomron N; Sharon D; Den Hollander AI; Hoyng CB; Cremers FP; Ben-Yosef T
    Hum Mol Genet; 2015 Jul; 24(13):3742-51. PubMed ID: 25859010
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
    Liang Y; Gao X; Lu D; Zhang H; Zhang
    Metab Brain Dis; 2023 Aug; 38(6):2013-2023. PubMed ID: 37014526
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease.
    Martins C; de Medeiros PFV; Leistner-Segal S; Dridi L; Elcioglu N; Wood J; Behnam M; Noyan B; Lacerda L; Geraghty MT; Labuda D; Giugliani R; Pshezhetsky AV
    Hum Mutat; 2019 Aug; 40(8):1084-1100. PubMed ID: 31228227
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
    Hrebícek M; Mrázová L; Seyrantepe V; Durand S; Roslin NM; Nosková L; Hartmannová H; Ivánek R; Cízkova A; Poupetová H; Sikora J; Urinovská J; Stranecký V; Zeman J; Lepage P; Roquis D; Verner A; Ausseil J; Beesley CE; Maire I; Poorthuis BJ; van de Kamp J; van Diggelen OP; Wevers RA; Hudson TJ; Fujiwara TM; Majewski J; Morgan K; Kmoch S; Pshezhetsky AV
    Am J Hum Genet; 2006 Nov; 79(5):807-19. PubMed ID: 17033958
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.
    Canals I; Elalaoui SC; Pineda M; Delgadillo V; Szlago M; Jaouad IC; Sefiani A; Chabás A; Coll MJ; Grinberg D; Vilageliu L
    Clin Genet; 2011 Oct; 80(4):367-74. PubMed ID: 20825431
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.
    Emre S; Terzioglu M; Tokatli A; Coskun T; Ozalp I; Weber B; Hopwood JJ
    Hum Mutat; 2002 Feb; 19(2):184-5. PubMed ID: 11793481
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
    Meyer A; Kossow K; Gal A; Steglich C; Mühlhausen C; Ullrich K; Braulke T; Muschol N
    Hum Mutat; 2008 May; 29(5):770. PubMed ID: 18407553
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.
    Ouesleti S; Coutinho MF; Ribeiro I; Miled A; Mosbahi DS; Alves S
    World J Pediatr; 2017 Aug; 13(4):374-380. PubMed ID: 28101780
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.
    Jansen AC; Cao H; Kaplan P; Silver K; Leonard G; De Meirleir L; Lissens W; Liebaers I; Veilleux M; Andermann F; Hegele RA; Andermann E
    Arch Neurol; 2007 Nov; 64(11):1629-34. PubMed ID: 17998446
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.
    Weber B; Guo XH; Kleijer WJ; van de Kamp JJ; Poorthuis BJ; Hopwood JJ
    Eur J Hum Genet; 1999 Jan; 7(1):34-44. PubMed ID: 10094189
    [TBL] [Abstract][Full Text] [Related]  

  • 16. The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.
    Huh HJ; Seo JY; Cho SY; Ki CS; Lee SY; Kim JW; Park HD; Jin DK
    Ann Lab Med; 2013 Jan; 33(1):75-9. PubMed ID: 23301227
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
    Valstar MJ; Neijs S; Bruggenwirth HT; Olmer R; Ruijter GJ; Wevers RA; van Diggelen OP; Poorthuis BJ; Halley DJ; Wijburg FA
    Ann Neurol; 2010 Dec; 68(6):876-87. PubMed ID: 21061399
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Histological characterization of retinal degeneration in mucopolysaccharidosis type IIIC.
    Ludwig J; Sawant OB; Wood J; Singamsetty S; Pan X; Bonilha VL; Rao S; Pshezhetsky AV
    Exp Eye Res; 2023 Apr; 229():109433. PubMed ID: 36858249
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.
    Feldhammer M; Durand S; Pshezhetsky AV
    PLoS One; 2009 Oct; 4(10):e7434. PubMed ID: 19823584
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
    Fan X; Zhang H; Zhang S; Bagshaw RD; Tropak MB; Callahan JW; Mahuran DJ
    Am J Hum Genet; 2006 Oct; 79(4):738-44. PubMed ID: 16960811
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.