These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 8652017)

  • 1. A common mutation site in the beta-galactosidase gene originates in Puerto Rico.
    Chiu NC; Qian WH; Shanske AL; Brooks SS; Boustany RM
    Pediatr Neurol; 1996 Jan; 14(1):53-6. PubMed ID: 8652017
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in acid beta-galactosidase cause GM1-gangliosidosis in American patients.
    Boustany RM; Qian WH; Suzuki K
    Am J Hum Genet; 1993 Oct; 53(4):881-8. PubMed ID: 8213816
    [TBL] [Abstract][Full Text] [Related]  

  • 3. GM1-gangliosidosis: tandem duplication within exon 3 of beta-galactosidase gene in an infantile patient.
    Oshima A; Yoshida K; Ishizaki A; Shimmoto M; Fukuhara Y; Sakuraba H; Suzuki Y
    Clin Genet; 1992 May; 41(5):235-8. PubMed ID: 1606711
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.
    Santamaria R; Blanco M; Chabás A; Grinberg D; Vilageliu L
    Clin Genet; 2007 Mar; 71(3):273-9. PubMed ID: 17309651
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A homozygous missense arginine to histidine substitution at position 482 of the beta-galactosidase in an Italian infantile GM1-gangliosidosis patient.
    Mosna G; Fattore S; Tubiello G; Brocca S; Trubia M; Gianazza E; Gatti R; Danesino C; Minelli A; Piantanida M
    Hum Genet; 1992 Nov; 90(3):247-50. PubMed ID: 1487238
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in the lysosomal beta-galactosidase gene that cause the adult form of GM1 gangliosidosis.
    Chakraborty S; Rafi MA; Wenger DA
    Am J Hum Genet; 1994 Jun; 54(6):1004-13. PubMed ID: 8198123
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
    Sperb F; Vairo F; Burin M; Mayer FQ; Matte U; Giugliani R
    Gene; 2013 Jan; 512(1):113-6. PubMed ID: 23046582
    [TBL] [Abstract][Full Text] [Related]  

  • 8. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
    Caciotti A; Garman SC; Rivera-Colón Y; Procopio E; Catarzi S; Ferri L; Guido C; Martelli P; Parini R; Antuzzi D; Battini R; Sibilio M; Simonati A; Fontana E; Salviati A; Akinci G; Cereda C; Dionisi-Vici C; Deodato F; d'Amico A; d'Azzo A; Bertini E; Filocamo M; Scarpa M; di Rocco M; Tifft CJ; Ciani F; Gasperini S; Pasquini E; Guerrini R; Donati MA; Morrone A
    Biochim Biophys Acta; 2011 Jul; 1812(7):782-90. PubMed ID: 21497194
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies.
    Santamaria R; Chabás A; Coll MJ; Miranda CS; Vilageliu L; Grinberg D
    Hum Mutat; 2006 Oct; 27(10):1060. PubMed ID: 16941474
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
    Georgiou T; Stylianidou G; Anastasiadou V; Caciotti A; Campos Y; Zammarchi E; Morrone A; D'azzo A; Drousiotou A
    Genet Test; 2005; 9(2):126-32. PubMed ID: 15943552
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
    Hofer D; Paul K; Fantur K; Beck M; Roubergue A; Vellodi A; Poorthuis BJ; Michelakakis H; Plecko B; Paschke E
    Clin Genet; 2010 Sep; 78(3):236-46. PubMed ID: 20175788
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
    Arash-Kaps L; Komlosi K; Seegräber M; Diederich S; Paschke E; Amraoui Y; Beblo S; Dieckmann A; Smitka M; Hennermann JB
    J Pediatr; 2019 Dec; 215():152-157.e3. PubMed ID: 31761138
    [TBL] [Abstract][Full Text] [Related]  

  • 13. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
    Hofer D; Paul K; Fantur K; Beck M; Bürger F; Caillaud C; Fumic K; Ledvinova J; Lugowska A; Michelakakis H; Radeva B; Ramaswami U; Plecko B; Paschke E
    Hum Mutat; 2009 Aug; 30(8):1214-21. PubMed ID: 19472408
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
    Suzuki Y; Oshima A
    Hum Genet; 1993 May; 91(4):407. PubMed ID: 8500799
    [No Abstract]   [Full Text] [Related]  

  • 15. beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
    Kaye EM; Shalish C; Livermore J; Taylor HA; Stevenson RE; Breakefield XO
    J Child Neurol; 1997 Jun; 12(4):242-7. PubMed ID: 9203065
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Molecular genetics of beta-galactosidase deficiency (GM1-gangliosidosis and Morquio syndrome type B)].
    Yoshida K; Yanagisawa N
    Nihon Rinsho; 1993 Sep; 51(9):2269-75. PubMed ID: 8411701
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.
    Ishii N; Oshima A; Sakuraba H; Fukuyama Y; Suzuki Y
    Pediatr Neurol; 1994 Jun; 10(4):317-9. PubMed ID: 8068159
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.
    Wang ZH; Zeng B; Shibuya H; Johnson GS; Alroy J; Pastores GM; Raghavan S; Kolodny EH
    J Inherit Metab Dis; 2000 Sep; 23(6):593-606. PubMed ID: 11032334
    [TBL] [Abstract][Full Text] [Related]  

  • 19. GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
    Yoshida K; Oshima A; Sakuraba H; Nakano T; Yanagisawa N; Inui K; Okada S; Uyama E; Namba R; Kondo K
    Ann Neurol; 1992 Mar; 31(3):328-32. PubMed ID: 1353343
    [TBL] [Abstract][Full Text] [Related]  

  • 20. beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
    Morrone A; Bardelli T; Donati MA; Giorgi M; Di Rocco M; Gatti R; Parini R; Ricci R; Taddeucci G; D'Azzo A; Zammarchi E
    Hum Mutat; 2000; 15(4):354-66. PubMed ID: 10737981
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.