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 *

432 related articles for article (PubMed ID: 8160756)

  • 1. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
    Zimran A; Horowitz M
    Am J Med Genet; 1994 Mar; 50(1):74-8. PubMed ID: 8160756
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY; Zhang W; Shi HP; Zay A; Campbell T; Tang N; Ferreira P
    Blood Cells Mol Dis; 2007; 38(3):287-93. PubMed ID: 17196853
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
    Horowitz M; Pasmanik-Chor M; Borochowitz Z; Falik-Zaccai T; Heldmann K; Carmi R; Parvari R; Beit-Or H; Goldman B; Peleg L; Levy-Lahad E; Renbaum P; Legum S; Shomrat R; Yeger H; Benbenisti D; Navon R; Dror V; Shohat M; Magal N; Navot N; Eyal N
    Hum Mutat; 1998; 12(4):240-4. PubMed ID: 9744474
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Gaucher disease in Romanian patients: incidence of the most common mutations and phenotypic manifestations.
    Drugan C; Procopciuc L; Jebeleanu G; Grigorescu-Sido P; Dussau J; Poenaru L; Caillaud C
    Eur J Hum Genet; 2002 Sep; 10(9):511-5. PubMed ID: 12173027
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gaucher disease in Spanish patients: analysis of eight mutations.
    Cormand B; Vilageliu L; Burguera JM; Balcells S; Gonzàlez-Duarte R; Grinberg D; Chabás A
    Hum Mutat; 1995; 5(4):303-9. PubMed ID: 7627184
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A; Gort L; Díaz-Font A; Montfort M; Santamaría R; Cidrás M; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
    Reissner K; Tayebi N; Stubblefield BK; Koprivica V; Blitzer M; Holleran W; Cowan T; Almashanu S; Maddalena A; Karson EM; Sidransky E
    Mol Genet Metab; 1998 Apr; 63(4):281-8. PubMed ID: 9635296
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
    Mao R; O'Brien JF; Rao S; Schmitt E; Roa B; Feldman GL; Spence WC; Snow K
    Mol Genet Metab; 2001 Mar; 72(3):248-53. PubMed ID: 11243731
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
    Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E
    Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a novel recombinant allele in three unrelated Italian Gaucher patients: implications for prognosis and genetic counseling.
    Filocamo M; Bonuccelli G; Mazzotti R; Giona F; Gatti R
    Blood Cells Mol Dis; 2000 Aug; 26(4):307-11. PubMed ID: 11042032
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
    Sidransky E; Bottler A; Stubblefield B; Ginns EI
    Hum Mutat; 1994; 3(1):25-8. PubMed ID: 8118463
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
    Horovenko NH; Ol'khovych NV; Nedoboĭ AM; Pichkur NO
    Tsitol Genet; 2007; 41(4):41-7. PubMed ID: 18030725
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
    Cormand B; Díaz A; Grinberg D; Chabás A; Vilageliu L
    Blood Cells Mol Dis; 2000 Oct; 26(5):409-16. PubMed ID: 11112377
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations.
    Alfonso P; Cenarro A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M
    Blood Cells Mol Dis; 2001; 27(5):882-91. PubMed ID: 11783951
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B; Grinberg D; Gort L; Chabás A; Vilageliu L
    Hum Mutat; 1998; 11(4):295-305. PubMed ID: 9554746
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene.
    Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H
    Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.
    Hodanová K; Hrebícek M; Cervenková M; Mrázová L; Vepreková L; Zemen J
    Blood Cells Mol Dis; 1999; 25(5-6):287-98. PubMed ID: 10744424
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
    Suwannarat P; Keeratichamroen S; Wattanasirichaigoon D; Ngiwsara L; Cairns JR; Svasti J; Visudtibhan A; Pangkanon S
    Blood Cells Mol Dis; 2007; 39(3):348-52. PubMed ID: 17689991
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and molecular aspects of Gaucher disease in New Zealand.
    Woodfield MJ; Woodfield DG; Winship IM
    N Z Med J; 1997 Aug; 110(1050):316-9. PubMed ID: 9315031
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.
    Boot RG; Hollak CE; Verhoek M; Sloof P; Poorthuis BJ; Kleijer WJ; Wevers RA; van Oers MH; Mannens MM; Aerts JM; van Weely S
    Hum Mutat; 1997; 10(5):348-58. PubMed ID: 9375849
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 22.