BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

499 related articles for article (PubMed ID: 9744474)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.
    Rodríguez-Marí A; Díaz-Font A; Chabás A; Pastores GM; Grinberg D; Vilageliu L
    Blood Cells Mol Dis; 2001; 27(5):950-9. PubMed ID: 11783960
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
    Aharon-Peretz J; Rosenbaum H; Gershoni-Baruch R
    N Engl J Med; 2004 Nov; 351(19):1972-7. PubMed ID: 15525722
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H.
    Bronstein S; Karpati M; Peleg L
    Isr Med Assoc J; 2014 Nov; 16(11):683-5. PubMed ID: 25558695
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [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]  

  • 10. Gaucher disease: gene frequencies and genotype/phenotype correlations.
    Grabowski GA
    Genet Test; 1997; 1(1):5-12. PubMed ID: 10464619
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Linkage disequilibrium of common Gaucher disease mutations with a polymorphic site in the pyruvate kinase (PKLR) gene.
    Rockah R; Narinsky R; Frydman M; Cohen IJ; Zaizov R; Weizman A; Frisch A
    Am J Med Genet; 1998 Jul; 78(3):233-6. PubMed ID: 9677056
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Frequency of the Gaucher mutation among recent Russian immigrants].
    Hodish I; Elstein D; Abrahamov A; Lonshakova N; Zimran A
    Harefuah; 1995 Jun; 128(12):757-8, 824. PubMed ID: 7557682
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation analysis of an Ashkenazi Jewish family with Gaucher disease in three successive generations.
    Kolodny EH; Firon N; Eyal N; Horowitz M
    Am J Med Genet; 1990 Aug; 36(4):467-72. PubMed ID: 2117855
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation.
    Amaral O; Marcão A; Pinto E; Zimran A; Miranda MC
    Blood Cells Mol Dis; 1997 Dec; 23(3):415-6. PubMed ID: 9446756
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection.
    Boas FE
    Blood Cells Mol Dis; 2000 Aug; 26(4):348-59. PubMed ID: 11042036
    [TBL] [Abstract][Full Text] [Related]  

  • 18. NOD2/CARD15 genotype and phenotype differences between Ashkenazi and Sephardic Jews with Crohn's disease.
    Karban A; Waterman M; Panhuysen CI; Pollak RD; Nesher S; Datta L; Weiss B; Suissa A; Shamir R; Brant SR; Eliakim R
    Am J Gastroenterol; 2004 Jun; 99(6):1134-40. PubMed ID: 15180737
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 25.