BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

368 related articles for article (PubMed ID: 11243731)

  • 21. 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]  

  • 22. 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]  

  • 23. Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.
    Cormand B; Montfort M; Chabás A; Grinberg D; Vilageliu LL
    Prenat Diagn; 1998 Mar; 18(3):207-12. PubMed ID: 9556036
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [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]  

  • 25. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
    Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
    Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.
    Pomponio RJ; Cabrera-Salazar MA; Echeverri OY; Miller G; Barrera LA
    Mol Genet Metab; 2005 Dec; 86(4):466-72. PubMed ID: 16185907
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA; Pérez-Calvo JI; Pastores GM; Cenarro A; Giraldo P; Pocoví M
    Blood Cells Mol Dis; 2001; 27(2):489-95. PubMed ID: 11259172
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
    Sinclair G; Choy FY; Humphries L
    Blood Cells Mol Dis; 1998 Dec; 24(4):420-7. PubMed ID: 9851895
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular screening of Japanese patients with Gaucher disease: phenotypic variability in the same genotypes.
    Kawame H; Maekawa K; Eto Y
    Hum Mutat; 1993; 2(5):362-7. PubMed ID: 8257989
    [TBL] [Abstract][Full Text] [Related]  

  • 31. DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent.
    Choy FY; Wei C; Applegarth DA; McGillivray BC
    Am J Med Genet; 1994 Jun; 51(2):156-60. PubMed ID: 7916532
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
    Haverkaemper S; Marquardt T; Hausser I; Timme K; Kuehn T; Hertzberg C; Rossi R
    Neonatology; 2011; 100(2):194-7. PubMed ID: 21455010
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
    Jack A; Amato D; Morris G; Choy FY
    Gene; 2014 Mar; 538(1):84-7. PubMed ID: 24434810
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region.
    Choy FY; Woo M; Der Kaloustian VM
    Am J Med Genet; 1991 Dec; 41(4):469-74. PubMed ID: 1776640
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Glucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
    Martínez-Arias R; Comas D; Mateu E; Bertranpetit J
    Hum Mutat; 2001 Mar; 17(3):191-8. PubMed ID: 11241841
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).
    Brown JT; Lahey C; Laosinchai-Wolf W; Hadd AG
    BMC Med Genet; 2006 Aug; 7():69. PubMed ID: 16887033
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Phenotypic and genotypic heterogeneity in Gaucher disease type 1: a comparison between Brazil and the rest of the world.
    Sobreira E; Pires RF; Cizmarik M; Grabowski GA
    Mol Genet Metab; 2007 Jan; 90(1):81-6. PubMed ID: 16996765
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Mutations causing Gaucher disease.
    Horowitz M; Zimran A
    Hum Mutat; 1994; 3(1):1-11. PubMed ID: 8118460
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 19.