BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

271 related articles for article (PubMed ID: 12482401)

  • 1. High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients.
    Torralba MA; Alfonso P; Pérez-Calvo JI; Cenarro A; Pastores GM; Giraldo P; Civeira F; Pocoví M
    Blood Cells Mol Dis; 2002; 29(1):35-40. PubMed ID: 12482401
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Three Gaucher-disease-producing mutations in a patient with Gaucher disease: mechanism and diagnostic implications.
    Beutler E; Liebman H; Gelbart T; Stefanski E
    Acta Haematol; 2000; 104(2-3):103-5. PubMed ID: 11154983
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic and clinical features of patients with Gaucher disease in Hungary.
    Erdos M; Hodanova K; Taskó S; Palicz A; Stolnaja L; Dvorakova L; Hrebicek M; Maródi L
    Blood Cells Mol Dis; 2007; 39(1):119-23. PubMed ID: 17395504
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
    Lepe-Balsalobre E; Santotoribio JD; Nuñez-Vazquez R; García-Morillo S; Jiménez-Arriscado P; Hernández-Arévalo P; Delarosa-Rodríguez R; Guerrero JM; Macher HC
    Clin Chem Lab Med; 2020 Jun; 58(12):2017-2024. PubMed ID: 32589593
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
    Sarria AJ; Giraldo P; Perez-Calvo JI; Pocoví M
    Hum Mutat; 1999; 14(1):88. PubMed ID: 10447266
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients.
    Alfonso P; Rodríguez-Rey JC; Gañán A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M
    Blood Cells Mol Dis; 2004; 32(1):218-25. PubMed ID: 14757438
    [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. Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA.
    He GS; Grabowski GA
    Am J Hum Genet; 1992 Oct; 51(4):810-20. PubMed ID: 1415223
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain.
    Alfonso P; Aznarez S; Giralt M; Pocovi M; Giraldo P;
    J Hum Genet; 2007; 52(5):391-396. PubMed ID: 17427031
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.
    Cormand B; Harboe TL; Gort L; Campoy C; Blanco M; Chamoles N; Chabás A; Vilageliu L; Grinberg D
    Am J Med Genet; 1998 Dec; 80(4):343-51. PubMed ID: 9856561
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.
    Balwani M; Grace ME; Desnick RJ
    J Inherit Metab Dis; 2011 Jun; 34(3):789-93. PubMed ID: 21431620
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.
    Germain DP; Puech JP; Caillaud C; Kahn A; Poenaru L
    Am J Hum Genet; 1998 Aug; 63(2):415-27. PubMed ID: 9683600
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E; Gelbart T
    Hum Mutat; 1994; 4(3):212-6. PubMed ID: 7833951
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.