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Journal Abstract Search

267 related items for 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
    [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
    [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
    [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
    [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 25; 58(12):2017-2024. PubMed ID: 32589593
    [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 Jun 25; 14(1):88. PubMed ID: 10447266
    [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 Jun 25; 32(1):218-25. PubMed ID: 14757438
    [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 25; 72(3):248-53. PubMed ID: 11243731
    [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 25; 51(4):810-20. PubMed ID: 1415223
    [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 Oct 25; 11(4):295-305. PubMed ID: 9554746
    [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 Oct 25; 51(4):315-21. PubMed ID: 18586596
    [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, Spanish Gaucher’s Disease Registry.
    J Hum Genet; 2007 Oct 25; 52(5):391-396. PubMed ID: 17427031
    [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 04; 80(4):343-51. PubMed ID: 9856561
    [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 04; 86(4):466-72. PubMed ID: 16185907
    [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 04; 34(3):789-93. PubMed ID: 21431620
    [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 04; 26(4):307-11. PubMed ID: 11042032
    [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 04; 63(2):415-27. PubMed ID: 9683600
    [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 Aug 04; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

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