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331 related items for PubMed ID: 32589593

  • 1. 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]

  • 2. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation.
    Sheth J, Bhavsar R, Mistri M, Pancholi D, Bavdekar A, Dalal A, Ranganath P, Girisha KM, Shukla A, Phadke S, Puri R, Panigrahi I, Kaur A, Muranjan M, Goyal M, Ramadevi R, Shah R, Nampoothiri S, Danda S, Datar C, Kapoor S, Bhatwadekar S, Sheth F.
    BMC Med Genet; 2019 Feb 14; 20(1):31. PubMed ID: 30764785
    [Abstract] [Full Text] [Related]

  • 3. Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.
    Nagel M, Reichbauer J, Böhringer J, Schelling Y, Krägeloh-Mann I, Schüle R, Ulmer U.
    Stem Cell Res; 2019 Mar 14; 35():101336. PubMed ID: 30606667
    [Abstract] [Full Text] [Related]

  • 4. 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 Mar 14; 29(1):35-40. PubMed ID: 12482401
    [Abstract] [Full Text] [Related]

  • 5. Gaucher Disease: Identification and Novel Variants in Mexican and Spanish Patients.
    Silva García R, de Frutos LL, Arreguin EÁ, González CC, Ortiz JEG, Ornelas SF, Castellano PG, Favela FB.
    Arch Med Res; 2021 Oct 14; 52(7):731-737. PubMed ID: 34134921
    [Abstract] [Full Text] [Related]

  • 6. Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.
    Kang L, Wang Y, Gao X, Qiu W, Ye J, Han L, Gu X, Zhang H.
    Brain Dev; 2018 Nov 14; 40(10):876-883. PubMed ID: 29934114
    [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 Nov 14; 32(1):218-25. PubMed ID: 14757438
    [Abstract] [Full Text] [Related]

  • 8. 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 Nov 14; 27(2):489-95. PubMed ID: 11259172
    [Abstract] [Full Text] [Related]

  • 9. 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 Nov 14; 27(5):882-91. PubMed ID: 11783951
    [Abstract] [Full Text] [Related]

  • 10. 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 Nov 14; 52(5):391-396. PubMed ID: 17427031
    [Abstract] [Full Text] [Related]

  • 11. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Hum Mutat; 2004 Jun 14; 23(6):567-75. PubMed ID: 15146461
    [Abstract] [Full Text] [Related]

  • 12. The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
    Venkatachari M, Chakraborty S, Correa ARE, Mishra P, Kocchar KP, Kabra M, Chakrabarty B, Kalaivani M, Sapra S, Mishra P, Gulati S, Gupta N.
    Am J Med Genet A; 2023 Apr 14; 191(4):1038-1043. PubMed ID: 36637080
    [Abstract] [Full Text] [Related]

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  • 15. Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India.
    Sheth J, Pancholi D, Mistri M, Nath P, Ankleshwaria C, Bhavsar R, Puri R, Phadke S, Sheth F.
    BMC Med Genet; 2018 Oct 01; 19(1):178. PubMed ID: 30285649
    [Abstract] [Full Text] [Related]

  • 16. Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
    Torralba MA, Olivera S, Bureo JC, Dalmau J, Nuñez R, León P, Villarrubia J.
    QJM; 2016 Jul 01; 109(7):449-52. PubMed ID: 26792850
    [Abstract] [Full Text] [Related]

  • 17. [Genetics of Gaucher's disease. Genotype-phenotype correlation].
    Alfonso Palacín P, Pocoví M.
    Med Clin (Barc); 2011 Sep 01; 137 Suppl 1():17-22. PubMed ID: 22230121
    [Abstract] [Full Text] [Related]

  • 18. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
    Ankleshwaria C, Mistri M, Bavdekar A, Muranjan M, Dave U, Tamhankar P, Khanna V, Jasinge E, Nampoothiri S, Edayankara Kadangot S, Sheth F, Gupta S, Sheth J.
    J Hum Genet; 2014 Apr 01; 59(4):223-8. PubMed ID: 24522292
    [Abstract] [Full Text] [Related]

  • 19. 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 Apr 01; 11(4):295-305. PubMed ID: 9554746
    [Abstract] [Full Text] [Related]

  • 20. 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 01; 63(2):415-27. PubMed ID: 9683600
    [Abstract] [Full Text] [Related]

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