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497 related items for PubMed ID: 15967693

  • 1. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
    [Abstract] [Full Text] [Related]

  • 2. 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; 23(6):567-75. PubMed ID: 15146461
    [Abstract] [Full Text] [Related]

  • 3. 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 Jun; 38(3):287-93. PubMed ID: 17196853
    [Abstract] [Full Text] [Related]

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

  • 5. 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 Jun; 15(2):181-8. PubMed ID: 10649495
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

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

  • 8. Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.
    Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY.
    Pediatr Dev Pathol; 2011 Sep; 14(3):240-3. PubMed ID: 20946052
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 50(1):74-8. PubMed ID: 8160756
    [Abstract] [Full Text] [Related]

  • 10. Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
    Grace ME, Ashton-Prolla P, Pastores GM, Soni A, Desnick RJ.
    J Clin Invest; 1999 Mar 01; 103(6):817-23. PubMed ID: 10079102
    [Abstract] [Full Text] [Related]

  • 11. 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 01; 63(4):281-8. PubMed ID: 9635296
    [Abstract] [Full Text] [Related]

  • 12. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
    Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E.
    Eur J Hum Genet; 1999 Apr 01; 7(4):505-9. PubMed ID: 10352942
    [Abstract] [Full Text] [Related]

  • 13. 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 Apr 01; 39(3):348-52. PubMed ID: 17689991
    [Abstract] [Full Text] [Related]

  • 14. Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
    Park JK, Orvisky E, Tayebi N, Kaneski C, Lamarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E.
    Pediatr Res; 2003 Mar 01; 53(3):387-95. PubMed ID: 12595585
    [Abstract] [Full Text] [Related]

  • 15. Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele.
    Santamaria R, Michelakakis H, Moraitou M, Dimitriou E, Dominissini S, Grossi S, Sánchez-Ollé G, Chabás A, Pittis MG, Filocamo M, Vilageliu L, Grinberg D.
    Hum Mutat; 2008 Jun 01; 29(6):E58-67. PubMed ID: 18429048
    [Abstract] [Full Text] [Related]

  • 16. 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 Jun 01; 51(4):315-21. PubMed ID: 18586596
    [Abstract] [Full Text] [Related]

  • 17. Divergent phenotypes in Gaucher disease implicate the role of modifiers.
    Goker-Alpan O, Hruska KS, Orvisky E, Kishnani PS, Stubblefield BK, Schiffmann R, Sidransky E.
    J Med Genet; 2005 Jun 01; 42(6):e37. PubMed ID: 15937077
    [Abstract] [Full Text] [Related]

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

  • 19. [Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].
    Ben Turkia H, Riahi I, Azzouz H, Ladab S, Cherif W, Ben Chehida A, Abdelmoula MS, Caillaud C, Chemli J, Abdelhak S, Tebib N, Ben Dridi MF.
    Tunis Med; 2010 Mar 01; 88(3):158-62. PubMed ID: 20415187
    [Abstract] [Full Text] [Related]

  • 20. 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 Mar 01; 5(4):303-9. PubMed ID: 7627184
    [Abstract] [Full Text] [Related]

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