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Journal Abstract Search

363 related items for PubMed ID: 11243731

  • 1. 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
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  • 3. A new gene-pseudogene fusion allele due to a recombination in intron 2 of the glucocerebrosidase gene causes Gaucher disease.
    Cormand B, Díaz A, Grinberg D, Chabás A, Vilageliu L.
    Blood Cells Mol Dis; 2000 Oct; 26(5):409-16. PubMed ID: 11112377
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  • 4. 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 Oct; 38(3):287-93. PubMed ID: 17196853
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  • 6. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population.
    Horowitz M, Pasmanik-Chor M, Borochowitz Z, Falik-Zaccai T, Heldmann K, Carmi R, Parvari R, Beit-Or H, Goldman B, Peleg L, Levy-Lahad E, Renbaum P, Legum S, Shomrat R, Yeger H, Benbenisti D, Navon R, Dror V, Shohat M, Magal N, Navot N, Eyal N.
    Hum Mutat; 1998 Oct; 12(4):240-4. PubMed ID: 9744474
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  • 8. 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
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  • 10. 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
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  • 11. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients.
    Filocamo M, Mazzotti R, Stroppiano M, Seri M, Giona F, Parenti G, Regis S, Corsolini F, Zoboli S, Gatti R.
    Hum Mutat; 2002 Sep; 20(3):234-5. PubMed ID: 12204005
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  • 12. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity.
    Choy FY, Woo M, Der Kaloustian VM.
    Am J Med Genet; 1991 Jun 15; 39(4):466-71. PubMed ID: 1877626
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  • 13. [Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity].
    Beĭer EM, Bukina TM, Tsvetkova IV.
    Vopr Med Khim; 2000 Jun 15; 46(5):451-4. PubMed ID: 11204625
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  • 14. A novel mutation (V191G) in a German-British type 1 Gaucher disease patient. Mutations in brief no. 131. Online.
    Choy FY, Humphries ML, Ben-Yoseph Y.
    Hum Mutat; 1998 Jun 15; 11(5):411-2. PubMed ID: 10206680
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  • 15. 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 15; 27(5):882-91. PubMed ID: 11783951
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  • 16. [Biochemical and molecular diagnosis of Gaucher disease in Tunisia].
    Dandana A, Ferchichi S, Khedhiri S, Chkioua L, Jaidane Z, Monastiri K, Ben Khelifa S, Ben Mansour R, Maire I, Froissart R, Bonnet V, Laradi S, Miled A.
    Ann Biol Clin (Paris); 2007 Jun 15; 65(6):647-52. PubMed ID: 18039610
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  • 17. 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 Jun 15; 29(1):35-40. PubMed ID: 12482401
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  • 18. DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype?
    Sidransky E, Bottler A, Stubblefield B, Ginns EI.
    Hum Mutat; 1994 Jun 15; 3(1):25-8. PubMed ID: 8118463
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  • 19. 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 15; 51(4):315-21. PubMed ID: 18586596
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  • 20. Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion.
    Beutler E, Gelbart T.
    Hum Mutat; 1994 Jun 15; 4(3):212-6. PubMed ID: 7833951
    [Abstract] [Full Text] [Related]

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