These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 1487244)

  • 1. Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms.
    Kawame H; Hasegawa Y; Eto Y; Maekawa K
    Hum Genet; 1992 Nov; 90(3):294-6. PubMed ID: 1487244
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Glucocerebrosidase mutations in Gaucher disease.
    Beutler E; Demina A; Gelbart T
    Mol Med; 1994 Nov; 1(1):82-92. PubMed ID: 8790604
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The E326K mutation and Gaucher disease: mutation or polymorphism?
    Park JK; Tayebi N; Stubblefield BK; LaMarca ME; MacKenzie JJ; Stone DL; Sidransky E
    Clin Genet; 2002 Jan; 61(1):32-4. PubMed ID: 11903352
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A rare G6490-->A substitution at the last nucleotide of exon 10 of the glucocerebrosidase gene in two unrelated Italian Gaucher patients.
    Seri M; Filocamo M; Corsolini F; Bembi B; Barbera C; Gatti R
    Clin Genet; 1995 Sep; 48(3):123-7. PubMed ID: 8556817
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene.
    Dahl N; Lagerström M; Erikson A; Pettersson U
    Am J Hum Genet; 1990 Aug; 47(2):275-8. PubMed ID: 2378352
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 63(4):281-8. PubMed ID: 9635296
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease.
    Orvisky E; Park JK; Parker A; Walker JM; Martin BM; Stubblefield BK; Uyama E; Tayebi N; Sidransky E
    Hum Mutat; 2002 Apr; 19(4):458-9. PubMed ID: 11933202
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.
    Ida H; Rennert OM; Kawame H; Maekawa K; Eto Y
    J Inherit Metab Dis; 1997 Mar; 20(1):67-73. PubMed ID: 9061570
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prevalent and rare mutations among Gaucher patients.
    Eyal N; Wilder S; Horowitz M
    Gene; 1990 Dec; 96(2):277-83. PubMed ID: 2269438
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Two novel (1098insA and Y313H) and one rare (R359Q) mutations detected in exon 8 of the beta-glucocerebrosidase gene in Gaucher's disease patients.
    Cormand B; Vilageliu L; Balcells S; Gonzàlez-Duarte R; Chabás A; Grinberg D
    Hum Mutat; 1996; 7(3):272-4. PubMed ID: 8829663
    [No Abstract]   [Full Text] [Related]  

  • 12. Detection of mutations in insulin-receptor gene in NIDDM patients by analysis of single-stranded conformation polymorphisms.
    O'Rahilly S; Choi WH; Patel P; Turner RC; Flier JS; Moller DE
    Diabetes; 1991 Jun; 40(6):777-82. PubMed ID: 2040394
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase gene.
    Tayebi N; Cushner SR; Kleijer W; Lau EK; Damschroder-Williams PJ; Stubblefield BK; Den Hollander J; Sidransky E
    Am J Med Genet; 1997 Nov; 73(1):41-7. PubMed ID: 9375921
    [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. Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients.
    Choy FY; Humphries ML; Shi H
    Am J Med Genet; 1997 Aug; 71(2):172-8. PubMed ID: 9217217
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Polymorphisms in the human glucocerebrosidase gene.
    Beutler E; West C; Gelbart T
    Genomics; 1992 Apr; 12(4):795-800. PubMed ID: 1572652
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Molecular genetic approaches to neurologic diseases].
    Tsuji S
    Rinsho Shinkeigaku; 1989 Dec; 29(12):1550-3. PubMed ID: 2698300
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Functional characterization of the novel mutation IVS 8 (-11delC) (-14T>A) in the intron 8 of the glucocerebrosidase gene of two Italian siblings with Gaucher disease type I.
    Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M
    Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Two new missense mutations in a non-Jewish Caucasian family with type 3 Gaucher disease.
    Seeman PJ; Finckh U; Höppner J; Lakner V; Liebisch I; Grau G; Rolfs A
    Neurology; 1996 Apr; 46(4):1102-7. PubMed ID: 8780099
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
    Latham T; Grabowski GA; Theophilus BD; Smith FI
    Am J Hum Genet; 1990 Jul; 47(1):79-86. PubMed ID: 2349952
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.