BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

184 related articles for article (PubMed ID: 9856561)

  • 1. 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]  

  • 2. 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; 11(4):295-305. PubMed ID: 9554746
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.
    Hodanová K; Hrebícek M; Cervenková M; Mrázová L; Vepreková L; Zemen J
    Blood Cells Mol Dis; 1999; 25(5-6):287-98. PubMed ID: 10744424
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 14(1):88. PubMed ID: 10447266
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations.
    Mattošová S; Chandoga J; Hlavatá A; Saligová J; Maceková D
    Isr Med Assoc J; 2015 Mar; 17(3):166-70. PubMed ID: 25946768
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 5(4):303-9. PubMed ID: 7627184
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
    Koprivica V; Stone DL; Park JK; Callahan M; Frisch A; Cohen IJ; Tayebi N; Sidransky E
    Am J Hum Genet; 2000 Jun; 66(6):1777-86. PubMed ID: 10796875
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.
    Lau EK; Tayebi N; Ingraham LJ; Winfield SL; Koprivica V; Stone DL; Zimran A; Ginns EI; Sidransky E
    Hum Genet; 1999 Apr; 104(4):293-300. PubMed ID: 10369158
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients.
    Horowitz M; Tzuri G; Eyal N; Berebi A; Kolodny EH; Brady RO; Barton NW; Abrahamov A; Zimran A
    Am J Hum Genet; 1993 Oct; 53(4):921-30. PubMed ID: 8213821
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.
    Wan L; Hsu CM; Tsai CH; Lee CC; Hwu WL; Tsai FJ
    Blood Cells Mol Dis; 2006; 36(3):422-5. PubMed ID: 16546416
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 12(4):240-4. PubMed ID: 9744474
    [TBL] [Abstract][Full Text] [Related]  

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

  • 20. 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; 50(1):74-8. PubMed ID: 8160756
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.