BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 3014870)

  • 1. Characterization of a spontaneous mutation to a beta-thalassemia allele.
    Kazazian HH; Orkin SH; Boehm CD; Goff SC; Wong C; Dowling CE; Newburger PE; Knowlton RG; Brown V; Donis-Keller H
    Am J Hum Genet; 1986 Jun; 38(6):860-7. PubMed ID: 3014870
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Characterization of a spontaneous mutation in beta-thalassemia associated with advanced paternal age.
    Chehab FF; Winterhalter KH; Kan YW
    Blood; 1989 Aug; 74(2):852-4. PubMed ID: 2665856
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo initiation codon mutation (ATG-->ACG) of the beta-globin gene causing beta-thalassemia in a Swiss family.
    Beris P; Darbellay R; Speiser D; Kirchner V; Miescher PA
    Am J Hematol; 1993 Mar; 42(3):248-53. PubMed ID: 8094943
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Double heterozygosity for the codon beta 39 C-to-T nonsense mutation and a triplicate alpha-globin gene locus can cause "dominantly" inherited beta-thalassemia intermedia.
    Rhodes SL; Plonczynski M; Harrell A; Li J; Safaya S; Files JC; Steinberg MH
    Am J Med Sci; 1999 May; 317(5):341-5. PubMed ID: 10334122
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia.
    Jankovic L; Dimovski AJ; Kollia P; Karageorga M; Loukopoulos D; Huisman TH
    Int J Hematol; 1991 Aug; 54(4):289-93. PubMed ID: 1777603
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.
    Old JM; Heath C; Fitches A; Thein SL; Jeffreys AJ; Petrou M; Modell B; Weatherall DJ
    J Med Genet; 1986 Feb; 23(1):14-8. PubMed ID: 3005579
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family.
    Murru S; Loudianos G; Porcu S; Sciarratta GV; Agosti S; Parodi MI; Cao A; Pirastu M
    Br J Haematol; 1992 Jun; 81(2):283-7. PubMed ID: 1643026
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene.
    Moi P; Loudianos G; Lavinha J; Murru S; Cossu P; Casu R; Oggiano L; Longinotti M; Cao A; Pirastu M
    Blood; 1992 Jan; 79(2):512-6. PubMed ID: 1309671
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Interaction between deletion delta-thalassemia and beta zero-thalassemia (codon 39 nonsense mutation) in a Sardinian family.
    Galanello R; Podda A; Melis MA; Monne M; Cao A
    Prog Clin Biol Res; 1989; 316B():113-21. PubMed ID: 2482492
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thalassemia intermedia as a result of heterozygosis for beta 0 -thalassemia and alpha alpha alpha anti-3,7 genotype in a Brazilian patient.
    Kimura EM; Grignoli CR; Pinheiro VR; Costa FF; Sonati MF
    Braz J Med Biol Res; 2003 Jun; 36(6):699-701. PubMed ID: 12792697
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Detection of beta and delta globin gene mutations by PCR and direct DNA sequencing in an individual with normal HbA2 beta thalassemia.
    Trent RJ; Thein SL
    Pathology; 1992 Jan; 24(1):15-8. PubMed ID: 1349739
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Thalassemia intermedia caused by interaction of IVS-1 1(G--A) mutation in the beta-globin gene and heterozygotic triplication in the alpha-globin gene].
    Martínez-López J; Galán García P; del Río E; Baiget M; Gilsanz Rodríguez F
    Rev Clin Esp; 1998 Mar; 198(3):153-5. PubMed ID: 9586437
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The silent carrier allele: beta thalassemia without a mutation in the beta-globin gene or its immediate flanking regions.
    Semenza GL; Delgrosso K; Poncz M; Malladi P; Schwartz E; Surrey S
    Cell; 1984 Nov; 39(1):123-8. PubMed ID: 6091904
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.
    Guida S; Giglioni B; Comi P; Ottolenghi S; Camaschella C; Saglio G
    EMBO J; 1984 Apr; 3(4):785-7. PubMed ID: 6327288
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia.
    Kan YW; Lee KY; Furbetta M; Angius A; Cao A
    N Engl J Med; 1980 Jan; 302(4):185-8. PubMed ID: 6927915
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (
    Hasan KN; Sufian A; Mazumder AK; Khaleque MA; Rahman M; Akhteruzzaman S
    Hemoglobin; 2019 May; 43(3):162-165. PubMed ID: 31339392
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular analysis of beta zero-thalassemia intermedia in Sardinia.
    Galanello R; Dessi E; Melis MA; Addis M; Sanna MA; Rosatelli C; Argiolu F; Giagu N; Turco MP; Cacace E
    Blood; 1989 Aug; 74(2):823-7. PubMed ID: 2473806
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The beta-globin gene on the Chinese delta beta-thalassemia chromosome carries a promoter mutation.
    Atweh GF; Zhu XX; Brickner HE; Dowling CH; Kazazian HH; Forget BG
    Blood; 1987 Nov; 70(5):1470-4. PubMed ID: 2822174
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene.
    Sanguansermsri T; Pape M; Laig M; Hundrieser J; Flatz G
    Hemoglobin; 1990; 14(2):157-68. PubMed ID: 2272839
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions.
    Fucharoen S; Fucharoen G; Fucharoen P; Fukumaki Y
    J Biol Chem; 1989 May; 264(14):7780-3. PubMed ID: 2542242
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.