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Journal Abstract Search

1814 related items for PubMed ID: 11042028

  • 1. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
    Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A, Vrettou C, Stamoulakatou A, Kanavakis E.
    Blood Cells Mol Dis; 2000 Aug; 26(4):276-84. PubMed ID: 11042028
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  • 2. Dominantly Inherited beta-Thalassemia.
    Efremov GD.
    Hemoglobin; 2007 Aug; 31(2):193-207. PubMed ID: 17486503
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  • 3. Further identification of the hyperunstable alpha-globin chain variant Hb Heraklion [codons 36/37 (-CCC); Pro-->0 (alpha1)] in Greek cases with co-inherited alpha+-thalassemia mutations.
    Douna V, Papassotiriou I, Metaxotou-Mavrommati A, Stamoulakatou A, Liapi D, Kampourakis D, Tsilimigaki A, Kanavakis E, Traeger-Synodinos J.
    Hemoglobin; 2008 Aug; 32(4):379-85. PubMed ID: 18654888
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  • 4. A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases.
    Douna V, Papassotiriou I, Garoufi A, Georgouli E, Ladis V, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J.
    Hemoglobin; 2008 Aug; 32(4):361-9. PubMed ID: 18654886
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  • 5. A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.
    Murru S, Poddie D, Sciarratta GV, Agosti S, Baffico M, Melevendi C, Pirastu M, Cao A.
    Hum Mutat; 1992 Aug; 1(2):124-8. PubMed ID: 1301199
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  • 6. Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
    Douna V, Papassotiriou I, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J.
    Hemoglobin; 2008 Aug; 32(6):592-5. PubMed ID: 19065338
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  • 7. Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu→Pro (α2)].
    Traeger-Synodinos J, Douna V, Papassotiriou I, Stamoulakatou A, Ladis V, Siahanidou T, Fylaktou I, Kanavakis E.
    Hemoglobin; 2010 Aug; 34(5):430-8. PubMed ID: 20854116
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  • 8. Mutational spectrum of delta-globin gene in the Portuguese population.
    Morgado A, Picanço I, Gomes S, Miranda A, Coucelo M, Seuanes F, Seixas MT, Romão L, Faustino P.
    Eur J Haematol; 2007 Nov; 79(5):422-8. PubMed ID: 17916081
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  • 10. Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia.
    Wajcman H, Traeger-Synodinos J, Papassotiriou I, Giordano PC, Harteveld CL, Baudin-Creuza V, Old J.
    Hemoglobin; 2008 Nov; 32(4):327-49. PubMed ID: 18654884
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  • 12. Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
    Coleman MB, Lu ZH, Smith CM, Adams JG, Harrell A, Plonczynski M, Steinberg MH.
    J Clin Invest; 1995 Feb; 95(2):503-9. PubMed ID: 7860732
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  • 13. Molecular mechanisms of thalassemia in southeast Asia.
    Winichagoon P, Fucharoen S, Wilairat P, Fukumaki Y.
    Southeast Asian J Trop Med Public Health; 1995 Feb; 26 Suppl 1():235-40. PubMed ID: 8629113
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  • 17. A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.
    Ropero P, Villegas A, Martínez M, Ataulfo González Fernández F, Benavente C, Mateo M.
    Ann Hematol; 2005 Sep; 84(9):584-7. PubMed ID: 15977037
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