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Journal Abstract Search

139 related items for PubMed ID: 10206681

  • 1. alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online.
    Ayala S, Colomer D, Gelpí JL, Corrons JL.
    Hum Mutat; 1998; 11(5):412. PubMed ID: 10206681
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  • 4. 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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  • 6. Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease.
    Viprakasit V, Tanphaichitr VS, Veerakul G, Chinchang W, Petrarat S, Pung-Amritt P, Higgs DR.
    Am J Hematol; 2004 Mar; 75(3):157-63. PubMed ID: 14978697
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  • 7. Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques.
    Joly P, Pégourie B, Courby S, Barro C, Besson G, Cohen L, Garcia C, Francina A.
    Hemoglobin; 2008 Mar; 32(4):411-7. PubMed ID: 18654892
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  • 8. [Analysis of the non-deletion alpha-thalassemia mutations by PCR temperature gradient gel electrophoresis].
    Zhao Y, Xu X, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Feb; 18(1):51-5. PubMed ID: 11172644
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  • 9. Haemoglobin Lleida: a new alpha 2-globin variant (12 bp deletion) with mild thalassaemic phenotype.
    Ayala S, Colomer D, Pujades A, Aymerich M, Vives Corrons JL.
    Br J Haematol; 1996 Sep; 94(4):639-44. PubMed ID: 8826886
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  • 11. [Genetic screening for alpha-thalassemia deletional determinants by GapPCR method].
    Katol J, Takao M, Ideguchi H, Sawada H, Kawashima H, Ono J.
    Rinsho Byori; 2006 Nov; 54(11):1095-100. PubMed ID: 17240829
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  • 12. Laboratory diagnosis of a compound heterozygosity for Hb Hekinan [alpha27(B8) Glu-Asp] and a deletional alpha-thalassaemia 2 in Thailand.
    Chunpanich S, Ayukarn K, Sanchaisuriya K, Fucharoen G, Fucharoen S.
    Clin Lab Haematol; 2004 Oct; 26(5):355-8. PubMed ID: 15485467
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  • 13. A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).
    Martin G, Villegas A, González FA, Ropero P, Hojas R, Polo M, Mateo M, Salvador M, Benavente C.
    Hemoglobin; 2005 Oct; 29(2):113-7. PubMed ID: 15921163
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  • 14. Nondeletional alpha-thalassemia: first description of alpha Hph alpha and alpha Nco alpha mutations in a Spanish population.
    Ayala S, Colomer D, Aymerich M, Pujades A, Vives-Corrons JL.
    Am J Hematol; 1996 Jul; 52(3):144-9. PubMed ID: 8756078
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  • 15. A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alpha1 gene.
    Poodt J, Martens HA, Walsh IB, Felix-Schollaart B, Hermans MH.
    Hemoglobin; 2006 Jul; 30(4):471-7. PubMed ID: 16987802
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  • 16. A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
    Feriotto G, Salvatori F, Finotti A, Breveglieri G, Venturi M, Zuccato C, Bianchi N, Borgatti M, Lampronti I, Mancini I, Massei F, Favre C, Gambari R.
    Acta Haematol; 2008 Jul; 119(1):28-37. PubMed ID: 18230963
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  • 17. Alpha-thalassemia phenotype induced by the new IVS-II-2 (T --> A) splice donor site mutation on the alpha2-globin gene.
    Harteveld CL, Jebbink MC, van der Lely N, van Delft P, Akkermans N, Arkesteyn S, Giordano PC.
    Hemoglobin; 2006 Jul; 30(1):3-7. PubMed ID: 16540408
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  • 18. Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a new α-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.
    Bento C, Oliveira AC, Neves J, Gameiro M, Cunha E, Coucelo M, Costa RM, Barbot J, Costa E, Fernández-Lago C, Ribeiro ML.
    Hemoglobin; 2012 Jul; 36(6):517-25. PubMed ID: 23181747
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  • 19. First description of a frameshift mutation in the alpha1-globin gene associated with alpha-thalassaemia.
    Ayala S, Colomer D, Aymerich M, Abella E, Vives Corrons JL.
    Br J Haematol; 1997 Jul; 98(1):47-50. PubMed ID: 9233562
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  • 20. Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.
    Joly P, Szymanowicz A, Neyron MJ, Zine A, Wajcman H, Francina A.
    Hemoglobin; 2010 Jul; 34(4):366-73. PubMed ID: 20642334
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