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154 related items for PubMed ID: 19486366

  • 1. Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.
    Agarwal S, Tamhankar PM, Kumar R, Dalal A.
    Int J Lab Hematol; 2010 Jun; 32(3):369-72. PubMed ID: 19486366
    [Abstract] [Full Text] [Related]

  • 2. Variable haematological and clinical presentation of β-thalassaemia carriers and homozygotes with the Poly A (T→C) mutation in the Indian population.
    Italia K, Sawant P, Surve R, Wadia M, Nadkarni A, Ghosh K, Colah R.
    Eur J Haematol; 2012 Aug; 89(2):160-4. PubMed ID: 22690826
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  • 3. Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.
    Bilgen T, Clark OA, Ozturk Z, Akif Yesilipek M, Keser I.
    Int J Lab Hematol; 2013 Feb; 35(1):26-30. PubMed ID: 22862814
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  • 4. Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.
    Fernandes AC, Shimmoto MM, Furuzawa GK, Vicari P, Figueiredo MS.
    Hemoglobin; 2011 Feb; 35(4):358-66. PubMed ID: 21797703
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  • 5. β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].
    Waye JS, Nakamura-Garrett LM, Eng B, Kanavakis E, Traeger-Synodinos J.
    Hemoglobin; 2011 Feb; 35(1):84-6. PubMed ID: 21250885
    [Abstract] [Full Text] [Related]

  • 6. Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.
    Zhang J, He J, Mao X, Zeng X, Chen H, Su J, Zhu B.
    BMJ Open; 2017 Jan 31; 7(1):e013367. PubMed ID: 28143837
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  • 7. Coexistence of two β-globin gene deletions in a Chinese girl with β-thalassemia minor.
    Huang G, Li P, Li YX, Ye LZ.
    Hemoglobin; 2014 Jan 31; 38(1):70-2. PubMed ID: 24200214
    [Abstract] [Full Text] [Related]

  • 8. Identification of three new nucleotide substitutions in the β-globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia.
    Vinciguerra M, Passarello C, Leto F, Cassarà F, Cannata M, Maggio A, Giambona A.
    Eur J Haematol; 2014 Jan 31; 92(5):444-9. PubMed ID: 24401016
    [Abstract] [Full Text] [Related]

  • 9. An interplay of alleviating mutations in the clinical phenotype of beta-thalassaemia intermedia.
    Nadkarni A, Sakaguchi T, Gorakshakar A, Phanasgaonkar S, Kiyama R, Colah R, Mohanty D.
    Clin Lab Haematol; 2004 Dec 31; 26(6):419-22. PubMed ID: 15596001
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  • 11. Hb Midnapore [β53(D4)Ala→Val; HBB: c.161C>T]: A Novel Hemoglobin Variant with a Structural Abnormality Associated with IVS-I-5 (G>C) (HBB: c.92+5G>C) Found in a Bengali Indian Family.
    Panja A, Chowdhury P, Basu A.
    Hemoglobin; 2016 Sep 31; 40(5):300-303. PubMed ID: 27690257
    [Abstract] [Full Text] [Related]

  • 12. The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.
    Garewal G, Das R, Awasthi A, Ahluwalia J, Marwaha RK.
    Eur J Haematol; 2007 Nov 31; 79(5):417-21. PubMed ID: 17900295
    [Abstract] [Full Text] [Related]

  • 13. Phenotypic presentation and underlying mutations in carriers of beta-thalassaemia and alpha-thalassaemia in the Danish immigrant population.
    Kornblit B, Hagve TA, Taaning P, Birgens H.
    Scand J Clin Lab Invest; 2007 Nov 31; 67(1):97-104. PubMed ID: 17365987
    [Abstract] [Full Text] [Related]

  • 14. A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces.
    Kumar R, Tamhankar PM, Panigrahi I, Dalal A, Agarwal S.
    Ann Hematol; 2009 Dec 31; 88(12):1269-71. PubMed ID: 19488752
    [No Abstract] [Full Text] [Related]

  • 15. Double Heterozygosity for Hb Durham-N.C. (HBB: c.344T>C) [β114(G16)Leu→Pro] and the IVS-I-110 (HBB: c.93-21G>A) Causing a Severe β-Thalassemia Phenotype.
    Cannata M, Cassarà F, Vinciguerra M, Licari P, Passarello C, Leto F, Lo Pinto C, Pitrolo L, Ganci R, Maggio A, Giambona A.
    Hemoglobin; 2019 May 31; 43(3):210-213. PubMed ID: 31456457
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  • 17. Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia.
    Huang G, Jiang WL, Rong KB, Li YX, Luo XL, Meng JX, Yu XY.
    Hemoglobin; 2010 Jan 31; 34(2):179-83. PubMed ID: 20353356
    [Abstract] [Full Text] [Related]

  • 18. A novel β-globin gene mutation HBB.c.22 G>C produces a hemoglobin variant (Hb Vellore) mimicking HbS in HPLC.
    Edison ES, Sathya M, Rajkumar SV, Nair SC, Srivastava A, Shaji RV.
    Int J Lab Hematol; 2012 Oct 31; 34(5):556-8. PubMed ID: 22471768
    [Abstract] [Full Text] [Related]

  • 19. Compound Heterozygosity for Hb Alperton (HBB: c.407C>T) and IVS-I-5 (G>C) (HBB: c.92+5G>C) Mutations Presenting as a Moderate Anemia in an Indian Family.
    Godbole KG, Ramachandran A, Karkamkar AS, Dalal AB.
    Hemoglobin; 2018 Mar 31; 42(2):141-142. PubMed ID: 29651865
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