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Journal Abstract Search

517 related items for PubMed ID: 31084366

  • 1. Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; HBB: c.442T>C)] on the β-Globin Gene.
    Su Q, Chen S, Wu L, Tian R, Yang X, Huang X, Chen Y, Peng Z, Chen J.
    Hemoglobin; 2019 Jan; 43(1):7-11. PubMed ID: 31084366
    [Abstract] [Full Text] [Related]

  • 2. Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
    Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM.
    Hemoglobin; 2016 Jan; 40(2):75-84. PubMed ID: 26635043
    [Abstract] [Full Text] [Related]

  • 3. Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia.
    Pedroso GA, Kimura EM, Santos MNN, Albuquerque DM, Ferruzzi JLH, Jorge SE, Costa FF, Saad STO, Sonati MF.
    Hemoglobin; 2017 May; 41(3):203-208. PubMed ID: 28670945
    [Abstract] [Full Text] [Related]

  • 4. A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo.
    Hasan KN, Sufian A, Mazumder AK, Khaleque MA, Rahman M, Akhteruzzaman S.
    Hemoglobin; 2019 May; 43(3):162-165. PubMed ID: 31339392
    [Abstract] [Full Text] [Related]

  • 5. Hb Alesha [β67(E11)Val→Met (GTG>ATG); HBB: c.202G > A] Found in a Chinese Girl.
    Jiang H, Yan JM, Zhou JY, Li DZ.
    Hemoglobin; 2016 Nov; 40(6):420-421. PubMed ID: 28361590
    [Abstract] [Full Text] [Related]

  • 6. Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.
    Moassas F, Nweder MS, Murad H.
    BMC Pediatr; 2019 Feb 18; 19(1):61. PubMed ID: 30777047
    [Abstract] [Full Text] [Related]

  • 7. A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
    Cappabianca MP, Colosimo A, Sabatucci A, Dainese E, Di Biagio P, Piscitelli R, Sarra O, Zei D, Amato A.
    Hemoglobin; 2017 Jan 18; 41(1):53-55. PubMed ID: 28391745
    [Abstract] [Full Text] [Related]

  • 8. 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 18; 43(3):210-213. PubMed ID: 31456457
    [Abstract] [Full Text] [Related]

  • 9. A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.
    Bienz MN, Hsia C, Waye JS, Bode M, Solh Z.
    Hemoglobin; 2019 Mar 18; 43(2):129-131. PubMed ID: 31246535
    [Abstract] [Full Text] [Related]

  • 10. Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.
    Satthakarn S, Boonmee S, Panyasai S.
    Hemoglobin; 2020 Nov 18; 44(6):385-390. PubMed ID: 33222574
    [Abstract] [Full Text] [Related]

  • 11. Hb Wilde and Hb Patagonia: two novel elongated beta-globin variants causing dominant beta-thalassemia.
    Scheps KG, Hasenahuer MA, Parisi G, Fornasari MS, Pennesi SP, Erramouspe B, Basack FN, Veber ES, Aversa L, Elena G, Varela V.
    Eur J Haematol; 2015 Jun 18; 94(6):498-503. PubMed ID: 25284604
    [Abstract] [Full Text] [Related]

  • 12. Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β0-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia.
    Li Y, Yan JM, Zhou JY, Lu YC, Li DZ.
    Hemoglobin; 2017 Jan 18; 41(1):47-49. PubMed ID: 28366026
    [Abstract] [Full Text] [Related]

  • 13. The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.
    Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L.
    Eur J Med Genet; 2016 Aug 18; 59(8):355-62. PubMed ID: 27263053
    [Abstract] [Full Text] [Related]

  • 14. Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia.
    Vinciguerra M, Passarello C, Cassarà F, Leto F, Cannata M, Calvaruso G, Di Maggio R, Renda D, Maggio A, Giambona A.
    Int J Lab Hematol; 2016 Feb 18; 38(1):17-26. PubMed ID: 26418075
    [Abstract] [Full Text] [Related]

  • 15. A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia.
    Jiang F, Huang LY, Chen GL, Zhou JY, Xie XM, Li DZ.
    Hemoglobin; 2017 Jan 18; 41(1):59-60. PubMed ID: 28460555
    [Abstract] [Full Text] [Related]

  • 16. New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].
    Phylipsen M, Harteveld CL, de Metz M, Gallivan MV, Arkesteijn SG, Luo HY, Chui DH, Giordano PC.
    Hemoglobin; 2010 Jan 18; 34(5):445-50. PubMed ID: 20854118
    [Abstract] [Full Text] [Related]

  • 17. 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 18; 34(5):556-8. PubMed ID: 22471768
    [Abstract] [Full Text] [Related]

  • 18. Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2.
    Nuinoon M, Thipthara O, Fucharoen S.
    Hemoglobin; 2019 Jan 18; 43(1):52-55. PubMed ID: 31106603
    [Abstract] [Full Text] [Related]

  • 19. Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.
    Carrocini GCS, Venancio LPR, Pessoa VLR, Lobo CLC, Bonini-Domingos CR.
    Hemoglobin; 2017 Jan 18; 41(1):12-15. PubMed ID: 28366028
    [Abstract] [Full Text] [Related]

  • 20. Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.
    Qiu Y, Huang Y, Chen P, Wei S, Su Q, Zhang Z, Yang Z, Ye L, Huang J, Shen X, Mo W.
    Hemoglobin; 2020 Nov 18; 44(6):402-405. PubMed ID: 33198537
    [Abstract] [Full Text] [Related]

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