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372 related items for PubMed ID: 18473247

  • 1. THE Hb S/beta+ -thalassemia phenotype demonstrates that the IVS-I (-2) (A>C) mutation is a mild beta-thalassemia allele.
    Schmugge M, Waye JS, Basran RK, Zurbriggen K, Frischknecht H.
    Hemoglobin; 2008; 32(3):303-7. PubMed ID: 18473247
    [Abstract] [Full Text] [Related]

  • 2. Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa.
    Frischknecht H, Troxler H, Greiner J, Hengartner H, Dutly F.
    Hemoglobin; 2008; 32(3):309-13. PubMed ID: 18473248
    [Abstract] [Full Text] [Related]

  • 3. First Spanish case of thalassemia major due to a compound heterozygosity for the IVS-II-848 (C --> A) and codon 39 (C --> T) mutations of the beta-globin gene.
    Ropero P, Villegas A, Muñoz J, Briceño O, Mora A, Salvador M, Polo M, González FA.
    Hemoglobin; 2006; 30(1):15-21. PubMed ID: 16540410
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. Spectrum of β-thalassemia mutations in the eastern province of Saudi Arabia.
    Al-Sultan A, Phanasgaonkar S, Suliman A, Al-Baqushi M, Nasrullah Z, Al-Ali A.
    Hemoglobin; 2011 Nov; 35(2):125-34. PubMed ID: 21417569
    [Abstract] [Full Text] [Related]

  • 6. Three new beta-thalassemia mutations with varying degrees of severity.
    Frischknecht H, Dutly F, Walker L, Nakamura-Garrett LM, Eng B, Waye JS.
    Hemoglobin; 2009 Nov; 33(3):220-5. PubMed ID: 19657836
    [Abstract] [Full Text] [Related]

  • 7. Spectrum of beta-globin gene mutations among thalassemia patients in the West Bank region of Palestine.
    Darwish HM, El-Khatib FF, Ayesh S.
    Hemoglobin; 2005 Nov; 29(2):119-32. PubMed ID: 15921164
    [Abstract] [Full Text] [Related]

  • 8. Coinheritance of Hb S [β6(A3)Glu→Val, GAG>GTG] with β0-thalassemia codon 17 (A>T) in a Thai patient.
    Pornprasert S, Panyasai S, Kongthai K, Treesuwan K.
    Hemoglobin; 2012 Nov; 36(3):265-9. PubMed ID: 22471390
    [Abstract] [Full Text] [Related]

  • 9. Molecular characterization of beta-thalassemia mutations in Guadeloupe.
    Romana M, Keclard L, Guillemin G, Lavocat E, Saint-Martin C, Berchel C, Mérault G.
    Am J Hematol; 1996 Dec; 53(4):228-33. PubMed ID: 8948659
    [Abstract] [Full Text] [Related]

  • 10. Two rare mutations in Turkey: IVS I.130(G-C) and IVS II.848(C-A).
    Nal N, Manguoglu AE, Sargin CF, Keser I, Kupesiz A, Yesilipek A, Luleci G.
    Clin Lab Haematol; 2005 Aug; 27(4):274-7. PubMed ID: 16048497
    [Abstract] [Full Text] [Related]

  • 11. 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; 79(5):417-21. PubMed ID: 17900295
    [Abstract] [Full Text] [Related]

  • 12. HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects.
    Lacerra G, Scarano C, Musollino G, Testa R, Prezioso R, Caruso DG, Lagona LF, Medulla E, Friscia MG, Gaudiano C, Carestia C.
    Ann Hematol; 2010 Feb; 89(2):127-34. PubMed ID: 19609526
    [Abstract] [Full Text] [Related]

  • 13. Sickle cell/β0-thalassemia associated with the 1393 bp deletion can be associated with a severe phenotype.
    Daniel Y, Hill K, Inusa B, Thein SL, Howard J.
    Hemoglobin; 2011 Feb; 35(4):406-10. PubMed ID: 21797706
    [Abstract] [Full Text] [Related]

  • 14. [Beta-thalassemia mutations and single nucleotide polymorphism at -158 of Ggamma-globin gene associated with altered levels of Hb F in beta-thalassemia heterozygotes].
    Chen JF, Long GF, Lin WX, Chen P.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Oct; 21(5):498-501. PubMed ID: 15476181
    [Abstract] [Full Text] [Related]

  • 15. Phenotypic expression and origin of the rare beta-thalassemia splice site mutation HBB:c.315 + 1G>T.
    Broquere C, Brudey K, Harteveld CL, Saint-Martin C, Elion J, Giordano PC, Romana M.
    Hemoglobin; 2010 Jun; 34(3):322-6. PubMed ID: 20524821
    [Abstract] [Full Text] [Related]

  • 16. A comparative study of Greek nondeletional hereditary persistence of fetal hemoglobin and beta-thalassemia compound heterozygotes.
    Papadakis MN, Patrinos GP, Tsaftaridis P, Loutradi-Anagnostou A.
    J Mol Med (Berl); 2002 Apr; 80(4):243-7. PubMed ID: 11976733
    [Abstract] [Full Text] [Related]

  • 17. Clinical phenotypes and molecular diagnosis in a hitherto interaction of Hb E/beta thalassemia syndrome (beta(E)/beta(-31), (A -->G)).
    Vathana N, Viprakasit V, Sanpakit K, Chinchang W, Veerakul G, Tanphaichitr V.
    J Med Assoc Thai; 2005 Nov; 88 Suppl 8():S66-71. PubMed ID: 16856429
    [Abstract] [Full Text] [Related]

  • 18. Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles.
    Frischknecht H, Troxler H, Dutly F, Walker L, Hohenadel BA, Eng B, Waye JS.
    Hemoglobin; 2010 Nov; 34(4):374-82. PubMed ID: 20642335
    [Abstract] [Full Text] [Related]

  • 19. Phenotype and genotype frequency of β-thalassemia and sickle cell disease carriers in Halkidiki, Northern Greece.
    Kalleas C, Anagnostopoulos K, Sinopoulou K, Delaki E, Margaritis D, Bourikas G, Tsatalas C, Kortsaris A, Tentes I.
    Hemoglobin; 2012 Nov; 36(1):64-72. PubMed ID: 22188117
    [Abstract] [Full Text] [Related]

  • 20. Novel beta-thalassemia trait (IVS I-1 G-->C) in a Japanese family.
    Fujihara N, Tozuka M, Ueno I, Yamauchi K, Nakagoshi R, Ishikawa S, Hirota M, Okumura N, Ishii E, Katsuyama T.
    Am J Hematol; 2003 Jan; 72(1):64-6. PubMed ID: 12508270
    [Abstract] [Full Text] [Related]

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