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Journal Abstract Search

187 related items for PubMed ID: 12185384

  • 1. beta-Spectrin São PauloII, a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNA.
    Bassères DS, Tavares AC, Costa FF, Saad ST.
    Braz J Med Biol Res; 2002 Aug; 35(8):921-5. PubMed ID: 12185384
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  • 3. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency.
    Hassoun H, Vassiliadis JN, Murray J, Njolstad PR, Rogus JJ, Ballas SK, Schaffer F, Jarolim P, Brabec V, Palek J.
    Blood; 1997 Jul 01; 90(1):398-406. PubMed ID: 9207476
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  • 6. A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao).
    Garbarz M, Galand C, Bibas D, Bournier O, Devaux I, Harousseau JL, Grandchamp B, Dhermy D.
    Br J Haematol; 1998 Jan 01; 100(1):90-8. PubMed ID: 9450796
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  • 7. Hereditary spherocytosis with spectrin deficiency related to null mutations of the beta-spectrin gene.
    Dhermy D, Galand C, Bournier O, Cynober T, Méchinaud F, Tchemia G, Garbarz M.
    Blood Cells Mol Dis; 1998 Jun 01; 24(2):251-61. PubMed ID: 9714702
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  • 8. Hereditary spherocytosis with spectrin deficiency due to an unstable truncated beta spectrin.
    Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M, Johnson CA, Palek J.
    Blood; 1996 Mar 15; 87(6):2538-45. PubMed ID: 8630421
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  • 9. Search for the candidate genes in dominant hereditary spherocytosis using linkage analysis.
    Garbarz M, Bibas D, Cynober T, Galand C, Bournier O, Devaux I, Tchernia G, Dhermy D.
    C R Acad Sci III; 1996 Oct 15; 319(10):913-9. PubMed ID: 8977772
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  • 10. Combination of two mutant alpha spectrin alleles underlies a severe spherocytic hemolytic anemia.
    Wichterle H, Hanspal M, Palek J, Jarolim P.
    J Clin Invest; 1996 Nov 15; 98(10):2300-7. PubMed ID: 8941647
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  • 11. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.
    Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK, Snyder LM, Chrobak L, Melrose WD, Brabec V, Palek J.
    Blood; 1996 Dec 01; 88(11):4366-74. PubMed ID: 8943874
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  • 13. A new frameshift mutation of the β-spectrin gene associated with hereditary spherocytosis.
    Bogusławska DM, Heger E, Machnicka B, Skulski M, Kuliczkowski K, Sikorski AF.
    Ann Hematol; 2017 Jan 01; 96(1):163-165. PubMed ID: 27709257
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  • 15. Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene.
    Garbarz M, Boulanger L, Pedroni S, Lecomte MC, Gautero H, Galand C, Boivin P, Feldman L, Dhermy D.
    Blood; 1992 Aug 15; 80(4):1066-73. PubMed ID: 1498324
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  • 20. Clinical and molecular evaluation of non-dominant hereditary spherocytosis.
    Miraglia del Giudice E, Nobili B, Francese M, D'Urso L, Iolascon A, Eber S, Perrotta S.
    Br J Haematol; 2001 Jan 15; 112(1):42-7. PubMed ID: 11167781
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