BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

134 related articles for article (PubMed ID: 27709257)

  • 1. 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; 96(1):163-165. PubMed ID: 27709257
    [No Abstract]   [Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel beta-spectrin mutations in hereditary spherocytosis associated with decreased levels of mRNA.
    Maciag M; Płochocka D; Adamowicz-Salach A; Burzyńska B
    Br J Haematol; 2009 Aug; 146(3):326-32. PubMed ID: 19538529
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.
    Becker PS; Tse WT; Lux SE; Forget BG
    J Clin Invest; 1993 Aug; 92(2):612-6. PubMed ID: 8102379
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
    Zhao RQ; Jiang F; Li J; Zhou JY; Tang XW; Li FT; Chen LQ; Li DZ
    Int J Lab Hematol; 2021 Dec; 43(6):e294-e297. PubMed ID: 33974364
    [No Abstract]   [Full Text] [Related]  

  • 6. beta-Spectrin S(ta) Bárbara: a novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism.
    Bassères DS; Duarte AS; Hassoun H; Costa FF; Saad ST
    Br J Haematol; 2001 Nov; 115(2):347-53. PubMed ID: 11703334
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Murine recessive hereditary spherocytosis, sph/sph, is caused by a mutation in the erythroid alpha-spectrin gene.
    Wandersee NJ; Birkenmeier CS; Gifford EJ; Mohandas N; Barker JE
    Hematol J; 2000; 1(4):235-42. PubMed ID: 11920196
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 98(10):2300-7. PubMed ID: 8941647
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China.
    Meng LL; Yuan SM; Tu CF; Lin G; Lu GX; Tan YQ
    Ann Hematol; 2019 Jan; 98(1):223-226. PubMed ID: 29961904
    [No Abstract]   [Full Text] [Related]  

  • 10. 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; 90(1):398-406. PubMed ID: 9207476
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Whole exome sequencing identifies a novel SPTB frameshift mutation causing hereditary spherocytosis in the Chinese population.
    Liu XD; Yang K; Xiao J; Huang H; Zhang XD; Huang JY
    Ann Hematol; 2022 Oct; 101(10):2355-2357. PubMed ID: 35726106
    [No Abstract]   [Full Text] [Related]  

  • 12. A novel essential splice site variant in SPTB in a large hereditary spherocytosis family.
    Nieminen TT; Liyanarachchi S; Comiskey DF; Wang Y; Li W; Hendrickson IV; Brock P; de la Chapelle A; He H
    Mol Genet Genomic Med; 2021 May; 9(5):e1641. PubMed ID: 33943044
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Beta-spectrin Promiss-ao: a translation initiation codon mutation of the beta-spectrin gene (ATG --> GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family.
    Bassères DS; Vicentim DL; Costa FF; Saad ST; Hassoun H
    Blood; 1998 Jan; 91(1):368-9. PubMed ID: 9414314
    [No Abstract]   [Full Text] [Related]  

  • 14. Molecular genetics of the human beta-spectrin gene.
    Forget BG; Chang JG; Coupal E; Stanislovitis P; Costa FF; Winkelmann JC; Agre PC; Marchesi VT; Watkins PC
    Trans Assoc Am Physicians; 1988; 101():149-54. PubMed ID: 2908371
    [No Abstract]   [Full Text] [Related]  

  • 15. Novel α-spectrin mutation in trans with α-spectrin causing severe neonatal jaundice from hereditary spherocytosis.
    Nussenzveig RH; Christensen RD; Prchal JT; Yaish HM; Agarwal AM
    Neonatology; 2014; 106(4):355-7. PubMed ID: 25277063
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 24(2):251-61. PubMed ID: 9714702
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Disorders of the membrane skeleton of erythrocytes in hereditary spherocytosis and elliptocytosis: significance of the molecular defect for pathogenesis and clinical severity].
    Eber SW
    Klin Padiatr; 1991; 203(4):284-95. PubMed ID: 1942935
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.
    Bogusławska DM; Skulski M; Machnicka B; Potoczek S; Kraszewski S; Kuliczkowski K; Sikorski AF
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681667
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.
    Fan LL; Liu JS; Huang H; Du R; Xiang R
    J Gene Med; 2019 Feb; 21(2-3):e3073. PubMed ID: 30690801
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 100(1):90-8. PubMed ID: 9450796
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.