BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

182 related articles for article (PubMed ID: 1498324)

  • 1. 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; 80(4):1066-73. PubMed ID: 1498324
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain.
    Garbarz M; Lecomte MC; Féo C; Devaux I; Picat C; Lefebvre C; Galibert F; Gautero H; Bournier O; Galand C
    Blood; 1990 Apr; 75(8):1691-8. PubMed ID: 2328319
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.
    Garbarz M; Tse WT; Gallagher PG; Picat C; Lecomte MC; Galibert F; Dhermy D; Forget BG
    J Clin Invest; 1991 Jul; 88(1):76-81. PubMed ID: 2056132
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A deletional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin Tokyo (beta 220/216).
    Kanzaki A; Rabodonirina M; Yawata Y; Wilmotte R; Wada H; Ata K; Yamada O; Akatsuka J; Iyori H; Horiguchi M
    Blood; 1992 Oct; 80(8):2115-21. PubMed ID: 1391962
    [TBL] [Abstract][Full Text] [Related]  

  • 5. An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216).
    Tse WT; Gallagher PG; Pothier B; Costa FF; Scarpa A; Delaunay J; Forget BG
    Blood; 1991 Jul; 78(2):517-23. PubMed ID: 2070088
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis.
    Basserès DS; Pranke PH; Sales TS; Costa FF; Saad ST
    Br J Haematol; 1997 Jun; 97(3):579-85. PubMed ID: 9207403
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.
    Gallagher PG; Tse WT; Costa F; Scarpa A; Boivin P; Delaunay J; Forget BG
    J Biol Chem; 1991 Aug; 266(23):15154-9. PubMed ID: 1840591
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis.
    Qualtieri A; Pasqua A; Bisconte MG; Le Pera M; Brancati C
    Br J Haematol; 1997 May; 97(2):273-8. PubMed ID: 9163587
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular defect of truncated beta-spectrin associated with hereditary elliptocytosis. Beta-spectrin Gottingen.
    Yoon SH; Yu H; Eber S; Prchal JT
    J Biol Chem; 1991 May; 266(13):8490-4. PubMed ID: 2022662
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide.
    Floyd PB; Gallagher PG; Valentino LA; Davis M; Marchesi SL; Forget BG
    Blood; 1991 Sep; 78(5):1364-72. PubMed ID: 1878597
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes.
    Lecomte MC; Garbarz M; Grandchamp B; Féo C; Gautero H; Devaux I; Bournier O; Galand C; d'Auriol L; Galibert F
    Blood; 1989 Aug; 74(3):1126-33. PubMed ID: 2568862
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. Abnormal tryptic peptide from the spectrin alpha-chain resulting from alpha- or beta-chain mutations: two genetically distinct forms of the Sp alpha I/74 variant.
    Lecomte MC; Gautero H; Garbarz M; Boivin P; Dhermy D
    Br J Haematol; 1990 Nov; 76(3):406-13. PubMed ID: 2261350
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin alpha I variants.
    Lecomte MC; Garbarz M; Gautero H; Bournier O; Galand C; Boivin P; Dhermy D
    Br J Haematol; 1993 Nov; 85(3):584-95. PubMed ID: 8136282
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Elliptocytosis-associated spectrin Rouen (beta 220/218) has a truncated but still phosphorylatable beta chain.
    Lecomte MC; Gautero H; Bournier O; Galand C; Lahary A; Vannier JP; Garbarz M; Delaunay J; Tchernia G; Boivin P
    Br J Haematol; 1992 Feb; 80(2):242-50. PubMed ID: 1550783
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.
    Gallagher PG; Roberts WE; Benoit L; Speicher DW; Marchesi SL; Forget BG
    Blood; 1993 Oct; 82(7):2210-5. PubMed ID: 8400271
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A deletional frameshift mutation in spectrin beta-gene associated with hereditary elliptocytosis in spectrin Napoli.
    Wilmotte R; Miraglia del Giudice E; Marechal J; Perrotta S; de Mattia D; Delaunay J; Iolascon A
    Br J Haematol; 1994 Oct; 88(2):437-9. PubMed ID: 7803301
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.
    Parquet N; Devaux I; Boulanger L; Galand C; Boivin P; Lecomte MC; Dhermy D; Garbarz M
    Blood; 1994 Jul; 84(1):303-8. PubMed ID: 8018926
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular basis of Sp alpha I/65 hereditary elliptocytosis in North Africa: insertion of a TTG triplet between codons 147 and 149 in the alpha-spectrin gene from five unrelated families.
    Roux AF; Morlé F; Guetarni D; Colonna P; Sahr K; Forget BG; Delaunay J; Godet J
    Blood; 1989 Jun; 73(8):2196-201. PubMed ID: 2567189
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.
    Sahr KE; Tobe T; Scarpa A; Laughinghouse K; Marchesi SL; Agre P; Linnenbach AJ; Marchesi VT; Forget BG
    J Clin Invest; 1989 Oct; 84(4):1243-52. PubMed ID: 2794061
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.