BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

249 related articles for article (PubMed ID: 8136282)

  • 1. 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]  

  • 2. [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]  

  • 3. 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]  

  • 4. Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis.
    Coetzer T; Palek J; Lawler J; Liu SC; Jarolim P; Lahav M; Prchal JT; Wang W; Alter BP; Schewitz G
    Blood; 1990 Jun; 75(11):2235-44. PubMed ID: 2346784
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. A new abnormal variant of spectrin in black patients with hereditary elliptocytosis.
    Lecomte MC; Dhermy D; Solis C; Ester A; Féo C; Gautero H; Bournier O; Boivin P
    Blood; 1985 May; 65(5):1208-17. PubMed ID: 3922449
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Abnormal electrophoretic mobility of spectrin tetramers in hereditary elliptocytosis.
    Dhermy D; Garbarz M; Lecomte MC; Chaveroche I; Bournier O; Gautero H; Blot I; Boivin P
    Hum Genet; 1986 Dec; 74(4):363-7. PubMed ID: 3793099
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hereditary elliptocytosis: clinical, morphological and biochemical studies of 38 cases.
    Dhermy D; Garbarz M; Lecomte MC; Féo C; Bournier O; Chaveroche I; Gautero H; Galand C; Boivin P
    Nouv Rev Fr Hematol (1978); 1986; 28(3):129-40. PubMed ID: 3748797
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Prenatal diagnosis of hereditary elliptocytosis with molecular defect of spectrin.
    Dhermy D; Feo C; Garbarz M; Lecomte MC; Bournier O; Chaveroche I; Gautero H; Boivin P; Daffos F; Forestier F
    Prenat Diagn; 1987 Sep; 7(7):471-83. PubMed ID: 3671334
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis.
    Lawler J; Coetzer TL; Mankad VN; Moore RB; Prchal JT; Palek J
    Blood; 1988 Oct; 72(4):1412-5. PubMed ID: 3167214
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A molecular defect of spectrin in a subset of patients with hereditary elliptocytosis. Alterations in the alpha-subunit domain involved in spectrin self-association.
    Lawler J; Liu SC; Palek J; Prchal J
    J Clin Invest; 1984 Jun; 73(6):1688-95. PubMed ID: 6725555
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Unique alpha-spectrin mutant in a kindred with common hereditary elliptocytosis.
    Lane PA; Shew RL; Iarocci TA; Mohandas N; Hays T; Mentzer WC
    J Clin Invest; 1987 Mar; 79(3):989-96. PubMed ID: 3818958
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Sp alpha I/65 hereditary elliptocytosis in North Africa.
    Alloisio N; Guetarni D; Morlé L; Pothier B; Ducluzeau MT; Soun A; Colonna P; Clerc M; Philippe N; Delaunay J
    Am J Hematol; 1986 Oct; 23(2):113-22. PubMed ID: 3752066
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A large erythroid spectrin beta-chain variant.
    Johnson RM; Ravindranath Y; Brohn F; Hussain M
    Br J Haematol; 1992 Jan; 80(1):6-14. PubMed ID: 1536811
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical expression of alpha spectrin mutants in hereditary elliptocytosis.
    Palek J; Coetzer T
    Blood Cells; 1987; 13(1-2):237-50. PubMed ID: 3311220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis.
    Coetzer T; Lawler J; Prchal JT; Palek J
    Blood; 1987 Sep; 70(3):766-72. PubMed ID: 3620700
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.