147 related articles for article (PubMed ID: 9233560)
1. Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.
Dhermy D; Galand C; Bournier O; Boulanger L; Cynober T; Schismanoff PO; Bursaux E; Tchernia G; Boivin P; Garbarz M
Br J Haematol; 1997 Jul; 98(1):32-40. PubMed ID: 9233560
[TBL] [Abstract][Full Text] [Related]
2. 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; 88(11):4366-74. PubMed ID: 8943874
[TBL] [Abstract][Full Text] [Related]
3. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population.
Yawata Y; Kanzaki A; Yawata A; Doerfler W; Ozcan R; Eber SW
Int J Hematol; 2000 Feb; 71(2):118-35. PubMed ID: 10745622
[TBL] [Abstract][Full Text] [Related]
4. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
Jenkins PB; Abou-Alfa GK; Dhermy D; Bursaux E; Féo C; Scarpa AL; Lux SE; Garbarz M; Forget BG; Gallagher PG
J Clin Invest; 1996 Jan; 97(2):373-80. PubMed ID: 8567957
[TBL] [Abstract][Full Text] [Related]
5. The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect.
Dhermy D; Burnier O; Bourgeois M; Grandchamp B
Mol Membr Biol; 1999; 16(4):305-12. PubMed ID: 10766130
[TBL] [Abstract][Full Text] [Related]
6. 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; 319(10):913-9. PubMed ID: 8977772
[TBL] [Abstract][Full Text] [Related]
7. Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane.
Lima PR; Baratti MO; Chiattone ML; Costa FF; Saad ST
Eur J Haematol; 2005 May; 74(5):396-401. PubMed ID: 15813913
[TBL] [Abstract][Full Text] [Related]
8. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.
Eber SW; Gonzalez JM; Lux ML; Scarpa AL; Tse WT; Dornwell M; Herbers J; Kugler W; Ozcan R; Pekrun A; Gallagher PG; Schröter W; Forget BG; Lux SE
Nat Genet; 1996 Jun; 13(2):214-8. PubMed ID: 8640229
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis.
Jarolim P; Rubin HL; Brabec V; Chrobak L; Zolotarev AS; Alper SL; Brugnara C; Wichterle H; Palek J
Blood; 1995 Feb; 85(3):634-40. PubMed ID: 7530501
[TBL] [Abstract][Full Text] [Related]
11. Hereditary spherocytosis (HS) due to loss of anion exchange transporter.
Iolascon A; Miraglia del Giudice E; Perrotta S; Pinto L; Fiorelli G; Cappellini DM; Vasseur C; Bursaux E; Cutillo S
Haematologica; 1992; 77(6):450-6. PubMed ID: 1289181
[TBL] [Abstract][Full Text] [Related]
12. Coexistence of hereditary spherocytosis (HS) due to band 3 deficiency and beta-thalassaemia trait: partial correction of HS phenotype.
Miraglia del Giudice E; Perrotta S; Nobili B; Pinto L; Cutillo L; Iolascon A
Br J Haematol; 1993 Nov; 85(3):553-7. PubMed ID: 8136278
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Ankyrin deficiency in dominant hereditary spherocytosis: report of three cases.
Iolascon A; Miraglia del Giudice E; Camaschella C; Pinto L; Nobili B; Perrotta S; Cutillo S
Br J Haematol; 1991 Aug; 78(4):551-4. PubMed ID: 1832935
[TBL] [Abstract][Full Text] [Related]
15. Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited hereditary spherocytosis in the Japanese population.
Inoue T; Kanzaki A; Yawata A; Wada H; Okamoto N; Takahashi M; Sugihara T; Yamada O; Yawata Y
Int J Hematol; 1994 Dec; 60(4):227-38. PubMed ID: 7894027
[TBL] [Abstract][Full Text] [Related]
16. [Hereditary spherocytosis: one year study of erythrocyte membrane proteins].
Tshilolo L; Kagambega F; Sztern B; Vertongen F; Gulbis B
Rev Med Brux; 1998 Oct; 19(5 Pt 1):417-23. PubMed ID: 9844481
[TBL] [Abstract][Full Text] [Related]
17. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation.
Inaba M; Yawata A; Koshino I; Sato K; Takeuchi M; Takakuwa Y; Manno S; Yawata Y; Kanzaki A; Sakai J; Ban A; Ono K; Maede Y
J Clin Invest; 1996 Apr; 97(8):1804-17. PubMed ID: 8621763
[TBL] [Abstract][Full Text] [Related]
18. Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.
Alloisio N; Texier P; Vallier A; Ribeiro ML; Morlé L; Bozon M; Bursaux E; Maillet P; Gonçalves P; Tanner MJ; Tamagnini G; Delaunay J
Blood; 1997 Jul; 90(1):414-20. PubMed ID: 9207478
[TBL] [Abstract][Full Text] [Related]
19. Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis.
Savvides P; Shalev O; John KM; Lux SE
Blood; 1993 Nov; 82(10):2953-60. PubMed ID: 8219186
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
