166 related articles for article (PubMed ID: 9609518)
1. Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.
Miraglia del Giudice E; Lombardi C; Francese M; Nobili B; Conte ML; Amendola G; Cutillo S; Iolascon A; Perrotta S
Br J Haematol; 1998 May; 101(2):251-4. PubMed ID: 9609518
[TBL] [Abstract][Full Text] [Related]
2. 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; 112(1):42-7. PubMed ID: 11167781
[TBL] [Abstract][Full Text] [Related]
3. High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.
Miraglia del Giudice E; Francese M; Nobili B; Morlé L; Cutillo S; Delaunay J; Perrotta S
J Pediatr; 1998 Jan; 132(1):117-20. PubMed ID: 9470011
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.
Park J; Jeong DC; Yoo J; Jang W; Chae H; Kim J; Kwon A; Choi H; Lee JW; Chung NG; Kim M; Kim Y
Clin Genet; 2016 Jul; 90(1):69-78. PubMed ID: 26830532
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family.
Dhermy D; Steen-Johnsen J; Bournier O; Hetet G; Cynober T; Tchernia G; Grandchamp B
Clin Lab Haematol; 2000 Dec; 22(6):329-36. PubMed ID: 11318798
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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; 87(6):2538-45. PubMed ID: 8630421
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Molecular basis of spectrin deficiency in beta spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis.
Hassoun H; Vassiliadis JN; Murray J; Yi SJ; Hanspal M; Ware RE; Winter SS; Chiou SS; Palek J
J Clin Invest; 1995 Dec; 96(6):2623-9. PubMed ID: 8675627
[TBL] [Abstract][Full Text] [Related]
19. A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrin.
Li S; Guo P; Mi L; Chai X; Xi K; Liu T; Lu L; Li J
Ann Hematol; 2022 Apr; 101(4):731-738. PubMed ID: 35099593
[TBL] [Abstract][Full Text] [Related]
20. SPTB related spherocytosis in a three-generation family presenting with kidney failure in adulthood due to co-occurrence of UMOD disease causing variant.
Meglic A; Debeljak M; Kovac J; Trampus Bakija A; Rajic V; Kojc N; Trebusak Podkrajsek K
Nefrologia (Engl Ed); 2020; 40(4):421-428. PubMed ID: 32113667
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
