BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 30255572)

  • 1. Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha-spectrin gene defects.
    Bhatt N; Loew JM; Gallagher P; Mittal N
    Pediatr Blood Cancer; 2019 Jan; 66(1):e27480. PubMed ID: 30255572
    [No Abstract]   [Full Text] [Related]  

  • 2. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus.
    Bogardus H; Schulz VP; Maksimova Y; Miller BA; Li P; Forget BG; Gallagher PG
    Haematologica; 2014 Sep; 99(9):e168-70. PubMed ID: 24895341
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. Amino-acid substitution in alpha-spectrin commonly coinherited with nondominant hereditary spherocytosis.
    Tse WT; Gallagher PG; Jenkins PB; Wang Y; Benoit L; Speicher D; Winkelmann JC; Agre P; Forget BG; Marchesi SL
    Am J Hematol; 1997 Mar; 54(3):233-41. PubMed ID: 9067503
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Spectrin alpha IIa variant in dominant and non-dominant spherocytosis.
    Boivin P; Galand C; Devaux I; Lecomte MC; Garbarz M; Dhermy D
    Hum Genet; 1993 Sep; 92(2):153-6. PubMed ID: 8370581
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis.
    Gallagher PG; Forget BG
    Blood Cells Mol Dis; 1998 Dec; 24(4):539-43. PubMed ID: 9887280
    [No Abstract]   [Full Text] [Related]  

  • 13. Beta-Spectrin Deletion Responsible for Hereditary Spherocytosis: When New Technologies Are Not the Key to Success.
    Panizo Morgado E; Darnaude MT; Torres Mohedas J; Benedit M; Cervera Bravo Á
    J Pediatr Hematol Oncol; 2020 Oct; 42(7):e686-e688. PubMed ID: 32079985
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Beta-spectrinBari: a truncated beta-chain responsible for dominant hereditary spherocytosis.
    Perrotta S; Della Ragione F; Rossi F; Avvisati RA; Di Pinto D; De Mieri G; Scianguetta S; Mancusi S; De Falco L; Marano V; Iolascon A
    Haematologica; 2009 Dec; 94(12):1753-7. PubMed ID: 19608679
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. [Hereditary spherocytosis with intrahepatic cholestasis caused by SPTB gene mutation in a case].
    Zhang YD; Zuo NY; Zhang SS; Dong QW; Zhang SH; Ma L; Fu LB; Ding ZL
    Zhonghua Er Ke Za Zhi; 2019 Nov; 57(11):893-895. PubMed ID: 31665849
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.