BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 29961904)

  • 21. 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]  

  • 22. Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
    Häuser F; Rossmann H; Adenaeuer A; Shrestha A; Marandiuc D; Paret C; Faber J; Lackner KJ; Lämmle B; Beck O
    Int J Mol Sci; 2023 Nov; 24(23):. PubMed ID: 38069343
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Neonatal hereditary spherocytosis caused by a de novo frameshift mutation of the SPTB gene characterized by hydrops fetalis: A case report.
    Zhang Y; Shao S; Liu J; Zeng C; Han Y; Zhang X
    Medicine (Baltimore); 2021 Mar; 100(12):e24804. PubMed ID: 33761640
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.
    He Y; Jia S; Dewan RK; Liao N
    Gene; 2017 Sep; 627():556-562. PubMed ID: 28694211
    [TBL] [Abstract][Full Text] [Related]  

  • 26. [Genetic Analysis and Prenatal Diagnosis of a Family with Hereditary Spherocytosis Caused by a Novel Compound Heterozygous Mutation of SPTB Gene].
    Qin YM; Liao L; Deng XL; Huang J; Wei HY; Lin FQ
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2022 Apr; 30(2):552-558. PubMed ID: 35395996
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Hereditary spherocytosis due to a novel c.5798+1G>A variant of the SPTB gene].
    Liu H; Huang J; Jiang Y; Guo L; Xiao H; Wang H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jan; 37(1):17-20. PubMed ID: 31922588
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Genetic Analysis of a Chinese Pedigree with Hereditary Spherocytosis Caused by Copy Number Variation Deletion of
    Chen XL; Li JG; Men Q; Li X
    Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2023 Feb; 31(1):183-188. PubMed ID: 36765497
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.
    Du Z; Luo G; Wang K; Bing Z; Pan S
    BMC Pediatr; 2021 Jun; 21(1):291. PubMed ID: 34182956
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Targeted next-generation sequencing identifies a novel nonsense mutation in SPTB for hereditary spherocytosis: A case report of a Korean family.
    Shin S; Jang W; Kim M; Kim Y; Park SY; Park J; Yang YJ
    Medicine (Baltimore); 2018 Jan; 97(3):e9677. PubMed ID: 29505016
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. [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]  

  • 35. Three Novel Spectrin Variants in Jaundiced Neonates.
    Christensen RD; Agarwal AM; Yaish HM; Reading NS; O'Brien EA; Prchal JT
    Clin Pediatr (Phila); 2018 Jan; 57(1):19-26. PubMed ID: 28090778
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A previously unrecognized Ankyrin-1 mutation associated with Hereditary Spherocytosis in an Italian family.
    Lazzareschi I; Curatola A; Pedicelli C; Castiglia D; Buonsenso D; Gatto A; Attinà G; Valentini P
    Eur J Haematol; 2019 Nov; 103(5):523-526. PubMed ID: 31400153
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. [Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type Ⅰ].
    Li D; Li B; Li S; Li W; Wang Y; Guo X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Oct; 36(10):999-1001. PubMed ID: 31598945
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.