BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 33943044)

  • 1. 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]  

  • 2. [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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Identification of a Novel Mutation of β-Spectrin in Hereditary Spherocytosis Using Whole Exome Sequencing.
    Bogusławska DM; Skulski M; Machnicka B; Potoczek S; Kraszewski S; Kuliczkowski K; Sikorski AF
    Int J Mol Sci; 2021 Oct; 22(20):. PubMed ID: 34681667
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deciphering molecular heterogeneity of Indian families with hereditary spherocytosis using targeted next-generation sequencing: First South Asian study.
    Aggarwal A; Jamwal M; Sharma P; Sachdeva MUS; Bansal D; Malhotra P; Das R
    Br J Haematol; 2020 Mar; 188(5):784-795. PubMed ID: 31602632
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Concomitant Hereditary Spherocytosis and Pyruvate Kinase Deficiency in a Spanish Family with Chronic Hemolytic Anemia: Contribution of Laser Ektacytometry to Clinical Diagnosis.
    Vives Corrons JL; Krishnevskaya E; Montllor L; Leguizamon V; Garcia Bernal M
    Cells; 2022 Mar; 11(7):. PubMed ID: 35406697
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Exome sequencing confirms molecular diagnoses in 38 Chinese families with hereditary spherocytosis.
    Wang R; Yang S; Xu M; Huang J; Liu H; Gu W; Zhang X
    Sci China Life Sci; 2018 Aug; 61(8):947-953. PubMed ID: 29572776
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next-generation sequencing in a Chinese family.
    Zhao RQ; Jiang F; Li J; Zhou JY; Tang XW; Li FT; Chen LQ; Li DZ
    Int J Lab Hematol; 2021 Dec; 43(6):e294-e297. PubMed ID: 33974364
    [No Abstract]   [Full Text] [Related]  

  • 18. The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing.
    Fan J; Yao L; Lu D; Yao Y; Sun Y; Tian Y; Mou L; Chen L; Zhao L; Qiao S; Hu S; Zhu Y
    J Hum Genet; 2021 Dec; 66(12):1153-1158. PubMed ID: 34140613
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case report: Genetic analysis of a novel intronic inversion variant in the
    Xi B; Liu S; Zhu Y; Zhang D; Zhang Y; Liu A
    Front Genet; 2023; 14():1309040. PubMed ID: 38111681
    [No Abstract]   [Full Text] [Related]  

  • 20. Hereditary spherocytosis caused by copy number variation in SPTB gene identified through targeted next-generation sequencing.
    Jang W; Kim J; Chae H; Kim M; Koh KN; Park CJ; Kim Y
    Int J Hematol; 2019 Aug; 110(2):250-254. PubMed ID: 30903564
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.