These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

209 related articles for article (PubMed ID: 35099593)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.
    Qin L; Nie Y; Zhang H; Chen L; Zhang D; Lin Y; Ru K
    J Hum Genet; 2020 Apr; 65(4):427-434. PubMed ID: 31980736
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. [Clinical characteristics and genetic analysis of hereditary spherocytosis caused by mutations of ANK1 and SPTB genes].
    Gong J; He XL; Zou RY; Chen KK; You YL; Zou H; Tian X; Zhu CG
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Apr; 21(4):370-374. PubMed ID: 31014431
    [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. A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.
    Wang Y; Liu T; Jia C; Xiao L; Wang W; Zhang Y; Xiang Y; Huang L; Yu J
    BMC Med Genomics; 2024 Aug; 17(1):206. PubMed ID: 39135028
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel ANK1 loss-of-function mutations in Chinese families with hereditary spherocytosis.
    Hao L; Li S; Ma D; Chen S; Zhang B; Xiao D; Zhang J; Jiang N; Jiang S; Ma J
    J Cell Mol Med; 2019 Jun; 23(6):4454-4463. PubMed ID: 31016877
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genotype-degree of hemolysis correlation in hereditary spherocytosis.
    Shi Y; Li Y; Yang X; Li X; Peng G; Zhao X; Liu X; Zhao Y; Hu J; Hu X; Zhang B; Zhou K; Yang Y; Xiong Y; Li J; Fan H; Yang W; Ye L; Jing L; Zhang L; Zhang F
    BMC Genomics; 2023 Jun; 24(1):304. PubMed ID: 37280519
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. A novel
    Liu Y; Zheng J; Song L; Fang Y; Sun C; Li N; Liu G; Shu J
    Exp Ther Med; 2020 Oct; 20(4):3253-3259. PubMed ID: 32855695
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.