BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

188 related articles for article (PubMed ID: 36463227)

  • 1. A novel variant of SLC4A1 for hereditary spherocytosis in a Chinese family: a case report and systematic review.
    Li J; Wang X; Zheng N; Wang X; Liu Y; Xue L
    BMC Med Genomics; 2022 Dec; 15(1):250. PubMed ID: 36463227
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A clinical and experimental study of adult hereditary spherocytosis in the Chinese population.
    Xue J; He Q; Xie XJ; Su AL; Cao SB
    Kaohsiung J Med Sci; 2020 Jul; 36(7):552-560. PubMed ID: 32133777
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Targeted next-generation sequencing identified a novel
    Sun Q; Xie Y; Wu P; Li S; Hua Y; Lu X; Zhao W
    Hematology; 2019 Dec; 24(1):583-587. PubMed ID: 31390973
    [No Abstract]   [Full Text] [Related]  

  • 5. Two different pathogenic gene mutations coexisted in the same hereditary spherocytosis family manifested with heterogeneous phenotypes.
    Shen H; Huang H; Luo K; Yi Y; Shi X
    BMC Med Genet; 2019 May; 20(1):90. PubMed ID: 31126250
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Partial pyruvate kinase deficiency aggravates the phenotypic expression of band 3 deficiency in a family with hereditary spherocytosis.
    van Zwieten R; van Oirschot BA; Veldthuis M; Dobbe JG; Streekstra GJ; van Solinge WW; Schutgens RE; van Wijk R
    Am J Hematol; 2015 Mar; 90(3):E35-9. PubMed ID: 25388786
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
    Shih YH; Huang YC; Lin CY; Lin HY; Kuo SF; Lin JS; Shen MC
    Medicine (Baltimore); 2023 Jan; 102(4):e32708. PubMed ID: 36705355
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic diagnosis for 26 paitents with hereditary spherocytosis.
    Bai L; Zheng L; Li B; Huang H; Shi X; Yi Y
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2023 Apr; 48(4):565-574. PubMed ID: 37385619
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel compound heterozygous mutations in the SPTA1 gene, causing hereditary spherocytosis in a neonate with Coombs‑negative hemolytic jaundice.
    Wang X; Liu A; Lu Y; Hu Q
    Mol Med Rep; 2019 Apr; 19(4):2801-2807. PubMed ID: 30816434
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification of a novel
    Wang X; Yi B; Mu K; Shen N; Zhu Y; Hu Q; Lu Y
    Oncotarget; 2017 Nov; 8(57):96791-96797. PubMed ID: 29228571
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis.
    Alshomar A; Ahmed AA; Rasheed Z; Alhumaydhi FA; Alsagaby S; Aljohani ASM; Alkhamiss AS; Alghsham R; Althwab SA; Khan MI; Fernández N; Al Abdulmonem W
    Nucleosides Nucleotides Nucleic Acids; 2024 Feb; ():1-20. PubMed ID: 38319988
    [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. 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]  

  • 18. Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing.
    Wang WJ; Xie JD; Yao H; Ding ZX; Jiang AR; Ma L; Shen HJ; Chen SN
    Clin Genet; 2023 Jan; 103(1):67-78. PubMed ID: 36203343
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].
    Peng GX; Yang WR; Zhao X; Jin LP; Zhang L; Zhou K; Li Y; Ye L; Li Y; Li JP; Fan HH; Song L; Yang Y; Xiong YZ; Wu ZJ; Wang HJ; Zhang FK
    Zhonghua Xue Ye Xue Za Zhi; 2018 Nov; 39(11):898-903. PubMed ID: 30486584
    [No Abstract]   [Full Text] [Related]  

  • 20. [Clinical and genetic features of children with hereditary spherocytosis: an analysis of 4 cases].
    Zhang YG; Xu ZL
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Jan; 21(1):29-32. PubMed ID: 30675860
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.