BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 32133777)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.
    Xie F; Lei L; Cai B; Gan L; Gao Y; Liu X; Zhou L; Jiang J
    Mol Genet Genomic Med; 2021 Apr; 9(4):e1577. PubMed ID: 33620149
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Experience with eosin-5'-maleimide as a diagnostic tool for red cell membrane cytoskeleton disorders.
    Kedar PS; Colah RB; Kulkarni S; Ghosh K; Mohanty D
    Clin Lab Haematol; 2003 Dec; 25(6):373-6. PubMed ID: 14641141
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.
    More TA; Devendra R; Dongerdiye R; Warang P; Kedar P
    Mol Genet Genomics; 2023 Mar; 298(2):427-439. PubMed ID: 36598564
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis.
    King MJ; Telfer P; MacKinnon H; Langabeer L; McMahon C; Darbyshire P; Dhermy D
    Cytometry B Clin Cytom; 2008 Jul; 74(4):244-50. PubMed ID: 18454487
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [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]  

  • 12. 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]  

  • 13. Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.
    Choi HS; Choi Q; Kim JA; Im KO; Park SN; Park Y; Shin HY; Kang HJ; Kook H; Kim SY; Kim SJ; Kim I; Kim JY; Kim H; Park KD; Park KB; Park M; Park SK; Park ES; Park JA; Park JE; Park JK; Baek HJ; Seo JH; Shim YJ; Ahn HS; Yoo KH; Yoon HS; Won YW; Lee KS; Lee KC; Lee MJ; Lee SA; Lee JA; Lee JM; Lee JH; Lee JW; Lim YT; Jung HJ; Chueh HW; Choi EJ; Jung HL; Kim JH; Lee DS;
    Orphanet J Rare Dis; 2019 May; 14(1):114. PubMed ID: 31122244
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Hereditary spherocytosis: one year study of erythrocyte membrane proteins].
    Tshilolo L; Kagambega F; Sztern B; Vertongen F; Gulbis B
    Rev Med Brux; 1998 Oct; 19(5 Pt 1):417-23. PubMed ID: 9844481
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.
    Luo Y; Li Z; Huang L; Tian J; Xiong M; Yang Z
    Acta Haematol; 2018; 140(2):77-86. PubMed ID: 30227413
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Efficacy of cytochemical tests in gene analysis of hereditary spherocytosis: a case study of six patients with different disease subtypes.
    Shibuya A; Kawashima H; Tanaka M
    Hematology; 2021 Dec; 26(1):827-834. PubMed ID: 34672909
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A comparative evaluation of Eosin-5'-maleimide flow cytometry reveals a high diagnostic efficacy for hereditary spherocytosis.
    Joshi P; Aggarwal A; Jamwal M; Sachdeva MU; Bansal D; Malhotra P; Sharma P; Das R
    Int J Lab Hematol; 2016 Oct; 38(5):520-6. PubMed ID: 27339613
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.