BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

303 related articles for article (PubMed ID: 18759866)

  • 1. Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypes.
    Kedar P; Hamada T; Warang P; Nadkarni A; Shimizu K; Fujji H; Ghosh K; Kanno H; Colah R
    Clin Genet; 2009 Feb; 75(2):157-62. PubMed ID: 18759866
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular and clinical heterogeneity in pyruvate kinase deficiency in India.
    Warang P; Kedar P; Ghosh K; Colah R
    Blood Cells Mol Dis; 2013 Oct; 51(3):133-7. PubMed ID: 23770304
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK.
    van Wijk R; Huizinga EG; van Wesel AC; van Oirschot BA; Hadders MA; van Solinge WW
    Hum Mutat; 2009 Mar; 30(3):446-53. PubMed ID: 19085939
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes.
    Miwa S; Fujii H
    Am J Hematol; 1996 Feb; 51(2):122-32. PubMed ID: 8579052
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.
    Costa C; Albuisson J; Le TH; Max-Audit I; Dinh KT; Tosi M; Goossens M; Pissard S
    Haematologica; 2005 Jan; 90(1):25-30. PubMed ID: 15642665
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
    Fermo E; Bianchi P; Chiarelli LR; Cotton F; Vercellati C; Writzl K; Baker K; Hann I; Rodwell R; Valentini G; Zanella A
    Br J Haematol; 2005 Jun; 129(6):839-46. PubMed ID: 15953013
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].
    de Vooght KM; van Wijk R; Nieuwenhuis HK; Ploos van Amstel JK; Rijksen G; van Solinge WW
    Ned Tijdschr Geneeskd; 2002 Sep; 146(39):1828-31. PubMed ID: 12382367
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Red cell pyruvate kinase deficiency: molecular and clinical aspects.
    Zanella A; Fermo E; Bianchi P; Valentini G
    Br J Haematol; 2005 Jul; 130(1):11-25. PubMed ID: 15982340
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Ex vivo analysis of aberrant splicing induced by two donor site mutations in PKLR of a patient with severe pyruvate kinase deficiency.
    Wijk R; van Wesel AC; Thomas AA; Rijksen G; van Solinge WW
    Br J Haematol; 2004 Apr; 125(2):253-63. PubMed ID: 15059150
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Red cell enzymopathies as a model of inborn errors of metabolism.
    Miwa S; Kanno H; Hirono A; Fujii H
    Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():112-9. PubMed ID: 8629088
    [TBL] [Abstract][Full Text] [Related]  

  • 11. First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation.
    Kedar PS; Nampoothiri S; Sreedhar S; Ghosh K; Shimizu K; Kanno H; Colah RB
    Genet Mol Res; 2007 Jun; 6(2):470-5. PubMed ID: 17952871
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Eight novel mutations and consequences on mRNA and protein level in pyruvate kinase-deficient patients with nonspherocytic hemolytic anemia.
    Kugler W; Willaschek C; Holtz C; Ohlenbusch A; Laspe P; Krügener R; Muirhead H; Schröter W; Lakomek M
    Hum Mutat; 2000; 15(3):261-72. PubMed ID: 10679942
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutations and structural implications in R-type pyruvate kinase-deficient patients from Southern Italy.
    Pastore L; Della Morte R; Frisso G; Alfinito F; Vitale D; Calise RM; Ferraro F; Zagari A; Rotoli B; Salvatore F
    Hum Mutat; 1998; 11(2):127-34. PubMed ID: 9482576
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pyruvate kinase deficiency: the genotype-phenotype association.
    Zanella A; Fermo E; Bianchi P; Chiarelli LR; Valentini G
    Blood Rev; 2007 Jul; 21(4):217-31. PubMed ID: 17360088
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in the PKLR gene.
    Jaouani M; Manco L; Kalai M; Chaouch L; Douzi K; Silva A; Macedo S; Darragi I; Boudriga I; Chaouachi D; Fitouri Z; Van Wijk R; Ribeiro ML; Abbes S
    Int J Lab Hematol; 2017 Apr; 39(2):223-231. PubMed ID: 28133914
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.
    Pissard S; Max-Audit I; Skopinski L; Vasson A; Vivien P; Bimet C; Goossens M; Galacteros F; Wajcman H
    Br J Haematol; 2006 Jun; 133(6):683-9. PubMed ID: 16704447
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pyruvate kinase deficient hemolytic anemia in the Northern Irish population.
    Percy MJ; van Wijk R; Haggan S; Savage GA; Boyd K; Dempsey S; Hamilton J; Kettle P; Kyle A; Shepherd CW; van Solinge WW; Lappin TR; McMullin MF
    Blood Cells Mol Dis; 2007; 39(2):189-94. PubMed ID: 17574881
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Targeted next-generation sequencing identifies eighteen novel mutations expanding the molecular and clinical spectrum of PKLR gene disorders in the Indian population.
    Dongerdiye R; Bokde M; More TA; Saptarshi A; Devendra R; Chiddarwar A; Warang P; Kedar P
    Ann Hematol; 2023 May; 102(5):1029-1036. PubMed ID: 36892591
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Prevalence of pyruvate kinase deficiency among the south Iranian population: quantitative assay and molecular analysis.
    Yavarian M; Karimi M; Shahriary M; Afrasiabi AR
    Blood Cells Mol Dis; 2008; 40(3):308-11. PubMed ID: 17977029
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Iron status in patients with pyruvate kinase deficiency: neonatal hyperferritinaemia associated with a novel frameshift deletion in the PKLR gene (p.Arg518fs), and low hepcidin to ferritin ratios.
    Mojzikova R; Koralkova P; Holub D; Zidova Z; Pospisilova D; Cermak J; Striezencova Laluhova Z; Indrak K; Sukova M; Partschova M; Kucerova J; Horvathova M; Divoky V
    Br J Haematol; 2014 May; 165(4):556-63. PubMed ID: 24533562
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.