BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

310 related articles for article (PubMed ID: 10679942)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. A novel and a previously described compound heterozygous PKLR gene mutations causing pyruvate kinase deficiency in a Chinese child.
    Li H; Gu P; Yao RE; Wang J; Fu Q; Wang J
    Fetal Pediatr Pathol; 2014 Jun; 33(3):182-90. PubMed ID: 24601847
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular characterisation of pyruvate kinase deficiency--concerns about the description of mutant PKLR alleles.
    van Wijk R; Rijksen G; van Solinge WW
    Br J Haematol; 2007 Jan; 136(1):167-9; author reply 169-70. PubMed ID: 17222205
    [No Abstract]   [Full Text] [Related]  

  • 6. Hexokinase mutations that produce nonspherocytic hemolytic anemia.
    Bianchi M; Magnani M
    Blood Cells Mol Dis; 1995; 21(1):2-8. PubMed ID: 7655856
    [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. 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]  

  • 9. Hematologically important mutations: red cell pyruvate kinase (Third update).
    Bianchi P; Zanella A
    Blood Cells Mol Dis; 2000 Feb; 26(1):47-53. PubMed ID: 10772876
    [No Abstract]   [Full Text] [Related]  

  • 10. Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.
    Baronciani L; Beutler E
    J Clin Invest; 1995 Apr; 95(4):1702-9. PubMed ID: 7706479
    [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. 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]  

  • 13. Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.
    Abrusci P; Chiarelli LR; Galizzi A; Fermo E; Bianchi P; Zanella A; Valentini G
    Exp Hematol; 2007 Aug; 35(8):1182-9. PubMed ID: 17662886
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The molecular basis of canine pyruvate kinase deficiency.
    Whitney KM; Goodman SA; Bailey EM; Lothrop CD
    Exp Hematol; 1994 Aug; 22(9):866-74. PubMed ID: 7520391
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency].
    Li D; Zhang J; Jiao B; Liu Y; Wang Y; Wang Z; Li W; Hou L; Sun Y; Guo H; Guo X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2016 Feb; 33(1):53-6. PubMed ID: 26829734
    [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. PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.
    Rouger H; Girodon E; Goossens M; Galactéros F; Cohen-Solal M
    Prenat Diagn; 1996 Feb; 16(2):97-104. PubMed ID: 8650134
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Chronic non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency in a Costa Rican family carrying hemoglobin C disease].
    Chaves M; Vives-Corrons JL; Sáenz GF; Pujades MA; Briceño J; Colomer D
    Sangre (Barc); 1990 Apr; 35(2):128-33. PubMed ID: 2363093
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Hematologically important mutations: red cell pyruvate kinase (2nd update).
    Baronciani L; Bianchi P; Zanella A
    Blood Cells Mol Dis; 1998 Sep; 24(3):273-9. PubMed ID: 10087985
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 16.