BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 7655861)

  • 1. Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.
    Baronciani L; Magalhães IQ; Mahoney DH; Westwood B; Adekile AD; Lappin TR; Beutler E
    Blood Cells Mol Dis; 1995; 21(1):49-55. PubMed ID: 7655861
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Molecular characterization of PK-LR gene in pyruvate kinase-deficient Italian patients.
    Zanella A; Bianchi P; Baronciani L; Zappa M; Bredi E; Vercellati C; Alfinito F; Pelissero G; Sirchia G
    Blood; 1997 May; 89(10):3847-52. PubMed ID: 9160692
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH).
    Zarza R; Alvarez R; Pujades A; Nomdedeu B; Carrera A; Estella J; Remacha A; Sánchez JM; Morey M; Cortes T; Pérez Lungmus G; Bureo E; Vives Corrons JL
    Br J Haematol; 1998 Nov; 103(2):377-82. PubMed ID: 9827908
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mutations in pyruvate kinase.
    Beutler E; Baronciani L
    Hum Mutat; 1996; 7(1):1-6. PubMed ID: 8664896
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity.
    Schröter W; Lakomek M; Scharnetzky M; Tillmann W; Winkler H
    Hum Genet; 1982; 60(4):381-6. PubMed ID: 7106777
    [No Abstract]   [Full Text] [Related]  

  • 8. Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients.
    Zanella A; Bianchi P; Fermo E; Iurlo A; Zappa M; Vercellati C; Boschetti C; Baronciani L; Cotton F
    Br J Haematol; 2001 Apr; 113(1):43-8. PubMed ID: 11328279
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia.
    Wang C; Chiarelli LR; Bianchi P; Abraham DJ; Galizzi A; Mattevi A; Zanella A; Valentini G
    Blood; 2001 Nov; 98(10):3113-20. PubMed ID: 11698298
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A previously unknown mutation in the pyruvate kinase gene (PKLR) identified from a neonate with severe jaundice.
    Yaish HM; Nussenzveig RH; Agarwal AM; Siddiqui AH; Christensen RD
    Neonatology; 2014; 106(2):140-2. PubMed ID: 24969675
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Molecular Analyses of Pyruvate Kinase Deficient Turkish Patients from a Single Center.
    Unal S; Gumruk F
    Pediatr Hematol Oncol; 2015; 32(5):354-61. PubMed ID: 25941984
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.
    Baronciani L; Beutler E
    Proc Natl Acad Sci U S A; 1993 May; 90(9):4324-7. PubMed ID: 8483951
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Pyruvate kinase deficiency.
    Miwa S
    Nihon Ketsueki Gakkai Zasshi; 1987 Dec; 50(8):1445-52. PubMed ID: 3328943
    [No Abstract]   [Full Text] [Related]  

  • 15. [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]  

  • 16. 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]  

  • 17. Molecular analysis of 29 pyruvate kinase-deficient patients from central Europe with hereditary hemolytic anemia.
    Lenzner C; Nürnberg P; Jacobasch G; Gerth C; Thiele BJ
    Blood; 1997 Mar; 89(5):1793-9. PubMed ID: 9057665
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.
    Manco L; Ribeiro ML; Máximo V; Almeida H; Costa A; Freitas O; Barbot J; Abade A; Tamagnini G
    Br J Haematol; 2000 Sep; 110(4):993-7. PubMed ID: 11054094
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.