These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

129 related articles for article (PubMed ID: 17128459)

  • 1. Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.
    Manco L; Ribeiro ML
    Hum Genet; 2006 Jul; 119(6):673-4. PubMed ID: 17128459
    [No Abstract]   [Full Text] [Related]  

  • 2. Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.
    Marinaki AM; Escuredo E; Duley JA; Simmonds HA; Amici A; Naponelli V; Magni G; Seip M; Ben-Bassat I; Harley EH; Thein SL; Rees DC
    Blood; 2001 Jun; 97(11):3327-32. PubMed ID: 11369620
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.
    Köker SA; Oymak Y; Bianchi P; Fermo E; Karapinar TH; Gözmen S; Ay Y; Vergin RC
    J Pediatr Hematol Oncol; 2019 Nov; 41(8):e484-e486. PubMed ID: 30951028
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Molecular characterization of five Portuguese patients with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.
    Manco L; Relvas L; Silva Pinto C; Pereira J; Almeida AB; Ribeiro ML
    Haematologica; 2006 Feb; 91(2):266-7. PubMed ID: 16461318
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression.
    Santos Ad; Dantas LE; Traina F; Albuquerque DM; Chaim EA; Saad ST
    Blood Cells Mol Dis; 2014 Dec; 53(4):246-52. PubMed ID: 25153905
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder.
    Chiarelli LR; Fermo E; Abrusci P; Bianchi P; Dellacasa CM; Galizzi A; Zanella A; Valentini G
    Haematologica; 2006 Sep; 91(9):1244-7. PubMed ID: 16956825
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Pyrimidine 5'-nucleotidase deficiency associated to a polymalformative syndrome.
    Altounian L; Perrin J; Fouyssac F; Fenneteau O; Da Costa L; Bahuau M; Leheup B; Jonveaux P; Lesesve JF
    Ann Biol Clin (Paris); 2015; 73(5):587-90. PubMed ID: 26489818
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.
    Zanella A; Bianchi P; Fermo E; Valentini G
    Br J Haematol; 2006 Apr; 133(2):113-23. PubMed ID: 16611302
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pyrimidine 5' nucleotidase deficiency.
    Rees DC; Duley JA; Marinaki AM
    Br J Haematol; 2003 Feb; 120(3):375-83. PubMed ID: 12580951
    [No Abstract]   [Full Text] [Related]  

  • 10. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5'-nucleotidase deficiency.
    Bianchi P; Fermo E; Alfinito F; Vercellati C; Baserga M; Ferraro F; Guzzo I; Rotoli B; Zanella A
    Br J Haematol; 2003 Sep; 122(5):847-51. PubMed ID: 12930399
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Gene symbol: NT5C3. Disease: haemolytic anemia.
    Manco L; Pereira J; Bento MC; Ribeiro ML
    Hum Genet; 2005 Dec; 118(3-4):534. PubMed ID: 16402212
    [No Abstract]   [Full Text] [Related]  

  • 12. Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.
    Chiarelli LR; Morera SM; Galizzi A; Fermo E; Zanella A; Valentini G
    Blood Cells Mol Dis; 2008; 40(3):295-301. PubMed ID: 18499901
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.
    Chiarelli LR; Fermo E; Zanella A; Valentini G
    Hematology; 2006 Feb; 11(1):67-72. PubMed ID: 16522554
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.
    Chiarelli LR; Bianchi P; Fermo E; Galizzi A; Iadarola P; Mattevi A; Zanella A; Valentini G
    Blood; 2005 Apr; 105(8):3340-5. PubMed ID: 15604219
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new mutant erythrocyte pyrimidine 5'-nucleotidase characterized by fast electrophoretic mobility in a Chinese boy with chronic hemolytic anemia.
    Li JY; Wan SD; Ma ZM; Zhao YH; Zhou GP
    Clin Chim Acta; 1991 Aug; 200(1):43-7. PubMed ID: 1934510
    [No Abstract]   [Full Text] [Related]  

  • 16. The genetic basis of the interaction between pyrimidine 5' nucleotidase I deficiency and hemoglobin E.
    Escuredo E; Marinaki AM; Duley JA; Thein SL; Rees DC
    Nucleosides Nucleotides Nucleic Acids; 2004 Oct; 23(8-9):1261-3. PubMed ID: 15571242
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency.
    Rees DC; Duley J; Simmonds HA; Wonke B; Thein SL; Clegg JB; Weatherall DJ
    Blood; 1996 Oct; 88(7):2761-7. PubMed ID: 8839873
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency.
    Kanno H; Takizawa T; Miwa S; Fujii H
    Br J Haematol; 2004 Jul; 126(2):265-71. PubMed ID: 15238149
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Inhibition of hexose monophosphate shunt in young erythrocytes by pyrimidine nucleotides in hereditary pyrimidine 5' nucleotidase deficiency.
    David O; Ramenghi U; Camaschella C; Vota MG; Comino L; Pescarmona GP; Nicola P
    Eur J Haematol; 1991 Jul; 47(1):48-54. PubMed ID: 1868914
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Hemolytic anemia caused by pyrimidine 5'-nucleotidase (P5N) deficiency 15 years later. Apropos of 2 new cases of hereditary deficit and another one of lead poisoning].
    de la Serna FJ; Gilsanz F; Ricard P; Urrutia A
    Med Clin (Barc); 1989 Oct; 93(10):380-2. PubMed ID: 2558262
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.