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 *

202 related articles for article (PubMed ID: 16990594)

  • 1. Functional characterization of natural telomerase mutations found in patients with hematologic disorders.
    Xin ZT; Beauchamp AD; Calado RT; Bradford JW; Regal JA; Shenoy A; Liang Y; Lansdorp PM; Young NS; Ly H
    Blood; 2007 Jan; 109(2):524-32. PubMed ID: 16990594
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional characterization of telomerase RNA variants found in patients with hematologic disorders.
    Ly H; Calado RT; Allard P; Baerlocher GM; Lansdorp PM; Young NS; Parslow TG
    Blood; 2005 Mar; 105(6):2332-9. PubMed ID: 15550482
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.
    Marrone A; Stevens D; Vulliamy T; Dokal I; Mason PJ
    Blood; 2004 Dec; 104(13):3936-42. PubMed ID: 15319288
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
    Marrone A; Sokhal P; Walne A; Beswick R; Kirwan M; Killick S; Williams M; Marsh J; Vulliamy T; Dokal I
    Haematologica; 2007 Aug; 92(8):1013-20. PubMed ID: 17640862
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
    Vulliamy TJ; Walne A; Baskaradas A; Mason PJ; Marrone A; Dokal I
    Blood Cells Mol Dis; 2005; 34(3):257-63. PubMed ID: 15885610
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dyskeratosis congenita and telomerase.
    Bessler M; Wilson DB; Mason PJ
    Curr Opin Pediatr; 2004 Feb; 16(1):23-8. PubMed ID: 14758110
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Telomerase RNA levels limit the telomere length equilibrium.
    Greider CW
    Cold Spring Harb Symp Quant Biol; 2006; 71():225-9. PubMed ID: 17381301
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Dyskeratosis congenita: its link to telomerase and aplastic anaemia.
    Dokal I; Vulliamy T
    Blood Rev; 2003 Dec; 17(4):217-25. PubMed ID: 14556776
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disease-associated human telomerase RNA variants show loss of function for telomere synthesis without dominant-negative interference.
    Errington TM; Fu D; Wong JM; Collins K
    Mol Cell Biol; 2008 Oct; 28(20):6510-20. PubMed ID: 18710936
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The effect of TERC haploinsufficiency on the inheritance of telomere length.
    Goldman F; Bouarich R; Kulkarni S; Freeman S; Du HY; Harrington L; Mason PJ; Londoño-Vallejo A; Bessler M
    Proc Natl Acad Sci U S A; 2005 Nov; 102(47):17119-24. PubMed ID: 16284252
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dyskeratosis congenita.
    Vulliamy T; Dokal I
    Semin Hematol; 2006 Jul; 43(3):157-66. PubMed ID: 16822458
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Stem cells, telomerase and dyskeratosis congenita.
    Mason PJ
    Bioessays; 2003 Feb; 25(2):126-33. PubMed ID: 12539238
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
    Yamaguchi H; Calado RT; Ly H; Kajigaya S; Baerlocher GM; Chanock SJ; Lansdorp PM; Young NS
    N Engl J Med; 2005 Apr; 352(14):1413-24. PubMed ID: 15814878
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.
    Ly H; Schertzer M; Jastaniah W; Davis J; Yong SL; Ouyang Q; Blackburn EH; Parslow TG; Lansdorp PM
    Blood; 2005 Aug; 106(4):1246-52. PubMed ID: 15886322
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A spectrum of severe familial liver disorders associate with telomerase mutations.
    Calado RT; Regal JA; Kleiner DE; Schrump DS; Peterson NR; Pons V; Chanock SJ; Lansdorp PM; Young NS
    PLoS One; 2009 Nov; 4(11):e7926. PubMed ID: 19936245
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.
    Yamaguchi H; Baerlocher GM; Lansdorp PM; Chanock SJ; Nunez O; Sloand E; Young NS
    Blood; 2003 Aug; 102(3):916-8. PubMed ID: 12676774
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.
    Armanios M; Chen JL; Chang YP; Brodsky RA; Hawkins A; Griffin CA; Eshleman JR; Cohen AR; Chakravarti A; Hamosh A; Greider CW
    Proc Natl Acad Sci U S A; 2005 Nov; 102(44):15960-4. PubMed ID: 16247010
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.
    Fogarty PF; Yamaguchi H; Wiestner A; Baerlocher GM; Sloand E; Zeng WS; Read EJ; Lansdorp PM; Young NS
    Lancet; 2003 Nov; 362(9396):1628-30. PubMed ID: 14630445
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
    Vulliamy T; Marrone A; Szydlo R; Walne A; Mason PJ; Dokal I
    Nat Genet; 2004 May; 36(5):447-9. PubMed ID: 15098033
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.
    Field JJ; Mason PJ; An P; Kasai Y; McLellan M; Jaeger S; Barnes YJ; King AA; Bessler M; Wilson DB
    J Pediatr Hematol Oncol; 2006 Jul; 28(7):450-3. PubMed ID: 16825992
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.