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Results: 1 to 20 of 63

1.

Telomere dysfunction in human diseases: the long and short of it!

Carroll KA, Ly H.

Int J Clin Exp Pathol. 2009 May 10;2(6):528-43.

PMID:
19636400
[PubMed]
Free PMC Article
2.

Dyskeratosis congenita and telomerase.

Bessler M, Wilson DB, Mason PJ.

Curr Opin Pediatr. 2004 Feb;16(1):23-8. Review.

PMID:
14758110
[PubMed - indexed for MEDLINE]
3.
4.

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance.

Mason PJ, Wilson DB, Bessler M.

Curr Mol Med. 2005 Mar;5(2):159-70. Review.

PMID:
15974869
[PubMed - indexed for MEDLINE]
5.

Recent progress in dyskeratosis congenita.

Nishio N, Kojima S.

Int J Hematol. 2010 Oct;92(3):419-24. doi: 10.1007/s12185-010-0695-5. Epub 2010 Oct 1. Review.

PMID:
20882440
[PubMed - indexed for MEDLINE]
6.

Telomeres and marrow failure.

Calado RT.

Hematology Am Soc Hematol Educ Program. 2009:338-43. doi: 10.1182/asheducation-2009.1.338. Review.

PMID:
20008219
[PubMed - indexed for MEDLINE]
Free Article
7.

Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation.

Cerone MA, Ward RJ, LondoƱo-Vallejo JA, Autexier C.

Cell Cycle. 2005 Apr;4(4):585-9. Epub 2005 Apr 3.

PMID:
15753647
[PubMed - indexed for MEDLINE]
Free Article
8.

Telomere length variation and telomerase activity expression in patients with congenital and acquired aplastic anemia.

Polychronopoulou S, Koutroumba P.

Acta Haematol. 2004;111(3):125-31. Review.

PMID:
15034232
[PubMed - indexed for MEDLINE]
9.

Dyskeratosis congenita.

Dokal I.

Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. Review.

PMID:
22160078
[PubMed - indexed for MEDLINE]
Free Article
10.

Dyskeratosis congenita, stem cells and telomeres.

Kirwan M, Dokal I.

Biochim Biophys Acta. 2009 Apr;1792(4):371-9. doi: 10.1016/j.bbadis.2009.01.010. Epub 2009 Feb 7. Review.

PMID:
19419704
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.

Calado RT, Regal JA, Kajigaya S, Young NS.

Eur J Clin Invest. 2009 Nov;39(11):1025-32. doi: 10.1111/j.1365-2362.2009.02209.x. Epub 2009 Aug 11.

PMID:
19674077
[PubMed - indexed for MEDLINE]
12.

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.

Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30.

PMID:
18669893
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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 May-Jun;34(3):257-63.

PMID:
15885610
[PubMed - indexed for MEDLINE]
14.

Advances in the understanding of dyskeratosis congenita.

Walne AJ, Dokal I.

Br J Haematol. 2009 Apr;145(2):164-72. doi: 10.1111/j.1365-2141.2009.07598.x. Epub 2009 Feb 4. Review.

PMID:
19208095
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Dyskerin, telomerase and the DNA damage response.

Gu B, Bessler M, Mason PJ.

Cell Cycle. 2009 Jan 1;8(1):6-10. Epub 2009 Jan 24. Review.

PMID:
19106610
[PubMed - indexed for MEDLINE]
Free Article
16.

Dyskeratosis congenita.

Vulliamy T, Dokal I.

Semin Hematol. 2006 Jul;43(3):157-66. Review.

PMID:
16822458
[PubMed - indexed for MEDLINE]
17.

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

Lamm N, Ordan E, Shponkin R, Richler C, Aker M, Tzfati Y.

PLoS One. 2009 May 22;4(5):e5666. doi: 10.1371/journal.pone.0005666.

PMID:
19461895
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Dyskeratosis congenita: a genetic disorder of many faces.

Kirwan M, Dokal I.

Clin Genet. 2008 Feb;73(2):103-12. Epub 2007 Nov 14. Review.

PMID:
18005359
[PubMed - indexed for MEDLINE]
19.

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.

Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I.

Hum Mol Genet. 2007 Jul 1;16(13):1619-29. Epub 2007 May 16.

PMID:
17507419
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Telomerase therapeutics for degenerative diseases.

Harley CB.

Curr Mol Med. 2005 Mar;5(2):205-11. Review.

PMID:
15974874
[PubMed - indexed for MEDLINE]

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