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Items: 1 to 20 of 28

1.

Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita.

Savage SA, Giri N, Jessop L, Pike K, Plona T, Burdett L, Alter BP.

J Med Genet. 2011 Apr;48(4):285-8. doi: 10.1136/jmg.2010.082727. Epub 2011 Jan 5.

PMID:
21209122
2.

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.

3.

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.

4.

Dyskeratosis congenita.

Dokal I.

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

PMID:
22160078
5.

Dyskeratosis Congenita.

Savage SA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2009 Nov 12 [updated 2016 May 26].

6.

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Ballew BJ, Savage SA.

Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Review.

PMID:
23782086
7.

The genetics and clinical manifestations of telomere biology disorders.

Savage SA, Bertuch AA.

Genet Med. 2010 Dec;12(12):753-64. doi: 10.1097/GIM.0b013e3181f415b5. Review.

8.

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy.

Gramatges MM, Bertuch AA.

Transl Res. 2013 Dec;162(6):353-63. doi: 10.1016/j.trsl.2013.05.003. Epub 2013 Jun 1. Review.

9.

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
10.

Dyskeratosis congenita: telomerase, telomeres and anticipation.

Marrone A, Walne A, Dokal I.

Curr Opin Genet Dev. 2005 Jun;15(3):249-57. Review.

PMID:
15917199
11.

Dyskeratosis congenita as a disorder of telomere maintenance.

Nelson ND, Bertuch AA.

Mutat Res. 2012 Feb 1;730(1-2):43-51. doi: 10.1016/j.mrfmmm.2011.06.008. Epub 2011 Jul 2. Review.

12.

The genetics of dyskeratosis congenita.

Mason PJ, Bessler M.

Cancer Genet. 2011 Dec;204(12):635-45. doi: 10.1016/j.cancergen.2011.11.002. Review.

13.

[Dyskeratosis congenita, a disease caused by defective telomere maintenance].

Hoareau-Aveilla C, Henry Y, Leblanc T.

Med Sci (Paris). 2008 Apr;24(4):390-8. doi: 10.1051/medsci/2008244390. Review. French.

14.

Telomere maintenance and human bone marrow failure.

Calado RT, Young NS.

Blood. 2008 May 1;111(9):4446-55. doi: 10.1182/blood-2007-08-019729. Epub 2008 Jan 31. Review.

15.

Human telomeres and telomere biology disorders.

Savage SA.

Prog Mol Biol Transl Sci. 2014;125:41-66. doi: 10.1016/B978-0-12-397898-1.00002-5. Review.

PMID:
24993697
16.

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
17.

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A, Dokal I.

Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. Review.

PMID:
15613268
18.

Dyskeratosis congenita: a disorder of defective telomere maintenance?

Walne AJ, Marrone A, Dokal I.

Int J Hematol. 2005 Oct;82(3):184-9. Review.

PMID:
16207588
19.

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
20.

Dyskeratosis congenita.

Gupta V, Kumar A.

Adv Exp Med Biol. 2010;685:215-9. Review.

PMID:
20687509
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