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Items: 1 to 20 of 154

1.

Bone marrow failure and the new telomere diseases: practice and research.

Young NS.

Hematology. 2012 Apr;17 Suppl 1:S18-21. doi: 10.1179/102453312X13336169155132.

PMID:
22507770
2.

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
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.

Bone marrow failure and the telomeropathies.

Townsley DM, Dumitriu B, Young NS.

Blood. 2014 Oct 30;124(18):2775-83. doi: 10.1182/blood-2014-05-526285. Epub 2014 Sep 18. Review.

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

PMID:
15885610
6.

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
7.

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Du HY, Pumbo E, Ivanovich J, An P, Maziarz RT, Reiss UM, Chirnomas D, Shimamura A, Vlachos A, Lipton JM, Goyal RK, Goldman F, Wilson DB, Mason PJ, Bessler M.

Blood. 2009 Jan 8;113(2):309-16. doi: 10.1182/blood-2008-07-166421. Epub 2008 Oct 17.

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.

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.

10.

Human telomere disease due to disruption of the CCAAT box of the TERC promoter.

Aalbers AM, Kajigaya S, van den Heuvel-Eibrink MM, van der Velden VH, Calado RT, Young NS.

Blood. 2012 Mar 29;119(13):3060-3. doi: 10.1182/blood-2011-10-383182. Epub 2012 Feb 8.

11.

Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.

Vulliamy TJ, Dokal I.

Biochimie. 2008 Jan;90(1):122-30. Epub 2007 Jul 31. Review.

PMID:
17825470
12.

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.

13.

Telomere shortening in human diseases.

Kong CM, Lee XW, Wang X.

FEBS J. 2013 Jul;280(14):3180-93. doi: 10.1111/febs.12326. Epub 2013 Jun 24. Review.

14.

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 20;4(11):e7926. doi: 10.1371/journal.pone.0007926.

15.

[Abnormality of telomere maintenance linked to bone marrow failures].

Yamaguchi H.

Nihon Rinsho. 2008 Mar;66(3):483-9. Review. Japanese.

PMID:
18326318
16.

Prognostic value of telomere attrition in patients with aplastic anemia.

Scheinberg P.

Int J Hematol. 2013 May;97(5):553-7. doi: 10.1007/s12185-013-1332-x. Epub 2013 May 1. Review.

PMID:
23636667
17.

Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.

Beier F, Foronda M, Martinez P, Blasco MA.

Blood. 2012 Oct 11;120(15):2990-3000. doi: 10.1182/blood-2012-03-418038. Epub 2012 Aug 29.

18.

Dyskeratosis congenita.

Bessler M, Wilson DB, Mason PJ.

FEBS Lett. 2010 Sep 10;584(17):3831-8. doi: 10.1016/j.febslet.2010.05.019. Epub 2010 May 21.

19.

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
20.

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.

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