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Items: 1 to 20 of 108

1.

Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita.

Khincha PP, Bertuch AA, Gadalla SM, Giri N, Alter BP, Savage SA.

Blood Adv. 2018 Jun 12;2(11):1243-1249. doi: 10.1182/bloodadvances.2018016964.

2.

Correlation of Leukocyte Telomere Length Measurement Methods in Patients with Dyskeratosis Congenita and in Their Unaffected Relatives.

Khincha PP, Dagnall CL, Hicks B, Jones K, Aviv A, Kimura M, Katki H, Aubert G, Giri N, Alter BP, Savage SA, Gadalla SM.

Int J Mol Sci. 2017 Aug 13;18(8). pii: E1765. doi: 10.3390/ijms18081765.

3.

Response to androgen therapy in patients with dyskeratosis congenita.

Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA.

Br J Haematol. 2014 May;165(3):349-57. doi: 10.1111/bjh.12748. Epub 2014 Feb 12.

4.

Evaluation and Management of Hematopoietic Failure in Dyskeratosis Congenita.

Agarwal S.

Hematol Oncol Clin North Am. 2018 Aug;32(4):669-685. doi: 10.1016/j.hoc.2018.04.003. Epub 2018 May 28. Review.

PMID:
30047419
5.

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.

Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM.

Blood. 2007 Sep 1;110(5):1439-47. Epub 2007 Apr 27.

6.

The relationship between DNA methylation and telomere length in dyskeratosis congenita.

Gadalla SM, Katki HA, Shebl FM, Giri N, Alter BP, Savage SA.

Aging Cell. 2012 Feb;11(1):24-8. doi: 10.1111/j.1474-9726.2011.00755.x. Epub 2011 Nov 15.

7.

Telomere length is associated with disease severity and declines with age in dyskeratosis congenita.

Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA.

Haematologica. 2012 Mar;97(3):353-9. doi: 10.3324/haematol.2011.055269. Epub 2011 Nov 4.

8.

Telomere length in inherited bone marrow failure syndromes.

Alter BP, Giri N, Savage SA, Rosenberg PS.

Haematologica. 2015 Jan;100(1):49-54. doi: 10.3324/haematol.2014.114389. Epub 2014 Oct 10.

9.

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.

10.

Dyskeratosis Congenita.

Savage SA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2009 Nov 12 [updated 2019 Nov 21].

11.

Disrupted lymphocyte homeostasis in hepatitis-associated acquired aplastic anemia is associated with short telomeres.

Babushok DV, Grignon AL, Li Y, Atienza J, Xie HM, Lam HS, Hartung H, Bessler M, Olson TS.

Am J Hematol. 2016 Feb;91(2):243-7. doi: 10.1002/ajh.24256.

12.

Bone marrow skeletal stem/progenitor cell defects in dyskeratosis congenita and telomere biology disorders.

Balakumaran A, Mishra PJ, Pawelczyk E, Yoshizawa S, Sworder BJ, Cherman N, Kuznetsov SA, Bianco P, Giri N, Savage SA, Merlino G, Dumitriu B, Dunbar CE, Young NS, Alter BP, Robey PG.

Blood. 2015 Jan 29;125(5):793-802. doi: 10.1182/blood-2014-06-566810. Epub 2014 Dec 12.

13.

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
14.

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.

Touzot F, Gaillard L, Vasquez N, Le Guen T, Bertrand Y, Bourhis J, Leblanc T, Fischer A, Soulier J, de Villartay JP, Revy P.

J Allergy Clin Immunol. 2012 Feb;129(2):473-82, 482.e1-3. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10.

PMID:
22078571
15.

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes.

Gadalla SM, Cawthon R, Giri N, Alter BP, Savage SA.

Aging (Albany NY). 2010 Nov;2(11):867-74.

16.

Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita.

Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F.

Blood. 2005 Jan 15;105(2):682-8. Epub 2004 Jul 6.

PMID:
15238429
17.

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.

18.

Direct comparison of flow-FISH and qPCR as diagnostic tests for telomere length measurement in humans.

Gutierrez-Rodrigues F, Santana-Lemos BA, Scheucher PS, Alves-Paiva RM, Calado RT.

PLoS One. 2014 Nov 19;9(11):e113747. doi: 10.1371/journal.pone.0113747. eCollection 2014.

19.

The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenita.

Gadalla SM, Khincha PP, Katki HA, Giri N, Wong JY, Spellman S, Yanovski JA, Han JC, De Vivo I, Alter BP, Savage SA.

Mol Genet Genomic Med. 2016 Mar 20;4(4):475-9. doi: 10.1002/mgg3.220. eCollection 2016 Jul.

20.

Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts.

Westin ER, Chavez E, Lee KM, Gourronc FA, Riley S, Lansdorp PM, Goldman FD, Klingelhutz AJ.

Aging Cell. 2007 Jun;6(3):383-94. Epub 2007 Mar 23.

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