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Items: 1 to 20 of 137

1.

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

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

Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31.

2.

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.

3.

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
4.

High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.

Carrillo J, Martínez P, Solera J, Moratilla C, González A, Manguán-García C, Aymerich M, Canal L, Del Campo M, Dapena JL, Escoda L, García-Sagredo JM, Martín-Sala S, Rives S, Sevilla J, Sastre L, Perona R.

Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2.

PMID:
22664374
5.

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.

6.

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.

7.

Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.

Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA.

Clin Genet. 2012 May;81(5):470-8. doi: 10.1111/j.1399-0004.2011.01658.x. Epub 2011 Apr 7.

8.

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, Dokal I.

Clin Genet. 2012 Jan;81(1):76-81. doi: 10.1111/j.1399-0004.2010.01605.x. Epub 2011 Jan 4.

9.

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.

10.

[Dyskeratosis congenital: clinical features and genotype analysis in two Chinese patients].

Liu R, Shi XD, Wang TY, Liu ZQ, Hu T, Fan W, Cao J, Hou R, Liang C, Huang SA.

Zhonghua Xue Ye Xue Za Zhi. 2011 Oct;32(10):684-7. Chinese.

PMID:
22339828
11.

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ, Kirwan MJ, Beswick R, Hossain U, Baqai C, Ratcliffe A, Marsh J, Walne A, Dokal I.

PLoS One. 2011;6(9):e24383. doi: 10.1371/journal.pone.0024383. Epub 2011 Sep 13.

12.

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
13.

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.

Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I.

Proc Natl Acad Sci U S A. 2008 Jun 10;105(23):8073-8. doi: 10.1073/pnas.0800042105. Epub 2008 Jun 3.

14.

Dyskeratosis congenita.

Dokal I.

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

PMID:
22160078
15.

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.

Kirwan M, Beswick R, Vulliamy T, Nathwani AC, Walne AJ, Casimir C, Dokal I.

Br J Haematol. 2009 Mar;144(5):771-81. doi: 10.1111/j.1365-2141.2008.07516.x. Epub 2008 Nov 20.

PMID:
19036115
16.

Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.

Kocak H, Ballew BJ, Bisht K, Eggebeen R, Hicks BD, Suman S, O'Neil A, Giri N; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA.

Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.

17.

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 22;102(47):17119-24. Epub 2005 Nov 11.

18.

[Genotype analysis and telomere length measure in patients with dyskeratosis congenita].

Zhang JY, An WB, Zhang L, Chang LX, Qi BQ, Liu TF, Liu F, Yang WY, Guo Y, Zhu XF.

Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2015 Feb;23(1):212-6. doi: 10.7534/j.issn.1009-2137.2015.01.040. Chinese.

PMID:
25687075
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. Epub 2004 Apr 18.

PMID:
15098033
20.

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.

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