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Items: 1 to 20 of 66

1.

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP.

Blood Cells Mol Dis. 2006 Sep-Oct;37(2):134-6. Epub 2006 Aug 23. No abstract available.

PMID:
16934504
2.

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
3.

[Bone marrow failure due to telomerase complex gene mutations].

Yamaguchi H.

Rinsho Ketsueki. 2006 Nov;47(11):1431-7. Review. Japanese. No abstract available.

PMID:
17176885
4.

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
5.

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.

6.

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.

7.

Human diseases of telomerase dysfunction: insights into tissue aging.

Garcia CK, Wright WE, Shay JW.

Nucleic Acids Res. 2007;35(22):7406-16. Epub 2007 Oct 2. Review.

8.

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.

9.

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

Du HY, Pumbo E, Manley P, Field JJ, Bayliss SJ, Wilson DB, Mason PJ, Bessler M.

Blood. 2008 Feb 1;111(3):1128-30. Epub 2007 Nov 27.

10.

Dyskeratosis congenita and telomerase.

Bessler M, Wilson DB, Mason PJ.

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

PMID:
14758110
11.

Mutations of telomerase complex genes linked to bone marrow failures.

Yamaguchi H.

J Nippon Med Sch. 2007 Jun;74(3):202-9. Review.

12.

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.

Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I.

Nature. 2001 Sep 27;413(6854):432-5.

PMID:
11574891
13.

Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia.

Aspesi A, Vallero S, Rocci A, Pavesi E, Lanciotti M, Ramenghi U, Dianzani I.

Pediatr Blood Cancer. 2010 Sep;55(3):550-3. doi: 10.1002/pbc.22589.

PMID:
20658629
14.

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.

Fogarty PF, Yamaguchi H, Wiestner A, Baerlocher GM, Sloand E, Zeng WS, Read EJ, Lansdorp PM, Young NS.

Lancet. 2003 Nov 15;362(9396):1628-30.

PMID:
14630445
15.

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
16.

Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.

Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T.

Haematologica. 2008 Jun;93(6):943-4. doi: 10.3324/haematol.12317. Epub 2008 May 6. No abstract available.

17.

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

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

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

PMID:
15753647
18.

Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.

Sharma A, Myers K, Ye Z, D'Orazio J.

Pediatr Blood Cancer. 2014 Dec;61(12):2302-4. doi: 10.1002/pbc.25161. Epub 2014 Jul 25.

19.

Functional characterization of natural telomerase mutations found in patients with hematologic disorders.

Xin ZT, Beauchamp AD, Calado RT, Bradford JW, Regal JA, Shenoy A, Liang Y, Lansdorp PM, Young NS, Ly H.

Blood. 2007 Jan 15;109(2):524-32. Epub 2006 Sep 21.

20.

Dyskeratosis congenita.

Marrone A, Mason PJ.

Cell Mol Life Sci. 2003 Mar;60(3):507-17. Review.

PMID:
12737310

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