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Items: 1 to 20 of 168

1.

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
2.

TERC mutations in children with refractory cytopenia.

Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, Kratz CP.

Haematologica. 2006 May;91(5):707-8.

3.

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
4.

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Dokal I, Vulliamy T.

Blood Rev. 2003 Dec;17(4):217-25. Review.

PMID:
14556776
5.

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
6.

Dyskeratosis congenita and telomerase.

Bessler M, Wilson DB, Mason PJ.

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

PMID:
14758110
7.

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.

Yamaguchi H, Baerlocher GM, Lansdorp PM, Chanock SJ, Nunez O, Sloand E, Young NS.

Blood. 2003 Aug 1;102(3):916-8. Epub 2003 Apr 3.

8.

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
9.

Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome.

Field JJ, Mason PJ, An P, Kasai Y, McLellan M, Jaeger S, Barnes YJ, King AA, Bessler M, Wilson DB.

J Pediatr Hematol Oncol. 2006 Jul;28(7):450-3.

PMID:
16825992
10.

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.

Marrone A, Stevens D, Vulliamy T, Dokal I, Mason PJ.

Blood. 2004 Dec 15;104(13):3936-42. Epub 2004 Aug 19.

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.

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I.

Haematologica. 2007 Aug;92(8):1013-20. Epub 2007 Jul 20.

13.

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
14.

Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita.

Ly H, Schertzer M, Jastaniah W, Davis J, Yong SL, Ouyang Q, Blackburn EH, Parslow TG, Lansdorp PM.

Blood. 2005 Aug 15;106(4):1246-52. Epub 2005 May 10.

15.

Association between aplastic anaemia and mutations in telomerase RNA.

Vulliamy T, Marrone A, Dokal I, Mason PJ.

Lancet. 2002 Jun 22;359(9324):2168-70.

PMID:
12090986
16.

Stem cells, telomerase and dyskeratosis congenita.

Mason PJ.

Bioessays. 2003 Feb;25(2):126-33. Review.

PMID:
12539238
17.

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.

18.

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.

19.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP.

Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.

20.

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.

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