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Items: 1 to 20 of 130

1.

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.

2.

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
3.

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
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.

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.

6.

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.

7.

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
8.
9.

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A, Dokal I.

Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. Review.

PMID:
15613268
10.
11.

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.

12.

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.

13.

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.

Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ.

Blood. 1999 Aug 15;94(4):1254-60.

14.

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
15.

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.

16.

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF.

Am J Hum Genet. 2004 Sep;75(3):410-23. Epub 2004 Jul 15.

17.

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
18.

Dyskeratosis congenita and telomerase.

Bessler M, Wilson DB, Mason PJ.

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

PMID:
14758110
19.

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
20.

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.

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