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Items: 1 to 20 of 24

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1.

Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) gene.

Alder JK, Parry EM, Yegnasubramanian S, Wagner CL, Lieblich LM, Auerbach R, Auerbach AD, Wheelan SJ, Armanios M.

Hum Mutat. 2013 Nov;34(11):1481-5. doi: 10.1002/humu.22397. Epub 2013 Sep 11.

2.

Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita.

Vaz-Pereira S, Pacheco PA, Gandhi S, Kulasekararaj AG, Marsh JC, Pal B, Mufti GJ.

Eur J Ophthalmol. 2013 Sep-Oct;23(5):772-5. doi: 10.5301/ejo.5000297. Epub 2013 May 3.

PMID:
23661544
3.

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
4.

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.

5.

Telomerase and idiopathic pulmonary fibrosis.

Armanios M.

Mutat Res. 2012 Feb 1;730(1-2):52-8. doi: 10.1016/j.mrfmmm.2011.10.013. Epub 2011 Nov 4. Review.

6.

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.

7.

Syndrome complex of bone marrow failure and pulmonary fibrosis predicts germline defects in telomerase.

Parry EM, Alder JK, Qi X, Chen JJ, Armanios M.

Blood. 2011 May 26;117(21):5607-11. doi: 10.1182/blood-2010-11-322149. Epub 2011 Mar 24. Erratum in: Blood. 2016 Apr 7;127(14):1837.

8.

Dyskeratosis congenita: clinical report and review of the literature.

Baran I, Nalcaci R, Kocak M.

Int J Dent Hyg. 2010 Feb;8(1):68-74. doi: 10.1111/j.1601-5037.2009.00364.x. Review.

PMID:
20096085
9.

Retinal vasculopathy in a family with autosomal dominant dyskeratosis congenita.

Johnson CA, Hatfield M, Pulido JS.

Ophthalmic Genet. 2009 Dec;30(4):181-4. doi: 10.3109/13816810903148012.

PMID:
19852575
10.

Dyskeratosis congenita: report of two cases with distinct clinical presentations.

Demirgüneş FE, Elçin G, Sahin S.

Turk J Pediatr. 2008 Nov-Dec;50(6):604-8.

PMID:
19227430
11.

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.

12.

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
13.

Dyskeratosis congenita: oral hyperkeratosis in association with lichenoid reaction.

Handley TP, Ogden GR.

J Oral Pathol Med. 2006 Sep;35(8):508-12.

PMID:
16918603
14.

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
15.

Generation or birth cohort effect on cancer risk in Li-Fraumeni syndrome.

Brown BW, Costello TJ, Hwang SJ, Strong LC.

Hum Genet. 2005 Dec;118(3-4):489-98. Epub 2005 Nov 12.

PMID:
16284780
16.

Dyskeratosis congenita.

Handley TP, McCaul JA, Ogden GR.

Oral Oncol. 2006 Apr;42(4):331-6. Epub 2005 Sep 2. Review.

PMID:
16140563
17.

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
18.

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Dokal I, Vulliamy T.

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

PMID:
14556776
19.

Dyskeratosis congenita.

Marrone A, Mason PJ.

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

PMID:
12737310
20.

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.

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