Dokal I - Search Results

1

Dyskeratosis congenita: the first NIH clinical research workshop.

Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP. Savage SA, et al. Among authors: dokal i. Pediatr Blood Cancer. 2009 Sep;53(3):520-3. doi: 10.1002/pbc.22061. Pediatr Blood Cancer. 2009. PMID: 19415736 Free PMC article.

2

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Vulliamy TJ, et al. Among authors: dokal i. Blood. 2006 Apr 1;107(7):2680-5. doi: 10.1182/blood-2005-07-2622. Epub 2005 Dec 6. Blood. 2006. PMID: 16332973 Free article.

3

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I. Marrone A, et al. Among authors: dokal i. Blood. 2007 Dec 15;110(13):4198-205. doi: 10.1182/blood-2006-12-062851. Epub 2007 Sep 4. Blood. 2007. PMID: 17785587 Free PMC article.

4

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. Walne AJ, et al. Among authors: dokal i. Blood. 2008 Nov 1;112(9):3594-600. doi: 10.1182/blood-2008-05-153445. Epub 2008 Jul 30. Blood. 2008. PMID: 18669893 Free PMC article.

5

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Dokal I, Vulliamy T. Dokal I, et al. Blood Rev. 2003 Dec;17(4):217-25. doi: 10.1016/s0268-960x(03)00020-1. Blood Rev. 2003. PMID: 14556776 Review.

6

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I. Walne AJ, et al. Among authors: dokal i. Haematologica. 2016 Oct;101(10):1180-1189. doi: 10.3324/haematol.2016.147769. Epub 2016 Sep 9. Haematologica. 2016. PMID: 27612988 Free PMC article.

7

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. Vulliamy TJ, et al. Among authors: dokal i. Blood. 1999 Aug 15;94(4):1254-60. Blood. 1999. PMID: 10438713 Free article.

8

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

Vulliamy TJ, Knight SW, Mason PJ, Dokal I. Vulliamy TJ, et al. Among authors: dokal i. Blood Cells Mol Dis. 2001 Mar-Apr;27(2):353-7. doi: 10.1006/bcmd.2001.0389. Blood Cells Mol Dis. 2001. PMID: 11259155

9

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. Marrone A, et al. Among authors: dokal i. Blood. 2004 Dec 15;104(13):3936-42. doi: 10.1182/blood-2004-05-1829. Epub 2004 Aug 19. Blood. 2004. PMID: 15319288 Free article.

10

Dyskeratosis congenita.

Dokal I. Dokal I. Hematology Am Soc Hematol Educ Program. 2011;2011:480-6. doi: 10.1182/asheducation-2011.1.480. Hematology Am Soc Hematol Educ Program. 2011. PMID: 22160078 Review.

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