Dokal I - Search Results

1

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Among authors: dokal i. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.

2

Fine mapping of the dyskeratosis congenita locus in Xq28.

Knight SW, Vulliamy T, Forni GL, Oscier D, Mason PJ, Dokal I. Knight SW, et al. Among authors: dokal i. J Med Genet. 1996 Dec;33(12):993-5. doi: 10.1136/jmg.33.12.993. J Med Genet. 1996. PMID: 9004129 Free PMC article.

3

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

Vulliamy TJ, Knight SW, Dokal I, Mason PJ. Vulliamy TJ, et al. Among authors: dokal i. Blood. 1997 Sep 15;90(6):2213-6. Blood. 1997. PMID: 9310472 Free article.

4

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Knight SW, Vulliamy TJ, Heiss NS, Matthijs G, Devriendt K, Connor JM, D'Urso M, Poustka A, Mason PJ, Dokal I. Knight SW, et al. Among authors: dokal i. J Med Genet. 1998 Dec;35(12):993-6. doi: 10.1136/jmg.35.12.993. J Med Genet. 1998. PMID: 9863595 Free PMC article.

5

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

Knight S, Vulliamy T, Copplestone A, Gluckman E, Mason P, Dokal I. Knight S, et al. Among authors: dokal i. Br J Haematol. 1998 Dec;103(4):990-6. doi: 10.1046/j.1365-2141.1998.01103.x. Br J Haematol. 1998. PMID: 9886310 Free article.

6

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.

7

Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation.

McCloy M, Almeida A, Daly P, Vulliamy T, Roberts IA, Dokal I. McCloy M, et al. Among authors: dokal i. Br J Haematol. 2001 Feb;112(2):427-9. doi: 10.1046/j.1365-2141.2001.02585.x. Br J Haematol. 2001. PMID: 11167843 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

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.

Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I. Knight SW, et al. Among authors: dokal i. Hum Genet. 2001 Apr;108(4):299-303. doi: 10.1007/s004390100494. Hum Genet. 2001. PMID: 11379875

10

Analysis of chimaerism in thalassaemic children undergoing stem cell transplantation.

Amrolia PJ, Vulliamy T, Vassiliou G, Lawson S, Bryon J, Kaeda J, Dokal I, Johnston R, Veys P, Darbyshire P, Roberts IA. Amrolia PJ, et al. Among authors: dokal i. Br J Haematol. 2001 Jul;114(1):219-25. doi: 10.1046/j.1365-2141.2001.02931.x. Br J Haematol. 2001. PMID: 11472371 Free article.

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