Dokal I - Search Results

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. Jongmans MC, et al. Among authors: dokal i. Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341970 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

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.

Lo Ten Foe JR, Kwee ML, Rooimans MA, Oostra AB, Veerman AJ, van Weel M, Pauli RM, Shahidi NT, Dokal I, Roberts I, Altay C, Gluckman E, Gibson RA, Mathew CG, Arwert F, Joenje H. Lo Ten Foe JR, et al. Among authors: dokal i. Eur J Hum Genet. 1997 May-Jun;5(3):137-48. Eur J Hum Genet. 1997. PMID: 9272737

4

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.

5

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I. Heiss NS, et al. Among authors: dokal i. Nat Genet. 1998 May;19(1):32-8. doi: 10.1038/ng0598-32. Nat Genet. 1998. PMID: 9590285

6

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.

7

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.

8

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A. Knight SW, et al. Among authors: dokal i. Am J Hum Genet. 1999 Jul;65(1):50-8. doi: 10.1086/302446. Am J Hum Genet. 1999. PMID: 10364516 Free PMC article.

9

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.

10

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I. Knight SW, et al. Among authors: dokal i. Br J Haematol. 1999 Nov;107(2):335-9. doi: 10.1046/j.1365-2141.1999.01690.x. Br J Haematol. 1999. PMID: 10583221 Free article.

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