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Results: 1-19 |
Results: 19

Authors: Vulliamy, TJ Knight, SW Mason, PJ Dokal, I
Citation: Tj. Vulliamy et al., Very short telomeres in the peripheral blood of patients with X-linked andautosomal dyskeratosis congenita, BL CELL M D, 27(2), 2001, pp. 353-357

Authors: Vulliamy, TJ Knight, SW Mason, PJ Dokal, I
Citation: Tj. Vulliamy et al., Very short telomeres in the peripheral blood of patients with X-linked andautosomal dyskeratosis congenita, BL CELL M D, 27(2), 2001, pp. 353-357

Authors: Knight, SW Vulliamy, TJ Morgan, B Devriendt, K Mason, PJ Dokal, I
Citation: Sw. Knight et al., Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis, HUM GENET, 108(4), 2001, pp. 299-303

Authors: Vulliamy, T Marrone, A Goldman, F Dearlove, A Bessler, M Mason, PJ Dokal, I
Citation: T. Vulliamy et al., The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita, NATURE, 413(6854), 2001, pp. 432-435

Authors: Amrolia, PJ Vulliamy, T Vassiliou, G Lawson, S Bryon, J Kaeda, J Dokal, I Johnston, R Veys, P Darbyshire, P Roberts, IAG
Citation: Pj. Amrolia et al., Analysis of chimaerism in thalassaemic children undergoing stem cell transplantation, BR J HAEM, 114(1), 2001, pp. 219-225

Authors: McCloy, M Almeida, A Daly, P Vulliamy, T Roberts, IAG Dokal, I
Citation: M. Mccloy et al., Fludarabine-based stem cell transplantation protocol for Fanconi's anaemiain myelodysplastic transformation, BR J HAEM, 112(2), 2001, pp. 427-429

Authors: Dokal, I
Citation: I. Dokal, The genetics of Fanconi's anaemia, BEST P R C, 13(3), 2000, pp. 407-425

Authors: Dokal, I
Citation: I. Dokal, Dyskeratosis congenita in all its forms, BR J HAEM, 110(4), 2000, pp. 768-779

Authors: Faivre, L Guardiola, P Lewis, C Dokal, I Ebell, W Zatterale, Z Altay, C Poole, J Stones, D Kwee, ML van Weel-Sipman, M Havenga, C Morgan, N de Winter, J Digweed, M Savoia, A Pronk, J de Ravel, T Jansen, S Joenje, H Gluckman, E Mathew, CG
Citation: L. Faivre et al., Association of complementation group and mutation type with clinical outcome in Fanconi anemia, BLOOD, 96(13), 2000, pp. 4064-4070

Authors: Guardiola, P Pasquini, R Dokal, I Ortega, JJ van Weel-Sipman, M Marsh, JCW Ball, SE Locatelli, F Vermylen, C Skinner, R Ljungman, P Miniero, R Shaw, PJ Souillet, G Michallet, M Bekassy, AN Krivan, G Di Bartolomeo, P Heilmann, C Zanesco, L Cahn, JY Arcese, W Bacigalupo, A Gluckman, E
Citation: P. Guardiola et al., Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors: a study on behalf of the European Group for Blood and Marrow Transplantation, BLOOD, 95(2), 2000, pp. 422-429

Authors: Dokal, I
Citation: I. Dokal, Dyskeratosis congenita: Recent advances and future directions, J PED H ONC, 21(5), 1999, pp. 344-350

Authors: Liu, JM Kim, S Read, EJ Futaki, M Dokal, I Carter, CS Leitman, SF Pensiero, M Young, NS Walsh, CE
Citation: Jm. Liu et al., Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC), HUM GENE TH, 10(14), 1999, pp. 2337-2346

Authors: Wijker, M Morgan, NV Herterich, S van Berkel, CGM Tipping, AJ Gross, HJ Gille, JJP Pals, G Savino, M Altay, C Mohan, S Dokal, I Cavenagh, J Marsh, J Van Weel, M Ortega, JJ Schuler, D Samochatova, E Karwacki, M Bekassy, AN Abecasis, M Ebell, W Kwee, ML de Ravel, T Gibson, RA Gluckman, E Arwert, F Joenje, H Savoia, A Hoehn, H Pronk, JC Mathew, CG
Citation: M. Wijker et al., Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene, EUR J HUM G, 7(1), 1999, pp. 52-59

Authors: Knight, SW Heiss, NS Vulliamy, TJ Aalfs, CM McMahon, C Richmond, P Jones, A Hennekam, RCM Poustka, A Mason, PJ Dokal, I
Citation: Sw. Knight et al., Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1, BR J HAEM, 107(2), 1999, pp. 335-339

Authors: Marley, SB Lewis, JL Davidson, RJ Roberts, IAG Dokal, I Goldman, JM Gordon, MY
Citation: Sb. Marley et al., Evidence for a continuous decline in haemopoietic cell function from birth: application to evaluating bone marrow failure in children, BR J HAEM, 106(1), 1999, pp. 162-166

Authors: Dokal, I
Citation: I. Dokal, Dyskeratosis congenita, BR J HAEM, 105, 1999, pp. 11-15

Authors: Vulliamy, TJ Knight, SW Heiss, NS Smith, OP Poustka, A Dokal, I Mason, PJ
Citation: Tj. Vulliamy et al., Dyskeratosis congenita caused by a 3 ' deletion: Germline and somatic mosaicism in a female carrier, BLOOD, 94(4), 1999, pp. 1254-1260

Authors: Knight, SW Heiss, NS Vulliamy, TJ Greschner, S Stavrides, G Pai, GS Lestringant, G Varma, N Mason, PJ Dokal, I Poustka, A
Citation: Sw. Knight et al., X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene, AM J HU GEN, 65(1), 1999, pp. 50-58

Authors: Knight, S Vulliamy, T Copplestone, A Gluckman, E Mason, P Dokal, I
Citation: S. Knight et al., Dyskeratosis Congenita (DC) Registry: identification of new features of DC, BR J HAEM, 103(4), 1998, pp. 990-996
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