Search Results - "DOKAL, I"

Dyskeratosis congenita: a genetic disorder of many faces by Kirwan, M, Dokal, I

“…Dyskeratosis congenita (DC) is an inherited syndrome exhibiting marked clinical and genetic heterogeneity. It is characterized by multiple features including…”
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Dyskeratosis congenita in all its forms by Dokal, Inderjeet

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Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia by Cardoso, S R, Ryan, G, Walne, A J, Ellison, A, Lowe, R, Tummala, H, Rio-Machin, A, Collopy, L, Al Seraihi, A, Wallis, Y, Page, P, Akiki, S, Fitzgibbon, J, Vulliamy, T, Dokal, I

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Dyskeratosis congenita. A disease of premature ageing by Dokal, I

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Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis by Walne, Amanda J, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Plagnol, Vincent, Albayrak, Canan, Albayrak, Davut, Kilic, Sara Sebnem, Patıroglu, Turkan, Akar, Haluk, Godfrey, Keith, Carter, Tina, Marafie, Makia, Vora, Ajay, Sundin, Mikael, Vulliamy, Thomas, Tummala, Hemanth, Dokal, Inderjeet

“…Dyskeratosis congenita is a highly pleotropic genetic disorder. This heterogeneity can lead to difficulties in making an accurate diagnosis and delays in…”
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A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment by Sbarrato, T, Horvilleur, E, Pöyry, T, Hill, K, Chaplin, L C, Spriggs, R V, Stoneley, M, Wilson, L, Jayne, S, Vulliamy, T, Beck, D, Dokal, I, Dyer, M J S, Yeomans, A M, Packham, G, Bushell, M, Wagner, S D, Willis, A E

“…We have used polysome profiling coupled to microarray analysis to examine the translatome of a panel of peripheral blood (PB) B cells isolated from 34 chronic…”
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Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex by Vulliamy, T.J., Dokal, I.

“…Dyskeratosis congenita is an inherited syndrome characterised by mucocutaneous features, bone marrow failure, an increased risk of malignancy and other somatic…”
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Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation by Jaganathan, B G, Tisato, V, Vulliamy, T, Dokal, I, Marsh, J, Dazzi, F, Bonnet, D

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X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora by Powell, J. B., Dokal, I., Carr, R., Taibjee, S., Cave, B., Moss, C.

“…Summary Dyskeratosis congenita (DC) is a clinically and genetically heterogeneous multisystem bone marrow failure disorder of telomere maintenance, which may…”
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Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2 by Vulliamy, T, Beswick, R, Kirwan, MJ, Hossain, U, Walne, AJ, Dokal, I

“…Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, Dokal I. Telomere length measurement can distinguish pathogenic from non‐pathogenic variants in the…”
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Mutations in the telomere capping complex in bone marrow failure and related syndromes by Walne, Amanda J, Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S

“…Dyskeratosis congenita and its variants have overlapping phenotypes with many disorders including Coats plus, and their underlying pathology is thought to be…”
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Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan by Amarasinghe, K, Dalley, C, Dokal, I, Laurie, A, Gupta, V, Marsh, J

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Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 by Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C. M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C. M., Poustka, A., Mason, P. J., Dokal, I.

“…Hoyeraal‐Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly,…”
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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 by GUARDIOLA, P, PASQUINI, R, LJUNGMAN, P, MINIERO, R, SHAW, P. J, SOUILLET, G, MICHALLET, M, BEKASSY, A. N, KRIVAN, G, DI BARTOLOMEO, P, HEILMANN, C, ZANESCO, L, DOKAL, I, CAHN, J. Y, ARCESE, W, BACIGALUPO, A, GLUCKMAN, E, ORTEGA, J. J, VAN WEEL-SIPMAN, M, MARSH, J. C. W, BALL, S. E, LOCATELLI, F, VERMYLEN, C, SKINNER, R

“…Allogeneic stem cell transplantation is the only treatment that can restore a normal hematopoiesis in Fanconi anemia (FA). In this retrospective multicenter…”
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Dyskeratosis congenita by Dokal, I

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Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita by Vuong, L G, Hemmati, P G, Neuburger, S, Terwey, T H, Vulliamy, T, Dokal, I, le Coutre, P, Dörken, B, Arnold, R

“…Dyskeratosis congenita (DC) is a rare inherited disorder characterized by the triad of nail dystrophy, mucosal leukoplakia, and reticular pigmentation. Bone…”
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Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance by Lo Ten Foe, J.R., Kwee, M.L. <b, Rooimans, M.A., Oostra, A.B., Veerman, A.J.R., van Weel, M., Pauli, R.M., Shahidi, N.T., Dokal, I., Roberts, I., Altay, C., Gluckman, E., Gibson, R.A., Mathew, C.G, Arwert, F., Joenje, H.

“…Approximately 25% of patients with Fanconi anemia (FA) have evidence of spontaneously occurring mosaicism as manifest by the presence of two subpopulations of…”
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Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors by DE LA FUENTE, J, REISS, S, MCCLOY, M, VULLIAMY, T, ROBERTS, I. A. G, RAHEMTULLA, A, DOKAL, I

“…Allogeneic haemopoietic stem cell transplantation (SCT) is the only curative option for severe bone marrow (BM) failure in patients with Fanconi anaemia (FA)…”
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Dyskeratosis congenita : Recent advances and future directions by DOKAL, I

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The genetics of Fanconi's anaemia by Dokal, Inderjeet

“…Fanconi's anaemia (FA) is an inherited bone marrow failure syndrome characterized by considerable clinical and cellular heterogeneity. This has also been…”
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