Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, Dokal, Inderjeet
Published in Proceedings of the National Academy of Sciences - PNAS (10.06.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (10.06.2008)
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Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
Marrone, Anna, Walne, Amanda, Tamary, Hannah, Masunari, Yuka, Kirwan, Michael, Beswick, Richard, Vulliamy, Tom, Dokal, Inderjeet
Published in Blood (15.12.2007)
Published in Blood (15.12.2007)
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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations
Vulliamy, Tom J, Kirwan, Michael J, Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
Published in PloS one (13.09.2011)
Published in PloS one (13.09.2011)
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Health-Related Quality of Life as Assessed by the EQ-5D-5L Predicts Outcomes of Patients Treated with Azacitidine-A Prospective Cohort Study by the AGMT
Pleyer, Lisa, Heibl, Sonja, Tinchon, Christoph, Vallet, Sonia, Schreder, Martin, Melchardt, Thomas, Stute, Norbert, Föhrenbach Quiroz, Kim Tamara, Leisch, Michael, Egle, Alexander, Scagnetti, Lukas, Wolf, Dominik, Beswick, Richard, Drost, Manuel, Larcher-Senn, Julian, Grochtdreis, Thomas, Vaisband, Marc, Hasenauer, Jan, Zaborsky, Nadja, Greil, Richard, Stauder, Reinhard
Published in Cancers (22.02.2023)
Published in Cancers (22.02.2023)
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Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
Kirwan, Michael, Vulliamy, Tom, Marrone, Anna, Walne, Amanda J, Beswick, Richard, Hillmen, Peter, Kelly, Richard, Stewart, Andrew, Bowen, David, Schonland, Stefan O, Whittle, Annika Maria, McVerry, Anthony, Gilleece, Maria, Dokal, Inderjeet
Published in Human mutation (01.11.2009)
Published in Human mutation (01.11.2009)
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Exome sequencing identifies MPL as a causative gene in familial aplastic anemia
WALNE, Amanda J, DOKAL, Arran, PLAGNOL, Vincent, BESWICK, Richard, KIRWAN, Michael, DE LA FUENTE, Josu, VULLIAMY, Tom, DOKAL, Inderjeet
Published in Haematologica (Roma) (01.04.2012)
Published in Haematologica (Roma) (01.04.2012)
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Long-Term Antioxidant Administration Attenuates Mineralocorticoid Hypertension and Renal Inflammatory Response
Beswick, Richard A, Zhang, Hanfang, Marable, Dawnyetta, Catravas, John D, Hill, William D, Clinton Webb, R
Published in Hypertension (Dallas, Tex. 1979) (01.02.2001)
Published in Hypertension (Dallas, Tex. 1979) (01.02.2001)
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Conference Proceeding
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations
Marrone, Anna, Sokhal, Priya, Walne, Amanda, Beswick, Richard, Kirwan, Michael, Killick, Sally, Williams, Mike, Marsh, Judith, Vulliamy, Tom, Dokal, Inderjeet
Published in Haematologica (Roma) (01.08.2007)
Published in Haematologica (Roma) (01.08.2007)
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Poster #245 METABOLIC MONITORING FOR BLACK VS WHITE VETERANS WITH SCHIZOPHRENIA
Copeland, Laurel A, Zeber, lohn E, Phillips, Karon L, Beswick, Richard A
Published in Schizophrenia research (01.04.2012)
Published in Schizophrenia research (01.04.2012)
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A transcriptomics resource for wheat functional genomics
Wilson, Ian D., Barker, Gary L. A., Beswick, Richard W., Shepherd, Sophie K., Lu, Chungui, Coghill, Jane A., Edwards, David, Owen, Philippa, Lyons, Rebecca, Parker, Jill S., Lenton, John R., Holdsworth, Michael J., Shewry, Peter R., Edwards, Keith J.
Published in Plant biotechnology journal (01.11.2004)
Published in Plant biotechnology journal (01.11.2004)
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ICOS Ligand Costimulation Is Required for T-Cell Encephalitogenicity
Sporici, Romeo A., Beswick, Richard L., von Allmen, Carolyn, Rumbley, Catherine A., Hayden-Ledbetter, Martha, Ledbetter, Jeffrey A., Perrin, Peter J.
Published in Clinical immunology (Orlando, Fla.) (01.09.2001)
Published in Clinical immunology (Orlando, Fla.) (01.09.2001)
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Alteration of the embryo transcriptome of hexaploid winter wheat (Triticum aestivum cv. Mercia) during maturation and germination
WILSON, Ian D, BARKER, Gary L. A, CHUNGUI LU, COGHILL, Jane A, BESWICK, Richard W, LENTON, John R, EDWARDS, Keith J
Published in Functional & integrative genomics (01.07.2005)
Published in Functional & integrative genomics (01.07.2005)
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The NF-κB inhibitor diethyldithiocarbamate (DDTC) increases brain cell death in a transient middle cerebral artery occlusion model of ischemia
HILL, William D, HESS, David C, CARROLL, James E, WAKADE, Chandramohan G, HOWARD, Eugene F, QIANG CHEN, CHENG, Charles, MARTIN-STUDDARD, Angeline, WALLER, Jennifer L, BESWICK, Richard A
Published in Brain research bulletin (01.06.2001)
Published in Brain research bulletin (01.06.2001)
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TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Published in Blood (01.11.2008)
Published in Blood (01.11.2008)
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Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome
Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Published in Human molecular genetics (15.11.2010)
Published in Human molecular genetics (15.11.2010)
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Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, Dokal, Inderjeet
Published in Human molecular genetics (01.07.2007)
Published in Human molecular genetics (01.07.2007)
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The EQ-5D-5L Predicts Treatment Outcomes and Provides Added Value to the R-IPSS in Patients with MDS, CMML or AML Treated within the Austrian Azacitidine Registry - a Prospective Cohort Study By the AGMT Study Group
Pleyer, Lisa, Heibl, Sonja, Tinchon, Christoph, Vallet, Sonja, Petricevic, Branka, Leisch, Michael, Egle, Alexander, Melchardt, Thomas, Piringer, Gudrun, Wolf, Dominik, Beswick, Richard, Drost, Manuel, Larcher-Senn, Julian, Grochtdreis, Thomas, Greil, Richard, Stauder, Reinhard
Published in Blood (23.11.2021)
Published in Blood (23.11.2021)
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