Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Richard Beswick"'
Autor:
Lisa Pleyer, Sonja Heibl, Christoph Tinchon, Sonia Vallet, Martin Schreder, Thomas Melchardt, Norbert Stute, Kim Tamara Föhrenbach Quiroz, Michael Leisch, Alexander Egle, Lukas Scagnetti, Dominik Wolf, Richard Beswick, Manuel Drost, Julian Larcher-Senn, Thomas Grochtdreis, Marc Vaisband, Jan Hasenauer, Nadja Zaborsky, Richard Greil, Reinhard Stauder
Publikováno v:
Cancers, Vol 15, Iss 5, p 1388 (2023)
In this prospective study (NCT01595295), 272 patients treated with azacitidine completed 1456 EuroQol 5-Dimension (EQ-5D) questionnaires. Linear mixed-effect modelling was used to incorporate longitudinal data. When compared with a matched reference
Externí odkaz:
https://doaj.org/article/12afb81fde8441279c3f40d5fe36376c
Autor:
Amanda J. Walne, Arran Dokal, Vincent Plagnol, Richard Beswick, Michael Kirwan, Josu de la Fuente, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
Haematologica, Vol 97, Iss 4 (2012)
The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to
Externí odkaz:
https://doaj.org/article/2c09deb0db47473bab0f34e616015e59
Autor:
Tom J Vulliamy, Michael J Kirwan, Richard Beswick, Upal Hossain, Charlotte Baqai, Anna Ratcliffe, Judith Marsh, Amanda Walne, Inderjeet Dokal
Publikováno v:
PLoS ONE, Vol 6, Iss 9, p e24383 (2011)
The bone marrow failure syndrome dyskeratosis congenita (DC) has been considered to be a disorder of telomere maintenance in which disease features arise due to accelerated shortening of telomeres. By screening core components of the telomerase and s
Externí odkaz:
https://doaj.org/article/e7a8b673d5de4d5b8f4daf453c2867d0
Autor:
Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan, Sally Killick, Mike Williams, Judith Marsh, Tom Vulliamy, Inderjeet Dokal
Publikováno v:
Haematologica, Vol 92, Iss 8 (2007)
Background and Objectives Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that te
Externí odkaz:
https://doaj.org/article/d3e5e18940114d99b61e1ebf24ac6cf1
Publikováno v:
2021 2nd International Conference on Communication, Computing and Industry 4.0 (C2I4).
Autor:
Gudrun Piringer, Richard Greil, Branka Petricevic, Lisa Pleyer, Manuel Drost, Alexander Egle, Julian Larcher-Senn, Sonja Vallet, Thomas Melchardt, Thomas Grochtdreis, Sonja Heibl, Christoph Tinchon, Richard Beswick, Dominik Wolf, Michael Leisch, Reinhard Stauder
Publikováno v:
Blood. 138:64-64
Background The EuroQuol 5 Dimension (EQ5D) is a validated tool to assess health-related quality of life (HRQoL). The International Prognostic Scoring System (IPSS) and the revised IPSS (R-IPSS) are the gold standards of prognostication in patients (p
Publikováno v:
Open Forum Infectious Diseases
Background Clostridium difficile infection (CDI) is now the most common pathogen causing nosocomial infectious diarrhea in the United States, and more than 500,000 people are estimated to have either healthcare-associated (HA) or community acquired (
Autor:
Inderjeet Dokal, Michael Kirwan, Amanda J. Walne, Tom Vulliamy, Richard Beswick, Upal Hossain
Publikováno v:
Clinical Genetics
Dyskeratosis congenita (DC) is a heterogeneous disorder, both genetically and phenotypically (1). Clinical presentation is classically defined by a triad of mucocutaneous features: abnormal reticulate skin pigmentation, nail dystrophy and leukoplakia
Publikováno v:
Human Molecular Genetics
Dyskeratosis congenita (DC) is an inherited poikiloderma which in addition to the skin abnormalities is typically associated with nail dystrophy, leucoplakia, bone marrow failure, cancer predisposition and other features. Approximately 50% of DC pati
Autor:
David T. Bowen, Stefan Schönland, Richard Beswick, Peter Hillmen, Inderjeet Dokal, Anthony McVerry, Tom Vulliamy, Anna Marrone, Michael Kirwan, Andrew K. Stewart, Amanda J. Walne, Annika Maria Whittle, Richard Kelly, Maria H. Gilleece
Publikováno v:
Human Mutation. 30:1567-1573
The primary pathology in many cases of myelodysplasia (MDS) and acute myeloid leukemia (AML) remains unknown. In some cases, two or more affected members have been identified in the same family. To date, mutations in two genes have been directly impl