Tom Vulliamy
Tom Vulliamy
Prof of Molecular Biology, Barts and the London School of Medicine and Dentistry, Queen Mary
Dirección de correo verificada de qmul.ac.uk - Página principal
TítuloCitado porAño
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita
T Vulliamy, A Marrone, F Goldman, A Dearlove, M Bessler, PJ Mason, ...
Nature 413 (6854), 432, 2001
9712001
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions
NS Heiss, SW Knight, TJ Vulliamy, SM Klauck, S Wiemann, PJ Mason, ...
Nature genetics 19 (1), 32, 1998
9051998
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
T Vulliamy, A Marrone, R Szydlo, A Walne, PJ Mason, I Dokal
Nature genetics 36 (5), 447, 2004
4252004
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2016
4032016
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation
TJ Vulliamy, A Marrone, SW Knight, A Walne, PJ Mason, I Dokal
Blood 107 (7), 2680-2685, 2006
3162006
Association between aplastic anaemia and mutations in telomerase RNA
T Vulliamy, A Marrone, I Dokal, PJ Mason
The Lancet 359 (9324), 2168-2170, 2002
3022002
Glucose-6-phosphate dehydrogenase deficiency
A Mehta, PJ Mason, TJ Vulliamy
Best Practice & Research Clinical Haematology 13 (1), 21-38, 2000
2972000
Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5'non-coding region
MG Persico, G Viglietto, G Martini, D Toniolo, G Paonessa, C Moscatelli, ...
Nucleic acids research 14 (6), 2511-2522, 1986
2951986
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10
AJ Walne, T Vulliamy, A Marrone, R Beswick, M Kirwan, Y Masunari, ...
Human molecular genetics 16 (13), 1619-1629, 2007
2872007
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
T Vulliamy, R Beswick, M Kirwan, A Marrone, M Digweed, A Walne, ...
Proceedings of the National Academy of Sciences 105 (23), 8073-8078, 2008
2732008
Glucose-6-phosphate dehydrogenase
L Luzzatto, G Battistuzzi
Advances in Human Genetics 14, 217-329, 1985
2601985
Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
TJ Vulliamy, M D'urso, G Battistuzzi, M Estrada, NS Foulkes, G Martini, ...
Proceedings of the National Academy of Sciences 85 (14), 5171-5175, 1988
2561988
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
AJ Walne, T Vulliamy, R Beswick, M Kirwan, I Dokal
Blood 112 (9), 3594-3600, 2008
2522008
Dyskeratosis congenita
I Dokal
Stiehm's Immune Deficiencies, 267-280, 2014
2462014
Structural analysis of the X‐linked gene encoding human glucose 6‐phosphate dehydrogenase.
G Martini, D Toniolo, T Vulliamy, L Luzzatto, R Dono, G Viglietto, ...
The EMBO journal 5 (8), 1849-1855, 1986
2431986
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
TJ Vulliamy, SW Knight, PJ Mason, I Dokal
Blood Cells, Molecules, and Diseases 27 (2), 353-357, 2001
2412001
17 Glucose-6-Phosphate Dehydrogenase Deficiency
L Luzzatto, V Poggi
2352001
Inflammatory Skin and Bowel Disease Linked to ADAM17 Deletion
DC Blaydon, P Biancheri, WL Di, V Plagnol, RM Cabral, MA Brooke, ...
New England Journal of Medicine 365 (16), 1502-1508, 2011
2332011
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene
SW Knight, NS Heiss, TJ Vulliamy, S Greschner, G Stavrides, GS Pai, ...
The American Journal of Human Genetics 65 (1), 50-58, 1999
2331999
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1
SW Knight, NS Heiss, TJ Vulliamy, CM Aalfs, C McMahon, P Richmond, ...
British journal of haematology 107 (2), 335-339, 1999
2121999
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Artículos 1–20