Philip Mason
Philip Mason
CHOP
Dirección de correo verificada de email.chop.edu
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
Targeted disruption of the housekeeping gene encoding glucose 6‐phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against …
PP Pandolfi, F Sonati, R Rivi, P Mason, F Grosveld, L Luzzatto
The EMBO journal 14 (21), 5209-5215, 1995
5381995
Nucleic acid hybridisation: a practical approach
BD Hames, SJ Higgins
IRL press 144, 143, 1985
4661985
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
Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG‐A gene.
M Bessler, PJ Mason, P Hillmen, T Miyata, N Yamada, J Takeda, ...
The EMBO journal 13 (1), 110-117, 1994
3681994
Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency
N Draper, EA Walker, IJ Bujalska, JW Tomlinson, SM Chalder, W Arlt, ...
Nature genetics 34 (4), 434, 2003
3222003
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
Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly
AS Venteicher, Z Meng, PJ Mason, TD Veenstra, SE Artandi
cell 132 (6), 945-957, 2008
3122008
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
First measurement of electron neutrino appearance in NOvA
P Adamson, C Ader, M Andrews, N Anfimov, I Anghel, K Arms, ...
Physical review letters 116 (15), 151806, 2016
2562016
G6PD deficiency: the genotype-phenotype association
PJ Mason, JM Bautista, F Gilsanz
Blood reviews 21 (5), 267-283, 2007
2532007
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
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
Dyskeratosis Congenita (DC) Registry: identification of new features of DC
S Knight, T Vulliamy, A Copplestone, E Gluckman, P Mason, I Dokal
British journal of haematology 103 (4), 990-996, 1998
2041998
Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.
N Turner, PJ Mason, R Brown, M Fox, S Povey, A Rees, CD Pusey
The Journal of clinical investigation 89 (2), 592-601, 1992
2031992
Quantification of residual disease in chronic myelogenous leukemia patients on interferon-alpha therapy by competitive polymerase chain reaction
A Hochhaus, F Lin, A Reiter, H Skladny, PJ Mason, F Van Rhee, ...
Blood 87 (4), 1549-1555, 1996
2021996
Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing
Y Mochizuki, J He, S Kulkarni, M Bessler, PJ Mason
Proceedings of the National Academy of Sciences 101 (29), 10756-10761, 2004
1972004
El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.
Artículos 1–20