Concepedia

Author

Philip J. Mason

Hammersmith Hospital

Also Known As

Bessler, Monica, P J Mason, P Mason, P. J. Mason, P. Mason, P.J. Mason, Philip J Mason, Philip J. MASON, Philip J. Mason, Philip Mason

251

Publications

12.3K

Citations

54

H-Index

139

Concepts

All Affiliations

Hammersmith HospitalChildren's Hospital of PhiladelphiaWashington University in St. LouisUniversity of PennsylvaniaImperial College London
PJ

About

Philip J. Mason is an author at Hammersmith Hospital specializing in medicine, genetics, and molecular genetics.

Top Concepts

#ConceptH-IndexPublicationsCitations

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Medicine

40

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7.7K

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Natural Sciences

21

25

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Health Sciences

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806

4

Engineering

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Humanities

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120

Philip J. Mason

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100

Publications

10.8K

Citations

50

H-Index

YearCitations

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Tom Vulliamy, Anna Marrone, Frederick D. Goldman,

Nature

2001

948

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Nina S. Heiss, S. W. Knight, Tom Vulliamy,

Nature Genetics

1998

944

Targeted disruption of the housekeeping gene encoding glucose 6-phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against oxidative stress.

Pier Paolo Pandolfi, F. Sonati, Roberta Rivi,

The EMBO Journal

1995

550

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Tom Vulliamy, Anna Marrone, Richard Szydlo,

Nature Genetics

2004

459

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

Monica Bessler, Philip J. Mason, Peter Hillmen,

The EMBO Journal

1994

401

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

Tom Vulliamy, Anna Marrone, S. W. Knight,

Blood

2005

335

Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly

Andrew S. Venteicher, Zhaojing Meng, Philip J. Mason,

Cell

2008

329

Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Nicole L. Draper, Elizabeth A. Walker, Iwona Bujalska,

Nature Genetics

2003

284

Association between aplastic anaemia and mutations in telomerase RNA

Tom Vulliamy, Anna Marrone, Inderjeet Dokal,

The Lancet

2002

274

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

S. W. Knight, Nina S. Heiss, T. Vulliamy,

The American Journal of Human Genetics

1999

260

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