TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Por Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Publicado em 2008

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Por Walne, Amanda J., Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Dokal, Inderjeet
Publicado em 2010

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

Por Vulliamy, Tom, Beswick, Richard, Kirwan, Michael, Marrone, Anna, Digweed, Martin, Walne, Amanda, Dokal, Inderjeet
Publicado em 2008

Dyskeratosis congenita and the DNA damage response

Por Kirwan, Michael, Beswick, Richard, Walne, Amanda J, Hossain, Upal, Casimir, Colin, Vulliamy, Tom, Dokal, Inderjeet
Publicado em 2011

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

Por Marrone, Anna, Walne, Amanda, Tamary, Hannah, Masunari, Yuka, Kirwan, Michael, Beswick, Richard, Vulliamy, Tom, Dokal, Inderjeet
Publicado em 2007

Poly(ADP-ribose) polymerase-1 (Parp-1)-deficient mice demonstrate abnormal antibody responses

Por Ambrose, Helen E, Willimott, Shaun, Beswick, Richard W, Dantzer, Françoise, de Murcia, Josiane Ménissier, Yelamos, José, Wagner, Simon D
Publicado em 2009

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

Por Walne, Amanda J., Dokal, Arran, Plagnol, Vincent, Beswick, Richard, Kirwan, Michael, de la Fuente, Josu, Vulliamy, Tom, Dokal, Inderjeet
Publicado em 2012

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations

Por Marrone, Anna, Sokhal, Priya, Walne, Amanda, Beswick, Richard, Kirwan, Michael, Killick, Sally, Williams, Mike, Marsh, Judith, Vulliamy, Tom, Dokal, Inderjeet
Publicado em 2007

Differences in Disease Severity but Similar Telomere Lengths in Genetic Subgroups of Patients with Telomerase and Shelterin Mutations

Por Vulliamy, Tom J., Kirwan, Michael J., Beswick, Richard, Hossain, Upal, Baqai, Charlotte, Ratcliffe, Anna, Marsh, Judith, Walne, Amanda, Dokal, Inderjeet
Publicado em 2011

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

Por Walne, Amanda J., Vulliamy, Tom, Marrone, Anna, Beswick, Richard, Kirwan, Michael, Masunari, Yuka, Al-Qurashi, Fat-hia, Aljurf, Mahmoud, Dokal, Inderjeet
Publicado em 2007