S. Knight

发表

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

T. Vulliamy, P. Mason, I. Dokal, 2011 .

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

T. Vulliamy, P. Mason, I. Dokal, 2006, Blood.

Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

K. Devriendt, T. Vulliamy, B. Morgan, 2001, Human Genetics.

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

T. Vulliamy, P. Mason, I. Dokal, 2001, Blood cells, molecules & diseases.

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

T. Vulliamy, P. Mason, I. Dokal, 1997, Blood.

Dyskeratosis Congenita (DC) Registry: identification of new features of DC

T. Vulliamy, E. Gluckman, P. Mason, 1998, British journal of haematology.

Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.

A. Poustka, T. Vulliamy, O. Smith, 1999, Blood.

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

A. Poustka, R. Hennekam, T. Vulliamy, 1999, British journal of haematology.

HLA-DQB1 upstream regulatory region polymorphism and type I diabetes.

A. Barnett, C. Mijovic, S. Knight, 1996, Tissue antigens.

Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression.

T. Vulliamy, P. Mason, D. Scopes, 1999, Blood cells, molecules & diseases.

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

A. Poustka, T. Vulliamy, G. Lestringant, 1999, American journal of human genetics.

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

S. Klauck, A. Poustka, S. Wiemann, 1998, Nature Genetics.

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

A. Poustka, M. D'urso, K. Devriendt, 1998, Journal of medical genetics.

Fine mapping of the dyskeratosis congenita locus in Xq28.

T. Vulliamy, D. Oscier, G. Forni, 1996, Journal of medical genetics.

Dyskeratosis Congenita Caused by a 3′ Deletion: Germline and Somatic Mosaicism in a Female Carrier

A. Poustka, T. Vulliamy, O. Smith, 1999 .

Mutation analysis of the DKC1 gene in incontinentia pigmenti

A. Poustka, A. Ciccodicola, T. Esposito, 1999, Journal of medical genetics.

The insulin gene region and susceptibility to insulin-dependent diabetes mellitus in four races; new insights from Afro-Caribbean race-specific haplotypes.

J. Heward, A. Barnett, K. Jacobs, 1997, Autoimmunity.

Finemapping ofthedyskeratosis congenita locus inXq28

T. Vulliamy, D. Oscier, S. Knight, 1996 .

locus in Xq 28 . Fine mapping of the dyskeratosis congenita

T. Vulliamy, D. Oscier, P. Mason, 2022 .

Treatment of Tuberculosis in HIV-infected Patients: We Need to Know More

P. Mason, I. Dokal, A. Marrone, 2007 .