Latest papers

Breast cancer incidence and the effect of cigarette smoking in heterozygous carriers of mutations in the ataxia-telangiectasia gene.

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.

ATM gene variants in patients with idiopathic perifoveal telangiectasia.

Pathogenic ATM mutations occur rarely in a subset of multiple myeloma patients.

Aberrant V(D)J recombination in ataxia telangiectasia mutated-deficient lymphocytes is dependent on nonhomologous DNA end joining.

Restricted immunoglobulin constant heavy G chain genes in primary immunodeficiencies.

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.

Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation

The role of the DNA damage response in neuronal development, organization and maintenance

Polysomnographic values in adolescents with ataxia telangiectasia.

The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle

Defective responses to DNA single- and double-strand breaks in spinocerebellar ataxia

A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

Expression and Maintenance of Mitochondrial DNA

Vesical varices and telangiectasias in a patient with ataxia telangiectasia.

B-cell acute lymphoblastic leukemia in a child with ataxia telangiectasia.

Telomere length in lymphoblast cell lines derived from clinically radiosensitive cancer patients.

Papillary thyroid carcinoma in a 9-year-old girl with ataxia-telangiectasia.

Bladder wall telangiectasis causing life-threatening haematuria in ataxia-telangiectasia: a new observation.