- A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
- A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
- Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affectedindividuals.
- Ataxia telangiectasia: more variation at clinical and cellular levels.
- Ataxia-telangiectasia: Immunodeficiency and survival.
- ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
- Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
- Chromosome instability syndromes.
- Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
- Gaze fixation deficits and their implication in ataxia-telangiectasia.
- Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
- Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
- Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia.
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
- Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
- Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
- Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants.
- Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
- Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
Página 1 de 2
- 1
- 2