CLINICAL FEATURES, CELLULAR PHENOTYPE AND ATM GENE MUTATION IN ATAXIA TELANGIECTASIA (AT) AND AT-VARIANT PATIENTS
- 2 Anni 1998/2000
- 103.291€ Totale Fondi
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Pubblicazioni Scientifiche
- 1999-06-01 AMERICAN JOURNAL OF HUMAN GENETICS
Splicing defects in the ataxia-telangiectasia gene, ATM:: Underlying mutations and consequences
- 2002-12-01 BLOOD
Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia
- 2000-06-01 BRITISH JOURNAL OF CANCER
ATM protein and p53-serine 15 phosphorylation in ataxia-telangiectasia (AT) patients and at heterozygotes
- 1999-06-01 CANCER RESEARCH
Defective control of apoptosis and mitotic spindle checkpoint in heterozygous carriers of ATM mutations
- 1998-11-01 CANCER RESEARCH
Defective control of apoptosis, radiosensitivity, and spindle checkpoint in ataxia telangiectasia
- 2000-12-01 EUROPEAN JOURNAL OF BIOCHEMISTRY
Efficient DNA base excision repair in ataxia telangiectasia cells
- 2001-05-15 HUMAN MOLECULAR GENETICS
hMRE11:: Genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
- 2004-09-15 HUMAN MOLECULAR GENETICS
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
- 1999-12-15 JOURNAL OF CELLULAR BIOCHEMISTRY
Changes of chromatin condensation in one patient with ataxia telangiectasia disorder: A structural study
- 2002-06-01 JOURNAL OF PEDIATRICS
Early diagnosis of ataxia-telangiectasia using radiosensitivity testing
- 2001-08-01 MOLECULAR AND CELLULAR BIOLOGY
Chk2 activation dependence on Nbs1 after DNA damage
- 2000-06-01 MOLECULAR GENETICS AND METABOLISM
Ataxia-telangiectasia: Phenotype/genotype studies of ATM protein expression, mutations, and radiosensitivity
- 1999-06-01 PRENATAL DIAGNOSIS
Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays
- 2002-08-01 RADIATION RESEARCH
Detection of ATM gene mutation in human glioma cell line M059J by a rapid frameshift/stop codon assay in yeast
