ATAXIA TALANGIECTASIA: DEVELOPMENT OF MOLECULAR GENETICS ASSAYS FOR THE IDENTIFICATION OF HOMOZYGOUS AND HETEROZYGOUS CARRIERS OF THE MUTATED ATM GENE

Pubblicazioni Scientifiche

• CANCER RESEARCH

  The ATM gene and susceptibility to breast cancer: Analysis of 38 breast tumors reveals no evidence for mutation

• EUROPEAN JOURNAL OF HUMAN GENETICS

  Exon-scanning mutation analysis of the ATM gene in patients with ataxia-telangiectasia

• HUMAN MOLECULAR GENETICS

  Predominance of null mutations in ataxia-telangiectasia

• HUMAN MUTATION

  Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel

• MOLECULAR AND CELLULAR BIOLOGY

  Brap2 functions as a cytoplasmic retention protein for p21 during monocyte differentiation

• PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

  The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage