Associated Papers
Germline ATM variants predispose to melanoma: a joint analysis across the GenoMEL and MelaNostrum consortia.
Dalmasso B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature.
Moeini Shad T et al.
Frontiers in Immunology, 2021
Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.
Yadav S et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K et al.
Annals of Neurology, 2019
30549301 (PubMed )
Supplement: ANA-85-170-s001.pdf
Ataxia-telangiectasia: Immunodeficiency and survival.
van Os NJH et al.
Clinical Immunology (orlando, Fla.), 2017
Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.
Yamamoto K et al.
Elife, 2016
27304073 (PubMed )
Supplement: elife-14709-supp1.xlsx › Supplementary_Information_1A
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
Prodosmo A et al.
The Journal of Clinical Investigation, 2013
Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.
Chessa L et al.
Annals of Human Genetics, 2009
Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.
Cavalieri S et al.
Annals of Human Genetics, 2008
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.
Cavalieri S et al.
Human Mutation, 2006
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