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Cancer risks and mortality in heterozygous ATM mutation carriers
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A common founder mutation in FANCA underlies the world's highest prevalence of Fanconi anemia in Gypsy families from Spain
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Immunodeficiency and infections in ataxia-telangiectasia
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Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2
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NBS1 is a prostate cancer susceptibility gene
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Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population
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Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia
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JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE (2003)
A novel ubiquitin ligase is deficient in Fanconi anemia
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Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome
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MEDICAL AND PEDIATRIC ONCOLOGY (2003)
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome
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MOLECULAR AND CELLULAR BIOLOGY (2003)
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JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2003)
A 20-year perspective on the International Fanconi Anemia Registry (IFAR)
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Abnormalities in the T and NK lymphocyte phenotype in patients with Nijmegen breakage syndrome
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CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2003)
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AMERICAN JOURNAL OF OPHTHALMOLOGY (2002)
Heterogeneity of humoral immune abnormalities in children with Nijmegen breakage syndrome: an 8-year follow-up study in a single centre
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CLINICAL AND EXPERIMENTAL IMMUNOLOGY (2002)
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
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BLM heterozygosity and the risk of colorectal cancer
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Biallelic inactivation of BRCA2 in Fanconi anemia
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Early diagnosis of ataxia-telangiectasia using radiosensitivity testing
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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
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Interaction of the fanconi anemia proteins and BRCA1 in a common pathway
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