Publications by authors named "Chiara Perfumo"

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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Paolo Peterlongo, Irene Catucci, Mara Colombo, Laura Caleca, Eliseos Mucaki, Chiara Perfumo

Hum Mol Genet· September 2015

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The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations.
Maria Teresa Ricci, Loredana Pennese, Viviana Gismondi, Chiara Perfumo, Marina Grasso

Eur J Hum Genet· February 2014

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Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.
Paola Monti, Chiara Perfumo, Alessandra Bisio, Yari Ciribilli, Paola Menichini

Mol Cancer Res· March 2011

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MDM2 SNP309 genotype is associated with ferritin and LDH serum levels in children with stage 4 neuroblastoma.
Stefano Parodi, Chiara Perfumo, Alberto Garaventa, Alberto Inga, Katia Mazzocco

Pediatr Blood Cancer· August 2010

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XRCC1 deficiency influences the cytotoxicity and the genomic instability induced by Me-lex, a specific inducer of N3-methyladenine.
Debora Russo, Gilberto Fronza, Laura Ottaggio, Paola Monti, Chiara Perfumo

DNA Repair (Amst)· July 2010

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MDM2 SNP309 genotype influences survival of metastatic but not of localized neuroblastoma.
Chiara Perfumo, Stefano Parodi, Katia Mazzocco, Raffaella Defferrari, Alberto Inga

Pediatr Blood Cancer· October 2009

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Rev1 and Polzeta influence toxicity and mutagenicity of Me-lex, a sequence selective N3-adenine methylating agent.
Paola Monti, Yari Ciribilli, Debora Russo, Alessandra Bisio, Chiara Perfumo

DNA Repair (Amst)· March 2008

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Increased risk of colorectal adenomas in Italian subjects carrying the p53 PIN3 A2-Pro72 haplotype.
Chiara Perfumo, Luigina Bonelli, Paola Menichini, Alberto Inga, Viviana Gismondi

Digestion· August 2007

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