Concepedia

Chiara Perfumo

CP

Statistics

Publications

12

Citations

547

H-Index

12

Active since

1996

Affiliations

Istituto Giannina Gaslini(Current)

Ente Ospedaliero Ospedali Galliera

University of Genoa

Chiara Perfumo is an author at Istituto Giannina Gaslini specializing in genetics, life sciences, and human genetics.

Publications per year

1996–2015

12

Publications

12

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation

Mainardi Pc, Chiara Perfumo, Gabriella Coucourde et al. · Journal of Medical Genetics · 2001 · 205 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>FANCM</i>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 et al. · Human Molecular Genetics · 2015 · 96 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Dominant-Negative Features of Mutant <i>TP53</i> in Germline Carriers Have Limited Impact on Cancer Outcomes

Paola Monti, Chiara Perfumo, Alessandra Bisio et al. · Molecular Cancer Research · 2011 · 77 citations · Full text

Life Sciences, Genetics, Oncology +17

Maternal Uniparental Disomy for Chromosome 14

Domenico Coviello, E. Panucci, M.M. Mantero et al. · Acta geneticae medicae et gemellologiae twin research · 1996 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q

Simona Cavani, Chiara Perfumo, Alessandra Argusti et al. · British Journal of Haematology · 1998 · 24 citations

Life Sciences, Genetics, Molecular Genetics +13

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