M. Pierluigi

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

Gene Deletion Data, Molecular Characterisation, Italian Cdcs Register +11

Cryptic chromosome deletions involving <i>SCN1A</i> in severe myoclonic epilepsy of infancy

Francesca Madia, Pasquale Striano, Elena Di Gennaro et al. · Neurology · 2006 · 79 citations

Mutation analysis of the <i>NSD1</i> gene in a group of 59 patients with congenital overgrowth

Maurizio Cecconi, Francesca Forzano, Donatella Milani et al. · American Journal of Medical Genetics Part A · 2005 · 70 citations

Effect of X-rays on chromosome 21 nondisjunction

Paolo Strigini, M. Pierluigi, Gian Luca Forni et al. · American Journal of Medical Genetics · 2005 · 48 citations

First-trimester euploid miscarriages analysed by array-CGH

Chiara Viaggi, Simona Cavani, Michela Malacarne et al. · Journal of Applied Genetics · 2013 · 47 citations

Infertility, Abortion, Miscarriage Testing +8