Simona Cavani

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

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

Jürgen Groet, Suzanne McElwaine, Mônica Glória Neumann Spínelli et al. · The Lancet · 2003 · 167 citations

Down Syndrome, Developmental Anomaly, Developmental Biology +9

Cytogenetic and molecular evaluation of 241 small supernumerary marker chromosomes: Cooperative study of 19 Italian laboratories

Leda Dalprà, Daniela Giardino, Palma Finelli et al. · Genetics in Medicine · 2005 · 105 citations · Full text

Genetic Testing, Cytogenetics, Genetic Disorder +13

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

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing <i>PRAME</i> as a specific discriminating marker

Suzanne McElwaine, Claire Mulligan, Jürgen Groet et al. · British Journal of Haematology · 2004 · 69 citations