See integrated course of Pediatrics
Students are provided with knowledge about responsible genes and mechanisms of disease of monogenic hereditary diseases, including extensions due to genetic and allelic heterogeneity, penetrance and variable expression.
New diagnostic tools: CGH-Array and New Generation Sequencing.
Theoretical basis of complex hereditary diseases and the tools used to search genetic factors of susceptibility are discussed.
Recognize and classify the major congenital malformations, malformative syndromes and chromosomal illnesses
Identify environmental, external or intrauterine factors that may contribute to the handling of unfavorable hereditary characters and / or malformations
Traditional and molecular chromosome study
Approach to diseases with heterogeneous genetic etiology
Esome analysis
See integrated course of pediatrics
Ricevimento: make an appointment by e-mail apuliti@unige.it, or telephone 010-56362802. Address: UOC Genetica Medica, Istituto Giannina Gaslini, via Gaslini 5 Genova
Ricevimento: For appointment please write to: federico.zara@unige.it
PASQUALE STRIANO (President)
CARLO BELLINI
RENATA BOCCIARDI
CLAUDIO BRUNO
Rosaria Casciaro
ALESSANDRO CONSOLARO
GIUSEPPE D'ANNUNZIO
ELISA DE GRANDIS
NATASCIA DI IORGI
CHIARA FIORILLO
ROBERTO GASTALDI
CLARA MALATTIA
MARIA MARGHERITA MANCARDI
GIUSEPPE MARTUCCIELLO
GIROLAMO MATTIOLI
CARLO MINETTI
LINO NOBILI
GIUSEPPA PATTI
ALDAMARIA PULITI
LUCA ANTONIO RAMENGHI
ANGELO RAVELLI
VINCENZO SALPIETRO DAMIANO
MARIA CRISTINA SCHIAFFINO
MICHELE TORRE
STEFANO VOLPI
MOHAMAD MAGHNIE (President and Coordinator of Integrated Course)
see integrated cours of pediatrics
