| CODE | 67555 |
|---|---|
| ACADEMIC YEAR | 2022/2023 |
| CREDITS |
|
| SCIENTIFIC DISCIPLINARY SECTOR | MED/03 |
| LANGUAGE | Italian |
| TEACHING LOCATION |
|
| SEMESTER | 2° Semester |
| MODULES | This unit is a module of: |
| TEACHING MATERIALS | AULAWEB |
See integrated course of Pediatrics
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.
See integrated course of Pediatrics
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
Office hours: Please, make an appointment by e-mail apuliti@unige.it, or telephone 010-56362802. Address: UOC Genetica Medica, Istituto Giannina Gaslini, via Gaslini 5 Genova
Office hours: For appointment please write to: federico.zara@unige.it or telephone 010-56363816
PASQUALE STRIANO (President)
CARLO BELLINI
CLAUDIO BRUNO
Rosaria Casciaro
ALESSANDRO CONSOLARO
GIUSEPPE D'ANNUNZIO
ELISA DE GRANDIS
NATASCIA DI IORGI
CHIARA FIORILLO
ROBERTO GASTALDI
MARCO GATTORNO
MOHAMAD MAGHNIE
MARIA MARGHERITA MANCARDI
GIROLAMO MATTIOLI
LINO NOBILI
GIUSEPPA PATTI
ALDAMARIA PULITI
LUCA ANTONIO RAMENGHI
ANGELO RAVELLI
MARIA CRISTINA SCHIAFFINO
MICHELE TORRE
STEFANO VOLPI
CLARA MALATTIA (President and Coordinator of Integrated Course)
see integrated cours of pediatrics
All class schedules are posted on the EasyAcademy portal.