GENOVESI, MARIA LUCE
GENOVESI, MARIA LUCE
DIPARTIMENTO DI BIOTECNOLOGIE CELLULARI ED EMATOLOGIA (attivo dal 01/01/1900 al 01/11/2018)
Fanconi anaemia, chromosome instability, DNA replication and fragile sites
2015 Pelliccia, Franca; Genovesi, Ml; Maccaroni, Klizia
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
2021 Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V.
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance
2020 Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana
Next generation sequencing approaches in rare diseases: the study of four different families
2019 Genovesi, MARIA LUCE
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation.
2019 Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies
2018 Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Fanconi anaemia, chromosome instability, DNA replication and fragile sites | 2015 | Pelliccia, Franca; Genovesi, Ml; Maccaroni, Klizia | |
| GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations | 2021 | Genovesi, M. L.; Guadagnolo, D.; Marchionni, E.; Giovannetti, A.; Traversa, A.; Panzironi, N.; Bernardo, S.; Palumbo, P.; Petrizzelli, F.; Carella, M.; Mazza, T.; Pizzuti, A.; Caputo, V. | |
| Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance | 2020 | Traversa, Alice; Marchionni, Enrica; Giovannetti, Agnese; Genovesi, Maria L; Panzironi, Noemi; Margiotti, Katia; Napoli, Giulia; Piceci Sparascio, Francesca; De Luca, Alessandro; Petrizzelli, Francesco; Carella, Massimo; Cardona, Francesco; Bernardo, Silvia; Manganaro, Lucia; Mazza, Tommaso; Pizzuti, Antonio; Caputo, Viviana | |
| Next generation sequencing approaches in rare diseases: the study of four different families | 2019 | Genovesi, MARIA LUCE | |
| Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. | 2019 | Traversa, A; Bernardo, S; Paiardini, A; Giovannetti, A; Marchionni, E; Genovesi, Ml; Guadagnolo, D; Torres, B; Paolacci, S; Bernardini, L; Mazza, T; Carella, M; Caputo, V; Pizzuti, A | |
| Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies | 2018 | Barbato, Ersilia; Traversa, Alice; Guarnieri, Rosanna; Giovannetti, Agnese; Genovesi, Maria Luce; Magliozzi, Maria Rosa; Paolacci, Stefano; Ciolfi, Andrea; Pizzi, Simone; Di Giorgio, Roberto; Tartaglia, Marco; Pizzuti, Antonio; Caputo, Viviana |