AMBROSINI, ENRICO
AMBROSINI, ENRICO
Familial DMRT1-related non-obstructive azoospermia: a case report
2024 Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing
2024 Barili, Valeria; Ambrosini, Enrico; Bortesi, Beatrice; Minari, Roberta; De Sensi, Erika; Cannizzaro, Ilenia Rita; Taiani, Antonietta; Michiara, Maria; Sikokis, Angelica; Boggiani, Daniela; Tommasi, Chiara; Serra, Olga; Bonatti, Francesco; Adorni, Alessia; Luberto, Anita; Caggiati, Patrizia; Martorana, Davide; Uliana, Vera; Percesepe, Antonio; Musolino, Antonino; Pellegrino, Benedetta
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
2023 Martorana, Davide; Barili, Valeria; Uliana, Vera; Ambrosini, Enrico; Riva, Matteo; De Sensi, Erika; Luppi, Elena; Messina, Corinne; Caleffi, Edoardo; Pisani, Francesco; Percesepe, Antonio
Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene
2020 Mastrangelo V.; Minardi R.; Baroni M.C.; Severi G.; Ambrosini E.; Toni F.; Alvisi L.; Licchetta L.; Bisulli F.; Tinuper P.; Mostacci B.
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families
2020 Mantovani V.; Bin S.; Graziano C.; Capelli I.; Minardi R.; Aiello V.; Ambrosini E.; Cristalli C.P.; Mattiaccio A.; Pariali M.; De Fanti S.; Faletra F.; Grosso E.; Cantone R.; Mancini E.; Mencarelli F.; Pasini A.; Wischmeijer A.; Sciascia N.; Seri M.; La Manna G.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| Familial DMRT1-related non-obstructive azoospermia: a case report | Severi, Giulia; Ambrosini, Enrico; Caramanna, Luca; Monti, Luigi; Magini, Pamela; Innella, Giovanni | 2024-01-01 | JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | - | 1.01 Articolo in rivista | - |
| Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing | Barili, Valeria; Ambrosini, Enrico; Bortesi, Beatrice; Minari, Roberta; De Sensi, Erika; Cannizza...ro, Ilenia Rita; Taiani, Antonietta; Michiara, Maria; Sikokis, Angelica; Boggiani, Daniela; Tommasi, Chiara; Serra, Olga; Bonatti, Francesco; Adorni, Alessia; Luberto, Anita; Caggiati, Patrizia; Martorana, Davide; Uliana, Vera; Percesepe, Antonio; Musolino, Antonino; Pellegrino, Benedetta | 2024-01-01 | GENES | - | 1.01 Articolo in rivista | - |
| Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory | Martorana, Davide; Barili, Valeria; Uliana, Vera; Ambrosini, Enrico; Riva, Matteo; De Sensi, Erik...a; Luppi, Elena; Messina, Corinne; Caleffi, Edoardo; Pisani, Francesco; Percesepe, Antonio | 2023-01-01 | EUROPEAN JOURNAL OF MEDICAL GENETICS | - | 1.01 Articolo in rivista | Martorana_2023.pdf |
| Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene | Mastrangelo V.; Minardi R.; Baroni M.C.; Severi G.; Ambrosini E.; Toni F.; Alvisi L.; Licchetta L....; Bisulli F.; Tinuper P.; Mostacci B. | 2020-01-01 | SEIZURE | - | 1.04 Replica / breve intervento (e simili) | - |
| Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families | Mantovani V.; Bin S.; Graziano C.; Capelli I.; Minardi R.; Aiello V.; Ambrosini E.; Cristalli C.P....; Mattiaccio A.; Pariali M.; De Fanti S.; Faletra F.; Grosso E.; Cantone R.; Mancini E.; Mencarelli F.; Pasini A.; Wischmeijer A.; Sciascia N.; Seri M.; La Manna G. | 2020-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | Mantovani V et al_Front Genet 2020.pdf |