LUPPI, ELENA
LUPPI, ELENA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Dottorandi
A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age
2023 Berti, Sabrina; Luppi, Elena; Seri, Marco; Zavatta, Guido
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
2023 Trevisan, Lucia; Godino, Lea; Battistuzzi, Linda; Innella, Giovanni; Luppi, Elena; Buzzatti, Giulia; Gismondi, Viviana; Blondeaux, Eva; Bonelli, Luigina Ada; Turchetti, Daniela; Varesco, Liliana
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
2023 Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Luppi, Elena; Fortuno, Cristina; Parsons, Michael T; Spurdle, Amanda B; Turchetti, Daniela
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
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age | Berti, Sabrina; Luppi, Elena; Seri, Marco; Zavatta, Guido | 2023-01-01 | JCEM case reports | - | 1.01 Articolo in rivista | - |
| Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention? | Trevisan, Lucia; Godino, Lea; Battistuzzi, Linda; Innella, Giovanni; Luppi, Elena; Buzzatti, Giul...ia; Gismondi, Viviana; Blondeaux, Eva; Bonelli, Luigina Ada; Turchetti, Daniela; Varesco, Liliana | 2023-01-01 | FAMILIAL CANCER | - | 1.01 Articolo in rivista | - |
| Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2 | Innella, Giovanni; Ferrari, Simona; Miccoli, Sara; Luppi, Elena; Fortuno, Cristina; Parsons, Mich...ael T; Spurdle, Amanda B; Turchetti, Daniela | 2023-01-01 | JOURNAL OF MEDICAL GENETICS | - | 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 |