Pubblicazioni

A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome

2020 - DERMATOLOGY ONLINE JOURNAL

Bottillo, Irene; Valiante, Michele; Menale, Lucia; Paiardini, Alessandro; Papi, Laura; Janson, Giacomo; Sestini, Roberta; Iorio, Alessandra; De Simone, Paola; Frascione, Pasquale; Grammatico, Paola

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

2019 - NEW ENGLAND JOURNAL OF MEDICINE

Apellaniz-Ruiz, Maria; Segni, Maria; Kettwig, Matthias; GlÃ¼er, Sylvia; Pelletier, Dylan; Nguyen, Van-Hung; Wagener, Rabea; Lopez, Maria Cristina; Muchantef, Karl; Bouron-Dal Soglio, DorothÃ©e; Sabbaghian, Nelly; Wu, Mona K; Zannella, Stefano; Fabian, Marc R; Siebert, Reiner; Menke, Jan; Priest, John R; Foulkes, William D

Genetic counselling and high-penetrance susceptibility gene analysis reveal the novel CDKN2A p.D84V (c.251A>T) mutation in melanoma-prone families from Italy

2017 - MELANOMA RESEARCH

Borroni, Riccardo G.; Manganoni, Ausilia M.; Grassi, Sara; Grasso, Maurizia; Diegoli, Marta; Giorgianni, Carmela; Favalli, Valentina; Pavoni, Laura; Cespa, Maddalena; Arbustini, Eloisa

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

2017 - HUMAN MOLECULAR GENETICS

Palencia-Campos, A.; Ullah, A.; Nevado, J.; Yildirim, R.; Unal, E.; Ciorraga, M.; Barruz, P.; Chico, L.; Piceci-Sparascio, F.; Guida, V.; De Luca, A.; Kayserili, H.; Ullah, I.; Burmeister, M.; Lapunzina, P.; Ahmad, W.; Morales, A. V.; Ruiz-Perez, V. L.

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel â¼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16

2016 - BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY

CASTORI, MARCO; BOTTILLO, IRENE; Morlino, Silvia; BARONE, CHIARA; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati

Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

2015 - EPILEPSY RESEARCH

Dazzo, Emanuela; Santulli, Lia; Posar, Annio; Fattouch, Jinane; Conti, Sara; LodÃ©n van Straaten, Martin; Mijalkovic, Jona; De Bortoli, Marzia; Rosa, Maurizio; Millino, Caterina; Pacchioni, Beniamina; Di Bonaventura, Carlo; Giallonardo, Anna Teresa; Striano, Salvatore; Striano, Pasquale; Parmeggiani, Antonia; Nobile, Carlo