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

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma

2019 - HUMAN MUTATION

Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Mahmoudi, H.; Karamzadeh, R.; Kariminejad, A.; Huang, J.; Li, L.; Jannace, T. F.; Fortina, P.; Zeinali, S.; White, T. W.; Uitto, J.

A novel germline mutation at exon 10 of MEN1 gene: a clinical survey and positive genotype-phenotype analysis of a MEN1 Italian family, including monozygotic twins

2018 - HORMONES

Palermo, Andrea; Capoluongo, Ettore; Del Toro, Rossella; Manfrini, Silvia; Pozzilli, Paolo; Maggi, Daria; Defeudis, Giuseppe; Pantano, Francesco; Coppola, Roberto; Di Matteo, Francesco Maria; Raffaelli, Marco; Concolino, Paola; Falchetti, Alberto

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

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

2015 - EUROPEAN JOURNAL OF HUMAN GENETICS

Pinna, Valentina; Lanari, Valentina; Daniele, Paola; Consoli, Federica; Agolini, Emanuele; Margiotti, Katia; Bottillo, Irene; Torrente, Isabella; Bruselles, Alessandro; Fusilli, Caterina; Ficcadenti, Anna; Bargiacchi, Sara; Trevisson, Eva; Forzan, Monica; Giustini, Sandra; Leoni, Chiara; Zampino, Giuseppe; Digilio, Maria Cristina; Dallapiccola, Bruno; Clementi, Maurizio; Tartaglia, Marco; De Luca, Alessandro

A novel MGC4607/CCM2 gene mutation associated with cerebral spinal and cutaneous cavernous angiomas

2015 - JOURNAL OF MOLECULAR NEUROSCIENCE

Cigoli, M. S.; De Benedetti, S.; Marocchi, A.; Bacigaluppi, S.; Primignani, P.; Gesu, G.; Citterio, A.; Tassi, L.; Mecarelli, O.; Pulitano, P.; Penco, S.

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

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno