Pubblicazioni

Cancer risk and tumour spectrum in 172 patients with a germline SUFU pathogenic variation: a collaborative study of the SIOPE Host Genome Working Group

2022 - JOURNAL OF MEDICAL GENETICS

Guerrini-Rousseau, LÃ©a; Masliah-Planchon, Julien; Waszak, Sebastian M; Alhopuro, Pia; Benusiglio, Patrick R; Bourdeaut, Franck; Brecht, Ines B; Del Baldo, Giada; Dhanda, Sandeep Kumar; GarrÃ¨, Maria Luisa; Gidding, Corrie E M; Hirsch, Steffen; Hoarau, Pauline; Jorgensen, Mette; Kratz, Christian; Lafay-Cousin, Lucie; Mastronuzzi, Angela; Pastorino, Lorenza; Pfister, Stefan M; Schroeder, Christopher; Smith, Miriam Jane; Vahteristo, Pia; Vibert, Roseline; Vilain, Catheline; Waespe, Nicolas; Winship, Ingrid M; Evans, D Gareth; Brugieres, Laurence

A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell acute lymphoblastic leukemia

2020 - AMERICAN JOURNAL OF HEMATOLOGY

Marzollo, A.; Maestrini, G.; La Starza, R.; Elia, L.; Malfona, F.; Pierini, T.; Tretti Parenzan, C.; Coppe, A.; Bortoluzzi, S.; Biffi, A.; Mecucci, C.; Bresolin, S.; Testi, A. M.

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

Parp inhibitors as maintenance treatment in platinum sensitive recurrent ovarian cancer. an updated meta-analysis of randomized clinical trials according to brca mutational status

2019 - CANCER TREATMENT REVIEWS

Tomao, F.; Bardhi, E.; Di Pinto, A.; Sassu, C. M.; Biagioli, E.; Petrella, M. C.; Palaia, I.; Muzii, L.; Colombo, N.; Panici, P. B.

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

2018 - BMC MEDICAL GENETICS

Baban, A.; Magliozzi, M.; Loeys, B.; Adorisio, R.; Alesi, V.; Secinaro, A.; Corica, B.; Vricella, L.; Dietz, H. C.; Drago, F.; Novelli, A.; Amodeo, A.

PTCH1 germline mutations and the basaloid follicular hamartoma values in the tumor spectrum of basal cell carcinoma syndrome (NBCCS)

2018 - ANTICANCER RESEARCH

Ponti, Giovanni; Manfredini, Marco; Pastorino, Lorenza; Maccaferri, Monia; Tomasi, Aldo; Pellacani, Giovanni

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

Recommendations for the implementation of BRCA testing in the care and treatment pathways of ovarian cancer patients

2016 - FUTURE ONCOLOGY

Pinto, Carmine; Bella, Maria Angela; Capoluongo, Ettore; Carrera, Paola; Clemente, Claudio; Colombo, Nicoletta; Cortesi, Laura; De Rosa, Gaetano; Fenizia, Francesca; Genuardi, Maurizio; Gori, Stefania; Guarneri, Valentina; Marchetti, Antonio; Marchetti, Paolo; Normanno, Nicola; Pasini, Barbara; Pignata, Sandro; Radice, Paolo; Ricevuto, Enrico; Russo, Antonio; Tagliaferri, Pierosandro; Tassone, Pierfrancesco; Truini, Mauro; Varesco, Liliana

Ricerc@Sapienza