1. Brooke–Spiegler syndrome tumor spectrum beyond the skin: a patient carrying germline R936X CYLD mutation and a somatic CYLD mutation in Brenner tumor. (February 2014) Authors: Ponti, Giovanni; Ruini, Cristel; Girolomoni, Giampiero; Pellacani, Giovanni; Farnetani, Francesca; Pastorino, Lorenza; Ghiorzo, Paola; Witkowski, Alexander Michal; Bianchi-Scarrà, Giovanna; Tomasi, Aldo; Loschi, Pietro; Nasti, Sabina Journal: Future oncology Issue: Volume 10:Number 3(2014) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. Issue 3 (24th February 2012) Authors: Ghiorzo, Paola; Fornarini, Giuseppe; Sciallero, Stefania; Battistuzzi, Linda; Belli, Fiorenza; Bernard, Loris; Bonelli, Luigina; Borgonovo, Giacomo; Bruno, William; De Cian, Franco; DeCensi, Andrea; Filauro, Marco; Faravelli, Francesca; Gozza, Alberto; Gargiulo, Sara; Mariette, Frederique; Nasti,... Journal: Journal of medical genetics Issue: Volume 49:Issue 3(2012) Page Start: 164 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CDKN2A Unclassified Variants in Familial Malignant Melanoma: Combining Functional and Computational Approaches for Their Assessment. Issue 7 (21st May 2014) Authors: Scaini, Maria Chiara; Minervini, Giovanni; Elefanti, Lisa; Ghiorzo, Paola; Pastorino, Lorenza; Tognazzo, Silvia; Agata, Simona; Quaggio, Monica; Zullato, Daniela; Bianchi‐Scarrà, Giovanna; Montagna, Marco; D'Andrea, Emma; Menin, Chiara; Tosatto, Silvio C.E. Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 828 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Combining common genetic variants and non-genetic risk factors to predict risk of cutaneous melanoma. (30th July 2018) Authors: Gu, Fangyi; Chen, Ting-Huei; Pfeiffer, Ruth M; Fargnoli, Maria Concetta; Calista, Donato; Ghiorzo, Paola; Peris, Ketty; Puig, Susana; Menin, Chiara; De Nicolo, Arcangela; Rodolfo, Monica; Pellegrini, Cristina; Pastorino, Lorenza; Evangelou, Evangelos; Zhang, Tongwu; Hua, Xing; DellaValle, Curt T;... Journal: Human molecular genetics Issue: Volume 27:Number 23(2018:Dec. 01) Page Start: 4145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Definition and management of colorectal polyposis not associated with APC/MUTYH germline pathogenic variants: AIFEG consensus statement. Issue 4 (April 2021) Authors: Urso, Emanuele Damiano Luca; Ponz de Leon, Maurizio; Vitellaro, Marco; Piozzi, Guglielmo Niccolò; Bao, Quoc Riccardo; Martayan, Aline; Remo, Andrea; Stigliano, Vittoria; Oliani, Cristina; Lucci Cordisco, Emanuela; Pucciarelli, Salvatore; Ranzani, Guglielmina Nadia; Viel, Alessandra; Adami, France... Journal: Digestive and liver disease Issue: Volume 53:Issue 4(2021) Page Start: 409 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations. Issue 5 (5th October 2018) Authors: Helgadottir, Hildur; Ghiorzo, Paola; van Doorn, Remco; Puig, Susana; Levin, Max; Kefford, Richard; Lauss, Martin; Queirolo, Paola; Pastorino, Lorenza; Kapiteijn, Ellen; Potrony, Miriam; Carrera, Cristina; Olsson, Håkan; Höiom, Veronica; Jönsson, Göran Journal: Journal of medical genetics Issue: Volume 57:Issue 5(2020) Page Start: 316 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Evolution of approaches to identify melanoma missing heritability. (3rd May 2020) Authors: Dalmasso, Bruna; Ghiorzo, Paola Journal: Expert review of molecular diagnostics Issue: Volume 20:Number 5(2020) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents. Issue 2 (11th August 2006) Authors: Goldstein, Alisa M; Chan, May; Harland, Mark; Hayward, Nicholas K; Demenais, Florence; Timothy Bishop, D; Azizi, Esther; Bergman, Wilma; Bianchi-Scarra, Giovanna; Bruno, William; Calista, Donato; Cannon Albright, Lisa A; Chaudru, Valerie; Chompret, Agnes; Cuellar, Francisco; Elder, David E; Ghior... Other Names: group-author.; group-author. Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions. Issue 6 (14th August 2014) Authors: Barrett, Jennifer H.; Taylor, John C.; Bright, Chloe; Harland, Mark; Dunning, Alison M.; Akslen, Lars A.; Andresen, Per A.; Avril, Marie‐Françoise; Azizi, Esther; Bianchi Scarrà, Giovanna; Brossard, Myriam; Brown, Kevin M.; Dębniak, Tadeusz; Elder, David E.; Friedman, Eitan; Ghiorzo, Paola; Gilla... Journal: International journal of cancer Issue: Volume 136:Issue 6(2015:Mar. 15) Page Start: 1351 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1. Issue 6 (4th October 2021) Authors: Cardinale, Antonella; Cantalupo, Sueva; Lasorsa, Vito Alessandro; Montella, Annalaura; Cimmino, Flora; Succoio, Mariangela; Vermeulen, Michiel; Baltissen, Marijke P; Esposito, Matteo; Avitabile, Marianna; Formicola, Daniela; Testori, Alessandro; Bonfiglio, Ferdinando; Ghiorzo, Paola; Scalvenzi, M... Journal: Human molecular genetics Issue: Volume 31:Issue 6(2022) Page Start: 863 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗