Clinical utility gene card for: Gorlin syndrome

by Muzio, Lorenzo Lo, Pastorino, Lorenza, Levanat, Sonja, Musani, Vesna, Situm, Mima, Scarra, Giovanna Bianchi
Published 2011

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

by Ponti Giovanni, Tomasi Aldo, Pastorino Lorenza, Ruini Cristel, Guarneri Carmelo, Mandel Victor, Seidenari Stefania, Pellacani Giovanni
Published 2012-10-01

Clinical utility gene card for: Gorlin Syndrome - update 2013

by Muzio, Lorenzo Lo, Pastorino, Lorenza, Levanat, Sonja, Musani, Vesna, Situm, Mima, Ponti, Giovanni, Bianchi Scarra, Giovanna
Published 2013

BRAF-mutant melanoma: treatment approaches, resistance mechanisms, and diagnostic strategies

by Spagnolo, Francesco, Ghiorzo, Paola, Orgiano, Laura, Pastorino, Lorenza, Picasso, Virginia, Tornari, Elena, Ottaviano, Vincenzo, Queirolo, Paola
Published in Onco Targets Ther (2015)

COVID‐19 spreading across world correlates with C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene prevalence

by Ponti, Giovanni, Pastorino, Lorenza, Manfredini, Marco, Ozben, Tomris, Oliva, Gabriella, Kaleci, Shaniko, Iannella, Raffaele, Tomasi, Aldo
Published in J Clin Lab Anal (2021)

Diagnostic and pathogenetic role of café-au-lait macules in nevoid basal cell carcinoma syndrome

by Ponti, Giovanni, Tomasi, Aldo, Pastorino, Lorenza, Ruini, Cristel, Guarneri, Carmelo, Mandel, Victor Desmond, Seidenari, Stefania, Pellacani, Giovanni
Published 2012

Functional analysis of a CDKN2A 5’UTR germline variant associated with pancreatic cancer development

by Bruno, William, Andreotti, Virginia, Bisio, Alessandra, Pastorino, Lorenza, Fornarini, Giuseppe, Sciallero, Stefania, Bianchi-Scarrà, Giovanna, Inga, Alberto, Ghiorzo, Paola
Published in PLoS One (2017)

Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications

by Vanni, Irene, Tanda, Enrica Teresa, Dalmasso, Bruna, Pastorino, Lorenza, Andreotti, Virginia, Bruno, William, Boutros, Andrea, Spagnolo, Francesco, Ghiorzo, Paola
Published in Front Mol Biosci (2020)

Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report

by PONTI, GIOVANNI, POLLIO, ANNAMARIA, PASTORINO, LORENZA, PELLACANI, GIOVANNI, MAGNONI, CRISTINA, NASTI, SABINA, FORTUNA, GIULIO, TOMASI, ALDO, SCARRÀ, GIOVANNA BIANCHI, SEIDENARI, STEFANIA
Published 2012

Cytogenetic/mutation profile of chronic lymphocytic leukemia/malignant melanoma collision tumors of the skin

by La Starza, Roberta, Pierini, Tiziana, Pastorino, Lorenza, Albi, Elisa, Matteucci, Caterina, Crescenzi, Barbara, Sportoletti, Paolo, Covarelli, Piero, Falzetti, Franca, Roti, Giovanni, Ascani, Stefano, Mecucci, Cristina
Published in Mol Cytogenet (2018)

Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations

by Bruno, William, Martinuzzi, Claudia, Dalmasso, Bruna, Andreotti, Virginia, Pastorino, Lorenza, Cabiddu, Francesco, Gualco, Marina, Spagnolo, Francesco, Ballestrero, Alberto, Queirolo, Paola, Grillo, Federica, Mastracci, Luca, Ghiorzo, Paola
Published in Oncotarget (2017)

Correction: Combining molecular and immunohistochemical analyses of key drivers in primary melanomas: interplay between germline and somatic variations

by Bruno, William, Martinuzzi, Claudia, Dalmasso, Bruna, Andreotti, Virginia, Pastorino, Lorenza, Cabiddu, Francesco, Gualco, Marina, Spagnolo, Francesco, Ballestrero, Alberto, Queirolo, Paola, Grillo, Federica, Mastracci, Luca, Ghiorzo, Paola
Published in Oncotarget (2018)

Novel PTCH1 Mutations in Patients with Keratocystic Odontogenic Tumors Screened for Nevoid Basal Cell Carcinoma (NBCC) Syndrome

by Pastorino, Lorenza, Pollio, Annamaria, Pellacani, Giovanni, Guarneri, Carmelo, Ghiorzo, Paola, Longo, Caterina, Bruno, William, Giusti, Francesca, Bassoli, Sara, Bianchi-Scarrà, Giovanna, Ruini, Cristel, Seidenari, Stefania, Tomasi, Aldo, Ponti, Giovanni
Published 2012

Heterogeneity and frequency of BRAF mutations in primary melanoma: Comparison between molecular methods and immunohistochemistry

by Bruno, William, Martinuzzi, Claudia, Andreotti, Virginia, Pastorino, Lorenza, Spagnolo, Francesco, Dalmasso, Bruna, Cabiddu, Francesco, Gualco, Marina, Ballestrero, Alberto, Bianchi-Scarrà, Giovanna, Queirolo, Paola, Grillo, Federica, Mastracci, Luca, Ghiorzo, Paola
Published in Oncotarget (2016)

Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients

by Ciccarese, Giulia, Dalmasso, Bruna, Bruno, William, Queirolo, Paola, Pastorino, Lorenza, Andreotti, Virginia, Spagnolo, Francesco, Tanda, Enrica, Ponti, Giovanni, Massone, Cesare, Drago, Francesco, Parodi, Aurora, Ghigliotti, Giovanni, Pizzichetta, Maria Antonietta, Ghiorzo, Paola
Published in J Transl Med (2020)

Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

by 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
Published in J Med Genet (2020)

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI)

by Vanni, Irene, Casula, Milena, Pastorino, Lorenza, Manca, Antonella, Dalmasso, Bruna, Andreotti, Virginia, Pisano, Marina, Colombino, Maria, Pfeffer, Ulrich, Tanda, Enrica Teresa, Rozzo, Carla, Paliogiannis, Panagiotis, Cossu, Antonio, Ghiorzo, Paola, Palmieri, Giuseppe
Published in Diagn Pathol (2020)

Proteomic Analysis of PTCH1+/− Fibroblast Lysate and Conditioned Culture Media Isolated from the Skin of Healthy Subjects and Nevoid Basal Cell Carcinoma Syndrome Patients

by Ponti, Giovanni, Bertazzoni, Giorgia, Pastorino, Lorenza, Monari, Emanuela, Cuoghi, Aurora, Bergamini, Stefania, Bellei, Elisa, Benassi, Luisa, Azzoni, Paola, Petrachi, Tiziana, Magnoni, Cristina, Pellacani, Giovanni, Loschi, Pietro, Pollio, Annamaria, Witkowski, Alexander Michael, Tomasi, Aldo
Published 2013

Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1

by Pastorino, Lorenza, Andreotti, Virginia, Dalmasso, Bruna, Vanni, Irene, Ciccarese, Giulia, Mandalà, Mario, Spadola, Giuseppe, Pizzichetta, Maria Antonietta, Ponti, Giovanni, Tibiletti, Maria Grazia, Sala, Elena, Genuardi, Maurizio, Chiurazzi, Pietro, Maccanti, Gabriele, Manoukian, Siranoush, Sestini, Serena, Danesi, Rita, Zampiga, Valentina, La Starza, Roberta, Stanganelli, Ignazio, Ballestrero, Alberto, Mastracci, Luca, Grillo, Federica, Sciallero, Stefania, Cecchi, Federica, Tanda, Enrica Teresa, Spagnolo, Francesco, Queirolo, Paola, Goldstein, Alisa M., Bruno, William, Ghiorzo, Paola
Published in Cancers (Basel) (2020)

Multiple rare variants in high-risk pancreatic cancer related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations

by Yang, Xiaohong R., Rotunno, Melissa, Xiao, Yanzi, Ingvar, Christian, Helgadottir, Hildur, Pastorino, Lorenza, van Doorn, Remco, Bennett, Hunter, Graham, Cole, Sampson, Joshua N., Malasky, Michael, Vogt, Aurelie, Zhu, Bin, Bianchi-Scarra, Giovanna, Bruno, William, Queirolo, Paola, Fornarini, Giuseppe, Hansson, Johan, Tuominen, Rainer, Burdett, Laurie, Hicks, Belynda, Hutchinson, Amy, Jones, Kristine, Yeager, Meredith, Chanock, Stephen J., Landi, Maria Teresa, Höiom, Veronica, Olsson, Håkan, Gruis, Nelleke, Ghiorzo, Paola, Tucker, Margaret A., Goldstein, Alisa M.
Published in Hum Genet (2016)