Clinical utility gene card for: Gorlin syndrome

著者: Muzio, Lorenzo Lo, Pastorino, Lorenza, Levanat, Sonja, Musani, Vesna, Situm, Mima, Scarra, Giovanna Bianchi
出版事項 2011

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

著者: Ponti Giovanni, Tomasi Aldo, Pastorino Lorenza, Ruini Cristel, Guarneri Carmelo, Mandel Victor, Seidenari Stefania, Pellacani Giovanni
出版事項 2012-10-01

Clinical utility gene card for: Gorlin Syndrome - update 2013

著者: Muzio, Lorenzo Lo, Pastorino, Lorenza, Levanat, Sonja, Musani, Vesna, Situm, Mima, Ponti, Giovanni, Bianchi Scarra, Giovanna
出版事項 2013

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

著者: Spagnolo, Francesco, Ghiorzo, Paola, Orgiano, Laura, Pastorino, Lorenza, Picasso, Virginia, Tornari, Elena, Ottaviano, Vincenzo, Queirolo, Paola
出版年 Onco Targets Ther (2015)

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

著者: Ponti, Giovanni, Pastorino, Lorenza, Manfredini, Marco, Ozben, Tomris, Oliva, Gabriella, Kaleci, Shaniko, Iannella, Raffaele, Tomasi, Aldo
出版年 J Clin Lab Anal (2021)

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

著者: Ponti, Giovanni, Tomasi, Aldo, Pastorino, Lorenza, Ruini, Cristel, Guarneri, Carmelo, Mandel, Victor Desmond, Seidenari, Stefania, Pellacani, Giovanni
出版事項 2012

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

著者: Bruno, William, Andreotti, Virginia, Bisio, Alessandra, Pastorino, Lorenza, Fornarini, Giuseppe, Sciallero, Stefania, Bianchi-Scarrà, Giovanna, Inga, Alberto, Ghiorzo, Paola
出版年 PLoS One (2017)

Non-BRAF Mutant Melanoma: Molecular Features and Therapeutical Implications

著者: Vanni, Irene, Tanda, Enrica Teresa, Dalmasso, Bruna, Pastorino, Lorenza, Andreotti, Virginia, Bruno, William, Boutros, Andrea, Spagnolo, Francesco, Ghiorzo, Paola
出版年 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

著者: PONTI, GIOVANNI, POLLIO, ANNAMARIA, PASTORINO, LORENZA, PELLACANI, GIOVANNI, MAGNONI, CRISTINA, NASTI, SABINA, FORTUNA, GIULIO, TOMASI, ALDO, SCARRÀ, GIOVANNA BIANCHI, SEIDENARI, STEFANIA
出版事項 2012

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

著者: 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
出版年 Mol Cytogenet (2018)

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

著者: 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
出版年 Oncotarget (2017)

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

著者: 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
出版年 Oncotarget (2018)

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

著者: 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
出版事項 2012

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

著者: 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
出版年 Oncotarget (2016)

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

著者: 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
出版年 J Transl Med (2020)

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

著者: 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
出版年 J Med Genet (2020)

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

著者: 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
出版年 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

著者: 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
出版事項 2013

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

著者: 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
出版年 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

著者: 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.
出版年 Hum Genet (2016)