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Clinical utility gene card for: Gorlin syndrome--update 2013.
Lo Muzio L, Pastorino L, Levanat S, Musani V, Situm M, Ponti G, Bianchi Scarra G. Lo Muzio L, et al. Among authors: bianchi scarra g. Eur J Hum Genet. 2013 Oct;21(10). doi: 10.1038/ejhg.2012.299. Epub 2013 Jan 30. Eur J Hum Genet. 2013. PMID: 23361221 Free PMC article. No abstract available.
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.
Pastorino L, Pollio A, Pellacani G, Guarneri C, Ghiorzo P, Longo C, Bruno W, Giusti F, Bassoli S, Bianchi-Scarrà G, Ruini C, Seidenari S, Tomasi A, Ponti G. Pastorino L, et al. Among authors: bianchi scarra g. PLoS One. 2012;7(8):e43827. doi: 10.1371/journal.pone.0043827. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952776 Free PMC article.
Brooke-Spiegler syndrome: report of two cases not associated with a mutation in the CYLD and PTCH tumor-suppressor genes.
Ponti G, Nasti S, Losi L, Pastorino L, Pollio A, Benassi L, Giudice S, Bertazzoni G, Veratti E, Azzoni P, Bianchi Scarrà G, Seidenari S. Ponti G, et al. Among authors: bianchi scarra g. J Cutan Pathol. 2012 Mar;39(3):366-71. doi: 10.1111/j.1600-0560.2011.01813.x. Epub 2011 Nov 12. J Cutan Pathol. 2012. PMID: 22077640 Clinical Trial.
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.
Yang XR, Rotunno M, Xiao Y, Ingvar C, Helgadottir H, Pastorino L, van Doorn R, Bennett H, Graham C, Sampson JN, Malasky M, Vogt A, Zhu B, Bianchi-Scarra G, Bruno W, Queirolo P, Fornarini G, Hansson J, Tuominen R, Burdett L, Hicks B, Hutchinson A, Jones K, Yeager M, Chanock SJ, Landi MT, Höiom V, Olsson H, Gruis N, Ghiorzo P, Tucker MA, Goldstein AM. Yang XR, et al. Among authors: bianchi scarra g. Hum Genet. 2016 Nov;135(11):1241-1249. doi: 10.1007/s00439-016-1715-1. Epub 2016 Jul 23. Hum Genet. 2016. PMID: 27449771 Free PMC article.
Functional analysis of CDKN2A/p16INK4a 5'-UTR variants predisposing to melanoma.
Bisio A, Nasti S, Jordan JJ, Gargiulo S, Pastorino L, Provenzani A, Quattrone A, Queirolo P, Bianchi-Scarrà G, Ghiorzo P, Inga A. Bisio A, et al. Among authors: bianchi scarra g. Hum Mol Genet. 2010 Apr 15;19(8):1479-91. doi: 10.1093/hmg/ddq022. Epub 2010 Jan 21. Hum Mol Genet. 2010. PMID: 20093296
CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.
Scaini MC, Minervini G, Elefanti L, Ghiorzo P, Pastorino L, Tognazzo S, Agata S, Quaggio M, Zullato D, Bianchi-Scarrà G, Montagna M, D'Andrea E, Menin C, Tosatto SC. Scaini MC, et al. Among authors: bianchi scarra g. Hum Mutat. 2014 Jul;35(7):828-40. doi: 10.1002/humu.22550. Epub 2014 May 21. Hum Mutat. 2014. PMID: 24659262
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