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High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.
Mantelli M, Barile M, Ciotti P, Ghiorzo P, Lantieri F, Pastorino L, Catricalà C, Torre GD, Folco U, Grammatico P, Padovani L, Pasini B, Rovini D, Queirolo P, Rainero ML, Santi PL, Sertoli RM, Goldstein AM, Bianchi-Scarrà G; Società Italiana Dermatologia; Gruppo Italiano Studi Epidemiologici in Dermatologia. Mantelli M, et al. Among authors: pasini b. Am J Med Genet. 2002 Jan 22;107(3):214-21. Am J Med Genet. 2002. PMID: 11807902
Clinical genetic testing for familial melanoma in Italy: a cooperative study.
Bruno W, Ghiorzo P, Battistuzzi L, Ascierto PA, Barile M, Gargiulo S, Gensini F, Gliori S, Guida M, Lombardo M, Manoukian S, Menin C, Nasti S, Origone P, Pasini B, Pastorino L, Peissel B, Pizzichetta MA, Queirolo P, Rodolfo M, Romanini A, Scaini MC, Testori A, Tibiletti MG, Turchetti D, Leachman SA, Bianchi Scarrà G; IMI, Italian Melanoma Intergroup. Bruno W, et al. Among authors: pasini b. J Am Acad Dermatol. 2009 Nov;61(5):775-82. doi: 10.1016/j.jaad.2009.03.039. Epub 2009 Jun 4. J Am Acad Dermatol. 2009. PMID: 19500876
The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers.
Catucci I, Verderio P, Pizzamiglio S, Manoukian S, Peissel B, Zaffaroni D, Roversi G, Ripamonti CB, Pasini B, Barile M, Viel A, Giannini G, Papi L, Varesco L, Martayan A, Riboni M, Volorio S, Radice P, Peterlongo P. Catucci I, et al. Among authors: pasini b. Breast Cancer Res Treat. 2011 Feb;125(3):855-60. doi: 10.1007/s10549-010-1068-8. Epub 2010 Jul 22. Breast Cancer Res Treat. 2011. PMID: 20652397
Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. Seri M, et al. Among authors: pasini b. Hum Mutat. 1997;9(3):243-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8. Hum Mutat. 1997. PMID: 9090527
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE. Bayley JP, et al. Among authors: pasini b. BMC Med Genet. 2006 Jan 11;7:1. doi: 10.1186/1471-2350-7-1. BMC Med Genet. 2006. PMID: 16405730 Free PMC article.
156 results