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Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease.
Cialfi S, Oliviero C, Ceccarelli S, Marchese C, Barbieri L, Biolcati G, Uccelletti D, Palleschi C, Barboni L, De Bernardo C, Grammatico P, Magrelli A, Salvatore M, Taruscio D, Frati L, Gulino A, Screpanti I, Talora C. Cialfi S, et al. Among authors: de bernardo c. Br J Dermatol. 2010 Mar;162(3):518-26. doi: 10.1111/j.1365-2133.2009.09500.x. Epub 2009 Nov 9. Br J Dermatol. 2010. PMID: 19903178
Molecular characterization of 11 Italian patients with Darier disease.
Pedace L, Barboni L, Pozzetto E, Amantea A, Zambruno G, Preziosi N, Benedicenti F, Boni S, De Brasi D, Panetta C, Ferraro C, De Bernardo C, Castori M, Grammatico P. Pedace L, et al. Among authors: de brasi d, de bernardo c. Eur J Dermatol. 2011 May-Jun;21(3):334-8. doi: 10.1684/ejd.2011.1339. Eur J Dermatol. 2011. PMID: 21527373
CDKN2A novel mutation in a patient from a melanoma-prone family.
Grammatico P, Binni F, Eibenschutz L, De Bernardo C, Grammatico B, Rinaldi R, De Simone P, Catricalà C. Grammatico P, et al. Among authors: de bernardo c, de simone p. Melanoma Res. 2001 Oct;11(5):447-9. doi: 10.1097/00008390-200110000-00002. Melanoma Res. 2001. PMID: 11595880
The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation.
Castori M, Morlino S, Radio FC, De Bernardo C, Grammatico P. Castori M, et al. Among authors: de bernardo c. Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 24038754 No abstract available.
A novel variant in the 3' untranslated region of the CDK4 gene: interference with microRNA target sites and role in increased risk of cutaneous melanoma.
Pedace L, Cozzolino AM, Barboni L, De Bernardo C, Grammatico P, De Simone P, Buccini P, Ferrari A, Catricalà C, Colombo T, Donati P, Morrone A. Pedace L, et al. Among authors: de bernardo c, de simone p. Cancer Genet. 2014 Apr;207(4):168-9. doi: 10.1016/j.cancergen.2014.03.005. Epub 2014 Mar 19. Cancer Genet. 2014. PMID: 24797605 No abstract available.
Clinical features predicting identification of CDKN2A mutations in Italian patients with familial cutaneous melanoma.
Pedace L, De Simone P, Castori M, Sperduti I, Silipo V, Eibenschutz L, De Bernardo C, Buccini P, Moscarella E, Panetta C, Ferrari A, Grammatico P, Catricalà C. Pedace L, et al. Among authors: de bernardo c, de simone p. Cancer Epidemiol. 2011 Dec;35(6):e116-20. doi: 10.1016/j.canep.2011.07.007. Epub 2011 Sep 3. Cancer Epidemiol. 2011. PMID: 21893440
44 results